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EmVClass

NTD Genetics' Variant Classification Catalog

Please enter the official gene symbol and click Search to see all the variants that have been seen and analyzed by NTD Genetics for that gene.
NTD Genetics classification definitions may be reviewed here.
You may submit a question regarding a variant by clicking the appropriate button on the returned data table.
You may prompt a review of a variant of unknown signifigance (VOUS) reviewed greater than six months ago by clicking the appropriate button on the returned data table.
If a reported variant has changed classification, you may request an amended report by clicking here.
OrderGeneExonNucleotide ChangeProtein ChangeAlias ListingClassificationLast Reviewed  
1NPC1Ex1NM_000271.4:c.7G>Ap.Ala3Thr | p.A3TNM_000271.3:c.7G>A, NM_000271.4:c.7G>A, XM_005258277.1:c.7G>A, XM_005258278.1:c.7G>A, XM_005258279.1:c.7G>AVOUS12/10/2018
2NPC1Ex1NM_000271.4:c.-22A>CBenign** 
3NPC1Ex1NM_000271.4:c.25G>Ap.Gly9Ser | p.G9SNM_000271.3:c.25G>A, NM_000271.4:c.25G>A, XM_005258277.1:c.25G>A, XM_005258278.1:c.25G>A, XM_005258279.1:c.25G>AVOUS06/18/2020
4NPC1Ex1NM_000271.4:c.57+7G>ANM_000271.3:c.57+7G>A, NM_000271.4:c.57+7G>A, XM_005258277.1:c.57+7G>A, XM_005258278.1:c.57+7G>A, XM_005258279.1:c.57+7G>AVOUS11/23/2015
5NPC1Ex1NM_000271.4:c.-238C>GLikely benign02/01/2021 
6NPC1Ex2NM_000271.4:c.58-7delTNM_000271.3:c.58-7delT, NM_000271.4:c.58-7delT, XM_005258277.1:c.58-7delT, XM_005258278.1:c.58-7delT, XM_005258279.1:c.58-7delT, XM_005258280.1:c.-408-7delTVOUS04/16/2019
7NPC1Ex2NM_000271.4:c.58-4G>ANM_000271.3:c.58-4G>A, NM_000271.4:c.58-4G>A, XM_005258277.1:c.58-4G>A, XM_005258278.1:c.58-4G>A, XM_005258279.1:c.58-4G>A, XM_005258280.1:c.-408-4G>AVOUS02/22/2018
8NPC1Ex2NM_000271.4:c.66A>Gp.Ser22= | p.S22=NM_000271.3:c.66A>G, NM_000271.4:c.66A>G, XM_005258277.1:c.66A>G, XM_005258278.1:c.66A>G, XM_005258279.1:c.66A>G, XM_005258280.1:c.-400A>GLikely benign08/29/2016 
9NPC1Ex2NM_000271.4:c.67delCp.Gln23Serfs*36 | p.Q23SfsX36NM_000271.3:c.67delC, NM_000271.4:c.67delC, XM_005258277.1:c.67delC, XM_005258278.1:c.67delC, XM_005258279.1:c.67delC, XM_005258280.1:c.-399delCPathogenic02/02/2016 
10NPC1Ex2NM_000271.4:c.89A>Tp.Glu30Val | p.E30VNM_000271.3:c.89A>T, NM_000271.4:c.89A>T, XM_005258277.1:c.89A>T, XM_005258278.1:c.89A>T, XM_005258279.1:c.89A>T, XM_005258280.1:c.-377A>TVOUS07/06/2018
11NPC1Ex2NM_000271.4:c.90G>Ap.Glu30= | p.E30=NM_000271.3:c.90G>A, NM_000271.4:c.90G>A, XM_005258277.1:c.90G>A, XM_005258278.1:c.90G>A, XM_005258279.1:c.90G>A, XM_005258280.1:c.-376G>AVOUS07/27/2017
12NPC1Ex2NM_000271.4:c.94G>Ap.Gly32Arg | p.G32RNM_000271.3:c.94G>A, NM_000271.4:c.94G>A, XM_005258277.1:c.94G>A, XM_005258278.1:c.94G>A, XM_005258279.1:c.94G>A, XM_005258280.1:c.-372G>AVOUS01/29/2021
13NPC1Ex2NM_000271.4:c.110A>Gp.Asp37Gly | p.D37GNM_000271.3:c.110A>G, NM_000271.4:c.110A>G, XM_005258277.1:c.110A>G, XM_005258278.1:c.110A>G, XM_005258279.1:c.110A>G, XM_005258280.1:c.-356A>GVOUS09/10/2020
14NPC1Ex2NM_000271.4:c.123T>Cp.Asn41= | p.N41=NM_000271.3:c.123T>C, NM_000271.4:c.123T>C, XM_005258277.1:c.123T>C, XM_005258278.1:c.123T>C, XM_005258279.1:c.123T>C, XM_005258280.1:c.-343T>CVOUS07/02/2019
15NPC1Ex2NM_000271.4:c.125G>Ap.Cys42Tyr | p.C42YVOUS**
16NPC1Ex2NM_000271.4:c.126C>Tp.Cys42= | p.C42=NM_000271.3:c.126C>T, NM_000271.4:c.126C>T, XM_005258277.1:c.126C>T, XM_005258278.1:c.126C>T, XM_005258279.1:c.126C>T, XM_005258280.1:c.-340C>TVOUS11/19/2018
17NPC1Ex2NM_000271.4:c.137G>Tp.Gly46Val | p.G46VVOUS**
18NPC1Ex2NM_000271.4:c.180G>Tp.Gln60His | p.Q60HNM_000271.3:c.180G>T, NM_000271.4:c.180G>T, XM_005258277.1:c.180G>T, XM_005258278.1:c.180G>T, XM_005258279.1:c.180G>T, XM_005258280.1:c.-286G>TVOUS06/26/2020
19NPC1Ex2NM_000271.4:c.180+8C>TNM_000271.3:c.180+8C>T, NM_000271.4:c.180+8C>T, XM_005258277.1:c.180+8C>T, XM_005258278.1:c.180+8C>T, XM_005258279.1:c.180+8C>T, XM_005258280.1:c.-286+8C>TVOUS12/26/2017
20NPC1Ex3NM_000271.4:c.181-3A>GNM_000271.3:c.181-3A>G, NM_000271.4:c.181-3A>G, XM_005258277.1:c.181-3A>G, XM_005258278.1:c.181-3A>G, XM_005258279.1:c.181-3A>G, XM_005258280.1:c.-285-3A>GVOUS01/19/2018
21NPC1Ex3NM_000271.4:c.204T>Gp.Phe68Leu | p.F68LNM_000271.3:c.204T>G, NM_000271.4:c.204T>G, XM_005258277.1:c.204T>G, XM_005258278.1:c.204T>G, XM_005258279.1:c.204T>G, XM_005258280.1:c.-262T>GVOUS12/13/2017
22NPC1Ex3NM_000271.4:c.209A>Gp.Asn70Ser | p.N70SNM_000271.3:c.209A>G, NM_000271.4:c.209A>G, XM_005258277.1:c.209A>G, XM_005258278.1:c.209A>G, XM_005258279.1:c.209A>G, XM_005258280.1:c.-257A>GVOUS10/02/2020
23NPC1Ex3NM_000271.4:c.233G>Ap.Arg78Gln | p.R78QNM_000271.3:c.233G>A, NM_000271.4:c.233G>A, XM_005258277.1:c.233G>A, XM_005258278.1:c.233G>A, XM_005258279.1:c.233G>A, XM_005258280.1:c.-233G>AVOUS06/08/2020
24NPC1Ex3NM_000271.4:c.249A>Gp.Leu83= | p.L83=NM_000271.3:c.249A>G, NM_000271.4:c.249A>G, XM_005258277.1:c.249A>G, XM_005258278.1:c.249A>G, XM_005258279.1:c.249A>G, XM_005258280.1:c.-217A>GVOUS06/17/2019
25NPC1Ex3NM_000271.4:c.273A>Gp.Leu91= | p.L91=NM_000271.3:c.273A>G, NM_000271.4:c.273A>G, XM_005258277.1:c.273A>G, XM_005258278.1:c.273A>G, XM_005258279.1:c.273A>G, XM_005258280.1:c.-193A>GVOUS04/23/2019
26NPC1Ex4NM_000271.4:c.302T>Gp.Phe101Cys | p.F101CNM_000271.3:c.302T>G, NM_000271.4:c.302T>G, XM_005258277.1:c.302T>G, XM_005258278.1:c.302T>G, XM_005258279.1:c.302T>G, XM_005258280.1:c.-164T>GVOUS02/17/2017
27NPC1Ex4NM_000271.4:c.347G>Ap.Arg116Gln | p.R116QNM_000271.3:c.347G>A, NM_000271.4:c.347G>A, XM_005258277.1:c.347G>A, XM_005258278.1:c.347G>A, XM_005258279.1:c.347G>A, XM_005258280.1:c.-119G>AVOUS10/22/2020
28NPC1Ex4NM_000271.4:c.372A>Tp.Thr124= | p.T124=NM_000271.3:c.372A>T, NM_000271.4:c.372A>T, XM_005258277.1:c.372A>T, XM_005258278.1:c.372A>T, XM_005258279.1:c.372A>T, XM_005258280.1:c.-94A>TVOUS06/03/2016
29NPC1Ex4NM_000271.4:c.379G>Cp.Glu127Gln | p.E127QNM_000271.3:c.379G>C, NM_000271.4:c.379G>C, XM_005258277.1:c.379G>C, XM_005258278.1:c.379G>C, XM_005258279.1:c.379G>C, XM_005258280.1:c.-87G>CVOUS02/02/2021
30NPC1Ex4NM_000271.4:c.387T>Cp.Tyr129= | p.Y129=NM_000271.3:c.387T>C, NM_000271.4:c.387T>C, XM_005258277.1:c.387T>C, XM_005258278.1:c.387T>C, XM_005258279.1:c.387T>C, XM_005258280.1:c.-79T>CBenign07/25/2019 
31NPC1Ex4NM_000271.4:c.398T>Gp.Val133Gly | p.V133GNM_000271.3:c.398T>G, NM_000271.4:c.398T>G, XM_005258277.1:c.398T>G, XM_005258278.1:c.398T>G, XM_005258279.1:c.398T>G, XM_005258280.1:c.-68T>GVOUS09/04/2018
32NPC1Ex4NM_000271.4:c.411G>Ap.Thr137= | p.T137=NM_000271.3:c.411G>A, NM_000271.4:c.411G>A, XM_005258277.1:c.411G>A, XM_005258278.1:c.411G>A, XM_005258279.1:c.411G>A, XM_005258280.1:c.-55G>AVOUS09/21/2017
33NPC1Ex4NM_000271.4:c.423_424dupGAp.Lys142Argfs*80 | p.K142RfsX80NM_000271.3:c.423_424dupGA, NM_000271.3:c.424_425insGA, NM_000271.4:c.423_424dupGA, NM_000271.4:c.424_425insGA, XM_005258277.1:c.423_424dupGA, XM_005258277.1:c.424_425insGA, XM_005258278.1:c.423_424dupGA, XM_005258278.1:c.424_425insGA, XM_005258279.1:c.423_424dupGA, XM_005258279.1:c.424_425insGA, XM_005258280.1:c.-42_-41insGA, XM_005258280.1:c.-43_-42dupGAPathogenic07/06/2020 
34NPC1Ex4NM_000271.4:c.435A>Gp.Gln145= | p.Q145=NM_000271.3:c.435A>G, NM_000271.4:c.435A>G, XM_005258277.1:c.435A>G, XM_005258278.1:c.435A>G, XM_005258279.1:c.435A>G, XM_005258280.1:c.-31A>GVOUS02/01/2020
35NPC1Ex4NM_000271.4:c.441C>Tp.Tyr147= | p.Y147=NM_000271.3:c.441C>T, NM_000271.4:c.441C>T, XM_005258277.1:c.441C>T, XM_005258278.1:c.441C>T, XM_005258279.1:c.441C>T, XM_005258280.1:c.-25C>TVOUS07/26/2019
36NPC1Ex4NM_000271.4:c.444C>Gp.Val148= | p.V148=NM_000271.3:c.444C>G, NM_000271.4:c.444C>G, XM_005258277.1:c.444C>G, XM_005258278.1:c.444C>G, XM_005258279.1:c.444C>G, XM_005258280.1:c.-22C>GVOUS04/05/2018
37NPC1Ex4NM_000271.4:c.445G>Ap.Gly149Arg | p.G149RNM_000271.3:c.445G>A, NM_000271.4:c.445G>A, XM_005258277.1:c.445G>A, XM_005258278.1:c.445G>A, XM_005258279.1:c.445G>A, XM_005258280.1:c.-21G>ALikely benign12/11/2019 
38NPC1Ex4NM_000271.4:c.451_452delAGp.Ser151Phefs*18 | p.S151FfsX18NM_000271.3:c.451_452delAG, NM_000271.4:c.451_452delAG, XM_005258277.1:c.451_452delAG, XM_005258278.1:c.451_452delAG, XM_005258279.1:c.451_452delAG, XM_005258280.1:c.-15_-14delAGPathogenic06/17/2019 
39NPC1Ex4NM_000271.4:c.463+19A>GVOUS**
40NPC1Ex5NM_000271.4:c.466A>Gp.Met156Val | p.M156VNM_000271.3:c.466A>G, NM_000271.4:c.466A>G, XM_005258277.1:c.466A>G, XM_005258278.1:c.466A>G, XM_005258279.1:c.466A>G, XM_005258280.1:c.1A>GVOUS02/27/2020
41NPC1Ex5NM_000271.4:c.467T>Cp.Met156Thr | p.M156TNM_000271.3:c.467T>C, NM_000271.4:c.467T>C, XM_005258277.1:c.467T>C, XM_005258278.1:c.467T>C, XM_005258279.1:c.467T>C, XM_005258280.1:c.2T>CVOUS01/21/2016
42NPC1Ex5NM_000271.4:c.471C>Tp.Tyr157= | p.Y157=NM_000271.3:c.471C>T, NM_000271.4:c.471C>T, XM_005258277.1:c.471C>T, XM_005258278.1:c.471C>T, XM_005258279.1:c.471C>T, XM_005258280.1:c.6C>TVOUS02/20/2020
43NPC1Ex5NM_000271.4:c.481C>Tp.Arg161Trp | p.R161WNM_000271.3:c.481C>T, NM_000271.4:c.481C>T, XM_005258277.1:c.481C>T, XM_005258278.1:c.481C>T, XM_005258279.1:c.481C>T, XM_005258280.1:c.16C>TVOUS09/01/2016
44NPC1Ex5NM_000271.4:c.494C>Ap.Ala165Asp | p.A165DNM_000271.3:c.494C>A, NM_000271.4:c.494C>A, XM_005258277.1:c.494C>A, XM_005258278.1:c.494C>A, XM_005258279.1:c.494C>A, XM_005258280.1:c.29C>AVOUS09/06/2018
45NPC1Ex5NM_000271.4:c.501A>Gp.Ser167= | p.S167=NM_000271.3:c.501A>G, NM_000271.4:c.501A>G, XM_005258277.1:c.501A>G, XM_005258278.1:c.501A>G, XM_005258279.1:c.501A>G, XM_005258280.1:c.36A>GLikely benign05/07/2019 
46NPC1Ex5NM_000271.4:c.530G>Ap.Cys177Tyr | p.C177YNM_000271.3:c.530G>A, NM_000271.4:c.530G>A, XM_005258277.1:c.530G>A, XM_005258278.1:c.530G>A, XM_005258279.1:c.530G>A, XM_005258280.1:c.65G>APathogenic12/18/2017 
47NPC1Ex5NM_000271.4:c.541G>Ap.Ala181Thr | p.A181TNM_000271.3:c.541G>A, NM_000271.4:c.541G>A, XM_005258277.1:c.541G>A, XM_005258278.1:c.541G>A, XM_005258279.1:c.541G>A, XM_005258280.1:c.76G>AVOUS08/09/2019
48NPC1Ex5NM_000271.4:c.544G>Ap.Asp182Asn | p.D182NNM_000271.3:c.544G>A, NM_000271.4:c.544G>A, XM_005258277.1:c.544G>A, XM_005258278.1:c.544G>A, XM_005258279.1:c.544G>A, XM_005258280.1:c.79G>AVOUS12/11/2019
49NPC1Ex5NM_000271.4:c.546C>Tp.Asp182= | p.D182=NM_000271.3:c.546C>T, NM_000271.4:c.546C>T, XM_005258277.1:c.546C>T, XM_005258278.1:c.546C>T, XM_005258279.1:c.546C>T, XM_005258280.1:c.81C>TVOUS05/02/2017
50NPC1Ex5NM_000271.4:c.547G>Ap.Ala183Thr | p.A183TNM_000271.3:c.547G>A, NM_000271.4:c.547G>A, XM_005258277.1:c.547G>A, XM_005258278.1:c.547G>A, XM_005258279.1:c.547G>A, XM_005258280.1:c.82G>AVOUS12/28/2020
51NPC1Ex5NM_000271.4:c.550T>Cp.Cys184Arg | p.C184RNM_000271.3:c.550T>C, NM_000271.4:c.550T>C, XM_005258277.1:c.550T>C, XM_005258278.1:c.550T>C, XM_005258279.1:c.550T>C, XM_005258280.1:c.85T>CVOUS08/29/2019
52NPC1Ex5NM_000271.4:c.563A>Gp.Asn188Ser | p.N188SNM_000271.3:c.563A>G, NM_000271.4:c.563A>G, XM_005258277.1:c.563A>G, XM_005258278.1:c.563A>G, XM_005258279.1:c.563A>G, XM_005258280.1:c.98A>GVOUS02/19/2020
53NPC1Ex5NM_000271.4:c.569T>Cp.Ile190Thr | p.I190TNM_000271.3:c.569T>C, NM_000271.4:c.569T>C, XM_005258277.1:c.569T>C, XM_005258278.1:c.569T>C, XM_005258279.1:c.569T>C, XM_005258280.1:c.104T>CVOUS12/22/2016
54NPC1Ex5NM_000271.4:c.612C>Tp.Thr204= | p.T204=NM_000271.3:c.612C>T, NM_000271.4:c.612C>T, XM_005258277.1:c.612C>T, XM_005258278.1:c.612C>T, XM_005258279.1:c.612C>T, XM_005258280.1:c.147C>TBenign09/26/2017 
55NPC1Ex5NM_000271.4:c.631+7A>GNM_000271.3:c.631+7A>G, NM_000271.4:c.631+7A>G, XM_005258277.1:c.631+7A>G, XM_005258278.1:c.631+7A>G, XM_005258279.1:c.631+7A>G, XM_005258280.1:c.166+7A>GVOUS09/16/2016
56NPC1Ex6NM_000271.4:c.644A>Gp.His215Arg | p.H215RNM_000271.3:c.644A>G, NM_000271.4:c.644A>GBenign07/24/2015 
