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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  
1POMT1Ex2NM_007171.3:c.4T>Cp.Trp2Arg | p.W2RLRG_842t1:c.4T>C, NM_001077365.1:c.4T>C, NM_001077366.1:c.-41+1149T>C, NM_001136113.1:c.4T>C, NM_001136114.1:c.-123+1149T>C, NM_007171.3:c.4T>C, NM_013318.3:c.*8348T>C, XM_005272156.1:c.4T>C, XM_005272157.1:c.4T>C, XM_005272158.1:c.-41+1149T>C, XM_005272159.1:c.-123+1149T>C, XM_005272160.1:c.-19+1149T>C, XM_005272161.1:c.-5398T>C, XM_005272162.1:c.-1396T>C, XM_005272227.1:c.*8348T>C, XM_005272228.1:c.*8440T>C, XM_005272229.1:c.*8440T>CVOUS10/01/2019
2POMT1Ex2NM_007171.3:c.-6T>GBenign** 
3POMT1Ex2NM_007171.3:c.30G>Ap.Val10= | p.V10=LRG_842t1:c.30G>A, NM_001077365.1:c.30G>A, NM_001077366.1:c.-41+1175G>A, NM_001136113.1:c.30G>A, NM_001136114.1:c.-123+1175G>A, NM_007171.3:c.30G>A, NM_013318.3:c.*8374G>A, XM_005272156.1:c.30G>A, XM_005272157.1:c.30G>A, XM_005272158.1:c.-41+1175G>A, XM_005272159.1:c.-123+1175G>A, XM_005272160.1:c.-19+1175G>A, XM_005272161.1:c.-5372G>A, XM_005272162.1:c.-1370G>A, XM_005272227.1:c.*8374G>A, XM_005272228.1:c.*8466G>A, XM_005272229.1:c.*8466G>AVOUS04/02/2018
4POMT1Ex2NM_007171.3:c.36G>Ap.Thr12= | p.T12=LRG_842t1:c.36G>A, NM_001077365.1:c.36G>A, NM_001077366.1:c.-41+1181G>A, NM_001136113.1:c.36G>A, NM_001136114.1:c.-123+1181G>A, NM_007171.3:c.36G>A, NM_013318.3:c.*8380G>A, XM_005272156.1:c.36G>A, XM_005272157.1:c.36G>A, XM_005272158.1:c.-41+1181G>A, XM_005272159.1:c.-123+1181G>A, XM_005272160.1:c.-19+1181G>A, XM_005272161.1:c.-5366G>A, XM_005272162.1:c.-1364G>A, XM_005272227.1:c.*8380G>A, XM_005272228.1:c.*8472G>A, XM_005272229.1:c.*8472G>AVOUS06/14/2017
5POMT1Ex2NM_007171.3:c.42C>Tp.Asp14= | p.D14=NM_001077365.1:c.42C>T, NM_001077366.1:c.-41+1187C>T, NM_001136113.1:c.42C>T, NM_001136114.1:c.-123+1187C>T, NM_007171.3:c.42C>T, NM_013318.3:c.*8386C>T, XM_005272156.1:c.42C>T, XM_005272157.1:c.42C>T, XM_005272158.1:c.-41+1187C>T, XM_005272159.1:c.-123+1187C>T, XM_005272160.1:c.-19+1187C>T, XM_005272161.1:c.-5360C>T, XM_005272162.1:c.-1358C>T, XM_005272227.1:c.*8386C>T, XM_005272228.1:c.*8478C>T, XM_005272229.1:c.*8478C>TVOUS01/25/2018
6POMT1Ex2NM_007171.3:c.57T>Cp.Leu19= | p.L19=NM_001077365.1:c.57T>C, NM_001077366.1:c.-41+1202T>C, NM_001136113.1:c.57T>C, NM_001136114.1:c.-123+1202T>C, NM_007171.3:c.57T>C, NM_013318.3:c.*8401T>C, XM_005272156.1:c.57T>C, XM_005272157.1:c.57T>C, XM_005272158.1:c.-41+1202T>C, XM_005272159.1:c.-123+1202T>C, XM_005272160.1:c.-19+1202T>C, XM_005272161.1:c.-5345T>C, XM_005272162.1:c.-1343T>C, XM_005272227.1:c.*8401T>C, XM_005272228.1:c.*8493T>C, XM_005272229.1:c.*8493T>CVOUS02/12/2016
7POMT1Ex2NM_007171.3:c.78G>Ap.Gly26= | p.G26=NM_001077365.1:c.78G>A, NM_001077366.1:c.-41+1223G>A, NM_001136113.1:c.78G>A, NM_001136114.1:c.-123+1223G>A, NM_007171.3:c.78G>A, NM_013318.3:c.*8422G>A, XM_005272156.1:c.78G>A, XM_005272157.1:c.78G>A, XM_005272158.1:c.-41+1223G>A, XM_005272159.1:c.-123+1223G>A, XM_005272160.1:c.-19+1223G>A, XM_005272161.1:c.-5324G>A, XM_005272162.1:c.-1322G>A, XM_005272227.1:c.*8422G>A, XM_005272228.1:c.*8514G>A, XM_005272229.1:c.*8514G>ABenign01/27/2015 
8POMT1Ex2NM_007171.3:c.122+5G>ANM_001077365.1:c.122+5G>A, NM_001077366.1:c.-41+1272G>A, NM_001136113.1:c.122+5G>A, NM_001136114.1:c.-123+1272G>A, NM_007171.3:c.122+5G>A, NM_013318.3:c.*8471G>A, XM_005272156.1:c.122+5G>A, XM_005272157.1:c.122+5G>A, XM_005272158.1:c.-41+1272G>A, XM_005272159.1:c.-123+1272G>A, XM_005272160.1:c.-19+1272G>A, XM_005272161.1:c.-5275G>A, XM_005272162.1:c.-1278+5G>A, XM_005272227.1:c.*8471G>A, XM_005272228.1:c.*8563G>A, XM_005272229.1:c.*8563G>AVOUS01/08/2016
9POMT1Ex3NM_007171.3:c.123-7_123-6dupTTLRG_842t1:c.123-6_123-5insTT, NM_001077365.1:c.123-6_123-5insTT, NM_001077366.1:c.-40-6_-40-5insTT, NM_001136113.1:c.123-6_123-5insTT, NM_001136114.1:c.-122-295_-122-294insTT, NM_007171.3:c.123-6_123-5insTT, XM_005272157.1:c.123-295_123-294insTT, XM_005272158.1:c.-40-6_-40-5insTT, XM_005272159.1:c.-122-295_-122-294insTTBenign04/09/2014 
10POMT1Ex3NM_007171.3:c.123-6_123-5dupTTLRG_842t1:c.123-6_123-5dupTT, NM_001077365.1:c.123-5_123-4insTT, NM_001077365.1:c.123-6_123-5dupTT, NM_001077366.1:c.-40-5_-40-4insTT, NM_001077366.1:c.-40-6_-40-5dupTT, NM_001136113.1:c.123-5_123-4insTT, NM_001136113.1:c.123-6_123-5dupTT, NM_001136114.1:c.-122-294_-122-293insTT, NM_001136114.1:c.-122-295_-122-294dupTT, NM_007171.3:c.123-5_123-4insTT, NM_007171.3:c.123-6_123-5dupTT, XM_005272156.1:c.123-5_123-4insTT, XM_005272156.1:c.123-6_123-5dupTT, XM_005272157.1:c.123-294_123-293insTT, XM_005272157.1:c.123-295_123-294dupTT, XM_005272158.1:c.-40-5_-40-4insTT, XM_005272158.1:c.-40-6_-40-5dupTT, XM_005272159.1:c.-122-294_-122-293insTT, XM_005272159.1:c.-122-295_-122-294dupTT, XM_005272160.1:c.-18-294_-18-293insTT, XM_005272160.1:c.-18-295_-18-294dupTT, XM_005272161.1:c.-3511_-3510insTT, XM_005272161.1:c.-3512_-3511dupTT, XM_005272162.1:c.-1277-5_-1277-4insTT, XM_005272162.1:c.-1277-6_-1277-5dupTTBenign03/13/2015 
11POMT1Ex3NM_007171.3:c.123-6T>CLRG_842t1:c.123-6T>C, NM_001077365.1:c.123-6T>C, NM_001077366.1:c.-40-6T>C, NM_001136113.1:c.123-6T>C, NM_001136114.1:c.-122-295T>C, NM_007171.3:c.123-6T>C, XM_005272156.1:c.123-6T>C, XM_005272157.1:c.123-295T>C, XM_005272158.1:c.-40-6T>C, XM_005272159.1:c.-122-295T>C, XM_005272160.1:c.-18-295T>C, XM_005272161.1:c.-3512T>C, XM_005272162.1:c.-1277-6T>CVOUS08/07/2017
12POMT1Ex3NM_007171.3:c.123-5dupT** ERROR **, LRG_842t1:c.123-5dupT, NM_001077365.1:c.123-5_123-4insT, NM_001077365.1:c.123-5dupT, NM_001077366.1:c.-40-5_-40-4insT, NM_001077366.1:c.-40-5dupT, NM_001136113.1:c.123-5_123-4insT, NM_001136113.1:c.123-5dupT, NM_001136114.1:c.-122-294_-122-293insT, NM_001136114.1:c.-122-294dupT, NM_007171.3:c.123-4_123-3insT, NM_007171.3:c.123-5_123-4insT, NM_007171.3:c.123-5dupT, XM_005272156.1:c.123-5dupT, XM_005272157.1:c.123-294dupT, XM_005272158.1:c.-40-5dupT, XM_005272159.1:c.-122-294dupT, XM_005272160.1:c.-18-294dupT, XM_005272161.1:c.-3511dupT, XM_005272162.1:c.-1277-5dupTBenign12/17/2014 
13POMT1Ex3NM_007171.3:c.129C>Tp.Asp43= | p.D43=NM_001077365.1:c.129C>T, NM_001077366.1:c.-34C>T, NM_001136113.1:c.129C>T, NM_001136114.1:c.-122-283C>T, NM_007171.3:c.129C>T, XM_005272156.1:c.129C>T, XM_005272157.1:c.123-283C>T, XM_005272158.1:c.-34C>T, XM_005272159.1:c.-122-283C>T, XM_005272160.1:c.-18-283C>T, XM_005272161.1:c.-3500C>T, XM_005272162.1:c.-1271C>TVOUS05/12/2015
14POMT1Ex3NM_007171.3:c.132A>Cp.Glu44Asp | p.E44DLRG_842t1:c.132A>C, NM_001077365.1:c.132A>C, NM_001077366.1:c.-31A>C, NM_001136113.1:c.132A>C, NM_001136114.1:c.-122-280A>C, NM_007171.3:c.132A>C, XM_005272156.1:c.132A>C, XM_005272157.1:c.123-280A>C, XM_005272158.1:c.-31A>C, XM_005272159.1:c.-122-280A>C, XM_005272160.1:c.-18-280A>C, XM_005272161.1:c.-3497A>C, XM_005272162.1:c.-1268A>CLikely pathogenic07/06/2017 
15POMT1Ex3NM_007171.3:c.141T>Cp.Tyr47= | p.Y47=LRG_842t1:c.141T>C, NM_001077365.1:c.141T>C, NM_001077366.1:c.-22T>C, NM_001136113.1:c.141T>C, NM_001136114.1:c.-122-271T>C, NM_007171.3:c.141T>C, XM_005272156.1:c.141T>C, XM_005272157.1:c.123-271T>C, XM_005272158.1:c.-22T>C, XM_005272159.1:c.-122-271T>C, XM_005272160.1:c.-18-271T>C, XM_005272161.1:c.-3488T>C, XM_005272162.1:c.-1259T>CVOUS11/09/2017
16POMT1Ex3NM_007171.3:c.151A>Tp.Ile51Phe | p.I51FLRG_842t1:c.151A>T, NM_001077365.1:c.151A>T, NM_001077366.1:c.-12A>T, NM_001136113.1:c.151A>T, NM_001136114.1:c.-122-261A>T, NM_007171.3:c.151A>T, XM_005272156.1:c.151A>T, XM_005272157.1:c.123-261A>T, XM_005272158.1:c.-12A>T, XM_005272159.1:c.-122-261A>T, XM_005272160.1:c.-18-261A>T, XM_005272161.1:c.-3478A>T, XM_005272162.1:c.-1249A>TVOUS09/01/2016
17POMT1Ex3NM_007171.3:c.180_182delCTTp.Phe60del | p.F60delLRG_842t1:c.180_182delCTT, NM_001077365.1:c.180_182delCTT, NM_001077366.1:c.18_20delCTT, NM_001136113.1:c.180_182delCTT, NM_001136114.1:c.-122-232_-122-230delCTT, NM_007171.3:c.180_182delCTT, XM_005272156.1:c.180_182delCTT, XM_005272157.1:c.123-232_123-230delCTT, XM_005272158.1:c.18_20delCTT, XM_005272159.1:c.-122-232_-122-230delCTT, XM_005272160.1:c.-18-232_-18-230delCTT, XM_005272161.1:c.-3449_-3447delCTT, XM_005272162.1:c.-1220_-1218delCTTLikely pathogenic03/13/2019 
18POMT1Ex3NM_007171.3:c.181T>Ap.Leu61Met | p.L61MNM_001077365.1:c.181T>A, NM_001077366.1:c.19T>A, NM_001136113.1:c.181T>A, NM_001136114.1:c.-122-231T>A, NM_007171.3:c.181T>A, XM_005272156.1:c.181T>A, XM_005272157.1:c.123-231T>A, XM_005272158.1:c.19T>A, XM_005272159.1:c.-122-231T>A, XM_005272160.1:c.-18-231T>A, XM_005272161.1:c.-3448T>A, XM_005272162.1:c.-1219T>AVOUS11/02/2015
19POMT1Ex3NM_007171.3:c.197C>Gp.Pro66Arg | p.P66RNM_001077365.1:c.197C>G, NM_001077366.1:c.35C>G, NM_001136113.1:c.197C>G, NM_001136114.1:c.-122-215C>G, NM_007171.3:c.197C>G, XM_005272156.1:c.197C>G, XM_005272157.1:c.123-215C>G, XM_005272158.1:c.35C>G, XM_005272159.1:c.-122-215C>G, XM_005272160.1:c.-18-215C>G, XM_005272161.1:c.-3432C>G, XM_005272162.1:c.-1203C>GVOUS04/07/2015
20POMT1Ex3NM_007171.3:c.197C>Tp.Pro66Leu | p.P66LLRG_842t1:c.197C>T, NM_001077365.1:c.197C>T, NM_001077366.1:c.35C>T, NM_001136113.1:c.197C>T, NM_001136114.1:c.-122-215C>T, NM_007171.3:c.197C>T, XM_005272156.1:c.197C>T, XM_005272157.1:c.123-215C>T, XM_005272158.1:c.35C>T, XM_005272159.1:c.-122-215C>T, XM_005272160.1:c.-18-215C>T, XM_005272161.1:c.-3432C>T, XM_005272162.1:c.-1203C>TVOUS05/24/2017
21POMT1Ex3NM_007171.3:c.202T>Cp.Phe68Leu | p.F68LLRG_842t1:c.202T>C, NM_001077365.1:c.202T>C, NM_001077366.1:c.40T>C, NM_001136113.1:c.202T>C, NM_001136114.1:c.-122-210T>C, NM_007171.3:c.202T>C, XM_005272156.1:c.202T>C, XM_005272157.1:c.123-210T>C, XM_005272158.1:c.40T>C, XM_005272159.1:c.-122-210T>C, XM_005272160.1:c.-18-210T>C, XM_005272161.1:c.-3427T>C, XM_005272162.1:c.-1198T>CVOUS10/25/2016
