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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  
1HSD17B4Ex1NM_000414.3:c.-5T>AVOUS02/07/2020
2HSD17B4Ex1NM_000414.3:c.11C>Gp.Pro4Arg | p.P4RNM_000414.2:c.11C>G, NM_000414.3:c.11C>G, NM_001199291.1:c.-168C>G, NM_001199292.1:c.11C>G, XM_005271978.1:c.-127C>G, XM_005271979.1:c.-589C>G, XM_005271981.1:c.-589C>GVOUS07/29/2020
3HSD17B4Ex1NM_000414.3:c.15G>Ap.Leu5= | p.L5=NM_000414.2:c.15G>A, NM_000414.3:c.15G>A, NM_001199291.1:c.-164G>A, NM_001199292.1:c.15G>A, XM_005271978.1:c.-123G>A, XM_005271979.1:c.-585G>A, XM_005271981.1:c.-585G>AVOUS08/30/2018
4HSD17B4Ex1NM_000414.3:c.27G>Ap.Gly9= | p.G9=NM_000414.2:c.27G>A, NM_000414.3:c.27G>A, NM_001199291.1:c.-152G>A, NM_001199292.1:c.27G>A, XM_005271978.1:c.-111G>A, XM_005271979.1:c.-573G>A, XM_005271981.1:c.-573G>AVOUS04/14/2017
5HSD17B4Ex1NM_000414.3:c.37C>Ap.Leu13Met | p.L13MNM_000414.2:c.37C>A, NM_000414.3:c.37C>A, NM_001199291.1:c.-142C>A, NM_001199292.1:c.37C>A, XM_005271978.1:c.-101C>A, XM_005271979.1:c.-563C>A, XM_005271981.1:c.-563C>AVOUS02/22/2018
6HSD17B4Ex1NM_000414.3:c.46G>Ap.Gly16Ser | p.G16SNM_000414.2:c.46G>A, NM_000414.3:c.46G>A, NM_001199291.1:c.-133G>A, NM_001199292.1:c.46G>A, XM_005271978.1:c.-92G>A, XM_005271979.1:c.-554G>A, XM_005271981.1:c.-554G>APathogenic11/07/2018 
7HSD17B4Ex1NM_000414.3:c.54G>Ap.Gly18= | p.G18=NM_000414.2:c.54G>A, NM_000414.3:c.54G>A, NM_001199291.1:c.-125G>A, NM_001199292.1:c.54G>A, XM_005271978.1:c.-84G>A, XM_005271979.1:c.-546G>A, XM_005271981.1:c.-546G>AVOUS12/01/2020
8HSD17B4Ex2NM_000414.3:c.68G>Tp.Arg23Leu | p.R23LNM_000414.2:c.68G>T, NM_000414.3:c.68G>T, NM_001199291.1:c.78G>T, NM_001199292.1:c.58+3691G>T, XM_005271978.1:c.-70G>T, XM_005271979.1:c.-344G>T, XM_005271981.1:c.-344G>TVOUS09/15/2020
9HSD17B4Ex2NM_000414.3:c.99A>Gp.Gly33= | p.G33=NM_000414.2:c.99A>G, NM_000414.3:c.99A>G, NM_001199291.1:c.109A>G, NM_001199292.1:c.58+3722A>G, XM_005271978.1:c.-39A>G, XM_005271979.1:c.-313A>G, XM_005271981.1:c.-313A>GVOUS01/04/2018
10HSD17B4Ex2NM_000414.3:c.109G>Ap.Val37Ile | p.V37INM_000414.2:c.109G>A, NM_000414.3:c.109G>A, NM_001199291.1:c.119G>A, NM_001199292.1:c.58+3732G>A, XM_005271978.1:c.-29G>A, XM_005271979.1:c.-303G>A, XM_005271981.1:c.-303G>AVOUS08/27/2018
11HSD17B4Ex2NM_000414.3:c.112+8G>ANM_000414.2:c.112+8G>A, NM_000414.3:c.112+8G>A, NM_001199291.1:c.122+8G>A, NM_001199292.1:c.58+3743G>A, XM_005271978.1:c.-26+8G>A, XM_005271979.1:c.-300+8G>A, XM_005271981.1:c.-300+8G>AVOUS02/27/2017