57NPC1Ex6NM_000271.4:c.645T>Cp.His215= | p.H215=NM_000271.3:c.645T>C, NM_000271.4:c.645T>C, XM_005258277.1:c.645T>C, XM_005258278.1:c.645T>C, XM_005258279.1:c.645T>C, XM_005258280.1:c.180T>CVOUS02/25/2020
58NPC1Ex6NM_000271.4:c.647G>Ap.Gly216Glu | p.G216ENM_000271.3:c.647G>A, NM_000271.4:c.647G>A, XM_005258277.1:c.647G>A, XM_005258278.1:c.647G>A, XM_005258279.1:c.647G>A, XM_005258280.1:c.182G>AVOUS09/05/2019
59NPC1Ex6NM_000271.4:c.651G>Ap.Met217Ile | p.M217INM_000271.3:c.651G>A, NM_000271.4:c.651G>A, XM_005258277.1:c.651G>A, XM_005258278.1:c.651G>A, XM_005258279.1:c.651G>A, XM_005258280.1:c.186G>AVOUS03/05/2020
60NPC1Ex6NM_000271.4:c.665A>Gp.Asn222Ser | p.N222SNM_000271.3:c.665A>G, NM_000271.4:c.665A>G, XM_005258277.1:c.665A>G, XM_005258279.1:c.665A>G, XM_005258280.1:c.200A>GLikely benign09/22/2015 
61NPC1Ex6NM_000271.4:c.681T>Gp.Cys227Trp | p.C227WVOUS**
62NPC1Ex6NM_000271.4:c.684C>Tp.Asp228= | p.D228=NM_000271.3:c.684C>T, NM_000271.4:c.684C>T, XM_005258277.1:c.684C>T, XM_005258278.1:c.684C>T, XM_005258279.1:c.684C>T, XM_005258280.1:c.219C>TVOUS12/06/2017
63NPC1Ex6NM_000271.4:c.688_693delTCTGTGNM_000271.3:c.688_693delTCTGTG, NM_000271.4:c.688_693delTCTGTG, XM_005258277.1:c.688_693delTCTGTG, XM_005258278.1:c.688_693delTCTGTG, XM_005258279.1:c.688_693delTCTGTG, XM_005258280.1:c.223_228delTCTGTGVOUS08/09/2016
64NPC1Ex6NM_000271.4:c.695A>Gp.Asp232Gly | p.D232GNM_000271.3:c.695A>G, NM_000271.4:c.695A>G, XM_005258277.1:c.695A>G, XM_005258278.1:c.695A>G, XM_005258279.1:c.695A>G, XM_005258280.1:c.230A>GVOUS10/03/2019
65NPC1Ex6NM_000271.4:c.709C>Tp.Pro237Ser | p.P237SNM_000271.3:c.709C>T, NM_000271.4:c.709C>T, XM_005258277.1:c.709C>T, XM_005258278.1:c.709C>T, XM_005258279.1:c.709C>T, XM_005258280.1:c.244C>TBenign07/24/2015 
66NPC1Ex6NM_000271.4:c.723A>Cp.Gln241His | p.Q241HVOUS**
67NPC1Ex6NM_000271.4:c.736G>Ap.Val246Ile | p.V246INM_000271.3:c.736G>A, NM_000271.4:c.736G>A, XM_005258277.1:c.736G>A, XM_005258278.1:c.736G>A, XM_005258279.1:c.736G>A, XM_005258280.1:c.271G>AVOUS01/24/2019
68NPC1Ex6NM_000271.4:c.737_738delTCinsCAp.Val246Ala | p.V246ANM_000271.3:c.737_738delinsCA, NM_000271.4:c.737_738delinsCA, XM_005258277.1:c.737_738delinsCA, XM_005258278.1:c.737_738delinsCA, XM_005258279.1:c.737_738delinsCA, XM_005258280.1:c.272_273delinsCAVOUS11/02/2017
69NPC1Ex6NM_000271.4:c.743G>Tp.Gly248Val | p.G248VPathogenic** 
70NPC1Ex6NM_000271.4:c.747delCp.Lys250Serfs*60 | p.K250SfsX60NM_000271.3:c.747delC, NM_000271.4:c.747delC, XM_005258277.1:c.747delC, XM_005258278.1:c.747delC, XM_005258279.1:c.747delC, XM_005258280.1:c.282delCPathogenic08/18/2020 
71NPC1Ex6NM_000271.4:c.761C>Ap.Pro254Gln | p.P254QNM_000271.3:c.761C>A, NM_000271.4:c.761C>A, XM_005258277.1:c.761C>A, XM_005258278.1:c.761C>A, XM_005258279.1:c.761C>A, XM_005258280.1:c.296C>AVOUS04/16/2019
72NPC1Ex6NM_000271.4:c.783G>Ap.Thr261= | p.T261=NM_000271.3:c.783G>A, NM_000271.4:c.783G>A, XM_005258277.1:c.783G>A, XM_005258278.1:c.783G>A, XM_005258279.1:c.783G>A, XM_005258280.1:c.318G>AVOUS07/02/2020
73NPC1Ex6NM_000271.4:c.799G>Ap.Ala267Thr | p.A267TNM_000271.3:c.799G>A, NM_000271.4:c.799G>A, XM_005258277.1:c.799G>A, XM_005258278.1:c.799G>A, XM_005258279.1:c.799G>A, XM_005258280.1:c.334G>AVOUS07/28/2020
74NPC1Ex6NM_000271.4:c.800C>Gp.Ala267Gly | p.A267GNM_000271.3:c.800C>G, NM_000271.4:c.800C>G, XM_005258277.1:c.800C>G, XM_005258278.1:c.800C>G, XM_005258279.1:c.800C>G, XM_005258280.1:c.335C>GVOUS03/14/2017
75NPC1Ex6NM_000271.4:c.813_815delCATp.Ile271del | p.I271delNM_000271.3:c.813_815delCAT, NM_000271.4:c.813_815delCAT, XM_005258277.1:c.813_815delCAT, XM_005258278.1:c.813_815delCAT, XM_005258279.1:c.813_815delCAT, XM_005258280.1:c.348_350delCATVOUS06/27/2019
76NPC1Ex6NM_000271.4:c.834G>Ap.Ala278= | p.A278=NM_000271.3:c.834G>A, NM_000271.4:c.834G>A, XM_005258277.1:c.834G>A, XM_005258278.1:c.834G>A, XM_005258279.1:c.834G>A, XM_005258280.1:c.369G>AVOUS02/29/2016
77NPC1Ex6NM_000271.4:c.870G>Ap.Val290= | p.V290=NM_000271.3:c.870G>A, NM_000271.4:c.870G>A, XM_005258277.1:c.870G>A, XM_005258278.1:c.870G>A, XM_005258279.1:c.870G>A, XM_005258280.1:c.405G>AVOUS11/09/2020
78NPC1Ex6NM_000271.4:c.873G>Tp.Trp291Cys | p.W291CNM_000271.3:c.873G>T, NM_000271.4:c.873G>T, XM_005258277.1:c.873G>T, XM_005258278.1:c.873G>T, XM_005258279.1:c.873G>T, XM_005258280.1:c.408G>TVOUS01/13/2020
79NPC1Ex7NM_000271.4:c.882-40T>ANM_000271.3:c.882-40T>A, NM_000271.4:c.882-40T>A, XM_005258277.1:c.882-40T>A, XM_005258278.1:c.882-40T>A, XM_005258279.1:c.882-40T>A, XM_005258280.1:c.417-40T>ABenign10/18/2018 
80NPC1Ex7NM_000271.4:c.895G>Cp.Val299Leu | p.V299LNM_000271.3:c.895G>C, NM_000271.4:c.895G>C, XM_005258277.1:c.895G>C, XM_005258278.1:c.895G>C, XM_005258279.1:c.895G>C, XM_005258280.1:c.430G>CVOUS10/02/2020
81NPC1Ex7NM_000271.4:c.905A>Gp.Tyr302Cys | p.Y302CNM_000271.3:c.905A>G, NM_000271.4:c.905A>G, XM_005258277.1:c.905A>G, XM_005258278.1:c.905A>G, XM_005258279.1:c.905A>G, XM_005258280.1:c.440A>GVOUS12/04/2020
82NPC1Ex7NM_000271.4:c.916G>Ap.Asp306Asn | p.D306NNM_000271.3:c.916G>A, NM_000271.4:c.916G>A, XM_005258277.1:c.916G>A, XM_005258278.1:c.916G>A, XM_005258279.1:c.916G>A, XM_005258280.1:c.451G>AVOUS06/22/2017
83NPC1Ex8NM_000271.4:c.956-10G>AVOUS12/31/2020
84NPC1Ex8NM_000271.4:c.956-7C>GNM_000271.3:c.956-7C>G, NM_000271.4:c.956-7C>G, XM_005258277.1:c.1000C>G, XM_005258278.1:c.1000C>G, XM_005258279.1:c.956-7C>G, XM_005258280.1:c.535C>GVOUS09/13/2016
85NPC1Ex8NM_000271.4:c.966C>Gp.Ser322= | p.S322=NM_000271.3:c.966C>G, NM_000271.4:c.966C>G, XM_005258277.1:c.1017C>G, XM_005258278.1:c.1017C>G, XM_005258279.1:c.966C>G, XM_005258280.1:c.552C>GVOUS01/02/2019
86NPC1Ex8NM_000271.4:c.973_974dupGANM_000271.3:c.974_975insGA, NM_000271.4:c.974_975insGA, XM_005258277.1:c.1025_1026insGA, XM_005258278.1:c.1025_1026insGA, XM_005258279.1:c.974_975insGA, XM_005258280.1:c.560_561insGAPathogenic08/25/2016 
87NPC1Ex8NM_000271.4:c.985G>Ap.Ala329Thr | p.A329TNM_000271.3:c.985G>A, NM_000271.4:c.985G>A, XM_005258277.1:c.1036G>A, XM_005258278.1:c.1036G>A, XM_005258279.1:c.985G>A, XM_005258280.1:c.571G>AVOUS10/06/2017
88NPC1Ex8NM_000271.4:c.1001G>Cp.Cys334Ser | p.C334SNM_000271.3:c.1001G>C, NM_000271.4:c.1001G>C, XM_005258277.1:c.1052G>C, XM_005258278.1:c.1052G>C, XM_005258279.1:c.1001G>C, XM_005258280.1:c.587G>CVOUS08/21/2019
89NPC1Ex8NM_000271.4:c.1010G>Ap.Arg337Gln | p.R337QNM_000271.3:c.1010G>A, NM_000271.4:c.1010G>A, XM_005258277.1:c.1061G>A, XM_005258278.1:c.1061G>A, XM_005258279.1:c.1010G>A, XM_005258280.1:c.596G>AVOUS05/31/2017
90NPC1Ex8NM_000271.4:c.1011G>Tp.Arg337= | p.R337=NM_000271.3:c.1011G>T, NM_000271.4:c.1011G>T, XM_005258277.1:c.1062G>T, XM_005258278.1:c.1062G>T, XM_005258279.1:c.1011G>T, XM_005258280.1:c.597G>TLikely benign07/29/2019 
91NPC1Ex8NM_000271.4:c.1013T>Cp.Leu338Pro | p.L338PNM_000271.3:c.1013T>C, NM_000271.4:c.1013T>C, XM_005258277.1:c.1064T>C, XM_005258278.1:c.1064T>C, XM_005258279.1:c.1013T>C, XM_005258280.1:c.599T>CVOUS06/08/2020
92NPC1Ex8NM_000271.4:c.1039G>Ap.Val347Ile | p.V347INM_000271.3:c.1039G>A, NM_000271.4:c.1039G>A, XM_005258277.1:c.1090G>A, XM_005258278.1:c.1090G>A, XM_005258279.1:c.1039G>A, XM_005258280.1:c.625G>AVOUS01/21/2020
93NPC1Ex8NM_000271.4:c.1065delCNM_000271.3:c.1065delC, NM_000271.4:c.1065delC, XM_005258277.1:c.1116delC, XM_005258278.1:c.1116delC, XM_005258279.1:c.1065delC, XM_005258280.1:c.651delCPathogenic07/07/2016 
94NPC1Ex8NM_000271.4:c.1071G>Ap.Ser357= | p.S357=NM_000271.3:c.1071G>A, NM_000271.4:c.1071G>A, XM_005258277.1:c.1122G>A, XM_005258278.1:c.1122G>A, XM_005258279.1:c.1071G>A, XM_005258280.1:c.657G>ABenign07/23/2015 
95NPC1Ex8NM_000271.4:c.1085C>Ap.Thr362Asn | p.T362NNM_000271.3:c.1085C>A, NM_000271.4:c.1085C>A, XM_005258277.1:c.1136C>A, XM_005258278.1:c.1136C>A, XM_005258279.1:c.1085C>A, XM_005258280.1:c.671C>AVOUS03/08/2018
96NPC1Ex8NM_000271.4:c.1088C>Tp.Ala363Val | p.A363VNM_000271.3:c.1088C>T, NM_000271.4:c.1088C>T, XM_005258277.1:c.1139C>T, XM_005258278.1:c.1139C>T, XM_005258279.1:c.1088C>T, XM_005258280.1:c.674C>TVOUS12/18/2020
97NPC1Ex8NM_000271.4:c.1098A>Gp.Ser366= | p.S366=NM_000271.3:c.1098A>G, NM_000271.4:c.1098A>G, XM_005258277.1:c.1149A>G, XM_005258278.1:c.1149A>G, XM_005258279.1:c.1098A>G, XM_005258280.1:c.684A>GVOUS11/07/2018
98NPC1Ex8NM_000271.4:c.1114C>Tp.Arg372Trp | p.R372WNM_000271.3:c.1114C>T, NM_000271.4:c.1114C>T, XM_005258277.1:c.1165C>T, XM_005258278.1:c.1165C>T, XM_005258279.1:c.1114C>T, XM_005258280.1:c.700C>TVOUS06/09/2020
99NPC1Ex8NM_000271.4:c.1115G>Ap.Arg372Gln | p.R372QNM_000271.3:c.1115G>A, NM_000271.4:c.1115G>A, XM_005258277.1:c.1166G>A, XM_005258278.1:c.1166G>A, XM_005258279.1:c.1115G>A, XM_005258280.1:c.701G>AVOUS06/29/2018
100NPC1Ex8NM_000271.4:c.1138C>Tp.Leu380Phe | p.L380FNM_000271.3:c.1138C>T, NM_000271.4:c.1138C>T, XM_005258277.1:c.1189C>T, XM_005258278.1:c.1189C>T, XM_005258279.1:c.1138C>T, XM_005258280.1:c.724C>TVOUS10/19/2018
101NPC1Ex8NM_000271.4:c.1140_1141delCTp.Trp381Valfs*15 | p.W381VfsX15NM_000271.3:c.1140_1141delCT, NM_000271.4:c.1140_1141delC, NM_000271.4:c.1140_1141delCT, XM_005258277.1:c.1191_1192delCT, XM_005258278.1:c.1191_1192delCT, XM_005258279.1:c.1140_1141delCT, XM_005258280.1:c.726_727delCTPathogenic09/01/2017 
102NPC1Ex8NM_000271.4:c.1142G>Ap.Trp381* | p.W381XNM_000271.3:c.1142G>A, NM_000271.4:c.1142G>A, XM_005258277.1:c.1193G>A, XM_005258278.1:c.1193G>A, XM_005258279.1:c.1142G>A, XM_005258280.1:c.728G>APathogenic10/20/2014 
103NPC1Ex8NM_000271.4:c.1153A>Gp.Ser385Gly | p.S385GNM_000271.3:c.1153A>G, NM_000271.4:c.1153A>G, XM_005258277.1:c.1204A>G, XM_005258278.1:c.1204A>G, XM_005258279.1:c.1153A>G, XM_005258280.1:c.739A>GVOUS08/19/2019
104NPC1Ex8NM_000271.4:c.1173A>Gp.Glu391= | p.E391=NM_000271.3:c.1173A>G, NM_000271.4:c.1173A>G, XM_005258277.1:c.1224A>G, XM_005258278.1:c.1224A>G, XM_005258279.1:c.1173A>G, XM_005258280.1:c.759A>GVOUS04/19/2019
105NPC1Ex8NM_000271.4:c.1201C>Tp.Pro401Ser | p.P401SVOUS**
106NPC1Ex8NM_000271.4:c.1210C>Tp.Arg404Trp | p.R404WNM_000271.3:c.1210C>T, NM_000271.4:c.1210C>T, XM_005258277.1:c.1261C>T, XM_005258278.1:c.1261C>T, XM_005258279.1:c.1210C>T, XM_005258280.1:c.796C>TLikely pathogenic10/01/2019 
107NPC1Ex8NM_000271.4:c.1211G>Ap.Arg404Gln | p.R404QNM_000271.3:c.1211G>A, NM_000271.4:c.1211G>A, XM_005258277.1:c.1262G>A, XM_005258278.1:c.1262G>A, XM_005258279.1:c.1211G>A, XM_005258280.1:c.797G>APathogenic02/03/2021 
108NPC1Ex8NM_000271.4:c.1214C>Tp.Thr405Met | p.T405MNM_000271.3:c.1214C>T, NM_000271.4:c.1214C>T, XM_005258277.1:c.1265C>T, XM_005258278.1:c.1265C>T, XM_005258279.1:c.1214C>T, XM_005258280.1:c.800C>TVOUS08/27/2018
109NPC1Ex8NM_000271.4:c.1219C>Tp.Gln407* | p.Q407XNM_000271.3:c.1219C>T, NM_000271.4:c.1219C>T, XM_005258277.1:c.1270C>T, XM_005258278.1:c.1270C>T, XM_005258279.1:c.1219C>T, XM_005258280.1:c.805C>TPathogenic10/25/2016 
110NPC1Ex8NM_000271.4:c.1221G>Cp.Gln407His | p.Q407HNM_000271.3:c.1221G>C, NM_000271.4:c.1221G>C, XM_005258277.1:c.1272G>C, XM_005258279.1:c.1221G>C, XM_005258280.1:c.807G>CVOUS03/14/2018
111NPC1Ex8NM_000271.4:c.1224C>Tp.Leu408= | p.L408=NM_000271.3:c.1224C>T, NM_000271.4:c.1224C>T, XM_005258277.1:c.1275C>T, XM_005258278.1:c.1275C>T, XM_005258279.1:c.1224C>T, XM_005258280.1:c.810C>TVOUS06/11/2018
112NPC1Ex8NM_000271.4:c.1232G>Ap.Arg411Gln | p.R411QNM_000271.3:c.1232G>A, NM_000271.4:c.1232G>A, XM_005258277.1:c.1283G>A, XM_005258278.1:c.1283G>A, XM_005258279.1:c.1232G>A, XM_005258280.1:c.818G>ABenign06/18/2015 
113NPC1Ex8NM_000271.4:c.1274C>Tp.Ser425Leu | p.S425LNM_000271.3:c.1274C>T, NM_000271.4:c.1274C>T, XM_005258277.1:c.1325C>T, XM_005258278.1:c.1325C>T, XM_005258279.1:c.1274C>T, XM_005258280.1:c.860C>TVOUS05/08/2019
114NPC1Ex8NM_000271.4:c.1275G>Ap.Ser425= | p.S425=NM_000271.3:c.1275G>A, NM_000271.4:c.1275G>A, XM_005258277.1:c.1326G>A, XM_005258278.1:c.1326G>A, XM_005258279.1:c.1275G>A, XM_005258280.1:c.861G>AVOUS11/05/2019