22POMT1Ex3NM_007171.3:c.208C>Ap.His70Asn | p.H70NLRG_842t1:c.208C>A, NM_001077365.1:c.208C>A, NM_001077366.1:c.46C>A, NM_001136113.1:c.208C>A, NM_001136114.1:c.-122-204C>A, NM_007171.3:c.208C>A, XM_005272156.1:c.208C>A, XM_005272157.1:c.123-204C>A, XM_005272158.1:c.46C>A, XM_005272159.1:c.-122-204C>A, XM_005272160.1:c.-18-204C>A, XM_005272161.1:c.-3421C>A, XM_005272162.1:c.-1192C>AVOUS03/17/2016
23POMT1Ex3NM_007171.3:c.214G>Tp.Val72Leu | p.V72LNM_001077365.1:c.214G>T, NM_001077366.1:c.52G>T, NM_001136113.1:c.214G>T, NM_001136114.1:c.-122-198G>T, NM_007171.3:c.214G>T, XM_005272156.1:c.214G>T, XM_005272157.1:c.123-198G>T, XM_005272158.1:c.52G>T, XM_005272159.1:c.-122-198G>T, XM_005272160.1:c.-18-198G>T, XM_005272161.1:c.-3415G>T, XM_005272162.1:c.-1186G>TVOUS02/23/2016
24POMT1Ex4NM_007171.3:c.246C>Tp.Phe82= | p.F82=LRG_842t1:c.246C>T, NM_001077365.1:c.246C>T, NM_001077366.1:c.84C>T, NM_001136113.1:c.246C>T, NM_001136114.1:c.-106C>T, NM_007171.3:c.246C>T, XM_005272156.1:c.246C>T, XM_005272157.1:c.139C>T, XM_005272158.1:c.84C>T, XM_005272159.1:c.-106C>T, XM_005272160.1:c.-2C>T, XM_005272161.1:c.-3201C>T, XM_005272162.1:c.-1154C>TVOUS12/18/2018
25POMT1Ex4NM_007171.3:c.247G>Ap.Asp83Asn | p.D83NLRG_842t1:c.247G>A, NM_001077365.1:c.247G>A, NM_001077366.1:c.85G>A, NM_001136113.1:c.247G>A, NM_001136114.1:c.-105G>A, NM_007171.3:c.247G>A, XM_005272156.1:c.247G>A, XM_005272157.1:c.140G>A, XM_005272158.1:c.85G>A, XM_005272159.1:c.-105G>A, XM_005272160.1:c.-1G>A, XM_005272161.1:c.-3200G>A, XM_005272162.1:c.-1153G>AVOUS09/06/2016
26POMT1Ex5NM_007171.3:c.310C>Tp.Leu104= | p.L104=LRG_842t1:c.310C>T, NM_001077365.1:c.310C>T, NM_001077366.1:c.148C>T, NM_001136113.1:c.310C>T, NM_001136114.1:c.-42C>T, NM_007171.3:c.310C>T, XM_005272156.1:c.310C>T, XM_005272157.1:c.220C>T, XM_005272158.1:c.148C>T, XM_005272159.1:c.-42C>T, XM_005272160.1:c.33+944C>T, XM_005272161.1:c.-2223C>T, XM_005272162.1:c.-1090C>TVOUS06/15/2017
27POMT1Ex5NM_007171.3:c.330C>Gp.Leu110= | p.L110=NM_001077365.1:c.330C>G, NM_001077366.1:c.168C>G, NM_001136113.1:c.330C>G, NM_001136114.1:c.-22C>G, NM_007171.3:c.330C>G, XM_005272156.1:c.330C>G, XM_005272157.1:c.240C>G, XM_005272158.1:c.168C>G, XM_005272159.1:c.-22C>G, XM_005272160.1:c.33+964C>G, XM_005272161.1:c.-2203C>G, XM_005272162.1:c.-1070C>GVOUS10/22/2015
28POMT1Ex5NM_007171.3:c.345G>Ap.Ser115= | p.S115=NM_001077365.1:c.345G>A, NM_001077366.1:c.183G>A, NM_001136113.1:c.345G>A, NM_001136114.1:c.-7G>A, NM_007171.3:c.345G>A, XM_005272156.1:c.345G>A, XM_005272157.1:c.255G>A, XM_005272158.1:c.183G>A, XM_005272159.1:c.-7G>A, XM_005272160.1:c.33+979G>A, XM_005272161.1:c.-2188G>A, XM_005272162.1:c.-1055G>AVOUS05/05/2017
29POMT1Ex5NM_007171.3:c.401T>Cp.Met134Thr | p.M134TLRG_842t1:c.401T>C, NM_001077365.1:c.401T>C, NM_001077366.1:c.239T>C, NM_001136113.1:c.401T>C, NM_001136114.1:c.50T>C, NM_007171.3:c.401T>C, XM_005272156.1:c.401T>C, XM_005272157.1:c.311T>C, XM_005272158.1:c.239T>C, XM_005272159.1:c.50T>C, XM_005272160.1:c.33+1035T>C, XM_005272161.1:c.-2132T>C, XM_005272162.1:c.-999T>CVOUS04/19/2018
30POMT1Ex5NM_007171.3:c.424A>Tp.Ile142Phe | p.I142FNM_001077365.1:c.424A>T, NM_001077366.1:c.262A>T, NM_001136113.1:c.424A>T, NM_001136114.1:c.73A>T, NM_007171.3:c.424A>T, XM_005272156.1:c.424A>T, XM_005272157.1:c.334A>T, XM_005272158.1:c.262A>T, XM_005272159.1:c.73A>T, XM_005272160.1:c.33+1058A>T, XM_005272161.1:c.-2109A>T, XM_005272162.1:c.-976A>TVOUS12/04/2015
31POMT1Ex5NM_007171.3:c.425T>Cp.Ile142Thr | p.I142TLRG_842t1:c.425T>C, NM_001077365.1:c.425T>C, NM_001077366.1:c.263T>C, NM_001136113.1:c.425T>C, NM_001136114.1:c.74T>C, NM_007171.3:c.425T>C, XM_005272156.1:c.425T>C, XM_005272157.1:c.335T>C, XM_005272158.1:c.263T>C, XM_005272159.1:c.74T>C, XM_005272160.1:c.33+1059T>C, XM_005272161.1:c.-2108T>C, XM_005272162.1:c.-975T>CVOUS07/11/2018
32POMT1Ex6NM_007171.3:c.428-21T>CBenign** 
33POMT1Ex6NM_007171.3:c.452G>Cp.Arg151Thr | p.R151TLRG_842t1:c.452G>C, NM_001077365.1:c.452G>C, NM_001077366.1:c.290G>C, NM_001136113.1:c.452G>C, NM_001136114.1:c.101G>C, NM_007171.3:c.452G>C, XM_005272157.1:c.362G>C, XM_005272158.1:c.290G>C, XM_005272159.1:c.101G>CVOUS04/28/2016
34POMT1Ex6NM_007171.3:c.488A>Gp.Asn163Ser | p.N163SLRG_842t1:c.488A>G, NM_001077365.1:c.488A>G, NM_001077366.1:c.326A>G, NM_001136113.1:c.488A>G, NM_001136114.1:c.137A>G, NM_007171.3:c.488A>G, XM_005272156.1:c.488A>G, XM_005272157.1:c.398A>G, XM_005272158.1:c.326A>G, XM_005272159.1:c.137A>G, XM_005272160.1:c.34-1289A>G, XM_005272161.1:c.-649A>G, XM_005272162.1:c.-912A>GVOUS04/02/2018
35POMT1Ex7NM_007171.3:c.568C>Tp.Leu190= | p.L190=NM_001077365.1:c.568C>T, NM_001077366.1:c.406C>T, NM_001136113.1:c.568C>T, NM_001136114.1:c.217C>T, NM_007171.3:c.568C>T, XM_005272156.1:c.568C>T, XM_005272157.1:c.478C>T, XM_005272158.1:c.406C>T, XM_005272159.1:c.217C>T, XM_005272160.1:c.34-489C>T, XM_005272161.1:c.-569C>T, XM_005272162.1:c.-832C>TVOUS05/09/2017
36POMT1Ex7NM_007171.3:c.579_580delAGp.Val195Argfs*42 | p.V195RfsX42LRG_842t1:c.579_580delAG, NM_001077365.1:c.579_580delAG, NM_001077366.1:c.417_418delAG, NM_001136113.1:c.579_580delAG, NM_001136114.1:c.228_229delAG, NM_007171.3:c.579_580delAG, XM_005272156.1:c.579_580delAG, XM_005272157.1:c.489_490delAG, XM_005272158.1:c.417_418delAG, XM_005272159.1:c.228_229delAG, XM_005272160.1:c.34-478_34-477delAG, XM_005272161.1:c.-558_-557delAG, XM_005272162.1:c.-821_-820delAGPathogenic12/20/2018 
37POMT1Ex7NM_007171.3:c.586G>Ap.Ala196Thr | p.A196TNM_001077365.1:c.586G>A, NM_001077366.1:c.424G>A, NM_001136113.1:c.586G>A, NM_001136114.1:c.235G>A, NM_007171.3:c.586G>A, XM_005272156.1:c.586G>A, XM_005272157.1:c.496G>A, XM_005272158.1:c.424G>A, XM_005272159.1:c.235G>A, XM_005272160.1:c.34-471G>A, XM_005272161.1:c.-551G>A, XM_005272162.1:c.-814G>AVOUS03/08/2018
38POMT1Ex7NM_007171.3:c.592T>Ap.Ser198Thr | p.S198TLRG_842t1:c.592T>A, NM_001077365.1:c.592T>A, NM_001077366.1:c.430T>A, NM_001136113.1:c.592T>A, NM_001136114.1:c.241T>A, NM_007171.3:c.592T>A, XM_005272156.1:c.592T>A, XM_005272157.1:c.502T>A, XM_005272158.1:c.430T>A, XM_005272159.1:c.241T>A, XM_005272160.1:c.34-465T>A, XM_005272161.1:c.-545T>A, XM_005272162.1:c.-808T>AVOUS08/21/2019
39POMT1Ex7NM_007171.3:c.598G>Cp.Ala200Pro | p.A200PNM_001077365.1:c.598G>C, NM_001077366.1:c.436G>C, NM_001136113.1:c.598G>C, NM_001136114.1:c.247G>C, NM_007171.3:c.598G>C, XM_005272156.1:c.598G>C, XM_005272157.1:c.508G>C, XM_005272158.1:c.436G>C, XM_005272159.1:c.247G>C, XM_005272160.1:c.34-459G>C, XM_005272161.1:c.-539G>C, XM_005272162.1:c.-802G>CPathogenic04/10/2019 
40POMT1Ex7NM_007171.3:c.599C>Gp.Ala200Gly | p.A200GNM_001077365.1:c.599C>G, NM_001077366.1:c.437C>G, NM_001136113.1:c.599C>G, NM_001136114.1:c.248C>G, NM_007171.3:c.599C>G, XM_005272156.1:c.599C>G, XM_005272157.1:c.509C>G, XM_005272158.1:c.437C>G, XM_005272159.1:c.248C>G, XM_005272160.1:c.34-458C>G, XM_005272161.1:c.-538C>G, XM_005272162.1:c.-801C>GVOUS01/26/2016
41POMT1Ex8NM_007171.3:c.619G>Tp.Gly207Cys | p.G207CLRG_842t1:c.619G>T, NM_001077365.1:c.619G>T, NM_001077366.1:c.457G>T, NM_001136113.1:c.619G>T, NM_001136114.1:c.268G>T, NM_007171.3:c.619G>T, XM_005272156.1:c.619G>T, XM_005272157.1:c.529G>T, XM_005272158.1:c.457G>T, XM_005272159.1:c.268G>T, XM_005272160.1:c.34-344G>T, XM_005272161.1:c.-518G>T, XM_005272162.1:c.-781G>TVOUS12/06/2016
42POMT1Ex8NM_007171.3:c.620G>Ap.Gly207Asp | p.G207DLRG_842t1:c.620G>A, NM_001077365.1:c.620G>A, NM_001077366.1:c.458G>A, NM_001136113.1:c.620G>A, NM_001136114.1:c.269G>A, NM_007171.3:c.620G>A, XM_005272156.1:c.620G>A, XM_005272157.1:c.530G>A, XM_005272158.1:c.458G>A, XM_005272159.1:c.269G>A, XM_005272160.1:c.34-343G>A, XM_005272161.1:c.-517G>A, XM_005272162.1:c.-780G>AVOUS01/25/2018
43POMT1Ex8NM_007171.3:c.629C>Tp.Thr210Met | p.T210MLRG_842t1:c.629C>T, NM_001077365.1:c.629C>T, NM_001077366.1:c.467C>T, NM_001136113.1:c.629C>T, NM_001136114.1:c.278C>T, NM_007171.3:c.629C>T, XM_005272156.1:c.629C>T, XM_005272157.1:c.539C>T, XM_005272158.1:c.467C>T, XM_005272159.1:c.278C>T, XM_005272160.1:c.34-334C>T, XM_005272161.1:c.-508C>T, XM_005272162.1:c.-771C>TVOUS05/23/2017
44POMT1Ex8NM_007171.3:c.634G>Ap.Val212Met | p.V212MNM_001077365.1:c.634G>A, NM_001077366.1:c.472G>A, NM_001136113.1:c.634G>A, NM_001136114.1:c.283G>A, NM_007171.3:c.634G>A, XM_005272156.1:c.634G>A, XM_005272157.1:c.544G>A, XM_005272158.1:c.472G>A, XM_005272159.1:c.283G>A, XM_005272160.1:c.34-329G>A, XM_005272161.1:c.-503G>A, XM_005272162.1:c.-766G>AVOUS04/25/2018
45POMT1Ex8NM_007171.3:c.641T>Cp.Val214Ala | p.V214ALRG_842t1:c.641T>C, NM_001077365.1:c.641T>C, NM_001077366.1:c.479T>C, NM_001136113.1:c.641T>C, NM_001136114.1:c.290T>C, NM_007171.3:c.641T>C, XM_005272156.1:c.641T>C, XM_005272157.1:c.551T>C, XM_005272158.1:c.479T>C, XM_005272159.1:c.290T>C, XM_005272160.1:c.34-322T>C, XM_005272161.1:c.-496T>C, XM_005272162.1:c.-759T>CVOUS01/18/2017
46POMT1Ex8NM_007171.3:c.663T>Cp.His221= | p.H221=NM_001077365.1:c.663T>C, NM_001077366.1:c.501T>C, NM_001136113.1:c.663T>C, NM_001136114.1:c.312T>C, NM_007171.3:c.663T>C, XM_005272156.1:c.663T>C, XM_005272157.1:c.573T>C, XM_005272158.1:c.501T>C, XM_005272159.1:c.312T>C, XM_005272160.1:c.34-300T>C, XM_005272161.1:c.-474T>C, XM_005272162.1:c.-737T>CVOUS01/19/2016
47POMT1Ex8NM_007171.3:c.672C>Ap.His224Gln | p.H224QLRG_842t1:c.672C>A, NM_001077365.1:c.672C>A, NM_001077366.1:c.510C>A, NM_001136113.1:c.672C>A, NM_001136114.1:c.321C>A, NM_007171.3:c.672C>A, XM_005272156.1:c.672C>A, XM_005272157.1:c.582C>A, XM_005272158.1:c.510C>A, XM_005272159.1:c.321C>A, XM_005272160.1:c.34-291C>A, XM_005272161.1:c.-465C>A, XM_005272162.1:c.-728C>AVOUS10/14/2020
48POMT1Ex8NM_007171.3:c.697_699delAATp.Asn233del | p.N233delLRG_842t1:c.697_699delAAT, NM_001077365.1:c.697_699delAAT, NM_001077366.1:c.535_537delAAT, NM_001136113.1:c.697_699delAAT, NM_001136114.1:c.346_348delAAT, NM_007171.3:c.697_699delAAT, XM_005272156.1:c.697_699delAAT, XM_005272157.1:c.607_609delAAT, XM_005272158.1:c.535_537delAAT, XM_005272159.1:c.346_348delAAT, XM_005272160.1:c.34-266_34-264delAAT, XM_005272161.1:c.-440_-438delAAT, XM_005272162.1:c.-703_-701delAATVOUS03/07/2019
49POMT1Ex8NM_007171.3:c.698A>Gp.Asn233Ser | p.N233SLRG_842t1:c.698A>G, NM_001077365.1:c.698A>G, NM_001077366.1:c.536A>G, NM_001136113.1:c.698A>G, NM_001136114.1:c.347A>G, NM_007171.3:c.698A>G, XM_005272156.1:c.698A>G, XM_005272157.1:c.608A>G, XM_005272158.1:c.536A>G, XM_005272159.1:c.347A>G, XM_005272160.1:c.34-265A>G, XM_005272161.1:c.-439A>G, XM_005272162.1:c.-702A>GVOUS06/23/2016
50POMT1Ex8NM_007171.3:c.700G>Ap.Val234Ile | p.V234ILRG_842t1:c.700G>A, NM_001077365.1:c.699+1G>A, NM_001077366.1:c.537+1G>A, NM_001136113.1:c.699+1G>A, NM_001136114.1:c.348+1G>A, NM_007171.3:c.700G>A, XM_005272156.1:c.700G>A, XM_005272157.1:c.609+1G>A, XM_005272158.1:c.538G>A, XM_005272159.1:c.349G>A, XM_005272160.1:c.34-263G>A, XM_005272161.1:c.-438+1G>A, XM_005272162.1:c.-700G>AVOUS10/14/2020
51POMT1Ex8NM_007171.3:c.718T>Cp.Cys240Arg | p.C240RNM_001077365.1:c.699+19T>C, NM_001077366.1:c.537+19T>C, NM_001136113.1:c.699+19T>C, NM_001136114.1:c.348+19T>C, NM_007171.3:c.718T>C, XM_005272156.1:c.718T>C, XM_005272157.1:c.609+19T>C, XM_005272158.1:c.556T>C, XM_005272159.1:c.367T>C, XM_005272160.1:c.34-245T>C, XM_005272161.1:c.-438+19T>C, XM_005272162.1:c.-682T>CVOUS03/02/2015
52POMT1Ex8NM_007171.3:c.751_752delinsTALRG_842t1:c.751_752delinsTA, NM_001077365.1:c.699+52_699+53delinsTA, NM_001077366.1:c.537+52_537+53delinsTA, NM_001136113.1:c.699+52_699+53delinsTA, NM_001136114.1:c.348+52_348+53delinsTA, NM_007171.3:c.751_752delinsTA, XM_005272156.1:c.751_752delinsTA, XM_005272157.1:c.609+52_609+53delinsTA, XM_005272158.1:c.589_590delinsTA, XM_005272159.1:c.400_401delinsTA, XM_005272160.1:c.34-212_34-211delinsTA, XM_005272161.1:c.-438+52_-438+53delinsTA, XM_005272162.1:c.-649_-648delinsTABenign** 
53POMT1Ex8NM_007171.3:c.751C>Tp.Arg251Trp | p.R251WNM_001077365.1:c.699+52C>T, NM_001077366.1:c.537+52C>T, NM_001136113.1:c.699+52C>T, NM_001136114.1:c.348+52C>T, NM_007171.3:c.751C>TBenign07/24/2012 
54POMT1Ex8NM_007171.3:c.751_752delinsTGp.Gln251Trp | p.Q251WLRG_842t1:c.751_752delinsTG, NM_001077365.1:c.699+52_699+53delinsTG, NM_001077366.1:c.537+52_537+53delinsTG, NM_001136113.1:c.699+52_699+53delinsTG, NM_001136114.1:c.348+52_348+53delinsTG, NM_007171.3:c.751_752delinsTG, XM_005272156.1:c.751_752delinsTG, XM_005272157.1:c.609+52_609+53delinsTG, XM_005272158.1:c.589_590delinsTG, XM_005272159.1:c.400_401delinsTG, XM_005272160.1:c.34-212_34-211delinsTG, XM_005272161.1:c.-438+52_-438+53delinsTG, XM_005272162.1:c.-649_-648delinsTGBenign** 
55POMT1Ex8NM_007171.3:c.752G>Ap.Arg251Gln | p.R251QNM_001077365.1:c.699+53G>A, NM_001077366.1:c.537+53G>A, NM_001136113.1:c.699+53G>A, NM_001136114.1:c.348+53G>A, NM_007171.3:c.752G>A, XM_005272156.1:c.752G>A, XM_005272157.1:c.609+53G>A, XM_005272158.1:c.590G>A, XM_005272159.1:c.401G>A, XM_005272160.1:c.34-211G>A, XM_005272161.1:c.-438+53G>A, XM_005272162.1:c.-648G>ABenign11/02/2012 
56POMT1Ex8NM_007171.3:c.752A>Gp.Gln251Arg | p.Q251RLRG_842t1:c.752A>G, NM_001077365.1:c.699+53A>G, NM_001077366.1:c.537+53A>G, NM_001136113.1:c.699+53A>G, NM_001136114.1:c.348+53A>G, NM_007171.3:c.752A>G, XM_005272156.1:c.752A>G, XM_005272157.1:c.609+53A>G, XM_005272158.1:c.590A>G, XM_005272159.1:c.401A>G, XM_005272160.1:c.34-211A>G, XM_005272161.1:c.-438+53A>G, XM_005272162.1:c.-648A>GBenign10/14/2020 
57POMT1Ex8NM_007171.3:c.765+1G>ALRG_842t1:c.765+1G>A, NM_001077365.1:c.699+67G>A, NM_001077366.1:c.537+67G>A, NM_001136113.1:c.699+67G>A, NM_001136114.1:c.348+67G>A, NM_007171.3:c.765+1G>A, XM_005272156.1:c.765+1G>A, XM_005272157.1:c.609+67G>A, XM_005272158.1:c.603+1G>A, XM_005272159.1:c.414+1G>A, XM_005272160.1:c.34-197G>A, XM_005272161.1:c.-438+67G>A, XM_005272162.1:c.-634G>APathogenic09/06/2017 
58POMT1Ex9NM_007171.3:c.766-48A>GBenign** 
59POMT1Ex9NM_007171.3:c.766-28A>GLRG_842t1:c.766-28A>G, NM_001077365.1:c.700-28A>G, NM_001077366.1:c.538-28A>G, NM_001136113.1:c.700-28A>G, NM_001136114.1:c.349-28A>G, NM_007171.3:c.766-28A>G, XM_005272156.1:c.766-28A>G, XM_005272157.1:c.610-28A>G, XM_005272158.1:c.604-28A>G, XM_005272159.1:c.415-28A>G, XM_005272160.1:c.34-28A>G, XM_005272161.1:c.-437-28A>G, XM_005272162.1:c.-465A>GLikely benign02/01/2017 
60POMT1Ex9NM_007171.3:c.790G>Ap.Ala264Thr | p.A264TLRG_842t1:c.790G>A, NM_001077365.1:c.724G>A, NM_001077366.1:c.562G>A, NM_001136113.1:c.724G>A, NM_001136114.1:c.373G>A, NM_007171.3:c.790G>A, XM_005272156.1:c.790G>A, XM_005272157.1:c.634G>A, XM_005272158.1:c.628G>A, XM_005272159.1:c.439G>A, XM_005272160.1:c.58G>A, XM_005272161.1:c.-413G>A, XM_005272162.1:c.-413G>AVOUS12/01/2016
61POMT1Ex9NM_007171.3:c.791C>Tp.Ala264Val | p.A264VLRG_842t1:c.791C>T, NM_001077365.1:c.725C>T, NM_001077366.1:c.563C>T, NM_001136113.1:c.725C>T, NM_001136114.1:c.374C>T, NM_007171.3:c.791C>T, XM_005272156.1:c.791C>T, XM_005272157.1:c.635C>T, XM_005272158.1:c.629C>T, XM_005272159.1:c.440C>T, XM_005272160.1:c.59C>T, XM_005272161.1:c.-412C>T, XM_005272162.1:c.-412C>TVOUS11/10/2016
62POMT1Ex9NM_007171.3:c.793C>Tp.Arg265* | p.R265XNM_001077365.1:c.727C>T, NM_001077366.1:c.565C>T, NM_001136113.1:c.727C>T, NM_001136114.1:c.376C>T, NM_007171.3:c.793C>TPathogenic08/02/2013 
63POMT1Ex9NM_007171.3:c.818C>Tp.Pro273Leu | p.P273LNM_001077365.1:c.752C>T, NM_001077366.1:c.590C>T, NM_001136113.1:c.752C>T, NM_001136114.1:c.401C>T, NM_007171.3:c.818C>TVOUS02/07/2013
64POMT1Ex9NM_007171.3:c.823G>Ap.Val275Ile | p.V275ILRG_842t1:c.823G>A, NM_001077365.1:c.757G>A, NM_001077366.1:c.595G>A, NM_001136113.1:c.757G>A, NM_001136114.1:c.406G>A, NM_007171.3:c.823G>A, XM_005272156.1:c.823G>A, XM_005272157.1:c.667G>A, XM_005272158.1:c.661G>A, XM_005272159.1:c.472G>A, XM_005272160.1:c.91G>A, XM_005272161.1:c.-380G>A, XM_005272162.1:c.-380G>AVOUS05/23/2017
65POMT1Ex9NM_007171.3:c.855G>Cp.Leu285Phe | p.L285FLRG_842t1:c.855G>C, NM_001077365.1:c.789G>C, NM_001077366.1:c.627G>C, NM_001136113.1:c.789G>C, NM_001136114.1:c.438G>C, NM_007171.3:c.855G>C, XM_005272156.1:c.855G>C, XM_005272157.1:c.699G>C, XM_005272158.1:c.693G>C, XM_005272159.1:c.504G>C, XM_005272160.1:c.123G>C, XM_005272161.1:c.-348G>C, XM_005272162.1:c.-348G>CVOUS01/02/2018
66POMT1Ex9NM_007171.3:c.869G>Ap.Arg290His | p.R290HLRG_842t1:c.869G>A, NM_001077365.1:c.803G>A, NM_001077366.1:c.641G>A, NM_001136113.1:c.803G>A, NM_001136114.1:c.452G>A, NM_007171.3:c.869G>A, XM_005272156.1:c.869G>A, XM_005272157.1:c.713G>A, XM_005272158.1:c.707G>A, XM_005272159.1:c.518G>A, XM_005272160.1:c.137G>A, XM_005272161.1:c.-334G>A, XM_005272162.1:c.-334G>AVOUS07/17/2017
67POMT1Ex9NM_007171.3:c.912C>Tp.Ala304= | p.A304=NM_001077365.1:c.846C>T, NM_001077366.1:c.684C>T, NM_001136113.1:c.846C>T, NM_001136114.1:c.495C>T, NM_007171.3:c.912C>T, XM_005272156.1:c.912C>T, XM_005272157.1:c.756C>T, XM_005272158.1:c.750C>T, XM_005272159.1:c.561C>T, XM_005272160.1:c.180C>T, XM_005272161.1:c.-291C>T, XM_005272162.1:c.-291C>TVOUS02/18/2016
68POMT1Ex9NM_007171.3:c.913A>Cp.Ser305Arg | p.S305RLRG_842t1:c.913A>C, NM_001077365.1:c.847A>C, NM_001077366.1:c.685A>C, NM_001136113.1:c.847A>C, NM_001136114.1:c.496A>C, NM_007171.3:c.913A>C, XM_005272156.1:c.913A>C, XM_005272157.1:c.757A>C, XM_005272158.1:c.751A>C, XM_005272159.1:c.562A>C, XM_005272160.1:c.181A>C, XM_005272161.1:c.-290A>C, XM_005272162.1:c.-290A>CVOUS03/17/2016
69POMT1Ex9NM_007171.3:c.921+6T>CLRG_842t1:c.921+6T>C, NM_001077365.1:c.855+6T>C, NM_001077366.1:c.693+6T>C, NM_001136113.1:c.855+6T>C, NM_001136114.1:c.504+6T>C, NM_007171.3:c.921+6T>C, XM_005272156.1:c.921+6T>C, XM_005272157.1:c.765+6T>C, XM_005272158.1:c.759+6T>C, XM_005272159.1:c.570+6T>C, XM_005272160.1:c.189+6T>C, XM_005272161.1:c.-282+6T>C, XM_005272162.1:c.-282+6T>CVOUS11/10/2017
70POMT1Ex9NM_007171.3:c.921+37G>AVOUS**
71POMT1Ex10NM_007171.3:c.922-49T>GBenign** 
72POMT1Ex10NM_007171.3:c.934C>Tp.Arg312Trp | p.R312WNM_001077365.1:c.868C>T, NM_001077366.1:c.706C>T, NM_001136113.1:c.868C>T, NM_001136114.1:c.517C>T, NM_007171.3:c.934C>T, XM_005272156.1:c.934C>T, XM_005272157.1:c.778C>T, XM_005272158.1:c.772C>T, XM_005272159.1:c.583C>T, XM_005272160.1:c.202C>T, XM_005272161.1:c.-269C>T, XM_005272162.1:c.-269C>TVOUS10/22/2015
73POMT1Ex10NM_007171.3:c.941C>Gp.Thr314Ser | p.T314SLRG_842t1:c.941C>G, NM_001077365.1:c.875C>G, NM_001077366.1:c.713C>G, NM_001136113.1:c.875C>G, NM_001136114.1:c.524C>G, NM_007171.3:c.941C>G, XM_005272156.1:c.941C>G, XM_005272157.1:c.785C>G, XM_005272158.1:c.779C>G, XM_005272159.1:c.590C>G, XM_005272160.1:c.209C>G, XM_005272161.1:c.-262C>G, XM_005272162.1:c.-262C>GVOUS09/14/2017
74POMT1Ex10NM_007171.3:c.942T>Cp.Thr314= | p.T314=NM_001077365.1:c.876T>C, NM_001077366.1:c.714T>C, NM_001136113.1:c.876T>C, NM_001136114.1:c.525T>C, NM_007171.3:c.942T>CBenign04/23/2013 
75POMT1Ex10NM_007171.3:c.957G>Ap.Leu319= | p.L319=NM_001077365.1:c.891G>A, NM_001077366.1:c.729G>A, NM_001136113.1:c.891G>A, NM_001136114.1:c.540G>A, NM_007171.3:c.957G>ABenign10/18/2013 
76POMT1Ex10NM_007171.3:c.979G>Ap.Val327Ile | p.V327IBenign11/02/2012 
77POMT1Ex10NM_007171.3:c.987G>Tp.Leu329= | p.L329=LRG_842t1:c.987G>T, NM_001077365.1:c.921G>T, NM_001077366.1:c.759G>T, NM_001136113.1:c.921G>T, NM_001136114.1:c.570G>T, NM_007171.3:c.987G>T, XM_005272156.1:c.987G>T, XM_005272157.1:c.831G>T, XM_005272158.1:c.825G>T, XM_005272159.1:c.636G>T, XM_005272160.1:c.255G>T, XM_005272161.1:c.-216G>T, XM_005272162.1:c.-216G>TVOUS09/14/2017
78POMT1Ex10NM_007171.3:c.994G>Ap.Val332Ile | p.V332ILRG_842t1:c.994G>A, NM_001077365.1:c.928G>A, NM_001077366.1:c.766G>A, NM_001136113.1:c.928G>A, NM_001136114.1:c.577G>A, NM_007171.3:c.994G>A, XM_005272156.1:c.994G>A, XM_005272157.1:c.838G>A, XM_005272158.1:c.832G>A, XM_005272159.1:c.643G>A, XM_005272160.1:c.262G>A, XM_005272161.1:c.-209G>A, XM_005272162.1:c.-209G>AVOUS10/10/2016