115NPC1Ex8NM_000271.4:c.1298C>Tp.Pro433Leu | p.P433LNM_000271.3:c.1298C>T, NM_000271.4:c.1298C>T, XM_005258277.1:c.1349C>T, XM_005258278.1:c.1349C>T, XM_005258279.1:c.1298C>T, XM_005258280.1:c.884C>TVOUS01/07/2020
116NPC1Ex8NM_000271.4:c.1300C>Tp.Pro434Ser | p.P434SBenign04/29/2013 
117NPC1Ex8NM_000271.4:c.1301C>Gp.Pro434Arg | p.P434RNM_000271.3:c.1301C>G, NM_000271.4:c.1301C>G, XM_005258277.1:c.1352C>G, XM_005258278.1:c.1352C>G, XM_005258279.1:c.1301C>G, XM_005258280.1:c.887C>GVOUS05/25/2017
118NPC1Ex8NM_000271.4:c.1315A>Gp.Ile439Val | p.I439VNM_000271.3:c.1315A>G, NM_000271.4:c.1315A>G, XM_005258277.1:c.1366A>G, XM_005258278.1:c.1366A>G, XM_005258279.1:c.1315A>G, XM_005258280.1:c.901A>GVOUS09/27/2018
119NPC1Ex9NM_000271.4:c.1327-7_1327-5delCTTVOUS07/02/2019
120NPC1Ex9NM_000271.4:c.1348A>Gp.Ile450Val | p.I450VNM_000271.3:c.1348A>G, NM_000271.4:c.1348A>G, XM_005258277.1:c.1399A>G, XM_005258278.1:c.1399A>G, XM_005258279.1:c.1348A>G, XM_005258280.1:c.934A>GVOUS05/17/2018
121NPC1Ex9NM_000271.4:c.1351G>Ap.Glu451Lys | p.E451KNM_000271.3:c.1351G>A, NM_000271.4:c.1351G>A, XM_005258277.1:c.1402G>A, XM_005258278.1:c.1402G>A, XM_005258279.1:c.1351G>A, XM_005258280.1:c.937G>AVOUS10/05/2020
122NPC1Ex9NM_000271.4:c.1402T>Gp.Cys468Gly | p.C468GNM_000271.3:c.1402T>G, NM_000271.4:c.1402T>G, XM_005258277.1:c.1453T>G, XM_005258278.1:c.1453T>G, XM_005258279.1:c.1402T>G, XM_005258280.1:c.988T>GVOUS08/20/2020
123NPC1Ex9NM_000271.4:c.1422G>Ap.Pro474= | p.P474=NM_000271.3:c.1422G>A, NM_000271.4:c.1422G>A, XM_005258277.1:c.1473G>A, XM_005258278.1:c.1473G>A, XM_005258279.1:c.1422G>A, XM_005258280.1:c.1008G>AVOUS01/14/2021
124NPC1Ex9NM_000271.4:c.1431G>Ap.Thr477= | p.T477=NM_000271.3:c.1431G>A, NM_000271.4:c.1431G>A, XM_005258277.1:c.1482G>A, XM_005258278.1:c.1482G>A, XM_005258279.1:c.1431G>A, XM_005258280.1:c.1017G>AVOUS11/27/2018
125NPC1Ex9NM_000271.4:c.1436G>Ap.Cys479Tyr | p.C479YNM_000271.3:c.1436G>A, NM_000271.4:c.1436G>A, XM_005258277.1:c.1487G>A, XM_005258278.1:c.1487G>A, XM_005258279.1:c.1436G>A, XM_005258280.1:c.1022G>AVOUS08/10/2017
126NPC1Ex9NM_000271.4:c.1480G>Ap.Val494Met | p.V494MNM_000271.3:c.1480G>A, NM_000271.4:c.1480G>A, XM_005258277.1:c.1531G>A, XM_005258278.1:c.1531G>A, XM_005258279.1:c.1480G>A, XM_005258280.1:c.1066G>ALikely benign03/04/2021 
127NPC1Ex9NM_000271.4:c.1492A>Gp.Lys498Glu | p.K498EVOUS02/10/2021
128NPC1Ex9NM_000271.4:c.1501G>Tp.Asp501Tyr | p.D501YVOUS**
129NPC1Ex9NM_000271.4:c.1503C>Tp.Asp501= | p.D501=NM_000271.3:c.1503C>T, NM_000271.4:c.1503C>T, XM_005258277.1:c.1554C>T, XM_005258278.1:c.1554C>T, XM_005258279.1:c.1503C>T, XM_005258280.1:c.1089C>TBenign05/21/2014 
130NPC1Ex9NM_000271.4:c.1504G>Ap.Asp502Asn | p.D502NNM_000271.3:c.1504G>A, NM_000271.4:c.1504G>A, XM_005258277.1:c.1555G>A, XM_005258278.1:c.1555G>A, XM_005258279.1:c.1504G>A, XM_005258280.1:c.1090G>AVOUS09/26/2017
131NPC1Ex9NM_000271.4:c.1507T>Gp.Phe503Val | p.F503VVOUS**
132NPC1Ex9NM_000271.4:c.1508T>Ap.Phe503Tyr | p.F503YVOUS**
133NPC1Ex9NM_000271.4:c.1521C>Tp.Ala507= | p.A507=NM_000271.3:c.1521C>T, NM_000271.4:c.1521C>T, XM_005258277.1:c.1572C>T, XM_005258278.1:c.1572C>T, XM_005258279.1:c.1521C>T, XM_005258280.1:c.1107C>TVOUS03/22/2018
134NPC1Ex9NM_000271.4:c.1532C>Tp.Thr511Met | p.T511MNM_000271.3:c.1532C>T, NM_000271.4:c.1532C>T, XM_005258277.1:c.1583C>T, XM_005258278.1:c.1583C>T, XM_005258279.1:c.1532C>T, XM_005258280.1:c.1118C>TBenign04/08/2019 
135NPC1Ex9NM_000271.4:c.1533G>Ap.Thr511= | p.T511=NM_000271.3:c.1533G>A, NM_000271.4:c.1533G>A, XM_005258277.1:c.1584G>A, XM_005258278.1:c.1584G>A, XM_005258279.1:c.1533G>A, XM_005258280.1:c.1119G>AVOUS09/07/2017
136NPC1Ex9NM_000271.4:c.1535A>Gp.His512Arg | p.H512RNM_000271.3:c.1535A>G, NM_000271.4:c.1535A>G, XM_005258277.1:c.1586A>G, XM_005258278.1:c.1586A>G, XM_005258279.1:c.1535A>G, XM_005258280.1:c.1121A>GVOUS01/02/2018
137NPC1Ex9NM_000271.4:c.1542G>Ap.Leu514= | p.L514=NM_000271.3:c.1542G>A, NM_000271.4:c.1542G>A, XM_005258277.1:c.1593G>A, XM_005258278.1:c.1593G>A, XM_005258279.1:c.1542G>A, XM_005258280.1:c.1128G>AVOUS08/11/2016
138NPC1Ex9NM_000271.4:c.1544A>Gp.Tyr515Cys | p.Y515CNM_000271.3:c.1544A>G, NM_000271.4:c.1544A>G, XM_005258277.1:c.1595A>G, XM_005258278.1:c.1595A>G, XM_005258279.1:c.1544A>G, XM_005258280.1:c.1130A>GVOUS01/22/2019
139NPC1Ex9NM_000271.4:c.1547G>Ap.Cys516Tyr | p.C516YNM_000271.3:c.1547G>A, NM_000271.4:c.1547G>A, XM_005258277.1:c.1598G>A, XM_005258278.1:c.1598G>A, XM_005258279.1:c.1547G>A, XM_005258280.1:c.1133G>AVOUS01/21/2020
140NPC1Ex9NM_000271.4:c.1549G>Ap.Val517Ile | p.V517INM_000271.3:c.1549G>A, NM_000271.4:c.1549G>A, XM_005258277.1:c.1600G>A, XM_005258278.1:c.1600G>A, XM_005258279.1:c.1549G>A, XM_005258280.1:c.1135G>AVOUS01/12/2021
141NPC1Ex9NM_000271.4:c.1553G>Ap.Arg518Gln | p.R518QNM_000271.3:c.1553G>A, NM_000271.4:c.1553G>A, XM_005258277.1:c.1604G>A, XM_005258278.1:c.1604G>A, XM_005258279.1:c.1553G>A, XM_005258280.1:c.1139G>APathogenic01/29/2016 
142NPC1Ex10NM_000271.4:c.1554-1009G>APathogenic02/26/2021 
143NPC1Ex10NM_000271.4:c.1561G>Ap.Ala521Thr | p.A521TNM_000271.3:c.1561G>A, NM_000271.4:c.1561G>A, XM_005258277.1:c.1612G>A, XM_005258278.1:c.1612G>A, XM_005258279.1:c.1561G>A, XM_005258280.1:c.1147G>AVOUS07/05/2018
144NPC1Ex10NM_000271.4:c.1561G>Tp.Ala521Ser | p.A521SNM_000271.3:c.1561G>T, NM_000271.4:c.1561G>T, XM_005258277.1:c.1612G>T, XM_005258278.1:c.1612G>T, XM_005258279.1:c.1561G>T, XM_005258280.1:c.1147G>TVOUS01/26/2021
145NPC1Ex10NM_000271.4:c.1579A>Gp.Ser527Gly | p.S527GNM_000271.3:c.1579A>G, NM_000271.4:c.1579A>G, XM_005258277.1:c.1630A>G, XM_005258278.1:c.1630A>G, XM_005258279.1:c.1579A>G, XM_005258280.1:c.1165A>GVOUS09/29/2017
146NPC1Ex10NM_000271.4:c.1618C>Tp.Pro540Ser | p.P540SNM_000271.3:c.1618C>T, NM_000271.4:c.1618C>T, XM_005258277.1:c.1669C>T, XM_005258278.1:c.1669C>T, XM_005258279.1:c.1618C>T, XM_005258280.1:c.1204C>TVOUS06/21/2016
147NPC1Ex10NM_000271.4:c.1628delCp.Pro543Argfs*20 | p.P543RfsX20NM_000271.3:c.1628delC, NM_000271.4:c.1628delC, XM_005258277.1:c.1679delC, XM_005258278.1:c.1679delC, XM_005258279.1:c.1628delC, XM_005258280.1:c.1214delCPathogenic10/11/2017 
148NPC1Ex10NM_000271.4:c.1628C>Tp.Pro543Leu | p.P543LPathogenic** 
149NPC1Ex10NM_000271.4:c.1654G>Tp.Asp552Tyr | p.D552YNM_000271.3:c.1654G>T, NM_000271.4:c.1654G>T, XM_005258277.1:c.1705G>T, XM_005258278.1:c.1705G>T, XM_005258279.1:c.1654G>T, XM_005258280.1:c.1240G>TVOUS08/06/2020
150NPC1Ex11NM_000271.4:c.1667A>Gp.Asn556Ser | p.N556SNM_000271.3:c.1667A>G, NM_000271.4:c.1667A>G, XM_005258277.1:c.1718A>G, XM_005258278.1:c.1718A>G, XM_005258279.1:c.1667A>G, XM_005258280.1:c.1253A>GVOUS04/08/2019
151NPC1Ex11NM_000271.4:c.1671C>Tp.Asn557= | p.N557=NM_000271.3:c.1671C>T, NM_000271.4:c.1671C>T, XM_005258277.1:c.1722C>T, XM_005258278.1:c.1722C>T, XM_005258279.1:c.1671C>T, XM_005258280.1:c.1257C>TVOUS03/21/2017
152NPC1Ex11NM_000271.4:c.1695C>Tp.Phe565= | p.F565=NM_000271.3:c.1695C>T, NM_000271.4:c.1695C>T, XM_005258277.1:c.1746C>T, XM_005258278.1:c.1746C>T, XM_005258279.1:c.1695C>T, XM_005258280.1:c.1281C>TLikely benign02/27/2020 
153NPC1Ex11NM_000271.4:c.1712A>Gp.Tyr571Cys | p.Y571CNM_000271.3:c.1712A>G, NM_000271.4:c.1712A>G, XM_005258277.1:c.1763A>G, XM_005258278.1:c.1763A>G, XM_005258279.1:c.1712A>G, XM_005258280.1:c.1298A>GVOUS02/18/2019
154NPC1Ex11NM_000271.4:c.1757+7dupCVOUS03/10/2021
155NPC1Ex12NM_000271.4:c.1764T>Cp.Ile588= | p.I588=NM_000271.3:c.1764T>C, NM_000271.4:c.1764T>C, XM_005258277.1:c.1815T>C, XM_005258278.1:c.1815T>C, XM_005258279.1:c.1764T>C, XM_005258280.1:c.1350T>CVOUS08/16/2017
156NPC1Ex12NM_000271.4:c.1766A>Gp.Asn589Ser | p.N589SNM_000271.3:c.1766A>G, NM_000271.4:c.1766A>G, XM_005258277.1:c.1817A>G, XM_005258278.1:c.1817A>G, XM_005258279.1:c.1766A>G, XM_005258280.1:c.1352A>GVOUS06/04/2020
157NPC1Ex12NM_000271.4:c.1778A>Cp.Asn593Thr | p.N593TNM_000271.3:c.1778A>C, NM_000271.4:c.1778A>C, XM_005258277.1:c.1829A>C, XM_005258278.1:c.1829A>C, XM_005258279.1:c.1778A>C, XM_005258280.1:c.1364A>CVOUS11/14/2019
158NPC1Ex12NM_000271.4:c.1819C>Ap.Arg607= | p.R607=NM_000271.3:c.1819C>A, NM_000271.4:c.1819C>A, XM_005258277.1:c.1870C>A, XM_005258278.1:c.1870C>A, XM_005258279.1:c.1819C>A, XM_005258280.1:c.1405C>AVOUS08/20/2020
159NPC1Ex12NM_000271.4:c.1820G>Ap.Arg607Gln | p.R607QNM_000271.3:c.1820G>A, NM_000271.4:c.1820G>A, XM_005258277.1:c.1871G>A, XM_005258278.1:c.1871G>A, XM_005258279.1:c.1820G>A, XM_005258280.1:c.1406G>AVOUS12/07/2020
160NPC1Ex12NM_000271.4:c.1870G>Ap.Val624Ile | p.V624INM_000271.3:c.1870G>A, NM_000271.4:c.1870G>A, XM_005258277.1:c.1921G>A, XM_005258278.1:c.1921G>A, XM_005258279.1:c.1870G>A, XM_005258280.1:c.1456G>AVOUS03/15/2018
161NPC1Ex12NM_000271.4:c.1883A>Gp.Tyr628Cys | p.Y628CVOUS**
162NPC1Ex12NM_000271.4:c.1901A>Tp.Tyr634Phe | p.Y634FNM_000271.3:c.1901A>T, NM_000271.4:c.1901A>T, XM_005258277.1:c.1952A>T, XM_005258278.1:c.1952A>T, XM_005258279.1:c.1901A>T, XM_005258280.1:c.1487A>TVOUS06/09/2020
163NPC1Ex12NM_000271.4:c.1920delGNM_000271.3:c.1920delG, NM_000271.4:c.1920delG, XM_005258277.1:c.1971delG, XM_005258278.1:c.1971delG, XM_005258279.1:c.1920delG, XM_005258280.1:c.1506delGPathogenic07/24/2015 
164NPC1Ex12NM_000271.4:c.1926G>Cp.Met642Ile | p.M642INM_000271.3:c.1926G>C, NM_000271.4:c.1926G>C, XM_005258277.1:c.1977G>C, XM_005258278.1:c.1977G>C, XM_005258279.1:c.1926G>C, XM_005258280.1:c.1512G>CBenign11/21/2017 
165NPC1Ex12NM_000271.4:c.1937G>Ap.Arg646His | p.R646HNM_000271.3:c.1937G>A, NM_000271.4:c.1937G>A, XM_005258277.1:c.1988G>A, XM_005258278.1:c.1988G>A, XM_005258279.1:c.1937G>A, XM_005258280.1:c.1523G>AVOUS01/21/2020
166NPC1Ex12NM_000271.4:c.1947+5G>CNM_000271.3:c.1947+5G>C, NM_000271.4:c.1947+5G>C, XM_005258277.1:c.1998+5G>C, XM_005258278.1:c.1998+5G>C, XM_005258279.1:c.1947+5G>C, XM_005258280.1:c.1533+5G>CLikely pathogenic02/20/2018 
167NPC1Ex12NM_000271.4:c.1947+7_1947+8insCGGGNM_000271.3:c.1947+7_1947+8insCGGG, NM_000271.4:c.1947+7_1947+8insCGGG, XM_005258277.1:c.1998+7_1998+8insCGGG, XM_005258278.1:c.1998+7_1998+8insCGGG, XM_005258279.1:c.1947+7_1947+8insCGGG, XM_005258280.1:c.1533+7_1533+8insCGGGLikely benign11/11/2015 
168NPC1Ex12NM_000271.4:c.1947+7dupCNM_000271.3:c.1947+7_1947+8insC, NM_000271.4:c.1947+7_1947+8insC, XM_005258277.1:c.1998+7_1998+8insC, XM_005258278.1:c.1998+7_1998+8insC, XM_005258279.1:c.1947+7_1947+8insC, XM_005258280.1:c.1533+7_1533+8insCBenign02/17/2015 
169NPC1Ex12NM_000271.4:c.1947+7_1947+8insCGGNM_000271.3:c.1947+7_1947+8insCGG, NM_000271.4:c.1947+7_1947+8insCGG, XM_005258277.1:c.1998+7_1998+8insCGG, XM_005258278.1:c.1998+7_1998+8insCGG, XM_005258279.1:c.1947+7_1947+8insCGG, XM_005258280.1:c.1533+7_1533+8insCGGVOUS02/08/2021
170NPC1Ex12NM_000271.4:c.1947+7_1947+8insCGGGGNM_000271.3:c.1947+7_1947+8insCGGGG, NM_000271.4:c.1947+7_1947+8insCGGGG, XM_005258277.1:c.1998+7_1998+8insCGGGG, XM_005258278.1:c.1998+7_1998+8insCGGGG, XM_005258279.1:c.1947+7_1947+8insCGGGG, XM_005258280.1:c.1533+7_1533+8insCGGGGLikely benign04/10/2020 
171NPC1Ex12NM_000271.4:c.1947+7_1947+8insCGGCGNM_000271.3:c.1947+7_1947+8insCGGCG, NM_000271.4:c.1947+7_1947+8insCGGCG, XM_005258277.1:c.1998+7_1998+8insCGGCG, XM_005258278.1:c.1998+7_1998+8insCGGCG, XM_005258279.1:c.1947+7_1947+8insCGGCG, XM_005258280.1:c.1533+7_1533+8insCGGCGVOUS08/05/2016
172NPC1Ex12NM_000271.4:c.1947+7_1947+8insCAGGVOUS02/15/2021
173NPC1Ex12NM_000271.4:c.1947+7C>TVOUS05/28/2020
174NPC1Ex12NM_000271.4:c.1947+8G>CNM_000271.3:c.1947+8G>C, NM_000271.4:c.1947+8G>CBenign09/22/2015 
175NPC1Ex12NM_000271.4:c.1947+9_1947+10insCGGGGVOUS02/27/2021
176NPC1Ex12NM_000271.4:c.1947+9_1947+10insCNM_000271.3:c.1947+9_1947+10insC, NM_000271.4:c.1947+9_1947+10insC, XM_005258277.1:c.1998+9_1998+10insC, XM_005258278.1:c.1998+9_1998+10insC, XM_005258279.1:c.1947+9_1947+10insC, XM_005258280.1:c.1533+9_1533+10insCBenign08/20/2018 
177NPC1Ex12NM_000271.4:c.1947+9_1947+10insAGGGNM_000271.3:c.1947+9_1947+10insAGGG, NM_000271.4:c.1947+9_1947+10insAGGG, XM_005258277.1:c.1998+9_1998+10insAGGG, XM_005258278.1:c.1998+9_1998+10insAGGG, XM_005258279.1:c.1947+9_1947+10insAGGG, XM_005258280.1:c.1533+9_1533+10insAGGGBenign12/20/2018 
178NPC1Ex12NM_000271.4:c.1947+9_1947+10insTNM_000271.3:c.1947+9_1947+10insT, NM_000271.4:c.1947+9_1947+10insT, XM_005258277.1:c.1998+9_1998+10insT, XM_005258278.1:c.1998+9_1998+10insT, XM_005258279.1:c.1947+9_1947+10insT, XM_005258280.1:c.1533+9_1533+10insTLikely benign08/07/2019 
179NPC1Ex12NM_000271.4:c.1947+10_1947+11insCGGNM_000271.3:c.1947+10_1947+11insCGG, NM_000271.4:c.1947+10_1947+11insCGG, XM_005258277.1:c.1998+10_1998+11insCGG, XM_005258278.1:c.1998+10_1998+11insCGG, XM_005258279.1:c.1947+10_1947+11insCGG, XM_005258280.1:c.1533+10_1533+11insCGGVOUS12/27/2016
180NPC1Ex12NM_000271.4:c.1947+10G>TNM_000271.3:c.1947+10G>T, NM_000271.4:c.1947+10G>T, XM_005258277.1:c.1998+10G>T, XM_005258278.1:c.1998+10G>T, XM_005258279.1:c.1947+10G>T, XM_005258280.1:c.1533+10G>TVOUS09/03/2020
181NPC1Ex12NM_000271.4:c.1947+10_1947+11insTNM_000271.3:c.1947+10_1947+11insT, NM_000271.4:c.1947+10_1947+11insT, XM_005258277.1:c.1998+10_1998+11insT, XM_005258278.1:c.1998+10_1998+11insT, XM_005258279.1:c.1947+10_1947+11insT, XM_005258280.1:c.1533+10_1533+11insTLikely benign05/17/2018 
182NPC1Ex12NM_000271.4:c.1947+10_1947+11insCGGGGVOUS08/18/2020
183NPC1Ex12NM_000271.4:c.1947+10_1947+11insTGGGVOUS02/01/2020
184NPC1Ex12NM_000271.4:c.1947+10_1947+11insCLikely benign10/12/2020 
185NPC1Ex12NM_000271.4:c.1947+10G>ANM_000271.3:c.1947+10G>A, NM_000271.4:c.1947+10G>A, XM_005258277.1:c.1998+10G>A, XM_005258278.1:c.1998+10G>A, XM_005258279.1:c.1947+10G>A, XM_005258280.1:c.1533+10G>ABenign07/23/2015 
186NPC1Ex12NM_000271.4:c.1947+10G>CNM_000271.3:c.1947+10G>C, NM_000271.4:c.1947+10G>C, XM_005258277.1:c.1998+10G>C, XM_005258278.1:c.1998+10G>C, XM_005258279.1:c.1947+10G>C, XM_005258280.1:c.1533+10G>CBenign02/22/2013 
187NPC1Ex12NM_000271.4:c.1947+13_1947+16dupGGGGBenign04/05/2013 
188NPC1Ex12NM_000271.4:c.1947+14_1947+15insCNM_000271.3:c.1947+14_1947+15insC, NM_000271.4:c.1947+14_1947+15insC, XM_005258277.1:c.1998+14_1998+15insC, XM_005258278.1:c.1998+14_1998+15insC, XM_005258279.1:c.1947+14_1947+15insC, XM_005258280.1:c.1533+14_1533+15insCVOUS02/06/2017
189NPC1Ex12NM_000271.4:c.1947+14_1947+17delTGGVOUS**
190NPC1Ex12NM_000271.4:c.1947+14G>TBenign03/14/2013 
191NPC1Ex12NM_000271.4:c.1947+16dupGNM_000271.3:c.1947+15_1947+16insG, NM_000271.3:c.1947+16dupG, NM_000271.4:c.1947+15_1947+16insG, NM_000271.4:c.1947+16dupG, XM_005258277.1:c.1998+15_1998+16insG, XM_005258277.1:c.1998+16dupG, XM_005258278.1:c.1998+15_1998+16insG, XM_005258278.1:c.1998+16dupG, XM_005258279.1:c.1947+15_1947+16insG, XM_005258279.1:c.1947+16dupG, XM_005258280.1:c.1533+15_1533+16insG, XM_005258280.1:c.1533+16dupGBenign12/01/2014 
192NPC1Ex12NM_000271.4:c.1947+17delTNM_000271.3:c.1947+17delT, NM_000271.4:c.1947+17delT, XM_005258277.1:c.1998+17delT, XM_005258278.1:c.1998+17delT, XM_005258279.1:c.1947+17delT, XM_005258280.1:c.1533+17delTVOUS**
193NPC1Ex12NM_000271.4:c.1947+23A>GVOUS**
194NPC1Ex13NM_000271.4:c.1948-5C>TVOUS06/05/2019
195NPC1Ex13NM_000271.4:c.1989C>Gp.Ile663Met | p.I663MNM_000271.3:c.1989C>G, NM_000271.4:c.1989C>G, XM_005258277.1:c.2040C>G, XM_005258278.1:c.2040C>G, XM_005258279.1:c.1989C>G, XM_005258280.1:c.1575C>GVOUS03/22/2018
196NPC1Ex13NM_000271.4:c.1990G>Ap.Val664Met | p.V664MNM_000271.3:c.1990G>A, NM_000271.4:c.1990G>A, XM_005258277.1:c.2041G>A, XM_005258278.1:c.2041G>A, XM_005258279.1:c.1990G>A, XM_005258280.1:c.1576G>ALikely pathogenic02/21/2019 
197NPC1Ex13NM_000271.4:c.1998C>Tp.Ser666= | p.S666=NM_000271.3:c.1998C>T, NM_000271.4:c.1998C>T, XM_005258277.1:c.2049C>T, XM_005258278.1:c.2049C>T, XM_005258279.1:c.1998C>T, XM_005258280.1:c.1584C>TVOUS06/11/2019
198NPC1Ex13NM_000271.4:c.2000C>Tp.Ser667Leu | p.S667LNM_000271.3:c.2000C>T, NM_000271.4:c.2000C>T, XM_005258277.1:c.2051C>T, XM_005258278.1:c.2051C>T, XM_005258279.1:c.2000C>T, XM_005258280.1:c.1586C>TPathogenic09/23/2019 
199NPC1Ex13NM_000271.4:c.2006delCp.Ala669Valfs*14 | p.A669VfsX14NM_000271.3:c.2006delC, NM_000271.4:c.2006delC, XM_005258277.1:c.2057delC, XM_005258278.1:c.2057delC, XM_005258279.1:c.2006delC, XM_005258280.1:c.1592delCPathogenic08/22/2019 
200NPC1Ex13NM_000271.4:c.2032A>Gp.Ile678Val | p.I678VNM_000271.3:c.2032A>G, NM_000271.4:c.2032A>G, XM_005258277.1:c.2083A>G, XM_005258278.1:c.2083A>G, XM_005258279.1:c.2032A>G, XM_005258280.1:c.1618A>GVOUS04/12/2018
201NPC1Ex13NM_000271.4:c.2071C>Gp.Pro691Ala | p.P691ANM_000271.3:c.2071C>G, NM_000271.4:c.2071C>G, XM_005258277.1:c.2122C>G, XM_005258278.1:c.2122C>G, XM_005258279.1:c.2071C>G, XM_005258280.1:c.1657C>GVOUS10/17/2019
202NPC1Ex13NM_000271.4:c.2072C>Tp.Pro691Leu | p.P691LPathogenic** 
203NPC1Ex13NM_000271.4:c.2073G>Ap.Pro691= | p.P691=NM_000271.3:c.2073G>A, NM_000271.4:c.2073G>A, XM_005258277.1:c.2124G>A, XM_005258278.1:c.2124G>A, XM_005258279.1:c.2073G>A, XM_005258280.1:c.1659G>ABenign05/20/2015 
204NPC1Ex13NM_000271.4:c.2085G>Ap.Leu695= | p.L695=NM_000271.3:c.2085G>A, NM_000271.4:c.2085G>A, XM_005258277.1:c.2136G>A, XM_005258278.1:c.2136G>A, XM_005258279.1:c.2085G>A, XM_005258280.1:c.1671G>AVOUS02/06/2018
205NPC1Ex13NM_000271.4:c.2103C>Tp.Asn701= | p.N701=NM_000271.3:c.2103C>T, NM_000271.4:c.2103C>T, XM_005258277.1:c.2154C>T, XM_005258278.1:c.2154C>T, XM_005258279.1:c.2103C>T, XM_005258280.1:c.1689C>TBenign05/21/2014 
206NPC1Ex13NM_000271.4:c.2126A>Tp.Tyr709Phe | p.Y709FNM_000271.3:c.2126A>T, NM_000271.4:c.2126A>T, XM_005258277.1:c.2177A>T, XM_005258278.1:c.2177A>T, XM_005258279.1:c.2126A>T, XM_005258280.1:c.1712A>TVOUS06/29/2020
207NPC1Ex14NM_000271.4:c.2131-6_2131-4delTTTNM_000271.3:c.2131-6_2131-4delTTT, NM_000271.4:c.2131-6_2131-4delTTT, XM_005258277.1:c.2182-6_2182-4delTTT, XM_005258278.1:c.2182-6_2182-4delTTT, XM_005258279.1:c.2131-6_2131-4delTTT, XM_005258280.1:c.1717-6_1717-4delTTTBenign07/23/2015 
208NPC1Ex14NM_000271.4:c.2131-4dupTLikely benign06/18/2020 
209NPC1Ex14NM_000271.4:c.2141G>Ap.Arg714His | p.R714HNM_000271.3:c.2141G>A, NM_000271.4:c.2141G>A, XM_005258277.1:c.2192G>A, XM_005258278.1:c.2192G>A, XM_005258279.1:c.2141G>A, XM_005258280.1:c.1727G>AVOUS07/05/2018
210NPC1Ex14NM_000271.4:c.2178G>Ap.Arg726= | p.R726=NM_000271.3:c.2178G>A, NM_000271.4:c.2178G>A, XM_005258277.1:c.2229G>A, XM_005258278.1:c.2229G>A, XM_005258279.1:c.2178G>A, XM_005258280.1:c.1764G>AVOUS09/17/2020
211NPC1Ex14NM_000271.4:c.2196dupTPathogenic07/23/2012 
212NPC1Ex14NM_000271.4:c.2199C>Tp.Pro733= | p.P733=NM_000271.3:c.2199C>T, NM_000271.4:c.2199C>T, XM_005258277.1:c.2250C>T, XM_005258278.1:c.2250C>T, XM_005258279.1:c.2199C>T, XM_005258280.1:c.1785C>TVOUS08/22/2018
213NPC1Ex14NM_000271.4:c.2201G>Tp.Ser734Ile | p.S734INM_000271.3:c.2201G>T, NM_000271.4:c.2201G>T, XM_005258277.1:c.2252G>T, XM_005258278.1:c.2252G>T, XM_005258279.1:c.2201G>T, XM_005258280.1:c.1787G>TPathogenic12/21/2017 
214NPC1Ex14NM_000271.4:c.2245+14C>TVOUS**
215NPC1Ex15NM_000271.4:c.2246-5G>ANM_000271.3:c.2246-5G>A, NM_000271.4:c.2246-5G>A, XM_005258277.1:c.2297-5G>A, XM_005258278.1:c.2297-5G>A, XM_005258279.1:c.2246-5G>A, XM_005258280.1:c.1832-5G>AVOUS05/13/2016
216NPC1Ex15NM_000271.4:c.2246-5G>CVOUS09/03/2020
217NPC1Ex15NM_000271.4:c.2257G>Ap.Val753Met | p.V753MNM_000271.3:c.2257G>A, NM_000271.4:c.2257G>A, XM_005258277.1:c.2308G>A, XM_005258278.1:c.2308G>A, XM_005258279.1:c.2257G>A, XM_005258280.1:c.1843G>AVOUS06/11/2019
218NPC1Ex15NM_000271.4:c.2269G>Ap.Val757Met | p.V757MNM_000271.3:c.2269G>A, NM_000271.4:c.2269G>A, XM_005258277.1:c.2320G>A, XM_005258278.1:c.2320G>A, XM_005258279.1:c.2269G>A, XM_005258280.1:c.1855G>AVOUS02/12/2019
219NPC1Ex15NM_000271.4:c.2275A>Gp.Thr759Ala | p.T759ANM_000271.3:c.2275A>G, NM_000271.4:c.2275A>G, XM_005258277.1:c.2326A>G, XM_005258278.1:c.2326A>G, XM_005258279.1:c.2275A>G, XM_005258280.1:c.1861A>GVOUS05/12/2016
220NPC1Ex15NM_000271.4:c.2292G>Ap.Ala764= | p.A764=NM_000271.3:c.2292G>A, NM_000271.4:c.2292G>A, XM_005258277.1:c.2343G>A, XM_005258278.1:c.2343G>A, XM_005258279.1:c.2292G>A, XM_005258280.1:c.1878G>AVOUS08/08/2017
221NPC1Ex15NM_000271.4:c.2304C>Tp.Val768= | p.V768=NM_000271.3:c.2304C>T, NM_000271.4:c.2304C>T, XM_005258277.1:c.2355C>T, XM_005258278.1:c.2355C>T, XM_005258279.1:c.2304C>T, XM_005258280.1:c.1890C>TVOUS04/17/2019
222NPC1Ex15NM_000271.4:c.2314T>Gp.Phe772Val | p.F772VNM_000271.3:c.2314T>G, NM_000271.4:c.2314T>G, XM_005258277.1:c.2365T>G, XM_005258278.1:c.2365T>G, XM_005258279.1:c.2314T>G, XM_005258280.1:c.1900T>GVOUS11/07/2017
223NPC1Ex15NM_000271.4:c.2337C>Tp.Phe779= | p.F779=NM_000271.3:c.2337C>T, NM_000271.4:c.2337C>T, XM_005258277.1:c.2388C>T, XM_005258278.1:c.2388C>T, XM_005258279.1:c.2337C>T, XM_005258280.1:c.1923C>TVOUS11/29/2018
224NPC1Ex15NM_000271.4:c.2338G>Ap.Val780Met | p.V780MNM_000271.3:c.2338G>A, NM_000271.4:c.2338G>A, XM_005258277.1:c.2389G>A, XM_005258278.1:c.2389G>A, XM_005258279.1:c.2338G>A, XM_005258280.1:c.1924G>AVOUS11/12/2018
225NPC1Ex15NM_000271.4:c.2347T>Cp.Leu783= | p.L783=NM_000271.3:c.2347T>C, NM_000271.4:c.2347T>C, XM_005258277.1:c.2398T>C, XM_005258278.1:c.2398T>C, XM_005258279.1:c.2347T>C, XM_005258280.1:c.1933T>CVOUS07/11/2019
226NPC1Ex16NM_000271.4:c.2381G>Ap.Arg794Gln | p.R794QNM_000271.3:c.2381G>A, NM_000271.4:c.2381G>A, XM_005258277.1:c.2432G>A, XM_005258278.1:c.2432G>A, XM_005258279.1:c.2381G>A, XM_005258280.1:c.1967G>AVOUS06/03/2019
227NPC1Ex16NM_000271.4:c.2428G>Ap.Val810Ile | p.V810INM_000271.3:c.2428G>A, NM_000271.4:c.2428G>A, XM_005258277.1:c.2479G>A, XM_005258278.1:c.2479G>A, XM_005258279.1:c.2428G>A, XM_005258280.1:c.2014G>AVOUS12/22/2020
228NPC1Ex16NM_000271.4:c.2428G>Tp.Val810Phe | p.V810FNM_000271.3:c.2428G>T, NM_000271.4:c.2428G>T, XM_005258277.1:c.2479G>T, XM_005258278.1:c.2479G>T, XM_005258279.1:c.2428G>T, XM_005258280.1:c.2014G>TVOUS12/14/2020
229NPC1Ex16NM_000271.4:c.2449T>Cp.Leu817= | p.L817=NM_000271.3:c.2449T>C, NM_000271.4:c.2449T>C, XM_005258277.1:c.2500T>C, XM_005258278.1:c.2500T>C, XM_005258279.1:c.2449T>C, XM_005258280.1:c.2035T>CVOUS06/15/2017
230NPC1Ex16NM_000271.4:c.2455C>Ap.Arg819Ser | p.R819SNM_000271.3:c.2455C>A, NM_000271.4:c.2455C>A, XM_005258277.1:c.2506C>A, XM_005258278.1:c.2506C>A, XM_005258279.1:c.2455C>A, XM_005258280.1:c.2041C>AVOUS03/29/2016
231NPC1Ex16NM_000271.4:c.2455C>Tp.Arg819Cys | p.R819CNM_000271.3:c.2455C>T, NM_000271.4:c.2455C>T, XM_005258277.1:c.2506C>T, XM_005258278.1:c.2506C>T, XM_005258279.1:c.2455C>T, XM_005258280.1:c.2041C>TVOUS02/15/2021
232NPC1Ex16NM_000271.4:c.2465A>Gp.Lys822Arg | p.K822RNM_000271.3:c.2465A>G, NM_000271.4:c.2465A>G, XM_005258277.1:c.2516A>G, XM_005258278.1:c.2516A>G, XM_005258279.1:c.2465A>G, XM_005258280.1:c.2051A>GVOUS09/28/2018
233NPC1Ex16NM_000271.4:c.2472C>Gp.Ser824= | p.S824=NM_000271.3:c.2472C>G, NM_000271.4:c.2472C>G, XM_005258277.1:c.2523C>G, XM_005258278.1:c.2523C>G, XM_005258279.1:c.2472C>G, XM_005258280.1:c.2058C>GVOUS05/17/2018
234NPC1Ex16NM_000271.4:c.2474A>Gp.Tyr825Cys | p.Y825CNM_000271.3:c.2474A>G, NM_000271.4:c.2474A>G, XM_005258277.1:c.2525A>G, XM_005258278.1:c.2525A>G, XM_005258279.1:c.2474A>G, XM_005258280.1:c.2060A>GLikely pathogenic06/30/2018 
235NPC1Ex16NM_000271.4:c.2476T>Cp.Ser826Pro | p.S826PNM_000271.3:c.2476T>C, NM_000271.4:c.2476T>C, XM_005258277.1:c.2527T>C, XM_005258278.1:c.2527T>C, XM_005258279.1:c.2476T>C, XM_005258280.1:c.2062T>CVOUS03/09/2021
236NPC1Ex16NM_000271.4:c.2501T>Cp.Met834Thr | p.M834TNM_000271.3:c.2501T>C, NM_000271.4:c.2501T>C, XM_005258277.1:c.2552T>C, XM_005258278.1:c.2552T>C, XM_005258279.1:c.2501T>C, XM_005258280.1:c.2087T>CLikely benign07/01/2019 