79POMT1Ex10NM_007171.3:c.1003A>Gp.Lys335Glu | p.K335ENM_001077365.1:c.937A>G, NM_001077366.1:c.775A>G, NM_001136113.1:c.937A>G, NM_001136114.1:c.586A>G, NM_007171.3:c.1003A>G, XM_005272156.1:c.1003A>G, XM_005272157.1:c.847A>G, XM_005272158.1:c.841A>G, XM_005272159.1:c.652A>G, XM_005272160.1:c.271A>G, XM_005272161.1:c.-200A>G, XM_005272162.1:c.-200A>GVOUS11/03/2015
80POMT1Ex10NM_007171.3:c.1036G>Ap.Asp346Asn | p.D346NNM_001077365.1:c.970G>A, NM_001077366.1:c.808G>A, NM_001136113.1:c.970G>A, NM_001136114.1:c.619G>A, NM_007171.3:c.1036G>A, XM_005272156.1:c.1036G>A, XM_005272157.1:c.880G>A, XM_005272158.1:c.874G>A, XM_005272159.1:c.685G>A, XM_005272160.1:c.304G>A, XM_005272161.1:c.-167G>A, XM_005272162.1:c.-167G>AVOUS08/28/2015
81POMT1Ex10NM_007171.3:c.1043A>Gp.Tyr348Cys | p.Y348CVOUS03/12/2013
82POMT1Ex10NM_007171.3:c.1052+9A>GLRG_842t1:c.1052+9A>G, NM_001077365.1:c.986+9A>G, NM_001077366.1:c.824+9A>G, NM_001136113.1:c.986+9A>G, NM_001136114.1:c.635+9A>G, NM_007171.3:c.1052+9A>G, XM_005272156.1:c.1052+9A>G, XM_005272157.1:c.896+9A>G, XM_005272158.1:c.890+9A>G, XM_005272159.1:c.701+9A>G, XM_005272160.1:c.320+9A>G, XM_005272161.1:c.-146+4A>G, XM_005272162.1:c.-146+4A>GLikely benign06/15/2017 
83POMT1Ex10NM_007171.3:c.1052+49G>ABenign** 
84POMT1Ex11NM_007171.3:c.1056T>Ap.Tyr352* | p.Y352XLRG_842t1:c.1056T>A, NM_001077365.1:c.990T>A, NM_001077366.1:c.828T>A, NM_001136113.1:c.990T>A, NM_001136114.1:c.639T>A, NM_007171.3:c.1056T>A, XM_005272156.1:c.1056T>A, XM_005272157.1:c.900T>A, XM_005272158.1:c.894T>A, XM_005272159.1:c.705T>A, XM_005272160.1:c.324T>A, XM_005272161.1:c.-142T>A, XM_005272162.1:c.-142T>APathogenic06/06/2017 
85POMT1Ex11NM_007171.3:c.1080C>Tp.His360= | p.H360=NM_001077365.1:c.1014C>T, NM_001077366.1:c.852C>T, NM_001136113.1:c.1014C>T, NM_001136114.1:c.663C>T, NM_007171.3:c.1080C>T, XM_005272156.1:c.1080C>T, XM_005272157.1:c.924C>T, XM_005272158.1:c.918C>T, XM_005272159.1:c.729C>T, XM_005272160.1:c.348C>T, XM_005272161.1:c.-118C>T, XM_005272162.1:c.-118C>TVOUS01/25/2016
86POMT1Ex11NM_007171.3:c.1081C>Tp.Gln361* | p.Q361XLRG_842t1:c.1081C>T, NM_001077365.1:c.1015C>T, NM_001077366.1:c.853C>T, NM_001136113.1:c.1015C>T, NM_001136114.1:c.664C>T, NM_007171.3:c.1081C>T, XM_005272156.1:c.1081C>T, XM_005272157.1:c.925C>T, XM_005272158.1:c.919C>T, XM_005272159.1:c.730C>T, XM_005272160.1:c.349C>T, XM_005272161.1:c.-117C>T, XM_005272162.1:c.-117C>TPathogenic08/09/2018 
87POMT1Ex11NM_007171.3:c.1113T>Cp.Asp371= | p.D371=LRG_842t1:c.1113T>C, NM_001077365.1:c.1047T>C, NM_001077366.1:c.885T>C, NM_001136113.1:c.1047T>C, NM_001136114.1:c.696T>C, NM_007171.3:c.1113T>C, XM_005272157.1:c.957T>C, XM_005272158.1:c.951T>C, XM_005272159.1:c.762T>CBenign02/11/2019 
88POMT1Ex11NM_007171.3:c.1148+16G>ALRG_842t1:c.1148+16G>A, NM_001077365.1:c.1082+16G>A, NM_001077366.1:c.920+16G>A, NM_001136113.1:c.1082+16G>A, NM_001136114.1:c.731+16G>A, NM_007171.3:c.1148+16G>A, XM_005272157.1:c.992+16G>A, XM_005272158.1:c.986+16G>A, XM_005272159.1:c.797+16G>ABenign02/11/2019 
89POMT1Ex12NM_007171.3:c.1149-9_1149-8delGTLRG_842t1:c.1149-9_1149-8delGT, NM_001077365.1:c.1083-9_1083-8delGT, NM_001077366.1:c.921-9_921-8delGT, NM_001136113.1:c.1083-9_1083-8delGT, NM_001136114.1:c.732-9_732-8delGT, NM_007171.3:c.1149-9_1149-8delGT, XM_005272156.1:c.1149-9_1149-8delGT, XM_005272157.1:c.993-9_993-8delGT, XM_005272158.1:c.987-9_987-8delGT, XM_005272159.1:c.798-9_798-8delGT, XM_005272160.1:c.417-9_417-8delGT, XM_005272161.1:c.-49-9_-49-8delGT, XM_005272162.1:c.-49-9_-49-8delGTVOUS07/31/2017
90POMT1Ex12NM_007171.3:c.1153C>Tp.Gln385* | p.Q385XNM_001077365.1:c.1087C>T, NM_001077366.1:c.925C>T, NM_001136113.1:c.1087C>T, NM_001136114.1:c.736C>T, NM_007171.3:c.1153C>T, XM_005272156.1:c.1153C>T, XM_005272157.1:c.997C>T, XM_005272158.1:c.991C>T, XM_005272159.1:c.802C>T, XM_005272160.1:c.421C>T, XM_005272161.1:c.-45C>T, XM_005272162.1:c.-45C>TPathogenic11/04/2014 
91POMT1Ex12NM_007171.3:c.1160T>Cp.Val387Ala | p.V387ALRG_842t1:c.1160T>C, NM_001077365.1:c.1094T>C, NM_001077366.1:c.932T>C, NM_001136113.1:c.1094T>C, NM_001136114.1:c.743T>C, NM_007171.3:c.1160T>C, XM_005272156.1:c.1160T>C, XM_005272157.1:c.1004T>C, XM_005272158.1:c.998T>C, XM_005272159.1:c.809T>C, XM_005272160.1:c.428T>C, XM_005272161.1:c.-38T>C, XM_005272162.1:c.-38T>CVOUS08/24/2018
92POMT1Ex12NM_007171.3:c.1183G>Cp.Val395Leu | p.V395LNM_001077365.1:c.1117G>C, NM_001077366.1:c.955G>C, NM_001136113.1:c.1117G>C, NM_001136114.1:c.766G>C, NM_007171.3:c.1183G>C, XM_005272156.1:c.1183G>C, XM_005272157.1:c.1027G>C, XM_005272158.1:c.1021G>C, XM_005272159.1:c.832G>C, XM_005272160.1:c.451G>C, XM_005272161.1:c.-15G>C, XM_005272162.1:c.-15G>CVOUS03/21/2017
93POMT1Ex12NM_007171.3:c.1192G>Ap.Gly398Arg | p.G398RNM_001077365.1:c.1126G>A, NM_001077366.1:c.964G>A, NM_001136113.1:c.1126G>A, NM_001136114.1:c.775G>A, NM_007171.3:c.1192G>A, XM_005272156.1:c.1192G>A, XM_005272157.1:c.1036G>A, XM_005272158.1:c.1030G>A, XM_005272159.1:c.841G>A, XM_005272160.1:c.460G>A, XM_005272161.1:c.-6G>A, XM_005272162.1:c.-6G>ABenign12/16/2015 
94POMT1Ex12NM_007171.3:c.1195G>Ap.Asp399Asn | p.D399NLRG_842t1:c.1195G>A, NM_001077365.1:c.1129G>A, NM_001077366.1:c.967G>A, NM_001136113.1:c.1129G>A, NM_001136114.1:c.778G>A, NM_007171.3:c.1195G>A, XM_005272156.1:c.1195G>A, XM_005272157.1:c.1039G>A, XM_005272158.1:c.1033G>A, XM_005272159.1:c.844G>A, XM_005272160.1:c.463G>A, XM_005272161.1:c.-3G>A, XM_005272162.1:c.-3G>AVOUS06/27/2016
95POMT1Ex12NM_007171.3:c.1215C>Tp.His405= | p.H405=NM_001077365.1:c.1149C>T, NM_001077366.1:c.987C>T, NM_001136113.1:c.1149C>T, NM_001136114.1:c.798C>T, NM_007171.3:c.1215C>T, XM_005272156.1:c.1215C>T, XM_005272157.1:c.1059C>T, XM_005272158.1:c.1053C>T, XM_005272159.1:c.864C>T, XM_005272160.1:c.483C>T, XM_005272161.1:c.18C>T, XM_005272162.1:c.18C>TVOUS06/29/2015
96POMT1Ex12NM_007171.3:c.1216G>Ap.Gly406Ser | p.G406SNM_001077365.1:c.1150G>A, NM_001077366.1:c.988G>A, NM_001136113.1:c.1150G>A, NM_001136114.1:c.799G>A, NM_007171.3:c.1216G>A, XM_005272156.1:c.1216G>A, XM_005272157.1:c.1060G>A, XM_005272158.1:c.1054G>A, XM_005272159.1:c.865G>A, XM_005272160.1:c.484G>A, XM_005272161.1:c.19G>A, XM_005272162.1:c.19G>AVOUS02/27/2018
97POMT1Ex12NM_007171.3:c.1228C>Tp.Arg410Cys | p.R410CLRG_842t1:c.1228C>T, NM_001077365.1:c.1162C>T, NM_001077366.1:c.1000C>T, NM_001136113.1:c.1162C>T, NM_001136114.1:c.811C>T, NM_007171.3:c.1228C>T, XM_005272156.1:c.1228C>T, XM_005272157.1:c.1072C>T, XM_005272158.1:c.1066C>T, XM_005272159.1:c.877C>T, XM_005272160.1:c.496C>T, XM_005272161.1:c.31C>T, XM_005272162.1:c.31C>TVOUS03/23/2017
98POMT1Ex12NM_007171.3:c.1229G>Ap.Arg410His | p.R410HLRG_842t1:c.1229G>A, NM_001077365.1:c.1163G>A, NM_001077366.1:c.1001G>A, NM_001136113.1:c.1163G>A, NM_001136114.1:c.812G>A, NM_007171.3:c.1229G>A, XM_005272156.1:c.1229G>A, XM_005272157.1:c.1073G>A, XM_005272158.1:c.1067G>A, XM_005272159.1:c.878G>A, XM_005272160.1:c.497G>A, XM_005272161.1:c.32G>A, XM_005272162.1:c.32G>AVOUS07/17/2017
99POMT1Ex13NM_007171.3:c.1260C>Gp.Pro420= | p.P420=LRG_842t1:c.1260C>G, NM_001077365.1:c.1194C>G, NM_001077366.1:c.1032C>G, NM_001136113.1:c.1194C>G, NM_001136114.1:c.843C>G, NM_007171.3:c.1260C>G, XM_005272156.1:c.1260C>G, XM_005272157.1:c.1104C>G, XM_005272158.1:c.1098C>G, XM_005272159.1:c.909C>G, XM_005272160.1:c.528C>G, XM_005272161.1:c.63C>G, XM_005272162.1:c.63C>GVOUS09/17/2016
100POMT1Ex13NM_007171.3:c.1260C>Ap.Pro420= | p.P420=LRG_842t1:c.1260C>A, NM_001077365.1:c.1194C>A, NM_001077366.1:c.1032C>A, NM_001136113.1:c.1194C>A, NM_001136114.1:c.843C>A, NM_007171.3:c.1260C>A, XM_005272156.1:c.1260C>A, XM_005272157.1:c.1104C>A, XM_005272158.1:c.1098C>A, XM_005272159.1:c.909C>A, XM_005272160.1:c.528C>A, XM_005272161.1:c.63C>A, XM_005272162.1:c.63C>AVOUS08/17/2018
101POMT1Ex13NM_007171.3:c.1261_1262delCTp.Leu421Glufs*12 | p.L421EfsX12LRG_842t1:c.1261_1262delCT, NM_001077365.1:c.1195_1196delCT, NM_001077366.1:c.1033_1034delCT, NM_001136113.1:c.1195_1196delCT, NM_001136114.1:c.844_845delCT, NM_007171.3:c.1261_1262delCT, XM_005272156.1:c.1261_1262delCT, XM_005272157.1:c.1105_1106delCT, XM_005272158.1:c.1099_1100delCT, XM_005272159.1:c.910_911delCT, XM_005272160.1:c.529_530delCT, XM_005272161.1:c.64_65delCT, XM_005272162.1:c.64_65delCTPathogenic10/12/2017 
102POMT1Ex13NM_007171.3:c.1265G>Cp.Ser422Thr | p.S422TLRG_842t1:c.1265G>C, NM_001077365.1:c.1199G>C, NM_001077366.1:c.1037G>C, NM_001136113.1:c.1199G>C, NM_001136114.1:c.848G>C, NM_007171.3:c.1265G>C, XM_005272156.1:c.1265G>C, XM_005272157.1:c.1109G>C, XM_005272158.1:c.1103G>C, XM_005272159.1:c.914G>C, XM_005272160.1:c.533G>C, XM_005272161.1:c.68G>C, XM_005272162.1:c.68G>CVOUS12/22/2016
103POMT1Ex13NM_007171.3:c.1266C>Tp.Ser422= | p.S422=LRG_842t1:c.1266C>T, NM_001077365.1:c.1200C>T, NM_001077366.1:c.1038C>T, NM_001136113.1:c.1200C>T, NM_001136114.1:c.849C>T, NM_007171.3:c.1266C>T, XM_005272156.1:c.1266C>T, XM_005272157.1:c.1110C>T, XM_005272158.1:c.1104C>T, XM_005272159.1:c.915C>T, XM_005272160.1:c.534C>T, XM_005272161.1:c.69C>T, XM_005272162.1:c.69C>TVOUS08/05/2016
104POMT1Ex13NM_007171.3:c.1280_1281delAGinsTCE427V, NM_001077365.1:c.1214_1215delinsTC, NM_001077366.1:c.1052_1053delinsTC, NM_001136113.1:c.1214_1215delinsTC, NM_001136114.1:c.863_864delinsTC, NM_007171.3:c.1280_1281delinsTC, XM_005272156.1:c.1280_1281delinsTC, XM_005272157.1:c.1124_1125delinsTC, XM_005272158.1:c.1118_1119delinsTC, XM_005272159.1:c.929_930delinsTC, XM_005272160.1:c.548_549delinsTC, XM_005272161.1:c.83_84delinsTC, XM_005272162.1:c.83_84delinsTCLikely pathogenic11/04/2014 
105POMT1Ex13NM_007171.3:c.1281G>Cp.Glu427Asp | p.E427DVOUS**
106POMT1Ex13NM_007171.3:c.1299C>Ap.Asp433Glu | p.D433EBenign04/23/2013 
107POMT1Ex13NM_007171.3:c.1318G>Ap.Ala440Thr | p.A440TLRG_842t1:c.1318G>A, NM_001077365.1:c.1252G>A, NM_001077366.1:c.1090G>A, NM_001136113.1:c.1252G>A, NM_001136114.1:c.901G>A, NM_007171.3:c.1318G>A, XM_005272157.1:c.1162G>A, XM_005272158.1:c.1156G>A, XM_005272159.1:c.967G>AVOUS05/03/2017
108POMT1Ex13NM_007171.3:c.1319C>Tp.Ala440Val | p.A440VNM_001077365.1:c.1253C>T, NM_001077366.1:c.1091C>T, NM_001136113.1:c.1253C>T, NM_001136114.1:c.902C>T, NM_007171.3:c.1319C>T, XM_005272156.1:c.1319C>T, XM_005272157.1:c.1163C>T, XM_005272158.1:c.1157C>T, XM_005272159.1:c.968C>T, XM_005272160.1:c.587C>T, XM_005272161.1:c.122C>T, XM_005272162.1:c.122C>TVOUS12/21/2015
109POMT1Ex14NM_007171.3:c.1369G>Ap.Val457Ile | p.V457INM_001077365.1:c.1303G>A, NM_001077366.1:c.1141G>A, NM_001136113.1:c.1303G>A, NM_001136114.1:c.952G>A, NM_007171.3:c.1369G>A, XM_005272156.1:c.1369G>A, XM_005272157.1:c.1213G>A, XM_005272158.1:c.1207G>A, XM_005272159.1:c.1018G>A, XM_005272160.1:c.637G>A, XM_005272161.1:c.172G>A, XM_005272162.1:c.172G>AVOUS07/14/2015
110POMT1Ex14NM_007171.3:c.1396C>Tp.Arg466Cys | p.R466CLRG_842t1:c.1396C>T, NM_001077365.1:c.1330C>T, NM_001077366.1:c.1168C>T, NM_001136113.1:c.1330C>T, NM_001136114.1:c.979C>T, NM_007171.3:c.1396C>T, XM_005272156.1:c.1396C>T, XM_005272157.1:c.1240C>T, XM_005272158.1:c.1234C>T, XM_005272159.1:c.1045C>T, XM_005272160.1:c.664C>T, XM_005272161.1:c.199C>T, XM_005272162.1:c.199C>TVOUS05/02/2018
111POMT1Ex14NM_007171.3:c.1431+15C>TVOUS11/05/2012
112POMT1Ex15NM_007171.3:c.1447C>Tp.Leu483Phe | p.L483FLRG_842t1:c.1447C>T, NM_001077365.1:c.1381C>T, NM_001077366.1:c.1219C>T, NM_001135954.1:c.*6321G>A, NM_001136113.1:c.1381C>T, NM_001136114.1:c.1030C>T, NM_001261450.1:c.*6188G>A, NM_001261451.1:c.*6188G>A, NM_007171.3:c.1447C>T, NM_031432.2:c.*6188G>A, XM_005272156.1:c.1447C>T, XM_005272157.1:c.1291C>T, XM_005272158.1:c.1285C>T, XM_005272159.1:c.1096C>T, XM_005272160.1:c.715C>T, XM_005272161.1:c.250C>T, XM_005272162.1:c.250C>T, XM_005272224.1:c.*6188G>A, XM_005272225.1:c.*6188G>A, XR_246603.1:n.*4953G>AVOUS06/08/2018
113POMT1Ex15NM_007171.3:c.1482C>Tp.Val494= | p.V494=Benign02/07/2013 
114POMT1Ex15NM_007171.3:c.1509C>Tp.His503= | p.H503=LRG_842t1:c.1509C>T, NM_001077365.1:c.1443C>T, NM_001077366.1:c.1281C>T, NM_001135954.1:c.*6259G>A, NM_001136113.1:c.1443C>T, NM_001136114.1:c.1092C>T, NM_001261450.1:c.*6126G>A, NM_001261451.1:c.*6126G>A, NM_007171.3:c.1509C>T, NM_031432.2:c.*6126G>A, XM_005272156.1:c.1509C>T, XM_005272157.1:c.1353C>T, XM_005272158.1:c.1347C>T, XM_005272159.1:c.1158C>T, XM_005272160.1:c.777C>T, XM_005272161.1:c.312C>T, XM_005272162.1:c.312C>T, XM_005272224.1:c.*6126G>A, XM_005272225.1:c.*6126G>A, XR_246603.1:n.*4891G>AVOUS12/28/2017
115POMT1Ex15NM_007171.3:c.1517C>Tp.Thr506Met | p.T506MLRG_842t1:c.1517C>T, NM_001077365.1:c.1451C>T, NM_001077366.1:c.1289C>T, NM_001135954.1:c.*6251G>A, NM_001136113.1:c.1451C>T, NM_001136114.1:c.1100C>T, NM_001261450.1:c.*6118G>A, NM_001261451.1:c.*6118G>A, NM_007171.3:c.1517C>T, NM_031432.2:c.*6118G>A, XM_005272156.1:c.1517C>T, XM_005272157.1:c.1361C>T, XM_005272158.1:c.1355C>T, XM_005272159.1:c.1166C>T, XM_005272160.1:c.785C>T, XM_005272161.1:c.320C>T, XM_005272162.1:c.320C>T, XM_005272224.1:c.*6118G>A, XM_005272225.1:c.*6118G>A, XR_246603.1:n.*4883G>AVOUS05/15/2018
116POMT1Ex15NM_007171.3:c.1528G>Ap.Val510Met | p.V510MLRG_842t1:c.1528G>A, NM_001077365.1:c.1462G>A, NM_001077366.1:c.1300G>A, NM_001135954.1:c.*6240C>T, NM_001136113.1:c.1462G>A, NM_001136114.1:c.1111G>A, NM_001261450.1:c.*6107C>T, NM_001261451.1:c.*6107C>T, NM_007171.3:c.1528G>A, NM_031432.2:c.*6107C>T, XM_005272156.1:c.1528G>A, XM_005272157.1:c.1372G>A, XM_005272158.1:c.1366G>A, XM_005272159.1:c.1177G>A, XM_005272160.1:c.796G>A, XM_005272161.1:c.331G>A, XM_005272162.1:c.331G>A, XM_005272224.1:c.*6107C>T, XM_005272225.1:c.*6107C>T, XR_246603.1:n.*4872C>TVOUS10/28/2016
117POMT1Ex15NM_007171.3:c.1540C>Tp.Arg514* | p.R514XPathogenic03/20/2014 
118POMT1Ex15NM_007171.3:c.1549G>Ap.Ala517Thr | p.A517TLRG_842t1:c.1549G>A, NM_001077365.1:c.1483G>A, NM_001077366.1:c.1321G>A, NM_001135954.1:c.*6219C>T, NM_001136113.1:c.1483G>A, NM_001136114.1:c.1132G>A, NM_001261450.1:c.*6086C>T, NM_001261451.1:c.*6086C>T, NM_007171.3:c.1549G>A, NM_031432.2:c.*6086C>T, XM_005272156.1:c.1549G>A, XM_005272157.1:c.1393G>A, XM_005272158.1:c.1387G>A, XM_005272159.1:c.1198G>A, XM_005272160.1:c.817G>A, XM_005272161.1:c.352G>A, XM_005272162.1:c.352G>A, XM_005272224.1:c.*6086C>T, XM_005272225.1:c.*6086C>T, XR_246603.1:n.*4851C>TVOUS02/08/2019
119POMT1Ex15NM_007171.3:c.1552+9G>ALRG_842t1:c.1552+9G>A, NM_001077365.1:c.1486+9G>A, NM_001077366.1:c.1324+9G>A, NM_001135954.1:c.*6207C>T, NM_001136113.1:c.1486+9G>A, NM_001136114.1:c.1135+9G>A, NM_001261450.1:c.*6074C>T, NM_001261451.1:c.*6074C>T, NM_007171.3:c.1552+9G>A, NM_031432.2:c.*6074C>T, XM_005272156.1:c.1552+9G>A, XM_005272157.1:c.1396+9G>A, XM_005272158.1:c.1390+9G>A, XM_005272159.1:c.1201+9G>A, XM_005272160.1:c.820+9G>A, XM_005272161.1:c.355+9G>A, XM_005272162.1:c.355+9G>A, XM_005272224.1:c.*6074C>T, XM_005272225.1:c.*6074C>T, XR_246603.1:n.*4839C>TVOUS03/30/2017
120POMT1Ex15NM_007171.3:c.1552+10C>TLRG_842t1:c.1552+10C>T, NM_001077365.1:c.1486+10C>T, NM_001077366.1:c.1324+10C>T, NM_001135954.1:c.*6206G>A, NM_001136113.1:c.1486+10C>T, NM_001136114.1:c.1135+10C>T, NM_001261450.1:c.*6073G>A, NM_001261451.1:c.*6073G>A, NM_007171.3:c.1552+10C>T, NM_031432.2:c.*6073G>A, XM_005272156.1:c.1552+10C>T, XM_005272157.1:c.1396+10C>T, XM_005272158.1:c.1390+10C>T, XM_005272159.1:c.1201+10C>T, XM_005272160.1:c.820+10C>T, XM_005272161.1:c.355+10C>T, XM_005272162.1:c.355+10C>T, XM_005272224.1:c.*6073G>A, XM_005272225.1:c.*6073G>A, XR_246603.1:n.*4838G>AVOUS09/06/2016
121POMT1Ex15NM_007171.3:c.1552+14G>AVOUS10/14/2020
122POMT1Ex16NM_007171.3:c.1553-5G>TLRG_842t1:c.1553-5G>T, NM_001077365.1:c.1487-5G>T, NM_001077366.1:c.1325-5G>T, NM_001135954.1:c.*5789C>A, NM_001136113.1:c.1487-5G>T, NM_001136114.1:c.1136-5G>T, NM_001261450.1:c.*5656C>A, NM_001261451.1:c.*5656C>A, NM_007171.3:c.1553-5G>T, NM_031432.2:c.*5656C>A, XM_005272156.1:c.1553-5G>T, XM_005272157.1:c.1397-5G>T, XM_005272158.1:c.1391-5G>T, XM_005272159.1:c.1202-5G>T, XM_005272160.1:c.821-5G>T, XM_005272161.1:c.356-5G>T, XM_005272162.1:c.356-5G>T, XM_005272224.1:c.*5656C>A, XM_005272225.1:c.*5656C>A, XR_246603.1:n.*4421C>AVOUS12/20/2018
123POMT1Ex16NM_007171.3:c.1554C>Tp.Ser518= | p.S518=NM_001077365.1:c.1488C>T, NM_001077366.1:c.1326C>T, NM_001135954.1:c.*5783G>A, NM_001136113.1:c.1488C>T, NM_001136114.1:c.1137C>T, NM_001261450.1:c.*5650G>A, NM_001261451.1:c.*5650G>A, NM_007171.3:c.1554C>T, NM_031432.2:c.*5650G>AVOUS12/17/2013
124POMT1Ex16NM_007171.3:c.1565G>Ap.Arg522Lys | p.R522KNM_001077365.1:c.1499G>A, NM_001077366.1:c.1337G>A, NM_001135954.1:c.*5772C>T, NM_001136113.1:c.1499G>A, NM_001136114.1:c.1148G>A, NM_001261450.1:c.*5639C>T, NM_001261451.1:c.*5639C>T, NM_007171.3:c.1565G>A, NM_031432.2:c.*5639C>T, XM_005272157.1:c.1409G>A, XM_005272158.1:c.1403G>A, XM_005272159.1:c.1214G>ALikely benign11/04/2015 
125POMT1Ex16NM_007171.3:c.1569_1574dupGCGGGALRG_842t1:c.1574_1575insGCGGGA, NM_001077365.1:c.1508_1509insGCGGGA, NM_001077366.1:c.1346_1347insGCGGGA, NM_001135954.1:c.*5762_*5763insTCCCGC, NM_001136113.1:c.1508_1509insGCGGGA, NM_001136114.1:c.1157_1158insGCGGGA, NM_001261450.1:c.*5629_*5630insTCCCGC, NM_001261451.1:c.*5629_*5630insTCCCGC, NM_007171.3:c.1574_1575insGCGGGA, NM_031432.2:c.*5629_*5630insTCCCGC, XM_005272156.1:c.1574_1575insGCGGGA, XM_005272157.1:c.1418_1419insGCGGGA, XM_005272158.1:c.1412_1413insGCGGGA, XM_005272159.1:c.1223_1224insGCGGGA, XM_005272160.1:c.842_843insGCGGGA, XM_005272161.1:c.377_378insGCGGGA, XM_005272162.1:c.377_378insGCGGGA, XM_005272224.1:c.*5629_*5630insTCCCGC, XM_005272225.1:c.*5629_*5630insTCCCGC, XR_246603.1:n.*4394_*4395insTCCCGCVOUS02/02/2017
126POMT1Ex16NM_007171.3:c.1577G>Ap.Arg526Gln | p.R526QLRG_842t1:c.1577G>A, NM_001077365.1:c.1511G>A, NM_001077366.1:c.1349G>A, NM_001135954.1:c.*5760C>T, NM_001136113.1:c.1511G>A, NM_001136114.1:c.1160G>A, NM_001261450.1:c.*5627C>T, NM_001261451.1:c.*5627C>T, NM_007171.3:c.1577G>A, NM_031432.2:c.*5627C>T, XM_005272156.1:c.1577G>A, XM_005272157.1:c.1421G>A, XM_005272158.1:c.1415G>A, XM_005272159.1:c.1226G>A, XM_005272160.1:c.845G>A, XM_005272161.1:c.380G>A, XM_005272162.1:c.380G>A, XM_005272224.1:c.*5627C>T, XM_005272225.1:c.*5627C>T, XR_246603.1:n.*4392C>TVOUS11/02/2016
127POMT1Ex16NM_007171.3:c.1591C>Gp.Pro531Ala | p.P531ALRG_842t1:c.1591C>G, NM_001077365.1:c.1525C>G, NM_001077366.1:c.1363C>G, NM_001135954.1:c.*5746G>C, NM_001136113.1:c.1525C>G, NM_001136114.1:c.1174C>G, NM_001261450.1:c.*5613G>C, NM_001261451.1:c.*5613G>C, NM_007171.3:c.1591C>G, NM_031432.2:c.*5613G>C, XM_005272156.1:c.1591C>G, XM_005272157.1:c.1435C>G, XM_005272158.1:c.1429C>G, XM_005272159.1:c.1240C>G, XM_005272160.1:c.859C>G, XM_005272161.1:c.394C>G, XM_005272162.1:c.394C>G, XM_005272224.1:c.*5613G>C, XM_005272225.1:c.*5613G>C, XR_246603.1:n.*4378G>CVOUS05/18/2016
128POMT1Ex16NM_007171.3:c.1595C>Tp.Ala532Val | p.A532VNM_001077365.1:c.1529C>T, NM_001077366.1:c.1367C>T, NM_001135954.1:c.*5742G>A, NM_001136113.1:c.1529C>T, NM_001136114.1:c.1178C>T, NM_001261450.1:c.*5609G>A, NM_001261451.1:c.*5609G>A, NM_007171.3:c.1595C>T, NM_031432.2:c.*5609G>A, XM_005272156.1:c.1595C>T, XM_005272157.1:c.1439C>T, XM_005272158.1:c.1433C>T, XM_005272159.1:c.1244C>T, XM_005272160.1:c.863C>T, XM_005272161.1:c.398C>T, XM_005272162.1:c.398C>T, XM_005272224.1:c.*5609G>A, XM_005272225.1:c.*5609G>A, XR_246603.1:n.*4374G>AVOUS11/30/2018
129POMT1Ex16NM_007171.3:c.1611C>Gp.Ser537Arg | p.S537RNM_001077365.1:c.1545C>G, NM_001077366.1:c.1383C>G, NM_001135954.1:c.*5726G>C, NM_001136113.1:c.1545C>G, NM_001136114.1:c.1194C>G, NM_001261450.1:c.*5593G>C, NM_001261451.1:c.*5593G>C, NM_007171.3:c.1611C>G, NM_031432.2:c.*5593G>C, XM_005272156.1:c.1611C>G, XM_005272157.1:c.1455C>G, XM_005272158.1:c.1449C>G, XM_005272159.1:c.1260C>G, XM_005272160.1:c.879C>G, XM_005272161.1:c.414C>G, XM_005272162.1:c.414C>G, XM_005272224.1:c.*5593G>C, XM_005272225.1:c.*5593G>C, XR_246603.1:n.*4358G>CLikely benign09/17/2015 