237NPC1Ex16NM_000271.4:c.2510T>Cp.Ile837Thr | p.I837TNM_000271.3:c.2510T>C, NM_000271.4:c.2510T>C, XM_005258277.1:c.2561T>C, XM_005258278.1:c.2561T>C, XM_005258279.1:c.2510T>C, XM_005258280.1:c.2096T>CVOUS11/28/2016
238NPC1Ex16NM_000271.4:c.2514+3A>CNM_000271.3:c.2514+3A>C, NM_000271.4:c.2514+3A>C, XM_005258277.1:c.2565+3A>C, XM_005258278.1:c.2565+3A>C, XM_005258279.1:c.2514+3A>C, XM_005258280.1:c.2100+3A>CVOUS01/09/2018
239NPC1Ex16NM_000271.4:c.2514+6C>TBenign04/29/2013 
240NPC1Ex16NM_000271.4:c.2514+7G>ANM_000271.3:c.2514+7G>A, NM_000271.4:c.2514+7G>A, XM_005258277.1:c.2565+7G>A, XM_005258278.1:c.2565+7G>A, XM_005258279.1:c.2514+7G>A, XM_005258280.1:c.2100+7G>AVOUS06/12/2018
241NPC1Ex17NM_000271.4:c.2524T>Cp.Phe842Leu | p.F842LNM_000271.3:c.2524T>C, NM_000271.4:c.2524T>C, XM_005258277.1:c.2575T>C, XM_005258278.1:c.2575T>C, XM_005258279.1:c.2524T>C, XM_005258280.1:c.2110T>CVOUS12/29/2020
242NPC1Ex17NM_000271.4:c.2547C>Tp.Ser849= | p.S849=NM_000271.3:c.2547C>T, NM_000271.4:c.2547C>T, XM_005258277.1:c.2598C>T, XM_005258278.1:c.2598C>T, XM_005258279.1:c.2547C>T, XM_005258280.1:c.2133C>TVOUS10/08/2020
243NPC1Ex17NM_000271.4:c.2572A>Gp.Ile858Val | p.I858VNM_000271.3:c.2572A>G, NM_000271.4:c.2572A>GBenign07/24/2015 
244NPC1Ex17NM_000271.4:c.2598G>Tp.Met866Ile | p.M866INM_000271.3:c.2598G>T, NM_000271.4:c.2598G>T, XM_005258277.1:c.2649G>T, XM_005258278.1:c.2649G>T, XM_005258279.1:c.2598G>T, XM_005258280.1:c.2184G>TVOUS11/23/2016
245NPC1Ex17NM_000271.4:c.2604+1G>ANM_000271.3:c.2604+1G>A, NM_000271.4:c.2604+1G>A, XM_005258277.1:c.2655+1G>A, XM_005258278.1:c.2655+1G>A, XM_005258279.1:c.2604+1G>A, XM_005258280.1:c.2190+1G>APathogenic04/10/2017 
246NPC1Ex18NM_000271.4:c.2621A>Tp.Asp874Val | p.D874VNM_000271.3:c.2621A>T, NM_000271.4:c.2621A>T, XM_005258277.1:c.2672A>T, XM_005258278.1:c.2672A>T, XM_005258279.1:c.2621A>T, XM_005258280.1:c.2207A>TPathogenic02/11/2019 
247NPC1Ex18NM_000271.4:c.2655G>Ap.Ala885= | p.A885=NM_000271.3:c.2655G>A, NM_000271.4:c.2655G>A, XM_005258277.1:c.2706G>A, XM_005258278.1:c.2706G>A, XM_005258279.1:c.2655G>A, XM_005258280.1:c.2241G>AVOUS08/17/2018
248NPC1Ex18NM_000271.4:c.2677C>Tp.Leu893= | p.L893=NM_000271.3:c.2677C>T, NM_000271.4:c.2677C>T, XM_005258277.1:c.2728C>T, XM_005258278.1:c.2728C>T, XM_005258279.1:c.2677C>T, XM_005258280.1:c.2263C>TVOUS08/02/2016
249NPC1Ex18NM_000271.4:c.2701T>Cp.Ser901Pro | p.S901PNM_000271.3:c.2701T>C, NM_000271.4:c.2701T>C, XM_005258277.1:c.2752T>C, XM_005258278.1:c.2752T>C, XM_005258279.1:c.2701T>C, XM_005258280.1:c.2287T>CVOUS10/17/2019
250NPC1Ex18NM_000271.4:c.2709G>Ap.Lys903= | p.K903=NM_000271.3:c.2709G>A, NM_000271.4:c.2709G>A, XM_005258277.1:c.2760G>A, XM_005258278.1:c.2760G>A, XM_005258279.1:c.2709G>A, XM_005258280.1:c.2295G>AVOUS08/15/2017
251NPC1Ex18NM_000271.4:c.2712G>Tp.Gly904= | p.G904=NM_000271.3:c.2712G>T, NM_000271.4:c.2712G>T, XM_005258277.1:c.2763G>T, XM_005258278.1:c.2763G>T, XM_005258279.1:c.2712G>T, XM_005258280.1:c.2298G>TVOUS08/27/2015
252NPC1Ex18NM_000271.4:c.2728G>Ap.Gly910Ser | p.G910SNM_000271.3:c.2728G>A, NM_000271.4:c.2728G>A, XM_005258277.1:c.2779G>A, XM_005258278.1:c.2779G>A, XM_005258279.1:c.2728G>A, XM_005258280.1:c.2314G>APathogenic01/23/2020 
253NPC1Ex18NM_000271.4:c.2730C>Tp.Gly910= | p.G910=NM_000271.3:c.2730C>T, NM_000271.4:c.2730C>T, XM_005258277.1:c.2781C>T, XM_005258278.1:c.2781C>T, XM_005258279.1:c.2730C>T, XM_005258280.1:c.2316C>TVOUS03/12/2021
254NPC1Ex18NM_000271.4:c.2731G>Ap.Gly911Ser | p.G911SNM_000271.3:c.2731G>A, NM_000271.4:c.2731G>A, XM_005258277.1:c.2782G>A, XM_005258278.1:c.2782G>A, XM_005258279.1:c.2731G>A, XM_005258280.1:c.2317G>ABenign07/23/2015 
255NPC1Ex18NM_000271.4:c.2732G>Ap.Gly911Asp | p.G911DNM_000271.3:c.2732G>A, NM_000271.4:c.2732G>A, XM_005258277.1:c.2783G>A, XM_005258278.1:c.2783G>A, XM_005258279.1:c.2732G>A, XM_005258280.1:c.2318G>AVOUS06/30/2020
256NPC1Ex18NM_000271.4:c.2747A>Gp.Asn916Ser | p.N916SNM_000271.3:c.2747A>G, NM_000271.4:c.2747A>G, XM_005258277.1:c.2798A>G, XM_005258278.1:c.2798A>G, XM_005258279.1:c.2747A>G, XM_005258280.1:c.2333A>GVOUS01/15/2020
257NPC1Ex18NM_000271.4:c.2793C>Tp.Asn931= | p.N931=NM_000271.3:c.2793C>T, NM_000271.4:c.2793C>T, XM_005258277.1:c.2844C>T, XM_005258278.1:c.2844C>T, XM_005258279.1:c.2793C>T, XM_005258280.1:c.2379C>TBenign02/11/2019 
258NPC1Ex18NM_000271.4:c.2795+19T>CNM_000271.3:c.2795+19T>C, NM_000271.4:c.2795+19T>C, XM_005258277.1:c.2846+19T>C, XM_005258278.1:c.2846+19T>C, XM_005258279.1:c.2795+19T>C, XM_005258280.1:c.2381+19T>CBenign08/14/2014 
259NPC1Ex19NM_000271.4:c.2801G>Tp.Arg934Leu | p.R934LNM_000271.3:c.2801G>T, NM_000271.4:c.2801G>T, XM_005258277.1:c.2852G>T, XM_005258278.1:c.2852G>T, XM_005258279.1:c.2801G>T, XM_005258280.1:c.2387G>TVOUS07/05/2016
260NPC1Ex19NM_000271.4:c.2808C>Tp.Gly936= | p.G936=NM_000271.3:c.2808C>T, NM_000271.4:c.2808C>T, XM_005258277.1:c.2859C>T, XM_005258278.1:c.2859C>T, XM_005258279.1:c.2808C>T, XM_005258280.1:c.2394C>TVOUS02/26/2018
261NPC1Ex19NM_000271.4:c.2819C>Tp.Ser940Leu | p.S940LNM_000271.3:c.2819C>T, NM_000271.4:c.2819C>T, XM_005258277.1:c.2870C>T, XM_005258278.1:c.2870C>T, XM_005258279.1:c.2819C>T, XM_005258280.1:c.2405C>TPathogenic08/18/2017 
262NPC1Ex19NM_000271.4:c.2820G>Ap.Ser940= | p.S940=NM_000271.3:c.2820G>A, NM_000271.4:c.2820G>A, XM_005258277.1:c.2871G>A, XM_005258278.1:c.2871G>A, XM_005258279.1:c.2820G>A, XM_005258280.1:c.2406G>AVOUS02/12/2021
263NPC1Ex19NM_000271.4:c.2830G>Ap.Asp944Asn | p.D944NNM_000271.3:c.2830G>A, NM_000271.4:c.2830G>A, XM_005258277.1:c.2881G>A, XM_005258278.1:c.2881G>A, XM_005258279.1:c.2830G>A, XM_005258280.1:c.2416G>APathogenic11/13/2017 
264NPC1Ex19NM_000271.4:c.2841C>Tp.Phe947= | p.F947=NM_000271.3:c.2841C>T, NM_000271.4:c.2841C>T, XM_005258277.1:c.2892C>T, XM_005258278.1:c.2892C>T, XM_005258279.1:c.2841C>T, XM_005258280.1:c.2427C>TVOUS11/29/2018
265NPC1Ex19NM_000271.4:c.2842G>Ap.Asp948Asn | p.D948NNM_000271.3:c.2842G>A, NM_000271.4:c.2842G>A, XM_005258277.1:c.2893G>A, XM_005258278.1:c.2893G>A, XM_005258279.1:c.2842G>A, XM_005258280.1:c.2428G>APathogenic** 
266NPC1Ex19NM_000271.4:c.2851A>Cp.Lys951Gln | p.K951QNM_000271.3:c.2851A>C, NM_000271.4:c.2851A>C, XM_005258277.1:c.2902A>C, XM_005258278.1:c.2902A>C, XM_005258279.1:c.2851A>C, XM_005258280.1:c.2437A>CVOUS11/08/2017
267NPC1Ex19NM_000271.4:c.2861C>Tp.Ser954Leu | p.S954LNM_000271.3:c.2861C>T, NM_000271.4:c.2861C>T, XM_005258277.1:c.2912C>T, XM_005258278.1:c.2912C>T, XM_005258279.1:c.2861C>T, XM_005258280.1:c.2447C>TPathogenic02/01/2021 
268NPC1Ex19NM_000271.4:c.2862G>Ap.Ser954= | p.S954=VOUS09/12/2012
269NPC1Ex19NM_000271.4:c.2865T>Cp.Ser955= | p.S955=NM_000271.3:c.2865T>C, NM_000271.4:c.2865T>C, XM_005258277.1:c.2916T>C, XM_005258278.1:c.2916T>C, XM_005258279.1:c.2865T>C, XM_005258280.1:c.2451T>CVOUS10/23/2020
270NPC1Ex19NM_000271.4:c.2872C>Tp.Arg958* | p.R958XNM_000271.3:c.2872C>T, NM_000271.4:c.2872C>T, XM_005258277.1:c.2923C>T, XM_005258278.1:c.2923C>T, XM_005258279.1:c.2872C>T, XM_005258280.1:c.2458C>TPathogenic06/17/2019 
271NPC1Ex19NM_000271.4:c.2882A>Gp.Asn961Ser | p.N961SNM_000271.3:c.2882A>G, NM_000271.4:c.2882A>G, XM_005258277.1:c.2933A>G, XM_005258278.1:c.2933A>G, XM_005258279.1:c.2882A>G, XM_005258280.1:c.2468A>GBenign12/09/2015 
272NPC1Ex19NM_000271.4:c.2911+4C>TNM_000271.3:c.2911+4C>T, NM_000271.4:c.2911+4C>T, XM_005258277.1:c.2962+4C>T, XM_005258278.1:c.2962+4C>T, XM_005258279.1:c.2911+4C>T, XM_005258280.1:c.2497+4C>TVOUS10/18/2017
273NPC1Ex19NM_000271.4:c.2911+10C>TNM_000271.3:c.2911+10C>T, NM_000271.4:c.2911+10C>T, XM_005258277.1:c.2962+10C>T, XM_005258278.1:c.2962+10C>T, XM_005258279.1:c.2911+10C>T, XM_005258280.1:c.2497+10C>TVOUS10/30/2017
274NPC1Ex19NM_000271.4:c.2911+28T>CNM_000271.3:c.2911+28T>C, NM_000271.4:c.2911+28T>C, XM_005258277.1:c.2962+28T>C, XM_005258278.1:c.2962+28T>C, XM_005258279.1:c.2911+28T>C, XM_005258280.1:c.2497+28T>CBenign** 
275NPC1Ex20NM_000271.4:c.2912-5G>AVOUS12/29/2020
276NPC1Ex20NM_000271.4:c.2928C>Tp.Cys976= | p.C976=NM_000271.3:c.2928C>T, NM_000271.4:c.2928C>T, XM_005258277.1:c.2979C>T, XM_005258278.1:c.2979C>T, XM_005258279.1:c.2928C>T, XM_005258280.1:c.2514C>TVOUS04/23/2019
277NPC1Ex20NM_000271.4:c.2932C>Tp.Arg978Cys | p.R978CNM_000271.3:c.2932C>T, NM_000271.4:c.2932C>T, XM_005258277.1:c.2983C>T, XM_005258278.1:c.2983C>T, XM_005258279.1:c.2932C>T, XM_005258280.1:c.2518C>TPathogenic11/21/2017 
278NPC1Ex20NM_000271.4:c.2942C>Tp.Pro981Leu | p.P981LNM_000271.3:c.2942C>T, NM_000271.4:c.2942C>T, XM_005258277.1:c.2993C>T, XM_005258278.1:c.2993C>T, XM_005258279.1:c.2942C>T, XM_005258280.1:c.2528C>TVOUS05/18/2018
279NPC1Ex20NM_000271.4:c.2951C>Tp.Pro984Leu | p.P984LNM_000271.3:c.2951C>T, NM_000271.4:c.2951C>T, XM_005258277.1:c.3002C>T, XM_005258278.1:c.3002C>T, XM_005258279.1:c.2951C>T, XM_005258280.1:c.2537C>TVOUS09/24/2018
280NPC1Ex20NM_000271.4:c.2972_2973delAGPathogenic** 
281NPC1Ex20NM_000271.4:c.2973G>Cp.Gln991His | p.Q991HNM_000271.3:c.2973G>C, NM_000271.4:c.2973G>C, XM_005258277.1:c.3024G>C, XM_005258278.1:c.3024G>C, XM_005258279.1:c.2973G>C, XM_005258280.1:c.2559G>CVOUS12/14/2020
282NPC1Ex20NM_000271.4:c.2973_2974delGGinsATp.Gly992Trp | p.G992WNM_000271.3:c.2973_2974delinsAT, NM_000271.4:c.2973_2974delinsAT, XM_005258277.1:c.3024_3025delinsAT, XM_005258278.1:c.3024_3025delinsAT, XM_005258279.1:c.2973_2974delinsAT, XM_005258280.1:c.2559_2560delinsATPathogenic08/10/2017 
283NPC1Ex20NM_000271.4:c.2974G>Tp.Gly992Trp | p.G992WNM_000271.3:c.2974G>T, NM_000271.4:c.2974G>T, XM_005258277.1:c.3025G>T, XM_005258278.1:c.3025G>T, XM_005258279.1:c.2974G>T, XM_005258280.1:c.2560G>TPathogenic10/02/2020 
284NPC1Ex20NM_000271.4:c.2974G>Cp.Gly992Arg | p.G992RNM_000271.3:c.2974G>C, NM_000271.4:c.2974G>C, XM_005258277.1:c.3025G>C, XM_005258278.1:c.3025G>C, XM_005258279.1:c.2974G>C, XM_005258280.1:c.2560G>CPathogenic11/22/2019 
285NPC1Ex20NM_000271.4:c.3011C>Tp.Ser1004Leu | p.S1004LNM_000271.3:c.3011C>T, NM_000271.4:c.3011C>T, XM_005258277.1:c.3062C>T, XM_005258278.1:c.3062C>T, XM_005258279.1:c.3011C>T, XM_005258280.1:c.2597C>TVOUS05/13/2019
286NPC1Ex20NM_000271.4:c.3012G>Ap.Ser1004= | p.S1004=NM_000271.3:c.3012G>A, NM_000271.4:c.3012G>A, XM_005258277.1:c.3063G>A, XM_005258278.1:c.3063G>A, XM_005258279.1:c.3012G>A, XM_005258280.1:c.2598G>AVOUS10/08/2020
287NPC1Ex20NM_000271.4:c.3019C>Gp.Pro1007Ala | p.P1007ANM_000271.3:c.3019C>G, NM_000271.4:c.3019C>G, XM_005258277.1:c.3070C>G, XM_005258278.1:c.3070C>G, XM_005258279.1:c.3019C>G, XM_005258280.1:c.2605C>GPathogenic02/27/2020 
288NPC1Ex20NM_000271.4:c.3041+10G>ANM_000271.3:c.3041+10G>A, NM_000271.4:c.3041+10G>A, XM_005258277.1:c.3092+10G>A, XM_005258278.1:c.3092+10G>A, XM_005258279.1:c.3041+10G>A, XM_005258280.1:c.2627+10G>AVOUS12/05/2016
289NPC1Ex21NM_000271.4:c.3042-9T>CVOUS12/03/2019
290NPC1Ex21NM_000271.4:c.3047A>Gp.His1016Arg | p.H1016RNM_000271.3:c.3047A>G, NM_000271.4:c.3047A>G, XM_005258253.1:c.*3940T>C, XM_005258277.1:c.3098A>G, XM_005258278.1:c.3098A>G, XM_005258279.1:c.3047A>G, XM_005258280.1:c.2633A>GVOUS06/09/2020
291NPC1Ex21NM_000271.4:c.3059G>Cp.Ser1020Thr | p.S1020TNM_000271.3:c.3059G>C, NM_000271.4:c.3059G>C, XM_005258253.1:c.*3928C>G, XM_005258277.1:c.3110G>C, XM_005258278.1:c.3110G>C, XM_005258279.1:c.3059G>C, XM_005258280.1:c.2645G>CVOUS03/30/2020
292NPC1Ex21NM_000271.4:c.3104C>Tp.Ala1035Val | p.A1035VNM_000271.3:c.3104C>T, NM_000271.4:c.3104C>T, XM_005258253.1:c.*3883G>A, XM_005258277.1:c.3155C>T, XM_005258278.1:c.3155C>T, XM_005258279.1:c.3104C>T, XM_005258280.1:c.2690C>TPathogenic07/02/2012 
293NPC1Ex21NM_000271.4:c.3107C>Tp.Thr1036Met | p.T1036MNM_000271.3:c.3107C>T, NM_000271.4:c.3107C>T, XM_005258253.1:c.*3880G>A, XM_005258277.1:c.3158C>T, XM_005258278.1:c.3158C>T, XM_005258279.1:c.3107C>T, XM_005258280.1:c.2693C>TPathogenic05/24/2019 
294NPC1Ex21NM_000271.4:c.3108G>Ap.Thr1036= | p.T1036=NM_000271.3:c.3108G>A, NM_000271.4:c.3108G>A, XM_005258253.1:c.*3879C>T, XM_005258277.1:c.3159G>A, XM_005258278.1:c.3159G>A, XM_005258279.1:c.3108G>A, XM_005258280.1:c.2694G>AVOUS12/07/2020
295NPC1Ex21NM_000271.4:c.3130G>Ap.Val1044Met | p.V1044MNM_000271.3:c.3130G>A, NM_000271.4:c.3130G>A, NM_001276342.1:c.*5104C>T, NM_013326.4:c.*5084C>T, NR_075075.1:n.*4981C>T, NR_075076.1:n.*4981C>T, XM_005258253.1:c.*3857C>T, XM_005258277.1:c.3181G>A, XM_005258278.1:c.3181G>A, XM_005258279.1:c.3130G>A, XM_005258280.1:c.2716G>AVOUS05/31/2018
296NPC1Ex21NM_000271.4:c.3155T>Cp.Ile1052Thr | p.I1052TNM_000271.3:c.3155T>C, NM_000271.4:c.3155T>C, NM_001276342.1:c.*5079A>G, NM_013326.3:c.*5059A>G, NM_013326.4:c.*5059A>G, NR_075075.1:n.*4956A>G, NR_075076.1:n.*4956A>G, XM_005258253.1:c.*3832A>G, XM_005258254.1:c.*5059A>G, XM_005258255.1:c.*5059A>G, XM_005258256.1:c.*5079A>G, XM_005258277.1:c.3206T>C, XM_005258278.1:c.3206T>C, XM_005258279.1:c.3155T>C, XM_005258280.1:c.2741T>CVOUS07/10/2018
297NPC1Ex21NM_000271.4:c.3159C>Tp.Asp1053= | p.D1053=NM_000271.3:c.3159C>T, NM_000271.4:c.3159C>T, NM_001276342.1:c.*5075G>A, NM_013326.3:c.*5055G>A, NM_013326.4:c.*5055G>A, NR_075075.1:n.*4952G>A, NR_075076.1:n.*4952G>A, XM_005258253.1:c.*3828G>A, XM_005258254.1:c.*5055G>A, XM_005258255.1:c.*5055G>A, XM_005258256.1:c.*5075G>A, XM_005258277.1:c.3210C>T, XM_005258278.1:c.3210C>T, XM_005258279.1:c.3159C>T, XM_005258280.1:c.2745C>TVOUS04/16/2020
298NPC1Ex21NM_000271.4:c.3174C>Tp.Ala1058= | p.A1058=NM_000271.3:c.3174C>T, NM_000271.4:c.3174C>T, NM_001276342.1:c.*5060G>A, NM_013326.3:c.*5040G>A, NM_013326.4:c.*5040G>A, NR_075075.1:n.*4937G>A, NR_075076.1:n.*4937G>A, XM_005258253.1:c.*3813G>A, XM_005258254.1:c.*5040G>A, XM_005258255.1:c.*5040G>A, XM_005258256.1:c.*5060G>A, XM_005258277.1:c.3225C>T, XM_005258278.1:c.3225C>T, XM_005258279.1:c.3174C>T, XM_005258280.1:c.2760C>TVOUS10/17/2019
299NPC1Ex21NM_000271.4:c.3182T>Cp.Ile1061Thr | p.I1061TNM_000271.3:c.3182T>C, NM_000271.4:c.3182T>C, NM_001276342.1:c.*5052A>G, NM_013326.3:c.*5032A>G, NM_013326.4:c.*5032A>G, NR_075075.1:n.*4929A>G, NR_075076.1:n.*4929A>G, XM_005258253.1:c.*3805A>G, XM_005258254.1:c.*5032A>G, XM_005258255.1:c.*5032A>G, XM_005258256.1:c.*5052A>G, XM_005258277.1:c.3233T>C, XM_005258278.1:c.3233T>C, XM_005258279.1:c.3182T>C, XM_005258280.1:c.2768T>CPathogenic12/09/2020 
300NPC1Ex21NM_000271.4:c.3183A>Gp.Ile1061Met | p.I1061MVOUS**
301NPC1Ex21NM_000271.4:c.3192T>Cp.Asn1064= | p.N1064=NM_000271.3:c.3192T>C, NM_000271.4:c.3192T>C, NM_001276342.1:c.*5042A>G, NM_013326.3:c.*5022A>G, NM_013326.4:c.*5022A>G, NR_075075.1:n.*4919A>G, NR_075076.1:n.*4919A>G, XM_005258253.1:c.*3795A>G, XM_005258254.1:c.*5022A>G, XM_005258255.1:c.*5022A>G, XM_005258256.1:c.*5042A>G, XM_005258277.1:c.3243T>C, XM_005258278.1:c.3243T>C, XM_005258279.1:c.3192T>C, XM_005258280.1:c.2778T>CVOUS10/11/2017
302NPC1Ex21NM_000271.4:c.3198C>Tp.Thr1066= | p.T1066=NM_000271.3:c.3198C>T, NM_000271.4:c.3198C>T, NM_001276342.1:c.*5036G>A, NM_013326.3:c.*5016G>A, NM_013326.4:c.*5016G>A, NR_075075.1:n.*4913G>A, NR_075076.1:n.*4913G>A, XM_005258253.1:c.*3789G>A, XM_005258254.1:c.*5016G>A, XM_005258255.1:c.*5016G>A, XM_005258256.1:c.*5036G>A, XM_005258277.1:c.3249C>T, XM_005258278.1:c.3249C>T, XM_005258279.1:c.3198C>T, XM_005258280.1:c.2784C>TVOUS08/20/2020
303NPC1Ex21NM_000271.4:c.3199G>Ap.Glu1067Lys | p.E1067KNM_000271.3:c.3199G>A, NM_000271.4:c.3199G>A, NM_001276342.1:c.*5035C>T, NM_013326.3:c.*5015C>T, NM_013326.4:c.*5015C>T, NR_075075.1:n.*4912C>T, NR_075076.1:n.*4912C>T, XM_005258253.1:c.*3788C>T, XM_005258254.1:c.*5015C>T, XM_005258255.1:c.*5015C>T, XM_005258256.1:c.*5035C>T, XM_005258277.1:c.3250G>A, XM_005258278.1:c.3250G>A, XM_005258279.1:c.3199G>A, XM_005258280.1:c.2785G>AVOUS10/22/2020
304NPC1Ex21NM_000271.4:c.3217G>Ap.Gly1073Ser | p.G1073SNM_000271.3:c.3217G>A, NM_000271.4:c.3217G>A, NM_001276342.1:c.*5017C>T, NM_013326.3:c.*4997C>T, NM_013326.4:c.*4997C>T, NR_075075.1:n.*4894C>T, NR_075076.1:n.*4894C>T, XM_005258253.1:c.*3770C>T, XM_005258254.1:c.*4997C>T, XM_005258255.1:c.*4997C>T, XM_005258256.1:c.*5017C>T, XM_005258277.1:c.3268G>A, XM_005258278.1:c.3268G>A, XM_005258279.1:c.3217G>A, XM_005258280.1:c.2803G>ALikely benign03/04/2019 
305NPC1Ex21NM_000271.4:c.3229C>Tp.Arg1077* | p.R1077XNM_000271.3:c.3229C>T, NM_000271.4:c.3229C>T, NM_001276342.1:c.*5005G>A, NM_013326.3:c.*4985G>A, NM_013326.4:c.*4985G>A, NR_075075.1:n.*4882G>A, NR_075076.1:n.*4882G>A, XM_005258253.1:c.*3758G>A, XM_005258254.1:c.*4985G>A, XM_005258255.1:c.*4985G>A, XM_005258256.1:c.*5005G>A, XM_005258277.1:c.3280C>T, XM_005258278.1:c.3280C>T, XM_005258279.1:c.3229C>T, XM_005258280.1:c.2815C>TPathogenic07/05/2016 
306NPC1Ex21NM_000271.4:c.3245+10G>ANM_000271.3:c.3245+10G>A, NM_000271.4:c.3245+10G>A, NM_001276342.1:c.*4979C>T, NM_013326.3:c.*4959C>T, NM_013326.4:c.*4959C>T, NR_075075.1:n.*4856C>T, NR_075076.1:n.*4856C>T, XM_005258253.1:c.*3732C>T, XM_005258254.1:c.*4959C>T, XM_005258255.1:c.*4959C>T, XM_005258256.1:c.*4979C>T, XM_005258277.1:c.3296+10G>A, XM_005258278.1:c.3296+10G>A, XM_005258279.1:c.3245+10G>A, XM_005258280.1:c.2831+10G>AVOUS04/19/2019
307NPC1Ex22NM_000271.4:c.3246-46C>TNM_000271.3:c.3246-46C>T, NM_000271.4:c.3246-46C>T, NM_001276342.1:c.*4062G>A, NM_013326.3:c.*4042G>A, NM_013326.4:c.*4042G>A, NR_075075.1:n.*3939G>A, NR_075076.1:n.*3939G>A, XM_005258253.1:c.*2815G>A, XM_005258254.1:c.*4042G>A, XM_005258255.1:c.*4042G>A, XM_005258256.1:c.*4062G>A, XM_005258277.1:c.3297-46C>T, XM_005258278.1:c.3297-46C>T, XM_005258279.1:c.3246-46C>T, XM_005258280.1:c.2832-46C>TBenign02/01/2017 
308NPC1Ex22NM_000271.4:c.3246-20G>ABenign04/05/2013 
309NPC1Ex22NM_000271.4:c.3246-8C>TNM_000271.3:c.3246-8C>T, NM_000271.4:c.3246-8C>T, NM_001276342.1:c.*4024G>A, NM_013326.3:c.*4004G>A, NM_013326.4:c.*4004G>A, NR_075075.1:n.*3901G>A, NR_075076.1:n.*3901G>A, XM_005258253.1:c.*2777G>A, XM_005258254.1:c.*4004G>A, XM_005258255.1:c.*4004G>A, XM_005258256.1:c.*4024G>A, XM_005258277.1:c.3297-8C>T, XM_005258278.1:c.3297-8C>T, XM_005258279.1:c.3246-8C>T, XM_005258280.1:c.2832-8C>TVOUS10/09/2018
310NPC1Ex22NM_000271.4:c.3246-2A>GNM_000271.3:c.3246-2A>G, NM_000271.4:c.3246-2A>G, NM_001276342.1:c.*4018T>C, NM_013326.3:c.*3998T>C, NM_013326.4:c.*3998T>C, NR_075075.1:n.*3895T>C, NR_075076.1:n.*3895T>C, XM_005258253.1:c.*2771T>C, XM_005258254.1:c.*3998T>C, XM_005258255.1:c.*3998T>C, XM_005258256.1:c.*4018T>C, XM_005258277.1:c.3297-2A>G, XM_005258278.1:c.3297-2A>G, XM_005258279.1:c.3246-2A>G, XM_005258280.1:c.2832-2A>GPathogenic07/24/2015 
311NPC1Ex22NM_000271.4:c.3265G>Tp.Glu1089* | p.E1089XNM_000271.3:c.3265G>T, NM_000271.4:c.3265G>T, NM_001276342.1:c.*3997C>A, NM_013326.3:c.*3977C>A, NM_013326.4:c.*3977C>A, NR_075075.1:n.*3874C>A, NR_075076.1:n.*3874C>A, XM_005258253.1:c.*2750C>A, XM_005258254.1:c.*3977C>A, XM_005258255.1:c.*3977C>A, XM_005258256.1:c.*3997C>A, XM_005258277.1:c.3316G>T, XM_005258278.1:c.3316G>T, XM_005258279.1:c.3265G>T, XM_005258280.1:c.2851G>TPathogenic12/11/2020 
312NPC1Ex22NM_000271.4:c.3284T>Cp.Ile1095Thr | p.I1095TNM_000271.3:c.3284T>C, NM_000271.4:c.3284T>C, NM_001276342.1:c.*3978A>G, NM_013326.3:c.*3958A>G, NM_013326.4:c.*3958A>G, NR_075075.1:n.*3855A>G, NR_075076.1:n.*3855A>G, XM_005258253.1:c.*2731A>G, XM_005258254.1:c.*3958A>G, XM_005258255.1:c.*3958A>G, XM_005258256.1:c.*3978A>G, XM_005258277.1:c.3335T>C, XM_005258278.1:c.3335T>C, XM_005258279.1:c.3284T>C, XM_005258280.1:c.2870T>CVOUS10/27/2020
313NPC1Ex22NM_000271.4:c.3288C>Tp.Asp1096= | p.D1096=NM_000271.3:c.3288C>T, NM_000271.4:c.3288C>T, NM_001276342.1:c.*3974G>A, NM_013326.3:c.*3954G>A, NM_013326.4:c.*3954G>A, NR_075075.1:n.*3851G>A, NR_075076.1:n.*3851G>A, XM_005258253.1:c.*2727G>A, XM_005258254.1:c.*3954G>A, XM_005258255.1:c.*3954G>A, XM_005258256.1:c.*3974G>A, XM_005258277.1:c.3339C>T, XM_005258278.1:c.3339C>T, XM_005258279.1:c.3288C>T, XM_005258280.1:c.2874C>TVOUS07/07/2020
314NPC1Ex22NM_000271.4:c.3289G>Ap.Asp1097Asn | p.D1097NNM_000271.3:c.3289G>A, NM_000271.4:c.3289G>A, NM_001276342.1:c.*3973C>T, NM_013326.3:c.*3953C>T, NM_013326.4:c.*3953C>T, NR_075075.1:n.*3850C>T, NR_075076.1:n.*3850C>T, XM_005258253.1:c.*2726C>T, XM_005258254.1:c.*3953C>T, XM_005258255.1:c.*3953C>T, XM_005258256.1:c.*3973C>T, XM_005258277.1:c.3340G>A, XM_005258278.1:c.3340G>A, XM_005258279.1:c.3289G>A, XM_005258280.1:c.2875G>ALikely pathogenic03/04/2021 
315NPC1Ex22NM_000271.4:c.3300C>Tp.Phe1100= | p.F1100=NM_000271.3:c.3300C>T, NM_000271.4:c.3300C>T, NM_001276342.1:c.*3962G>A, NM_013326.3:c.*3942G>A, NM_013326.4:c.*3942G>A, NR_075075.1:n.*3839G>A, NR_075076.1:n.*3839G>A, XM_005258253.1:c.*2715G>A, XM_005258254.1:c.*3942G>A, XM_005258255.1:c.*3942G>A, XM_005258256.1:c.*3962G>A, XM_005258277.1:c.3351C>T, XM_005258278.1:c.3351C>T, XM_005258279.1:c.3300C>T, XM_005258280.1:c.2886C>TVOUS06/21/2018
316NPC1Ex22NM_000271.4:c.3312G>Ap.Val1104= | p.V1104=NM_000271.3:c.3312G>A, NM_000271.4:c.3312G>A, NM_001276342.1:c.*3950C>T, NM_013326.3:c.*3930C>T, NM_013326.4:c.*3930C>T, NR_075075.1:n.*3827C>T, NR_075076.1:n.*3827C>T, XM_005258253.1:c.*2703C>T, XM_005258254.1:c.*3930C>T, XM_005258255.1:c.*3930C>T, XM_005258256.1:c.*3950C>T, XM_005258277.1:c.3363G>A, XM_005258278.1:c.3363G>A, XM_005258279.1:c.3312G>A, XM_005258280.1:c.2898G>AVOUS09/28/2019
317NPC1Ex22NM_000271.4:c.3320dupGp.Ala1108Argfs*13 | p.A1108RfsX13NM_000271.3:c.3320dupG, NM_000271.4:c.3320dupG, NM_001276342.1:c.*3942dupC, NM_013326.3:c.*3922dupC, NM_013326.4:c.*3922dupC, NR_075075.1:n.*3819dupC, NR_075076.1:n.*3819dupC, XM_005258253.1:c.*2695dupC, XM_005258254.1:c.*3922dupC, XM_005258255.1:c.*3922dupC, XM_005258256.1:c.*3942dupC, XM_005258277.1:c.3371dupG, XM_005258278.1:c.3371dupG, XM_005258279.1:c.3320dupG, XM_005258280.1:c.2906dupGPathogenic10/01/2019 
318NPC1Ex22NM_000271.4:c.3331C>Tp.Leu1111= | p.L1111=Benign02/22/2013 
319NPC1Ex22NM_000271.4:c.3343G>Tp.Val1115Phe | p.V1115FBenign02/22/2013 
320NPC1Ex22NM_000271.4:c.3364T>Cp.Trp1122Arg | p.W1122RNM_000271.3:c.3364T>C, NM_000271.4:c.3364T>C, NM_001276342.1:c.*3898A>G, NM_013326.3:c.*3878A>G, NM_013326.4:c.*3878A>G, NR_075075.1:n.*3775A>G, NR_075076.1:n.*3775A>G, XM_005258253.1:c.*2651A>G, XM_005258254.1:c.*3878A>G, XM_005258255.1:c.*3878A>G, XM_005258256.1:c.*3898A>G, XM_005258277.1:c.3415T>C, XM_005258278.1:c.3415T>C, XM_005258279.1:c.3364T>C, XM_005258280.1:c.2950T>CVOUS11/11/2016
321NPC1Ex22NM_000271.4:c.3393C>Tp.Ile1131= | p.I1131=NM_000271.3:c.3393C>T, NM_000271.4:c.3393C>T, NM_001276342.1:c.*3869G>A, NM_013326.3:c.*3849G>A, NM_013326.4:c.*3849G>A, NR_075075.1:n.*3746G>A, NR_075076.1:n.*3746G>A, XM_005258253.1:c.*2622G>A, XM_005258254.1:c.*3849G>A, XM_005258255.1:c.*3849G>A, XM_005258256.1:c.*3869G>A, XM_005258277.1:c.3444C>T, XM_005258278.1:c.3444C>T, XM_005258279.1:c.3393C>T, XM_005258280.1:c.2979C>TVOUS11/05/2018
322NPC1Ex22NM_000271.4:c.3425T>Cp.Met1142Thr | p.M1142TPathogenic** 
323NPC1Ex22NM_000271.4:c.3432C>Gp.Leu1144= | p.L1144=NM_000271.3:c.3432C>G, NM_000271.4:c.3432C>G, NM_001276342.1:c.*3830G>C, NM_013326.3:c.*3810G>C, NM_013326.4:c.*3810G>C, NR_075075.1:n.*3707G>C, NR_075076.1:n.*3707G>C, XM_005258253.1:c.*2583G>C, XM_005258254.1:c.*3810G>C, XM_005258255.1:c.*3810G>C, XM_005258256.1:c.*3830G>C, XM_005258277.1:c.3483C>G, XM_005258278.1:c.3483C>G, XM_005258279.1:c.3432C>G, XM_005258280.1:c.3018C>GVOUS11/14/2016
324NPC1Ex22NM_000271.4:c.3451G>Ap.Ala1151Thr | p.A1151TNM_000271.3:c.3451G>A, NM_000271.4:c.3451G>A, NM_001276342.1:c.*3811C>T, NM_013326.3:c.*3791C>T, NM_013326.4:c.*3791C>T, NR_075075.1:n.*3688C>T, NR_075076.1:n.*3688C>T, XM_005258253.1:c.*2564C>T, XM_005258254.1:c.*3791C>T, XM_005258255.1:c.*3791C>T, XM_005258256.1:c.*3811C>T, XM_005258277.1:c.3502G>A, XM_005258278.1:c.3502G>A, XM_005258279.1:c.3451G>A, XM_005258280.1:c.3037G>ALikely pathogenic08/30/2018 