130POMT1Ex16NM_007171.3:c.1637T>Gp.Phe546Cys | p.F546CLRG_842t1:c.1637T>G, NM_001077365.1:c.1571T>G, NM_001077366.1:c.1409T>G, NM_001135954.1:c.*5700A>C, NM_001136113.1:c.1571T>G, NM_001136114.1:c.1220T>G, NM_001261450.1:c.*5567A>C, NM_001261451.1:c.*5567A>C, NM_007171.3:c.1637T>G, NM_031432.2:c.*5567A>C, XM_005272156.1:c.1637T>G, XM_005272157.1:c.1481T>G, XM_005272158.1:c.1475T>G, XM_005272159.1:c.1286T>G, XM_005272160.1:c.905T>G, XM_005272161.1:c.440T>G, XM_005272162.1:c.440T>G, XM_005272224.1:c.*5567A>C, XM_005272225.1:c.*5567A>C, XR_246603.1:n.*4332A>CVOUS03/28/2017
131POMT1Ex17NM_007171.3:c.1651-47G>TVOUS**
132POMT1Ex17NM_007171.3:c.1651-14C>TNM_001077365.1:c.1585-14C>T, NM_001077366.1:c.1423-14C>T, NM_001135954.1:c.*5107G>A, NM_001136113.1:c.1585-14C>T, NM_001136114.1:c.1234-14C>T, NM_001261450.1:c.*4974G>A, NM_001261451.1:c.*4974G>A, NM_007171.3:c.1651-14C>T, NM_031432.2:c.*4974G>ABenign01/27/2014 
133POMT1Ex17NM_007171.3:c.1664C>Tp.Ala555Val | p.A555VLRG_842t1:c.1664C>T, NM_001077365.1:c.1598C>T, NM_001077366.1:c.1436C>T, NM_001135954.1:c.*5080G>A, NM_001136113.1:c.1598C>T, NM_001136114.1:c.1247C>T, NM_001261450.1:c.*4947G>A, NM_001261451.1:c.*4947G>A, NM_007171.3:c.1664C>T, NM_031432.2:c.*4947G>A, XM_005272156.1:c.1664C>T, XM_005272157.1:c.1508C>T, XM_005272158.1:c.1502C>T, XM_005272159.1:c.1313C>T, XM_005272160.1:c.918+607C>T, XM_005272161.1:c.467C>T, XM_005272162.1:c.467C>T, XM_005272224.1:c.*4947G>A, XM_005272225.1:c.*4947G>A, XR_246603.1:n.*3712G>AVOUS10/29/2016
134POMT1Ex17NM_007171.3:c.1693T>Cp.Tyr565His | p.Y565HLRG_842t1:c.1693T>C, NM_001077365.1:c.1627T>C, NM_001077366.1:c.1465T>C, NM_001135954.1:c.*5051A>G, NM_001136113.1:c.1627T>C, NM_001136114.1:c.1276T>C, NM_001261450.1:c.*4918A>G, NM_001261451.1:c.*4918A>G, NM_007171.3:c.1693T>C, NM_031432.2:c.*4918A>G, XM_005272156.1:c.1693T>C, XM_005272157.1:c.1537T>C, XM_005272158.1:c.1531T>C, XM_005272159.1:c.1342T>C, XM_005272160.1:c.918+636T>C, XM_005272161.1:c.496T>C, XM_005272162.1:c.496T>C, XM_005272224.1:c.*4918A>G, XM_005272225.1:c.*4918A>G, XR_246603.1:n.*3683A>GVOUS02/16/2018
135POMT1Ex17NM_007171.3:c.1713G>Ap.Glu571= | p.E571=LRG_842t1:c.1713G>A, NM_001077365.1:c.1647G>A, NM_001077366.1:c.1485G>A, NM_001135954.1:c.*5031C>T, NM_001136113.1:c.1647G>A, NM_001136114.1:c.1296G>A, NM_001261450.1:c.*4898C>T, NM_001261451.1:c.*4898C>T, NM_007171.3:c.1713G>A, NM_031432.2:c.*4898C>T, XM_005272156.1:c.1713G>A, XM_005272157.1:c.1557G>A, XM_005272158.1:c.1551G>A, XM_005272159.1:c.1362G>A, XM_005272160.1:c.918+656G>A, XM_005272161.1:c.516G>A, XM_005272162.1:c.516G>A, XM_005272224.1:c.*4898C>T, XM_005272225.1:c.*4898C>T, XR_246603.1:n.*3663C>TVOUS08/23/2016
136POMT1Ex17NM_007171.3:c.1723delCNM_001077365.1:c.1657delC, NM_001077366.1:c.1495delC, NM_001135954.1:c.*5021delG, NM_001136113.1:c.1657delC, NM_001136114.1:c.1306delC, NM_001261450.1:c.*4888delG, NM_001261451.1:c.*4888delG, NM_007171.3:c.1723delC, NM_031432.2:c.*4888delG, XM_005272156.1:c.1723delC, XM_005272157.1:c.1567delC, XM_005272158.1:c.1561delC, XM_005272159.1:c.1372delC, XM_005272160.1:c.918+666delC, XM_005272161.1:c.526delC, XM_005272162.1:c.526delC, XM_005272224.1:c.*4888delG, XM_005272225.1:c.*4888delG, XR_246603.1:n.*3653delGPathogenic05/05/2015 
137POMT1Ex17NM_007171.3:c.1737T>Cp.Ile579= | p.I579=LRG_842t1:c.1737T>C, NM_001077365.1:c.1671T>C, NM_001077366.1:c.1509T>C, NM_001135954.1:c.*5007A>G, NM_001136113.1:c.1671T>C, NM_001136114.1:c.1320T>C, NM_001261450.1:c.*4874A>G, NM_001261451.1:c.*4874A>G, NM_007171.3:c.1737T>C, NM_031432.2:c.*4874A>G, XM_005272156.1:c.1737T>C, XM_005272157.1:c.1581T>C, XM_005272158.1:c.1575T>C, XM_005272159.1:c.1386T>C, XM_005272160.1:c.918+680T>C, XM_005272161.1:c.540T>C, XM_005272162.1:c.540T>C, XM_005272224.1:c.*4874A>G, XM_005272225.1:c.*4874A>G, XR_246603.1:n.*3639A>GVOUS09/27/2016
138POMT1Ex17NM_007171.3:c.1758G>Ap.Arg586= | p.R586=Benign** 
139POMT1Ex17NM_007171.3:c.1764C>Tp.Ser588= | p.S588=NM_001077365.1:c.1698C>T, NM_001077366.1:c.1536C>T, NM_001135954.1:c.*4980G>A, NM_001136113.1:c.1698C>T, NM_001136114.1:c.1347C>T, NM_001261450.1:c.*4847G>A, NM_001261451.1:c.*4847G>A, NM_007171.3:c.1764C>T, NM_031432.2:c.*4847G>ABenign01/27/2014 
140POMT1Ex17NM_007171.3:c.1764+3A>GNM_001077365.1:c.1698+3A>G, NM_001077366.1:c.1536+3A>G, NM_001135954.1:c.*4977T>C, NM_001136113.1:c.1698+3A>G, NM_001136114.1:c.1347+3A>G, NM_001261450.1:c.*4844T>C, NM_001261451.1:c.*4844T>C, NM_007171.3:c.1764+3A>G, NM_031432.2:c.*4844T>C, XM_005272156.1:c.1764+3A>G, XM_005272157.1:c.1608+3A>G, XM_005272158.1:c.1602+3A>G, XM_005272159.1:c.1413+3A>G, XM_005272160.1:c.918+710A>G, XM_005272161.1:c.567+3A>G, XM_005272162.1:c.567+3A>G, XM_005272224.1:c.*4844T>C, XM_005272225.1:c.*4844T>C, XR_246603.1:n.*3609T>CVOUS01/23/2015
141POMT1Ex17NM_007171.3:c.1764+6C>TLRG_842t1:c.1764+6C>T, NM_001077365.1:c.1698+6C>T, NM_001077366.1:c.1536+6C>T, NM_001135954.1:c.*4974G>A, NM_001136113.1:c.1698+6C>T, NM_001136114.1:c.1347+6C>T, NM_001261450.1:c.*4841G>A, NM_001261451.1:c.*4841G>A, NM_007171.3:c.1764+6C>T, NM_031432.2:c.*4841G>A, XM_005272156.1:c.1764+6C>T, XM_005272157.1:c.1608+6C>T, XM_005272158.1:c.1602+6C>T, XM_005272159.1:c.1413+6C>T, XM_005272160.1:c.918+713C>T, XM_005272161.1:c.567+6C>T, XM_005272162.1:c.567+6C>T, XM_005272224.1:c.*4841G>A, XM_005272225.1:c.*4841G>A, XR_246603.1:n.*3606G>AVOUS07/11/2016
142POMT1Ex17NM_007171.3:c.1764+10C>ALRG_842t1:c.1764+10C>A, NM_001077365.1:c.1698+10C>A, NM_001077366.1:c.1536+10C>A, NM_001135954.1:c.*4970G>T, NM_001136113.1:c.1698+10C>A, NM_001136114.1:c.1347+10C>A, NM_001261450.1:c.*4837G>T, NM_001261451.1:c.*4837G>T, NM_007171.3:c.1764+10C>A, NM_031432.2:c.*4837G>T, XM_005272156.1:c.1764+10C>A, XM_005272157.1:c.1608+10C>A, XM_005272158.1:c.1602+10C>A, XM_005272159.1:c.1413+10C>A, XM_005272160.1:c.918+717C>A, XM_005272161.1:c.567+10C>A, XM_005272162.1:c.567+10C>A, XM_005272224.1:c.*4837G>T, XM_005272225.1:c.*4837G>T, XR_246603.1:n.*3602G>TVOUS05/18/2018
143POMT1Ex17NM_007171.3:c.1764+48C>GBenign** 
144POMT1Ex18NM_007171.3:c.1765-7C>GLRG_842t1:c.1765-7C>G, NM_001077365.1:c.1699-7C>G, NM_001077366.1:c.1537-7C>G, NM_001135954.1:c.*3834G>C, NM_001136113.1:c.1699-7C>G, NM_001136114.1:c.1348-7C>G, NM_001261450.1:c.*3701G>C, NM_001261451.1:c.*3701G>C, NM_007171.3:c.1765-7C>G, NM_031432.2:c.*3701G>C, XM_005272156.1:c.1765-7C>G, XM_005272157.1:c.1609-7C>G, XM_005272158.1:c.1603-7C>G, XM_005272159.1:c.1414-7C>G, XM_005272160.1:c.919-7C>G, XM_005272161.1:c.568-7C>G, XM_005272162.1:c.568-7C>G, XM_005272224.1:c.*3701G>C, XM_005272225.1:c.*3701G>C, XR_246602.1:n.*3866G>C, XR_246603.1:n.*2466G>CVOUS08/22/2016
145POMT1Ex18NM_007171.3:c.1770G>Cp.Gln590His | p.Q590HLRG_842t1:c.1770G>C, NM_001077365.1:c.1704G>C, NM_001077366.1:c.1542G>C, NM_001135954.1:c.*3822C>G, NM_001136113.1:c.1704G>C, NM_001136114.1:c.1353G>C, NM_001261450.1:c.*3689C>G, NM_001261451.1:c.*3689C>G, NM_007171.3:c.1770G>C, NM_031432.2:c.*3689C>G, XM_005272157.1:c.1614G>C, XM_005272158.1:c.1608G>C, XM_005272159.1:c.1419G>CPathogenic10/25/2013 
146POMT1Ex18NM_007171.3:c.1793T>Cp.Val598Ala | p.V598ALRG_842t1:c.1793T>C, NM_001077365.1:c.1727T>C, NM_001077366.1:c.1565T>C, NM_001135954.1:c.*3799A>G, NM_001136113.1:c.1727T>C, NM_001136114.1:c.1376T>C, NM_001261450.1:c.*3666A>G, NM_001261451.1:c.*3666A>G, NM_007171.3:c.1793T>C, NM_031432.2:c.*3666A>G, XM_005272156.1:c.1793T>C, XM_005272157.1:c.1637T>C, XM_005272158.1:c.1631T>C, XM_005272159.1:c.1442T>C, XM_005272160.1:c.947T>C, XM_005272161.1:c.596T>C, XM_005272162.1:c.596T>C, XM_005272224.1:c.*3666A>G, XM_005272225.1:c.*3666A>G, XR_246602.1:n.*3831A>G, XR_246603.1:n.*2431A>GVOUS03/23/2016
147POMT1Ex18NM_007171.3:c.1806G>Ap.Ser602= | p.S602=LRG_842t1:c.1806G>A, NM_001077365.1:c.1740G>A, NM_001077366.1:c.1578G>A, NM_001135954.1:c.*3786C>T, NM_001136113.1:c.1740G>A, NM_001136114.1:c.1389G>A, NM_001261450.1:c.*3653C>T, NM_001261451.1:c.*3653C>T, NM_007171.3:c.1806G>A, NM_031432.2:c.*3653C>T, XM_005272156.1:c.1806G>A, XM_005272157.1:c.1650G>A, XM_005272158.1:c.1644G>A, XM_005272159.1:c.1455G>A, XM_005272160.1:c.960G>A, XM_005272161.1:c.609G>A, XM_005272162.1:c.609G>A, XM_005272224.1:c.*3653C>T, XM_005272225.1:c.*3653C>T, XR_246602.1:n.*3818C>T, XR_246603.1:n.*2418C>TVOUS04/18/2017
148POMT1Ex18NM_007171.3:c.1812C>Tp.Ser604= | p.S604=LRG_842t1:c.1812C>T, NM_001077365.1:c.1746C>T, NM_001077366.1:c.1584C>T, NM_001135954.1:c.*3780G>A, NM_001136113.1:c.1746C>T, NM_001136114.1:c.1395C>T, NM_001261450.1:c.*3647G>A, NM_001261451.1:c.*3647G>A, NM_007171.3:c.1812C>T, NM_031432.2:c.*3647G>A, XM_005272156.1:c.1812C>T, XM_005272157.1:c.1656C>T, XM_005272158.1:c.1650C>T, XM_005272159.1:c.1461C>T, XM_005272160.1:c.966C>T, XM_005272161.1:c.615C>T, XM_005272162.1:c.615C>T, XM_005272224.1:c.*3647G>A, XM_005272225.1:c.*3647G>A, XR_246602.1:n.*3812G>A, XR_246603.1:n.*2412G>AVOUS12/28/2016
149POMT1Ex18NM_007171.3:c.1815C>Tp.Leu605= | p.L605=LRG_842t1:c.1815C>T, NM_001077365.1:c.1749C>T, NM_001077366.1:c.1587C>T, NM_001135954.1:c.*3777G>A, NM_001136113.1:c.1749C>T, NM_001136114.1:c.1398C>T, NM_001261450.1:c.*3644G>A, NM_001261451.1:c.*3644G>A, NM_007171.3:c.1815C>T, NM_031432.2:c.*3644G>A, XM_005272156.1:c.1815C>T, XM_005272157.1:c.1659C>T, XM_005272158.1:c.1653C>T, XM_005272159.1:c.1464C>T, XM_005272160.1:c.969C>T, XM_005272161.1:c.618C>T, XM_005272162.1:c.618C>T, XM_005272224.1:c.*3644G>A, XM_005272225.1:c.*3644G>A, XR_246602.1:n.*3809G>A, XR_246603.1:n.*2409G>AVOUS09/28/2016