325NPC1Ex22NM_000271.4:c.3477+2T>CNM_000271.3:c.3477+2T>C, NM_000271.4:c.3477+2T>C, NM_001276342.1:c.*3783A>G, NM_013326.3:c.*3763A>G, NM_013326.4:c.*3763A>G, NR_075075.1:n.*3660A>G, NR_075076.1:n.*3660A>G, XM_005258253.1:c.*2536A>G, XM_005258254.1:c.*3763A>G, XM_005258255.1:c.*3763A>G, XM_005258256.1:c.*3783A>G, XM_005258277.1:c.3528+2T>C, XM_005258278.1:c.3528+2T>C, XM_005258279.1:c.3477+2T>C, XM_005258280.1:c.3063+2T>CPathogenic04/16/2019 
326NPC1Ex22NM_000271.4:c.3477+3G>CVOUS09/16/2020
327NPC1Ex22NM_000271.4:c.3477+4A>GNM_000271.3:c.3477+4A>G, NM_000271.4:c.3477+4A>G, NM_001276342.1:c.*3781T>C, NM_013326.3:c.*3761T>C, NM_013326.4:c.*3761T>C, NR_075075.1:n.*3658T>C, NR_075076.1:n.*3658T>C, XM_005258253.1:c.*2534T>C, XM_005258254.1:c.*3761T>C, XM_005258255.1:c.*3761T>C, XM_005258256.1:c.*3781T>C, XM_005258277.1:c.3528+4A>G, XM_005258278.1:c.3528+4A>G, XM_005258279.1:c.3477+4A>G, XM_005258280.1:c.3063+4A>GLikely benign05/01/2019 
328NPC1Ex23NM_000271.4:c.3478-7A>CNM_000271.3:c.3478-7A>C, NM_000271.4:c.3478-7A>C, NM_001276342.1:c.*2882T>G, NM_013326.3:c.*2862T>G, NM_013326.4:c.*2862T>G, NR_075075.1:n.*2759T>G, NR_075076.1:n.*2759T>G, XM_005258253.1:c.*1635T>G, XM_005258254.1:c.*2862T>G, XM_005258255.1:c.*2862T>G, XM_005258256.1:c.*2882T>G, XM_005258277.1:c.3529-7A>C, XM_005258278.1:c.3529-7A>C, XM_005258279.1:c.3478-7A>C, XM_005258280.1:c.3064-7A>CVOUS03/06/2019
329NPC1Ex23NM_000271.4:c.3482G>Cp.Cys1161Ser | p.C1161SNM_000271.3:c.3482G>C, NM_000271.4:c.3482G>C, NM_001276342.1:c.*2871C>G, NM_013326.3:c.*2851C>G, NM_013326.4:c.*2851C>G, NR_075075.1:n.*2748C>G, NR_075076.1:n.*2748C>G, XM_005258253.1:c.*1624C>G, XM_005258254.1:c.*2851C>G, XM_005258255.1:c.*2851C>G, XM_005258256.1:c.*2871C>G, XM_005258277.1:c.3533G>C, XM_005258278.1:c.3533G>C, XM_005258279.1:c.3482G>C, XM_005258280.1:c.3068G>CVOUS11/28/2017
330NPC1Ex23NM_000271.4:c.3489C>Tp.Ile1163= | p.I1163=NM_000271.3:c.3489C>T, NM_000271.4:c.3489C>T, NM_001276342.1:c.*2864G>A, NM_013326.3:c.*2844G>A, NM_013326.4:c.*2844G>A, NR_075075.1:n.*2741G>A, NR_075076.1:n.*2741G>A, XM_005258253.1:c.*1617G>A, XM_005258254.1:c.*2844G>A, XM_005258255.1:c.*2844G>A, XM_005258256.1:c.*2864G>A, XM_005258277.1:c.3540C>T, XM_005258278.1:c.3540C>T, XM_005258279.1:c.3489C>T, XM_005258280.1:c.3075C>TVOUS08/03/2018
331NPC1Ex23NM_000271.4:c.3492C>Tp.Ser1164= | p.S1164=NM_000271.3:c.3492C>T, NM_000271.4:c.3492C>T, NM_001276342.1:c.*2861G>A, NM_013326.3:c.*2841G>A, NM_013326.4:c.*2841G>A, NR_075075.1:n.*2738G>A, NR_075076.1:n.*2738G>A, XM_005258253.1:c.*1614G>A, XM_005258254.1:c.*2841G>A, XM_005258255.1:c.*2841G>A, XM_005258256.1:c.*2861G>A, XM_005258277.1:c.3543C>T, XM_005258278.1:c.3543C>T, XM_005258279.1:c.3492C>T, XM_005258280.1:c.3078C>TVOUS03/20/2017
332NPC1Ex23NM_000271.4:c.3493G>Ap.Val1165Met | p.V1165MNM_000271.3:c.3493G>A, NM_000271.4:c.3493G>A, NM_001276342.1:c.*2860C>T, NM_013326.3:c.*2840C>T, NM_013326.4:c.*2840C>T, NR_075075.1:n.*2737C>T, NR_075076.1:n.*2737C>T, XM_005258253.1:c.*1613C>T, XM_005258254.1:c.*2840C>T, XM_005258255.1:c.*2840C>T, XM_005258256.1:c.*2860C>T, XM_005258277.1:c.3544G>A, XM_005258278.1:c.3544G>A, XM_005258279.1:c.3493G>A, XM_005258280.1:c.3079G>APathogenic05/24/2019 
333NPC1Ex23NM_000271.4:c.3496G>Ap.Glu1166Lys | p.E1166KNM_000271.3:c.3496G>A, NM_000271.4:c.3496G>A, NM_001276342.1:c.*2857C>T, NM_013326.3:c.*2837C>T, NM_013326.4:c.*2837C>T, NR_075075.1:n.*2734C>T, NR_075076.1:n.*2734C>T, XM_005258253.1:c.*1610C>T, XM_005258254.1:c.*2837C>T, XM_005258255.1:c.*2837C>T, XM_005258256.1:c.*2857C>T, XM_005258277.1:c.3547G>A, XM_005258278.1:c.3547G>A, XM_005258279.1:c.3496G>A, XM_005258280.1:c.3082G>AVOUS08/16/2017
334NPC1Ex23NM_000271.4:c.3503G>Ap.Cys1168Tyr | p.C1168YNM_000271.3:c.3503G>A, NM_000271.4:c.3503G>A, NM_001276342.1:c.*2850C>T, NM_013326.3:c.*2830C>T, NM_013326.4:c.*2830C>T, NR_075075.1:n.*2727C>T, NR_075076.1:n.*2727C>T, XM_005258253.1:c.*1603C>T, XM_005258254.1:c.*2830C>T, XM_005258255.1:c.*2830C>T, XM_005258256.1:c.*2850C>T, XM_005258277.1:c.3554G>A, XM_005258278.1:c.3554G>A, XM_005258279.1:c.3503G>A, XM_005258280.1:c.3089G>ALikely pathogenic10/01/2018 
335NPC1Ex23NM_000271.4:c.3527C>Tp.Thr1176Met | p.T1176MNM_000271.3:c.3527C>T, NM_000271.4:c.3527C>T, NM_001276342.1:c.*2826G>A, NM_013326.3:c.*2806G>A, NM_013326.4:c.*2806G>A, NR_075075.1:n.*2703G>A, NR_075076.1:n.*2703G>A, XM_005258253.1:c.*1579G>A, XM_005258254.1:c.*2806G>A, XM_005258255.1:c.*2806G>A, XM_005258256.1:c.*2826G>A, XM_005258277.1:c.3578C>T, XM_005258278.1:c.3578C>T, XM_005258279.1:c.3527C>T, XM_005258280.1:c.3113C>TVOUS06/04/2019
336NPC1Ex23NM_000271.4:c.3528G>Ap.Thr1176= | p.T1176=NM_000271.3:c.3528G>A, NM_000271.4:c.3528G>A, NM_001276342.1:c.*2825C>T, NM_013326.3:c.*2805C>T, NM_013326.4:c.*2805C>T, NR_075075.1:n.*2702C>T, NR_075076.1:n.*2702C>T, XM_005258253.1:c.*1578C>T, XM_005258254.1:c.*2805C>T, XM_005258255.1:c.*2805C>T, XM_005258256.1:c.*2825C>T, XM_005258277.1:c.3579G>A, XM_005258278.1:c.3579G>A, XM_005258279.1:c.3528G>A, XM_005258280.1:c.3114G>AVOUS05/06/2015
337NPC1Ex23NM_000271.4:c.3535A>Gp.Met1179Val | p.M1179VBenign04/29/2013 
338NPC1Ex23NM_000271.4:c.3548G>Ap.Arg1183His | p.R1183HNM_000271.3:c.3548G>A, NM_000271.4:c.3548G>A, NM_001276342.1:c.*2805C>T, NM_013326.3:c.*2785C>T, NM_013326.4:c.*2785C>T, NR_075075.1:n.*2682C>T, NR_075076.1:n.*2682C>T, XM_005258253.1:c.*1558C>T, XM_005258254.1:c.*2785C>T, XM_005258255.1:c.*2785C>T, XM_005258256.1:c.*2805C>T, XM_005258277.1:c.3599G>A, XM_005258278.1:c.3599G>A, XM_005258279.1:c.3548G>A, XM_005258280.1:c.3134G>AVOUS08/18/2020
339NPC1Ex23NM_000271.4:c.3550G>Ap.Val1184Met | p.V1184MNM_000271.3:c.3550G>A, NM_000271.4:c.3550G>A, NM_001276342.1:c.*2803C>T, NM_013326.3:c.*2783C>T, NM_013326.4:c.*2783C>T, NR_075075.1:n.*2680C>T, NR_075076.1:n.*2680C>T, XM_005258253.1:c.*1556C>T, XM_005258254.1:c.*2783C>T, XM_005258255.1:c.*2783C>T, XM_005258256.1:c.*2803C>T, XM_005258277.1:c.3601G>A, XM_005258278.1:c.3601G>A, XM_005258279.1:c.3550G>A, XM_005258280.1:c.3136G>AVOUS07/10/2017
340NPC1Ex23NM_000271.4:c.3556C>Tp.Arg1186Cys | p.R1186CNM_000271.3:c.3556C>T, NM_000271.4:c.3556C>T, NM_001276342.1:c.*2797G>A, NM_013326.3:c.*2777G>A, NM_013326.4:c.*2777G>A, NR_075075.1:n.*2674G>A, NR_075076.1:n.*2674G>A, XM_005258253.1:c.*1550G>A, XM_005258254.1:c.*2777G>A, XM_005258255.1:c.*2777G>A, XM_005258256.1:c.*2797G>A, XM_005258277.1:c.3607C>T, XM_005258278.1:c.3607C>T, XM_005258279.1:c.3556C>T, XM_005258280.1:c.3142C>TVOUS03/23/2016
341NPC1Ex23NM_000271.4:c.3557G>Ap.Arg1186His | p.R1186HNM_000271.3:c.3557G>A, NM_000271.4:c.3557G>A, NM_001276342.1:c.*2796C>T, NM_013326.3:c.*2776C>T, NM_013326.4:c.*2776C>T, NR_075075.1:n.*2673C>T, NR_075076.1:n.*2673C>T, XM_005258253.1:c.*1549C>T, XM_005258254.1:c.*2776C>T, XM_005258255.1:c.*2776C>T, XM_005258256.1:c.*2796C>T, XM_005258277.1:c.3608G>A, XM_005258278.1:c.3608G>A, XM_005258279.1:c.3557G>A, XM_005258280.1:c.3143G>ALikely pathogenic03/30/2016 
342NPC1Ex23NM_000271.4:c.3558C>Tp.Arg1186= | p.R1186=NM_000271.3:c.3558C>T, NM_000271.4:c.3558C>T, NM_001276342.1:c.*2795G>A, NM_013326.3:c.*2775G>A, NM_013326.4:c.*2775G>A, NR_075075.1:n.*2672G>A, NR_075076.1:n.*2672G>A, XM_005258253.1:c.*1548G>A, XM_005258254.1:c.*2775G>A, XM_005258255.1:c.*2775G>A, XM_005258256.1:c.*2795G>A, XM_005258277.1:c.3609C>T, XM_005258278.1:c.3609C>T, XM_005258279.1:c.3558C>T, XM_005258280.1:c.3144C>TVOUS12/22/2020
343NPC1Ex23NM_000271.4:c.3559G>Ap.Ala1187Thr | p.A1187TNM_000271.3:c.3559G>A, NM_000271.4:c.3559G>A, NM_001276342.1:c.*2794C>T, NM_013326.3:c.*2774C>T, NM_013326.4:c.*2774C>T, NR_075075.1:n.*2671C>T, NR_075076.1:n.*2671C>T, XM_005258253.1:c.*1547C>T, XM_005258254.1:c.*2774C>T, XM_005258255.1:c.*2774C>T, XM_005258256.1:c.*2794C>T, XM_005258277.1:c.3610G>A, XM_005258278.1:c.3610G>A, XM_005258279.1:c.3559G>A, XM_005258280.1:c.3145G>AVOUS03/11/2020
344NPC1Ex23NM_000271.4:c.3560C>Tp.Ala1187Val | p.A1187VNM_000271.3:c.3560C>T, NM_000271.4:c.3560C>T, NM_001276342.1:c.*2793G>A, NM_013326.3:c.*2773G>A, NM_013326.4:c.*2773G>A, NR_075075.1:n.*2670G>A, NR_075076.1:n.*2670G>A, XM_005258253.1:c.*1546G>A, XM_005258254.1:c.*2773G>A, XM_005258255.1:c.*2773G>A, XM_005258256.1:c.*2793G>A, XM_005258277.1:c.3611C>T, XM_005258278.1:c.3611C>T, XM_005258279.1:c.3560C>T, XM_005258280.1:c.3146C>TVOUS10/08/2020
345NPC1Ex23NM_000271.4:c.3561G>Ap.Ala1187= | p.A1187=NM_000271.3:c.3561G>A, NM_000271.4:c.3561G>A, NM_001276342.1:c.*2792C>T, NM_013326.3:c.*2772C>T, NM_013326.4:c.*2772C>T, NR_075075.1:n.*2669C>T, NR_075076.1:n.*2669C>T, XM_005258253.1:c.*1545C>T, XM_005258254.1:c.*2772C>T, XM_005258255.1:c.*2772C>T, XM_005258256.1:c.*2792C>T, XM_005258277.1:c.3612G>A, XM_005258278.1:c.3612G>A, XM_005258279.1:c.3561G>A, XM_005258280.1:c.3147G>AVOUS09/17/2020
346NPC1Ex23NM_000271.4:c.3561G>Tp.Ala1187= | p.A1187=NM_000271.3:c.3561G>T, NM_000271.4:c.3561G>T, NM_001276342.1:c.*2792C>A, NM_013326.3:c.*2772C>A, NM_013326.4:c.*2772C>A, NR_075075.1:n.*2669C>A, NR_075076.1:n.*2669C>A, XM_005258253.1:c.*1545C>A, XM_005258254.1:c.*2772C>A, XM_005258255.1:c.*2772C>A, XM_005258256.1:c.*2792C>A, XM_005258277.1:c.3612G>T, XM_005258278.1:c.3612G>T, XM_005258279.1:c.3561G>T, XM_005258280.1:c.3147G>TLikely benign09/27/2016 
347NPC1Ex23NM_000271.4:c.3570_3573dupACTTp.Ala1192Thrfs*67 | p.A1192TfsX67NM_000271.3:c.3570_3573dupACTT, NM_000271.3:c.3573_3574insACTT, NM_000271.4:c.3570_3573dupACTT, NM_000271.4:c.3573_3574insACTT, NM_001276342.1:c.*2779_*2780insAAGT, NM_001276342.1:c.*2780_*2783dupAAGT, NM_013326.3:c.*2759_*2760insAAGT, NM_013326.3:c.*2760_*2763dupAAGT, NM_013326.4:c.*2759_*2760insAAGT, NM_013326.4:c.*2760_*2763dupAAGT, NR_075075.1:n.*2656_*2657insAAGT, NR_075075.1:n.*2657_*2660dupAAGT, NR_075076.1:n.*2656_*2657insAAGT, NR_075076.1:n.*2657_*2660dupAAGT, XM_005258253.1:c.*1532_*1533insAAGT, XM_005258253.1:c.*1533_*1536dupAAGT, XM_005258254.1:c.*2759_*2760insAAGT, XM_005258254.1:c.*2760_*2763dupAAGT, XM_005258255.1:c.*2759_*2760insAAGT, XM_005258255.1:c.*2760_*2763dupAAGT, XM_005258256.1:c.*2779_*2780insAAGT, XM_005258256.1:c.*2780_*2783dupAAGT, XM_005258277.1:c.3621_3624dupACTT, XM_005258277.1:c.3624_3625insACTT, XM_005258278.1:c.3621_3624dupACTT, XM_005258278.1:c.3624_3625insACTT, XM_005258279.1:c.3570_3573dupACTT, XM_005258279.1:c.3573_3574insACTT, XM_005258280.1:c.3Pathogenic08/25/2016 
348NPC1Ex23NM_000271.4:c.3577C>Tp.His1193Tyr | p.H1193YNM_000271.3:c.3577C>T, NM_000271.4:c.3577C>T, NM_001276342.1:c.*2776G>A, NM_013326.3:c.*2756G>A, NM_013326.4:c.*2756G>A, NR_075075.1:n.*2653G>A, NR_075076.1:n.*2653G>A, XM_005258253.1:c.*1529G>A, XM_005258254.1:c.*2756G>A, XM_005258255.1:c.*2756G>A, XM_005258256.1:c.*2776G>A, XM_005258277.1:c.3628C>T, XM_005258278.1:c.3628C>T, XM_005258279.1:c.3577C>T, XM_005258280.1:c.3163C>TVOUS02/11/2019
349NPC1Ex23NM_000271.4:c.3591C>Tp.Ser1197= | p.S1197=NM_000271.3:c.3591C>T, NM_000271.4:c.3591C>T, NM_001276342.1:c.*2762G>A, NM_013326.3:c.*2742G>A, NM_013326.4:c.*2742G>A, NR_075075.1:n.*2639G>A, NR_075076.1:n.*2639G>A, XM_005258253.1:c.*1515G>A, XM_005258254.1:c.*2742G>A, XM_005258255.1:c.*2742G>A, XM_005258256.1:c.*2762G>A, XM_005258277.1:c.3642C>T, XM_005258278.1:c.3642C>T, XM_005258279.1:c.3591C>T, XM_005258280.1:c.3177C>TVOUS02/02/2021
350NPC1Ex23NM_000271.4:c.3591+4delANM_000271.3:c.3591+4delA, NM_000271.4:c.3591+4delA, NM_001276342.1:c.*2758delT, NM_013326.3:c.*2738delT, NM_013326.4:c.*2738delT, NR_075075.1:n.*2635delT, NR_075076.1:n.*2635delT, XM_005258253.1:c.*1511delT, XM_005258254.1:c.*2738delT, XM_005258255.1:c.*2738delT, XM_005258256.1:c.*2758delT, XM_005258277.1:c.3642+4delA, XM_005258278.1:c.3642+4delA, XM_005258279.1:c.3591+4delA, XM_005258280.1:c.3177+4delAVOUS12/04/2014
351NPC1Ex24NM_000271.4:c.3592-7_3592-3delCTTTTVOUS**
352NPC1Ex24NM_000271.4:c.3592-7_3592-5delCTTNM_000271.3:c.3592-7_3592-5delCTT, NM_000271.4:c.3592-7_3592-5delCTT, NM_001276342.1:c.*1838_*1840delAAG, NM_013326.3:c.*1818_*1820delAAG, NM_013326.4:c.*1818_*1820delAAG, NR_075075.1:n.*1715_*1717delAAG, NR_075076.1:n.*1715_*1717delAAG, XM_005258253.1:c.*591_*593delAAG, XM_005258254.1:c.*1818_*1820delAAG, XM_005258255.1:c.*1818_*1820delAAG, XM_005258256.1:c.*1838_*1840delAAG, XM_005258277.1:c.3643-7_3643-5delCTT, XM_005258278.1:c.3643-7_3643-5delCTT, XM_005258279.1:c.3592-7_3592-5delCTT, XM_005258280.1:c.3178-7_3178-5delCTTVOUS11/05/2018
353NPC1Ex24NM_000271.4:c.3598A>Gp.Ser1200Gly | p.S1200GNM_000271.3:c.3598A>G, NM_000271.4:c.3598A>G, NM_001276342.1:c.*1827T>C, NM_013326.3:c.*1807T>C, NM_013326.4:c.*1807T>C, NR_075075.1:n.*1704T>C, NR_075076.1:n.*1704T>C, XM_005258253.1:c.*580T>C, XM_005258254.1:c.*1807T>C, XM_005258255.1:c.*1807T>C, XM_005258256.1:c.*1827T>C, XM_005258277.1:c.3649A>G, XM_005258278.1:c.3649A>G, XM_005258279.1:c.3598A>G, XM_005258280.1:c.3184A>GBenign11/12/2015 
354NPC1Ex24NM_000271.4:c.3614C>Ap.Thr1205Lys | p.T1205KNM_000271.3:c.3614C>A, NM_000271.4:c.3614C>A, NM_001276342.1:c.*1811G>T, NM_013326.3:c.*1791G>T, NM_013326.4:c.*1791G>T, NR_075075.1:n.*1688G>T, NR_075076.1:n.*1688G>T, XM_005258253.1:c.*564G>T, XM_005258254.1:c.*1791G>T, XM_005258255.1:c.*1791G>T, XM_005258256.1:c.*1811G>T, XM_005258277.1:c.3665C>A, XM_005258278.1:c.3665C>A, XM_005258279.1:c.3614C>A, XM_005258280.1:c.3200C>ALikely pathogenic01/29/2016 
355NPC1Ex24NM_000271.4:c.3662T>Cp.Phe1221Ser | p.F1221SNM_000271.3:c.3662T>C, NM_000271.4:c.3662T>C, NM_001276342.1:c.*1763A>G, NM_013326.3:c.*1743A>G, NM_013326.4:c.*1743A>G, NR_075075.1:n.*1640A>G, NR_075076.1:n.*1640A>G, XM_005258253.1:c.*516A>G, XM_005258254.1:c.*1743A>G, XM_005258255.1:c.*1743A>G, XM_005258256.1:c.*1763A>G, XM_005258277.1:c.3713T>C, XM_005258278.1:c.3713T>C, XM_005258279.1:c.3662T>C, XM_005258280.1:c.3248T>CVOUS04/02/2020
356NPC1Ex24NM_000271.4:c.3662delTPathogenic** 
357NPC1Ex24NM_000271.4:c.3667A>Gp.Ile1223Val | p.I1223VNM_000271.3:c.3667A>G, NM_000271.4:c.3667A>G, NM_001276342.1:c.*1758T>C, NM_013326.3:c.*1738T>C, NM_013326.4:c.*1738T>C, NR_075075.1:n.*1635T>C, NR_075076.1:n.*1635T>C, XM_005258253.1:c.*511T>C, XM_005258254.1:c.*1738T>C, XM_005258255.1:c.*1738T>C, XM_005258256.1:c.*1758T>C, XM_005258277.1:c.3718A>G, XM_005258278.1:c.3718A>G, XM_005258279.1:c.3667A>G, XM_005258280.1:c.3253A>GVOUS03/11/2021
358NPC1Ex24NM_000271.4:c.3671T>Gp.Phe1224Cys | p.F1224CNM_000271.3:c.3671T>G, NM_000271.4:c.3671T>G, NM_001276342.1:c.*1754A>C, NM_013326.3:c.*1734A>C, NM_013326.4:c.*1734A>C, NR_075075.1:n.*1631A>C, NR_075076.1:n.*1631A>C, XM_005258253.1:c.*507A>C, XM_005258254.1:c.*1734A>C, XM_005258255.1:c.*1734A>C, XM_005258256.1:c.*1754A>C, XM_005258277.1:c.3722T>G, XM_005258278.1:c.3722T>G, XM_005258279.1:c.3671T>G, XM_005258280.1:c.3257T>GLikely pathogenic08/04/2016 
359NPC1Ex24NM_000271.4:c.3689T>Cp.Leu1230Ser | p.L1230SNM_000271.3:c.3689T>C, NM_000271.4:c.3689T>C, NM_001276342.1:c.*1736A>G, NM_013326.3:c.*1716A>G, NM_013326.4:c.*1716A>G, NR_075075.1:n.*1613A>G, NR_075076.1:n.*1613A>G, XM_005258253.1:c.*489A>G, XM_005258254.1:c.*1716A>G, XM_005258255.1:c.*1716A>G, XM_005258256.1:c.*1736A>G, XM_005258277.1:c.3740T>C, XM_005258278.1:c.3740T>C, XM_005258279.1:c.3689T>C, XM_005258280.1:c.3275T>CVOUS02/13/2020
360NPC1Ex24NM_000271.4:c.3717C>Tp.His1239= | p.H1239=NM_000271.3:c.3717C>T, NM_000271.4:c.3717C>T, NM_001276342.1:c.*1708G>A, NM_013326.3:c.*1688G>A, NM_013326.4:c.*1688G>A, NR_075075.1:n.*1585G>A, NR_075076.1:n.*1585G>A, XM_005258253.1:c.*461G>A, XM_005258254.1:c.*1688G>A, XM_005258255.1:c.*1688G>A, XM_005258256.1:c.*1708G>A, XM_005258277.1:c.3768C>T, XM_005258278.1:c.3768C>T, XM_005258279.1:c.3717C>T, XM_005258280.1:c.3303C>TVOUS12/11/2019
361NPC1Ex24NM_000271.4:c.3732C>Tp.Leu1244= | p.L1244=NM_000271.3:c.3732C>T, NM_000271.4:c.3732C>T, NM_001276342.1:c.*1693G>A, NM_013326.3:c.*1673G>A, NM_013326.4:c.*1673G>A, NR_075075.1:n.*1570G>A, NR_075076.1:n.*1570G>A, XM_005258253.1:c.*446G>A, XM_005258254.1:c.*1673G>A, XM_005258255.1:c.*1673G>A, XM_005258256.1:c.*1693G>A, XM_005258277.1:c.3783C>T, XM_005258278.1:c.3783C>T, XM_005258279.1:c.3732C>T, XM_005258280.1:c.3318C>TVOUS08/15/2019
362NPC1Ex24NM_000271.4:c.3734_3735delCTp.Pro1245Argfs*12 | p.P1245RfsX12NM_000271.3:c.3734_3735delCT, NM_000271.4:c.3734_3735delCT, NM_001276342.1:c.*1690_*1691delAG, NM_013326.3:c.*1670_*1671delAG, NM_013326.4:c.*1670_*1671delAG, NR_075075.1:n.*1567_*1568delAG, NR_075076.1:n.*1567_*1568delAG, XM_005258253.1:c.*443_*444delAG, XM_005258254.1:c.*1670_*1671delAG, XM_005258255.1:c.*1670_*1671delAG, XM_005258256.1:c.*1690_*1691delAG, XM_005258277.1:c.3785_3786delCT, XM_005258278.1:c.3785_3786delCT, XM_005258279.1:c.3734_3735delCT, XM_005258280.1:c.3320_3321delCTLikely pathogenic03/20/2017 
363NPC1Ex24NM_000271.4:c.3754+34A>GNM_000271.3:c.3754+34A>G, NM_000271.4:c.3754+34A>G, NM_001276342.1:c.*1637T>C, NM_013326.3:c.*1617T>C, NM_013326.4:c.*1617T>C, NR_075075.1:n.*1514T>C, NR_075076.1:n.*1514T>C, XM_005258253.1:c.*390T>C, XM_005258254.1:c.*1617T>C, XM_005258255.1:c.*1617T>C, XM_005258256.1:c.*1637T>C, XM_005258277.1:c.3805+34A>G, XM_005258278.1:c.3805+34A>G, XM_005258279.1:c.3754+34A>G, XM_005258280.1:c.3340+34A>GBenign** 
364NPC1Ex25NM_000271.4:c.3773C>Tp.Ala1258Val | p.A1258VNM_000271.3:c.3773C>T, NM_000271.4:c.3773C>T, NM_001276342.1:c.*582G>A, NM_013326.3:c.*562G>A, NM_013326.4:c.*562G>A, NR_075075.1:n.*459G>A, NR_075076.1:n.*459G>A, XM_005258253.1:c.1895-619G>A, XM_005258254.1:c.*562G>A, XM_005258255.1:c.*562G>A, XM_005258256.1:c.*582G>A, XM_005258277.1:c.3805+1089C>T, XM_005258278.1:c.3824C>T, XM_005258279.1:c.3754+1089C>T, XM_005258280.1:c.3340+1089C>TVOUS11/08/2018
365NPC1Ex25NM_000271.4:c.3783dupTp.Ala1262Cysfs*3 | p.A1262CfsX3NM_000271.3:c.3783dupT, NM_000271.4:c.3783dupT, NM_001276342.1:c.*572dupA, NM_013326.3:c.*552dupA, NM_013326.4:c.*552dupA, NR_075075.1:n.*449dupA, NR_075076.1:n.*449dupA, XM_005258253.1:c.1895-629dupA, XM_005258254.1:c.*552dupA, XM_005258255.1:c.*552dupA, XM_005258256.1:c.*572dupA, XM_005258277.1:c.3805+1099dupT, XM_005258278.1:c.3834dupT, XM_005258279.1:c.3754+1099dupT, XM_005258280.1:c.3340+1099dupTVOUS03/20/2018
366NPC1Ex25NM_000271.4:c.3794A>Tp.Glu1265Val | p.E1265VNM_000271.3:c.3794A>T, NM_000271.4:c.3794A>T, NM_001276342.1:c.*561T>A, NM_013326.3:c.*541T>A, NM_013326.4:c.*541T>A, NR_075075.1:n.*438T>A, NR_075076.1:n.*438T>A, XM_005258253.1:c.1895-640T>A, XM_005258254.1:c.*541T>A, XM_005258255.1:c.*541T>A, XM_005258256.1:c.*561T>A, XM_005258277.1:c.3805+1110A>T, XM_005258278.1:c.3845A>T, XM_005258279.1:c.3754+1110A>T, XM_005258280.1:c.3340+1110A>TVOUS03/01/2021
367NPC1Ex25NM_000271.4:c.3797G>Ap.Arg1266Gln | p.R1266QNM_000271.3:c.3797G>A, NM_000271.4:c.3797G>A, NM_013326.3:c.*538C>TBenign07/24/2015 
368NPC1Ex25NM_000271.4:c.3809C>Ap.Thr1270Lys | p.T1270KNM_000271.3:c.3809C>A, NM_000271.4:c.3809C>A, NM_001276342.1:c.*546G>T, NM_013326.3:c.*526G>T, NM_013326.4:c.*526G>T, NR_075075.1:n.*423G>T, NR_075076.1:n.*423G>T, XM_005258253.1:c.1895-655G>T, XM_005258254.1:c.*526G>T, XM_005258255.1:c.*526G>T, XM_005258256.1:c.*546G>T, XM_005258277.1:c.3805+1125C>A, XM_005258278.1:c.3860C>A, XM_005258279.1:c.3754+1125C>A, XM_005258280.1:c.3340+1125C>AVOUS11/09/2020
369NPC1Ex25NM_000271.4:c.3811G>Cp.Glu1271Gln | p.E1271QNM_000271.3:c.3811G>C, NM_000271.4:c.3811G>C, NM_001276342.1:c.*544C>G, NM_013326.3:c.*524C>G, NM_013326.4:c.*524C>G, NR_075075.1:n.*421C>G, NR_075076.1:n.*421C>G, XM_005258253.1:c.1895-657C>G, XM_005258254.1:c.*524C>G, XM_005258255.1:c.*524C>G, XM_005258256.1:c.*544C>G, XM_005258277.1:c.3805+1127G>C, XM_005258278.1:c.3862G>C, XM_005258279.1:c.3754+1127G>C, XM_005258280.1:c.3340+1127G>CVOUS09/29/2017
370NPC1Ex25NM_000271.4:c.3812A>Cp.Glu1271Ala | p.E1271ANM_000271.3:c.3812A>C, NM_000271.4:c.3812A>C, NM_001276342.1:c.*543T>G, NM_013326.3:c.*523T>G, NM_013326.4:c.*523T>G, NR_075075.1:n.*420T>G, NR_075076.1:n.*420T>G, XM_005258253.1:c.1895-658T>G, XM_005258254.1:c.*523T>G, XM_005258255.1:c.*523T>G, XM_005258256.1:c.*543T>G, XM_005258277.1:c.3805+1128A>C, XM_005258278.1:c.3863A>C, XM_005258279.1:c.3754+1128A>C, XM_005258280.1:c.3340+1128A>CVOUS07/22/2019
371NPC1Ex25NM_000271.4:c.3814C>Tp.Arg1272Cys | p.R1272CNM_000271.3:c.3814C>T, NM_000271.4:c.3814C>T, NM_001276342.1:c.*541G>A, NM_013326.3:c.*521G>A, NM_013326.4:c.*521G>A, NR_075075.1:n.*418G>A, NR_075076.1:n.*418G>A, XM_005258253.1:c.1895-660G>A, XM_005258254.1:c.*521G>A, XM_005258255.1:c.*521G>A, XM_005258256.1:c.*541G>A, XM_005258277.1:c.3805+1130C>T, XM_005258278.1:c.3865C>T, XM_005258279.1:c.3754+1130C>T, XM_005258280.1:c.3340+1130C>TVOUS02/03/2020
372NPC1Ex25NM_000271.4:c.3815G>Ap.Arg1272His | p.R1272HNM_000271.3:c.3815G>A, NM_000271.4:c.3815G>A, NM_001276342.1:c.*540C>T, NM_013326.3:c.*520C>T, NM_013326.4:c.*520C>T, NR_075075.1:n.*417C>T, NR_075076.1:n.*417C>T, XM_005258253.1:c.1895-661C>T, XM_005258254.1:c.*520C>T, XM_005258255.1:c.*520C>T, XM_005258256.1:c.*540C>T, XM_005258277.1:c.3805+1131G>A, XM_005258278.1:c.3866G>A, XM_005258279.1:c.3754+1131G>A, XM_005258280.1:c.3340+1131G>AVOUS05/21/2019
373NPC1Ex25NM_000271.4:c.3816C>Tp.Arg1272= | p.R1272=NM_000271.3:c.3816C>T, NM_000271.4:c.3816C>T, NM_001276342.1:c.*539G>A, NM_013326.3:c.*519G>A, NM_013326.4:c.*519G>A, NR_075075.1:n.*416G>A, NR_075076.1:n.*416G>A, XM_005258253.1:c.1895-662G>A, XM_005258254.1:c.*519G>A, XM_005258255.1:c.*519G>A, XM_005258256.1:c.*539G>A, XM_005258277.1:c.3805+1132C>T, XM_005258278.1:c.3867C>T, XM_005258279.1:c.3754+1132C>T, XM_005258280.1:c.3340+1132C>TVOUS02/22/2018
374NPC1Ex25NM_000271.4:c.3820C>Tp.Arg1274Trp | p.R1274WNM_000271.3:c.3820C>T, NM_000271.4:c.3820C>T, NM_001276342.1:c.*535G>A, NM_013326.3:c.*515G>A, NM_013326.4:c.*515G>A, NR_075075.1:n.*412G>A, NR_075076.1:n.*412G>A, XM_005258253.1:c.1895-666G>A, XM_005258254.1:c.*515G>A, XM_005258255.1:c.*515G>A, XM_005258256.1:c.*535G>A, XM_005258277.1:c.3805+1136C>T, XM_005258278.1:c.3871C>T, XM_005258279.1:c.3754+1136C>T, XM_005258280.1:c.3340+1136C>TVOUS06/22/2018
375NPC1Ex25NM_000271.4:c.3821G>Ap.Arg1274Gln | p.R1274QNM_000271.3:c.3821G>A, NM_000271.4:c.3821G>A, NM_001276342.1:c.*534C>T, NM_013326.3:c.*514C>T, NM_013326.4:c.*514C>T, NR_075075.1:n.*411C>T, NR_075076.1:n.*411C>T, XM_005258253.1:c.1895-667C>T, XM_005258254.1:c.*514C>T, XM_005258255.1:c.*514C>T, XM_005258256.1:c.*534C>T, XM_005258277.1:c.3805+1137G>A, XM_005258278.1:c.3872G>A, XM_005258279.1:c.3754+1137G>A, XM_005258280.1:c.3340+1137G>AVOUS10/22/2020

* Review is pending
** Variant has not been reviewed since the launch of this product (6/15/2012)

URL Parameter Syntax

EmVClass may be automatically searched using the argument [approved_symbol] such as in the example link for the gene CFTR: https://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR

Download

EmVClass data for all genes and variants that have been seen and analyzed by NTD Genetics may be downloaded as a CSV plain text file which is designated to be updated quarterly. Data is subject to change and format is subject to modification.

EmVClass.2021-Q4.csv

Disclaimer

The interpretation of nucleotide changes is based on our current understanding of the variant at the time it was observed in a clinical case. Interpretations may not be current. Some data may not be represented. These interpretations may change over time as more information about the genes becomes available. The data presented here are not intended for clinical use outside of the context of an official NTD Genetics clinical report and should be approached with caution. Only variants identified at NTD Genetics are listed in the EmVClass. If you intend to use NTD Genetics' classification for publication purposes please contact the laboratory for permission.