150POMT1Ex18NM_007171.3:c.1815C>Gp.Leu605= | p.L605=NM_001077365.1:c.1749C>G, NM_001077366.1:c.1587C>G, NM_001135954.1:c.*3777G>C, NM_001136113.1:c.1749C>G, NM_001136114.1:c.1398C>G, NM_001261450.1:c.*3644G>C, NM_001261451.1:c.*3644G>C, NM_007171.3:c.1815C>G, NM_031432.2:c.*3644G>C, XM_005272156.1:c.1815C>G, XM_005272157.1:c.1659C>G, XM_005272158.1:c.1653C>G, XM_005272159.1:c.1464C>G, XM_005272160.1:c.969C>G, XM_005272161.1:c.618C>G, XM_005272162.1:c.618C>G, XM_005272224.1:c.*3644G>C, XM_005272225.1:c.*3644G>C, XR_246602.1:n.*3809G>C, XR_246603.1:n.*2409G>CVOUS01/29/2016
151POMT1Ex18NM_007171.3:c.1859G>Ap.Arg620Gln | p.R620QLRG_842t1:c.1859G>A, NM_001077365.1:c.1793G>A, NM_001077366.1:c.1631G>A, NM_001135954.1:c.*3733C>T, NM_001136113.1:c.1793G>A, NM_001136114.1:c.1442G>A, NM_001261450.1:c.*3600C>T, NM_001261451.1:c.*3600C>T, NM_007171.3:c.1859G>A, NM_031432.2:c.*3600C>T, XM_005272156.1:c.1859G>A, XM_005272157.1:c.1703G>A, XM_005272158.1:c.1697G>A, XM_005272159.1:c.1508G>A, XM_005272160.1:c.1013G>A, XM_005272161.1:c.662G>A, XM_005272162.1:c.662G>A, XM_005272224.1:c.*3600C>T, XM_005272225.1:c.*3600C>T, XR_246602.1:n.*3765C>T, XR_246603.1:n.*2365C>TVOUS06/05/2018
152POMT1Ex18NM_007171.3:c.1861C>Tp.Arg621Trp | p.R621WNM_001077365.1:c.1795C>T, NM_001077366.1:c.1633C>T, NM_001135954.1:c.*3731G>A, NM_001136113.1:c.1795C>T, NM_001136114.1:c.1444C>T, NM_001261450.1:c.*3598G>A, NM_001261451.1:c.*3598G>A, NM_007171.3:c.1861C>T, NM_031432.2:c.*3598G>A, XM_005272156.1:c.1861C>T, XM_005272157.1:c.1705C>T, XM_005272158.1:c.1699C>T, XM_005272159.1:c.1510C>T, XM_005272160.1:c.1015C>T, XM_005272161.1:c.664C>T, XM_005272162.1:c.664C>T, XM_005272224.1:c.*3598G>A, XM_005272225.1:c.*3598G>A, XR_246602.1:n.*3763G>A, XR_246603.1:n.*2363G>AVOUS12/17/2015
153POMT1Ex18NM_007171.3:c.1862G>Ap.Arg621Gln | p.R621QNM_001077365.1:c.1796G>A, NM_001077366.1:c.1634G>A, NM_001135954.1:c.*3730C>T, NM_001136113.1:c.1796G>A, NM_001136114.1:c.1445G>A, NM_001261450.1:c.*3597C>T, NM_001261451.1:c.*3597C>T, NM_007171.3:c.1862G>A, NM_031432.2:c.*3597C>T, XM_005272156.1:c.1862G>A, XM_005272157.1:c.1706G>A, XM_005272158.1:c.1700G>A, XM_005272159.1:c.1511G>A, XM_005272160.1:c.1016G>A, XM_005272161.1:c.665G>A, XM_005272162.1:c.665G>A, XM_005272224.1:c.*3597C>T, XM_005272225.1:c.*3597C>T, XR_246602.1:n.*3762C>T, XR_246603.1:n.*2362C>TVOUS09/03/2015
154POMT1Ex18NM_007171.3:c.1864C>Tp.Arg622* | p.R622XNM_001077365.1:c.1798C>T, NM_001077366.1:c.1636C>T, NM_001135954.1:c.*3728G>A, NM_001136113.1:c.1798C>T, NM_001136114.1:c.1447C>T, NM_001261450.1:c.*3595G>A, NM_001261451.1:c.*3595G>A, NM_007171.3:c.1864C>T, NM_031432.2:c.*3595G>A, XM_005272156.1:c.1864C>T, XM_005272157.1:c.1708C>T, XM_005272158.1:c.1702C>T, XM_005272159.1:c.1513C>T, XM_005272160.1:c.1018C>T, XM_005272161.1:c.667C>T, XM_005272162.1:c.667C>T, XM_005272224.1:c.*3595G>A, XM_005272225.1:c.*3595G>A, XR_246602.1:n.*3760G>A, XR_246603.1:n.*2360G>APathogenic02/21/2018 
155POMT1Ex19NM_007171.3:c.1892-40G>ALRG_842t1:c.1892-40G>A, NM_001077365.1:c.1826-40G>A, NM_001077366.1:c.1664-40G>A, NM_001135954.1:c.*3166C>T, NM_001136113.1:c.1826-40G>A, NM_001136114.1:c.1475-40G>A, NM_001261450.1:c.*3033C>T, NM_001261451.1:c.*3033C>T, NM_007171.3:c.1892-40G>A, NM_031432.2:c.*3033C>T, XM_005272156.1:c.1892-40G>A, XM_005272157.1:c.1736-40G>A, XM_005272158.1:c.1730-40G>A, XM_005272159.1:c.1541-40G>A, XM_005272160.1:c.1046-40G>A, XM_005272161.1:c.695-40G>A, XM_005272162.1:c.695-40G>A, XM_005272224.1:c.*3033C>T, XM_005272225.1:c.*3033C>T, XR_246602.1:n.*3198C>T, XR_246603.1:n.*1798C>TBenign02/09/2017 
156POMT1Ex19NM_007171.3:c.1904G>Ap.Arg635His | p.R635HLRG_842t1:c.1904G>A, NM_001077365.1:c.1838G>A, NM_001077366.1:c.1676G>A, NM_001135954.1:c.*3114C>T, NM_001136113.1:c.1838G>A, NM_001136114.1:c.1487G>A, NM_001261450.1:c.*2981C>T, NM_001261451.1:c.*2981C>T, NM_007171.3:c.1904G>A, NM_031432.2:c.*2981C>T, XM_005272156.1:c.1904G>A, XM_005272157.1:c.1748G>A, XM_005272158.1:c.1742G>A, XM_005272159.1:c.1553G>A, XM_005272160.1:c.1058G>A, XM_005272161.1:c.707G>A, XM_005272162.1:c.707G>A, XM_005272224.1:c.*2981C>T, XM_005272225.1:c.*2981C>T, XR_246602.1:n.*3146C>T, XR_246603.1:n.*1746C>TVOUS02/28/2018
157POMT1Ex19NM_007171.3:c.1921G>Ap.Ala641Thr | p.A641TLRG_842t1:c.1921G>A, NM_001077365.1:c.1855G>A, NM_001077366.1:c.1693G>A, NM_001135954.1:c.*3097C>T, NM_001136113.1:c.1855G>A, NM_001136114.1:c.1504G>A, NM_001261450.1:c.*2964C>T, NM_001261451.1:c.*2964C>T, NM_007171.3:c.1921G>A, NM_031432.2:c.*2964C>T, XM_005272156.1:c.1921G>A, XM_005272157.1:c.1765G>A, XM_005272158.1:c.1759G>A, XM_005272159.1:c.1570G>A, XM_005272160.1:c.1075G>A, XM_005272161.1:c.724G>A, XM_005272162.1:c.724G>A, XM_005272224.1:c.*2964C>T, XM_005272225.1:c.*2964C>T, XR_246602.1:n.*3129C>T, XR_246603.1:n.*1729C>TVOUS08/27/2020
158POMT1Ex19NM_007171.3:c.1922C>Tp.Ala641Val | p.A641VBenign** 
159POMT1Ex19NM_007171.3:c.1934G>Ap.Gly645Asp | p.G645DLRG_842t1:c.1934G>A, NM_001077365.1:c.1868G>A, NM_001077366.1:c.1706G>A, NM_001135954.1:c.*3084C>T, NM_001136113.1:c.1868G>A, NM_001136114.1:c.1517G>A, NM_001261450.1:c.*2951C>T, NM_001261451.1:c.*2951C>T, NM_007171.3:c.1934G>A, NM_031432.2:c.*2951C>T, XM_005272156.1:c.1934G>A, XM_005272157.1:c.1778G>A, XM_005272158.1:c.1772G>A, XM_005272159.1:c.1583G>A, XM_005272160.1:c.1088G>A, XM_005272161.1:c.737G>A, XM_005272162.1:c.737G>A, XM_005272224.1:c.*2951C>T, XM_005272225.1:c.*2951C>T, XR_246602.1:n.*3116C>T, XR_246603.1:n.*1716C>TVOUS12/07/2018
160POMT1Ex19NM_007171.3:c.1958C>Tp.Pro653Leu | p.P653LNM_001077365.1:c.1892C>T, NM_001077366.1:c.1730C>T, NM_001135954.1:c.*3060G>A, NM_001136113.1:c.1892C>T, NM_001136114.1:c.1541C>T, NM_001261450.1:c.*2927G>A, NM_001261451.1:c.*2927G>A, NM_007171.3:c.1958C>T, NM_031432.2:c.*2927G>A, XM_005272156.1:c.1958C>T, XM_005272157.1:c.1802C>T, XM_005272158.1:c.1796C>T, XM_005272159.1:c.1607C>T, XM_005272160.1:c.1112C>T, XM_005272161.1:c.761C>T, XM_005272162.1:c.761C>T, XM_005272224.1:c.*2927G>A, XM_005272225.1:c.*2927G>A, XR_246602.1:n.*3092G>A, XR_246603.1:n.*1692G>APathogenic04/17/2015 
161POMT1Ex19NM_007171.3:c.1998C>Tp.Tyr666= | p.Y666=NM_001077365.1:c.1932C>T, NM_001077366.1:c.1770C>T, NM_001135954.1:c.*3020G>A, NM_001136113.1:c.1932C>T, NM_001136114.1:c.1581C>T, NM_001261450.1:c.*2887G>A, NM_001261451.1:c.*2887G>A, NM_007171.3:c.1998C>T, NM_031432.2:c.*2887G>A, XM_005272156.1:c.1998C>T, XM_005272157.1:c.1842C>T, XM_005272158.1:c.1836C>T, XM_005272159.1:c.1647C>T, XM_005272160.1:c.1152C>T, XM_005272161.1:c.801C>T, XM_005272162.1:c.801C>T, XM_005272224.1:c.*2887G>A, XM_005272225.1:c.*2887G>A, XR_246602.1:n.*3052G>A, XR_246603.1:n.*1652G>ALikely benign10/23/2015 
162POMT1Ex19NM_007171.3:c.1999C>Tp.Leu667= | p.L667=LRG_842t1:c.1999C>T, NM_001077365.1:c.1933C>T, NM_001077366.1:c.1771C>T, NM_001135954.1:c.*3019G>A, NM_001136113.1:c.1933C>T, NM_001136114.1:c.1582C>T, NM_001261450.1:c.*2886G>A, NM_001261451.1:c.*2886G>A, NM_007171.3:c.1999C>T, NM_031432.2:c.*2886G>A, XM_005272156.1:c.1999C>T, XM_005272157.1:c.1843C>T, XM_005272158.1:c.1837C>T, XM_005272159.1:c.1648C>T, XM_005272160.1:c.1153C>T, XM_005272161.1:c.802C>T, XM_005272162.1:c.802C>T, XM_005272224.1:c.*2886G>A, XM_005272225.1:c.*2886G>A, XR_246602.1:n.*3051G>A, XR_246603.1:n.*1651G>AVOUS07/26/2016
163POMT1Ex19NM_007171.3:c.2005G>Ap.Ala669Thr | p.A669TNM_001077365.1:c.1939G>A, NM_001077366.1:c.1777G>A, NM_001135954.1:c.*3013C>T, NM_001136113.1:c.1939G>A, NM_001136114.1:c.1588G>A, NM_001261450.1:c.*2880C>T, NM_001261451.1:c.*2880C>T, NM_007171.3:c.2005G>A, NM_031432.2:c.*2880C>T, XM_005272156.1:c.2005G>A, XM_005272157.1:c.1849G>A, XM_005272158.1:c.1843G>A, XM_005272159.1:c.1654G>A, XM_005272160.1:c.1159G>A, XM_005272161.1:c.808G>A, XM_005272162.1:c.808G>A, XM_005272224.1:c.*2880C>T, XM_005272225.1:c.*2880C>T, XR_246602.1:n.*3045C>T, XR_246603.1:n.*1645C>TPathogenic07/13/2018 
164POMT1Ex19NM_007171.3:c.2052C>Tp.Ile684= | p.I684=NM_001077365.1:c.1986C>T, NM_001077366.1:c.1824C>T, NM_001135954.1:c.*2966G>A, NM_001136113.1:c.1986C>T, NM_001136114.1:c.1635C>T, NM_001261450.1:c.*2833G>A, NM_001261451.1:c.*2833G>A, NM_007171.3:c.2052C>T, NM_031432.2:c.*2833G>A, XM_005272156.1:c.2052C>T, XM_005272157.1:c.1896C>T, XM_005272158.1:c.1890C>T, XM_005272159.1:c.1701C>T, XM_005272160.1:c.1206C>T, XM_005272161.1:c.855C>T, XM_005272162.1:c.855C>T, XM_005272224.1:c.*2833G>A, XM_005272225.1:c.*2833G>A, XR_246602.1:n.*2998G>A, XR_246603.1:n.*1598G>AVOUS12/18/2018
165POMT1Ex19NM_007171.3:c.2069+4C>TNM_001077365.1:c.2003+4C>T, NM_001077366.1:c.1841+4C>T, NM_001135954.1:c.*2945G>A, NM_001136113.1:c.2003+4C>T, NM_001136114.1:c.1652+4C>T, NM_001261450.1:c.*2812G>A, NM_001261451.1:c.*2812G>A, NM_007171.3:c.2069+4C>T, NM_031432.2:c.*2812G>A, XM_005272156.1:c.2069+4C>T, XM_005272157.1:c.1913+4C>T, XM_005272158.1:c.1907+4C>T, XM_005272159.1:c.1718+4C>T, XM_005272160.1:c.1223+4C>T, XM_005272161.1:c.872+4C>T, XM_005272162.1:c.872+4C>T, XM_005272224.1:c.*2812G>A, XM_005272225.1:c.*2812G>A, XR_246602.1:n.*2977G>A, XR_246603.1:n.*1577G>AVOUS01/22/2016
166POMT1Ex19NM_007171.3:c.2069+9G>ANM_001077365.1:c.2003+9G>A, NM_001077366.1:c.1841+9G>A, NM_001135954.1:c.*2940C>T, NM_001136113.1:c.2003+9G>A, NM_001136114.1:c.1652+9G>A, NM_001261450.1:c.*2807C>T, NM_001261451.1:c.*2807C>T, NM_007171.3:c.2069+9G>A, NM_031432.2:c.*2807C>T, XM_005272156.1:c.2069+9G>A, XM_005272157.1:c.1913+9G>A, XM_005272158.1:c.1907+9G>A, XM_005272159.1:c.1718+9G>A, XM_005272160.1:c.1223+9G>A, XM_005272161.1:c.872+9G>A, XM_005272162.1:c.872+9G>A, XM_005272224.1:c.*2807C>T, XM_005272225.1:c.*2807C>T, XR_246602.1:n.*2972C>T, XR_246603.1:n.*1572C>TVOUS01/26/2016
167POMT1Ex19NM_007171.3:c.2069+13C>TLRG_842t1:c.2069+13C>T, NM_001077365.1:c.2003+13C>T, NM_001077366.1:c.1841+13C>T, NM_001135954.1:c.*2936G>A, NM_001136113.1:c.2003+13C>T, NM_001136114.1:c.1652+13C>T, NM_001261450.1:c.*2803G>A, NM_001261451.1:c.*2803G>A, NM_007171.3:c.2069+13C>T, NM_031432.2:c.*2803G>A, XM_005272157.1:c.1913+13C>T, XM_005272158.1:c.1907+13C>T, XM_005272159.1:c.1718+13C>TBenign02/11/2019 
168POMT1Ex20NM_007171.3:c.*41T>CBenign** 
169POMT1Ex20NM_007171.3:c.*226T>CLRG_842t1:c.*226T>C, NM_001077365.1:c.*226T>C, NM_001077366.1:c.*226T>C, NM_001135954.1:c.*1841A>G, NM_001136113.1:c.*226T>C, NM_001136114.1:c.*226T>C, NM_001261450.1:c.*1708A>G, NM_001261451.1:c.*1708A>G, NM_007171.3:c.*226T>C, NM_031432.2:c.*1708A>G, XM_005272156.1:c.*226T>C, XM_005272157.1:c.*226T>C, XM_005272158.1:c.*226T>C, XM_005272159.1:c.*226T>C, XM_005272160.1:c.*226T>C, XM_005272161.1:c.*226T>C, XM_005272162.1:c.*226T>C, XM_005272224.1:c.*1708A>G, XM_005272225.1:c.*1708A>G, XR_246602.1:n.*1873A>G, XR_246603.1:n.*473A>GBenign06/15/2016 
170POMT1Ex20NM_007171.3:c.2070-5T>CLRG_842t1:c.2070-5T>C, NM_001077365.1:c.2004-5T>C, NM_001077366.1:c.1842-5T>C, NM_001135954.1:c.*2246A>G, NM_001136113.1:c.2004-5T>C, NM_001136114.1:c.1653-5T>C, NM_001261450.1:c.*2113A>G, NM_001261451.1:c.*2113A>G, NM_007171.3:c.2070-5T>C, NM_031432.2:c.*2113A>G, XM_005272156.1:c.2070-5T>C, XM_005272157.1:c.1914-5T>C, XM_005272158.1:c.1908-5T>C, XM_005272159.1:c.1719-5T>C, XM_005272160.1:c.1224-5T>C, XM_005272161.1:c.873-5T>C, XM_005272162.1:c.873-5T>C, XM_005272224.1:c.*2113A>G, XM_005272225.1:c.*2113A>G, XR_246602.1:n.*2278A>G, XR_246603.1:n.*878A>GVOUS07/22/2016
171POMT1Ex20NM_007171.3:c.2070-1G>CNM_001077365.1:c.2004-1G>C, NM_001077366.1:c.1842-1G>C, NM_001135954.1:c.*2242C>G, NM_001136113.1:c.2004-1G>C, NM_001136114.1:c.1653-1G>C, NM_001261450.1:c.*2109C>G, NM_001261451.1:c.*2109C>G, NM_007171.3:c.2070-1G>C, NM_031432.2:c.*2109C>G, XM_005272156.1:c.2070-1G>C, XM_005272157.1:c.1914-1G>C, XM_005272158.1:c.1908-1G>C, XM_005272159.1:c.1719-1G>C, XM_005272160.1:c.1224-1G>C, XM_005272161.1:c.873-1G>C, XM_005272162.1:c.873-1G>C, XM_005272224.1:c.*2109C>G, XM_005272225.1:c.*2109C>G, XR_246602.1:n.*2274C>G, XR_246603.1:n.*874C>GPathogenic04/17/2015 
172POMT1Ex20NM_007171.3:c.2097C>Tp.Ser699= | p.S699=LRG_842t1:c.2097C>T, NM_001077365.1:c.2031C>T, NM_001077366.1:c.1869C>T, NM_001135954.1:c.*2214G>A, NM_001136113.1:c.2031C>T, NM_001136114.1:c.1680C>T, NM_001261450.1:c.*2081G>A, NM_001261451.1:c.*2081G>A, NM_007171.3:c.2097C>T, NM_031432.2:c.*2081G>A, XM_005272156.1:c.2097C>T, XM_005272157.1:c.1941C>T, XM_005272158.1:c.1935C>T, XM_005272159.1:c.1746C>T, XM_005272160.1:c.1251C>T, XM_005272161.1:c.900C>T, XM_005272162.1:c.900C>T, XM_005272224.1:c.*2081G>A, XM_005272225.1:c.*2081G>A, XR_246602.1:n.*2246G>A, XR_246603.1:n.*846G>AVOUS01/13/2017
173POMT1Ex20NM_007171.3:c.2124C>Tp.Ser708= | p.S708=LRG_842t1:c.2124C>T, NM_001077365.1:c.2058C>T, NM_001077366.1:c.1896C>T, NM_001135954.1:c.*2187G>A, NM_001136113.1:c.2058C>T, NM_001136114.1:c.1707C>T, NM_001261450.1:c.*2054G>A, NM_001261451.1:c.*2054G>A, NM_007171.3:c.2124C>T, NM_031432.2:c.*2054G>A, XM_005272156.1:c.2124C>T, XM_005272157.1:c.1968C>T, XM_005272158.1:c.1962C>T, XM_005272159.1:c.1773C>T, XM_005272160.1:c.1278C>T, XM_005272161.1:c.927C>T, XM_005272162.1:c.927C>T, XM_005272224.1:c.*2054G>A, XM_005272225.1:c.*2054G>A, XR_246602.1:n.*2219G>A, XR_246603.1:n.*819G>AVOUS06/13/2016
174POMT1Ex20NM_007171.3:c.2127G>Ap.Ala709= | p.A709=LRG_842t1:c.2127G>A, NM_001077365.1:c.2061G>A, NM_001077366.1:c.1899G>A, NM_001135954.1:c.*2184C>T, NM_001136113.1:c.2061G>A, NM_001136114.1:c.1710G>A, NM_001261450.1:c.*2051C>T, NM_001261451.1:c.*2051C>T, NM_007171.3:c.2127G>A, NM_031432.2:c.*2051C>T, XM_005272156.1:c.2127G>A, XM_005272157.1:c.1971G>A, XM_005272158.1:c.1965G>A, XM_005272159.1:c.1776G>A, XM_005272160.1:c.1281G>A, XM_005272161.1:c.930G>A, XM_005272162.1:c.930G>A, XM_005272224.1:c.*2051C>T, XM_005272225.1:c.*2051C>T, XR_246602.1:n.*2216C>T, XR_246603.1:n.*816C>TVOUS08/22/2017
175POMT1Ex20NM_007171.3:c.2133C>Tp.His711= | p.H711=LRG_842t1:c.2133C>T, NM_001077365.1:c.2067C>T, NM_001077366.1:c.1905C>T, NM_001135954.1:c.*2178G>A, NM_001136113.1:c.2067C>T, NM_001136114.1:c.1716C>T, NM_001261450.1:c.*2045G>A, NM_001261451.1:c.*2045G>A, NM_007171.3:c.2133C>T, NM_031432.2:c.*2045G>A, XM_005272156.1:c.2133C>T, XM_005272157.1:c.1977C>T, XM_005272158.1:c.1971C>T, XM_005272159.1:c.1782C>T, XM_005272160.1:c.1287C>T, XM_005272161.1:c.936C>T, XM_005272162.1:c.936C>T, XM_005272224.1:c.*2045G>A, XM_005272225.1:c.*2045G>A, XR_246602.1:n.*2210G>A, XR_246603.1:n.*810G>AVOUS06/06/2016
176POMT1Ex20NM_007171.3:c.2153C>Gp.Pro718Arg | p.P718RLRG_842t1:c.2153C>G, NM_001077365.1:c.2087C>G, NM_001077366.1:c.1925C>G, NM_001135954.1:c.*2158G>C, NM_001136113.1:c.2087C>G, NM_001136114.1:c.1736C>G, NM_001261450.1:c.*2025G>C, NM_001261451.1:c.*2025G>C, NM_007171.3:c.2153C>G, NM_031432.2:c.*2025G>C, XM_005272156.1:c.2153C>G, XM_005272157.1:c.1997C>G, XM_005272158.1:c.1991C>G, XM_005272159.1:c.1802C>G, XM_005272160.1:c.1307C>G, XM_005272161.1:c.956C>G, XM_005272162.1:c.956C>G, XM_005272224.1:c.*2025G>C, XM_005272225.1:c.*2025G>C, XR_246602.1:n.*2190G>C, XR_246603.1:n.*790G>CVOUS08/08/2016
177POMT1Ex20NM_007171.3:c.2163C>Ap.Tyr721* | p.Y721XNM_001077365.1:c.2097C>A, NM_001077366.1:c.1935C>A, NM_001135954.1:c.*2148G>T, NM_001136113.1:c.2097C>A, NM_001136114.1:c.1746C>A, NM_001261450.1:c.*2015G>T, NM_001261451.1:c.*2015G>T, NM_007171.3:c.2163C>A, NM_031432.2:c.*2015G>T, XM_005272156.1:c.2163C>A, XM_005272157.1:c.2007C>A, XM_005272158.1:c.2001C>A, XM_005272159.1:c.1812C>A, XM_005272160.1:c.1317C>A, XM_005272161.1:c.966C>A, XM_005272162.1:c.966C>A, XM_005272224.1:c.*2015G>T, XM_005272225.1:c.*2015G>T, XR_246602.1:n.*2180G>T, XR_246603.1:n.*780G>TPathogenic09/01/2016 
178POMT1Ex20NM_007171.3:c.2163C>Tp.Tyr721= | p.Y721=NM_001077365.1:c.2097C>T, NM_001077366.1:c.1935C>T, NM_001135954.1:c.*2148G>A, NM_001136113.1:c.2097C>T, NM_001136114.1:c.1746C>T, NM_001261450.1:c.*2015G>A, NM_001261451.1:c.*2015G>A, NM_007171.3:c.2163C>T, NM_031432.2:c.*2015G>A, XM_005272156.1:c.2163C>T, XM_005272157.1:c.2007C>T, XM_005272158.1:c.2001C>T, XM_005272159.1:c.1812C>T, XM_005272160.1:c.1317C>T, XM_005272161.1:c.966C>T, XM_005272162.1:c.966C>T, XM_005272224.1:c.*2015G>A, XM_005272225.1:c.*2015G>A, XR_246602.1:n.*2180G>A, XR_246603.1:n.*780G>AVOUS11/02/2017
179POMT1Ex20NM_007171.3:c.2167dupGp.Asp723Glyfs*8 | p.D723GfsX8LRG_842t1:c.2167dupG, NM_001077365.1:c.2101_2102insG, NM_001077365.1:c.2101dup, NM_001077365.1:c.2101dupG, NM_001077366.1:c.1939_1940insG, NM_001077366.1:c.1939dup, NM_001077366.1:c.1939dupG, NM_001135954.1:c.*2143_*2144insC, NM_001135954.1:c.*2144dup, NM_001135954.1:c.*2144dupC, NM_001136113.1:c.2101_2102insG, NM_001136113.1:c.2101dup, NM_001136113.1:c.2101dupG, NM_001136114.1:c.1750_1751insG, NM_001136114.1:c.1750dup, NM_001136114.1:c.1750dupG, NM_001261450.1:c.*2010_*2011insC, NM_001261450.1:c.*2011dup, NM_001261450.1:c.*2011dupC, NM_001261451.1:c.*2010_*2011insC, NM_001261451.1:c.*2011dup, NM_001261451.1:c.*2011dupC, NM_007171.3:c.2167_2168insG, NM_007171.3:c.2167dup, NM_007171.3:c.2167dupG, NM_031432.2:c.*2010_*2011insC, NM_031432.2:c.*2011dup, NM_031432.2:c.*2011dupC, XM_005272156.1:c.2167_2168insG, XM_005272156.1:c.2167dupG, XM_005272157.1:c.2011_2012insG, XM_005272157.1:c.2011dupG, XM_005272158.1:c.2005_2006insG, XM_005272158.1:c.2005dupG, XM_005272159.1:c.1816_1817insG, XM_0Pathogenic02/22/2019 
180POMT1Ex20NM_007171.3:c.2181G>Ap.Ser727= | p.S727=NM_001077365.1:c.2115G>A, NM_001077366.1:c.1953G>A, NM_001135954.1:c.*2130C>T, NM_001136113.1:c.2115G>A, NM_001136114.1:c.1764G>A, NM_001261450.1:c.*1997C>T, NM_001261451.1:c.*1997C>T, NM_007171.3:c.2181G>A, NM_031432.2:c.*1997C>T, XM_005272157.1:c.2025G>A, XM_005272158.1:c.2019G>A, XM_005272159.1:c.1830G>ABenign07/15/2016 
181POMT1Ex20NM_007171.3:c.2203C>Tp.Arg735Cys | p.R735CNM_001077365.1:c.2137C>T, NM_001077366.1:c.1975C>T, NM_001135954.1:c.*2108G>A, NM_001136113.1:c.2137C>T, NM_001136114.1:c.1786C>T, NM_001261450.1:c.*1975G>A, NM_001261451.1:c.*1975G>A, NM_007171.3:c.2203C>T, NM_031432.2:c.*1975G>ABenign07/09/2012 
182POMT1Ex20NM_007171.3:c.2209A>Cp.Lys737Gln | p.K737QLRG_842t1:c.2209A>C, NM_001077365.1:c.2143A>C, NM_001077366.1:c.1981A>C, NM_001135954.1:c.*2102T>G, NM_001136113.1:c.2143A>C, NM_001136114.1:c.1792A>C, NM_001261450.1:c.*1969T>G, NM_001261451.1:c.*1969T>G, NM_007171.3:c.2209A>C, NM_031432.2:c.*1969T>G, XM_005272156.1:c.2209A>C, XM_005272157.1:c.2053A>C, XM_005272158.1:c.2047A>C, XM_005272159.1:c.1858A>C, XM_005272160.1:c.1363A>C, XM_005272161.1:c.1012A>C, XM_005272162.1:c.1012A>C, XM_005272224.1:c.*1969T>G, XM_005272225.1:c.*1969T>G, XR_246602.1:n.*2134T>G, XR_246603.1:n.*734T>GVOUS07/08/2016
183POMT1Ex20NM_007171.3:c.2234G>Ap.Arg745Gln | p.R745QNM_001077365.1:c.2168G>A, NM_001077366.1:c.2006G>A, NM_001135954.1:c.*2077C>T, NM_001136113.1:c.2168G>A, NM_001136114.1:c.1817G>A, NM_001261450.1:c.*1944C>T, NM_001261451.1:c.*1944C>T, NM_007171.3:c.2234G>A, NM_031432.2:c.*1944C>T, XM_005272156.1:c.2234G>A, XM_005272157.1:c.2078G>A, XM_005272158.1:c.2072G>A, XM_005272159.1:c.1883G>A, XM_005272160.1:c.1388G>A, XM_005272161.1:c.1037G>A, XM_005272162.1:c.1037G>A, XM_005272224.1:c.*1944C>T, XM_005272225.1:c.*1944C>T, XR_246602.1:n.*2109C>T, XR_246603.1:n.*709C>TBenign09/10/2015 
184POMT1Ex20NM_007171.3:c.2244G>Ap.*748= | p.X748=NM_001077365.1:c.2178G>A, NM_001077366.1:c.2016G>A, NM_001135954.1:c.*2067C>T, NM_001136113.1:c.2178G>A, NM_001136114.1:c.1827G>A, NM_001261450.1:c.*1934C>T, NM_001261451.1:c.*1934C>T, NM_007171.3:c.2244G>A, NM_007171.3:p.*748X, NM_031432.2:c.*1934C>T, XM_005272156.1:c.2244G>A, XM_005272157.1:c.2088G>A, XM_005272158.1:c.2082G>A, XM_005272159.1:c.1893G>A, XM_005272160.1:c.1398G>A, XM_005272161.1:c.1047G>A, XM_005272162.1:c.1047G>A, XM_005272224.1:c.*1934C>T, XM_005272225.1:c.*1934C>T, XR_246602.1:n.*2099C>T, XR_246603.1:n.*699C>TLikely benign10/13/2015 

* 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.