12HSD17B4Ex3NM_000414.3:c.175G>Ap.Val59Ile | p.V59INM_000414.2:c.175G>A, NM_000414.3:c.175G>A, NM_001199291.1:c.250G>A, NM_001199292.1:c.121G>A, XM_005271978.1:c.103G>A, XM_005271979.1:c.-237G>A, XM_005271980.1:c.-2817G>A, XM_005271981.1:c.-237G>AVOUS04/15/2015
13HSD17B4Ex3NM_000414.3:c.191G>Cp.Arg64Thr | p.R64TNM_000414.2:c.191G>C, NM_000414.3:c.191G>C, NM_001199291.1:c.266G>C, NM_001199292.1:c.137G>C, XM_005271978.1:c.119G>C, XM_005271979.1:c.-221G>C, XM_005271980.1:c.-2801G>C, XM_005271981.1:c.-221G>CVOUS12/01/2020
14HSD17B4Ex3NM_000414.3:c.220G>Ap.Asp74Asn | p.D74NNM_000414.2:c.220G>A, NM_000414.3:c.220G>A, NM_001199291.1:c.295G>A, NM_001199292.1:c.166G>A, XM_005271978.1:c.148G>A, XM_005271979.1:c.-192G>A, XM_005271980.1:c.-2772G>A, XM_005271981.1:c.-192G>AVOUS10/30/2018
15HSD17B4Ex4NM_000414.3:c.230A>Gp.Glu77Gly | p.E77GNM_000414.2:c.230A>G, NM_000414.3:c.230A>G, NM_001199291.1:c.305A>G, NM_001199292.1:c.176A>G, XM_005271978.1:c.158A>G, XM_005271979.1:c.-182A>G, XM_005271980.1:c.-2377A>G, XM_005271981.1:c.-182A>GVOUS10/26/2017
16HSD17B4Ex4NM_000414.3:c.268T>Cp.Phe90Leu | p.F90LNM_000414.2:c.268T>C, NM_000414.3:c.268T>C, NM_001199291.1:c.343T>C, NM_001199292.1:c.214T>C, XM_005271978.1:c.196T>C, XM_005271979.1:c.-144T>C, XM_005271980.1:c.-2339T>C, XM_005271981.1:c.-144T>CVOUS06/04/2019
17HSD17B4Ex4NM_000414.3:c.271G>Ap.Gly91Arg | p.G91RNM_000414.2:c.271G>A, NM_000414.3:c.271G>A, NM_001199291.1:c.346G>A, NM_001199292.1:c.217G>A, XM_005271978.1:c.199G>A, XM_005271979.1:c.-141G>A, XM_005271980.1:c.-2336G>A, XM_005271981.1:c.-141G>AVOUS11/22/2017
18HSD17B4Ex4NM_000414.3:c.278T>Cp.Ile93Thr | p.I93TNM_000414.2:c.278T>C, NM_000414.3:c.278T>C, NM_001199291.1:c.353T>C, NM_001199292.1:c.224T>C, XM_005271978.1:c.206T>C, XM_005271979.1:c.-134T>C, XM_005271980.1:c.-2329T>C, XM_005271981.1:c.-134T>CVOUS03/21/2017
19HSD17B4Ex5NM_000414.3:c.281-7A>GNM_000414.2:c.281-7A>G, NM_000414.3:c.281-7A>G, NM_001199291.1:c.356-7A>G, NM_001199292.1:c.227-7A>G, XM_005271978.1:c.209-7A>G, XM_005271979.1:c.-131-7A>G, XM_005271980.1:c.-1088A>G, XM_005271981.1:c.-131-7A>GBenign03/30/2017 
20HSD17B4Ex5NM_000414.3:c.293A>Tp.Asn98Ile | p.N98INM_000414.2:c.293A>T, NM_000414.3:c.293A>T, NM_001199291.1:c.368A>T, NM_001199292.1:c.239A>T, XM_005271978.1:c.221A>T, XM_005271979.1:c.-119A>T, XM_005271980.1:c.-1069A>T, XM_005271981.1:c.-119A>TVOUS06/28/2019
21HSD17B4Ex5NM_000414.3:c.293A>Gp.Asn98Ser | p.N98SNM_000414.2:c.293A>G, NM_000414.3:c.293A>G, NM_001199291.1:c.368A>G, NM_001199292.1:c.239A>G, XM_005271978.1:c.221A>G, XM_005271979.1:c.-119A>G, XM_005271980.1:c.-1069A>G, XM_005271981.1:c.-119A>GVOUS06/28/2019
22HSD17B4Ex5NM_000414.3:c.301G>Cp.Gly101Arg | p.G101RNM_000414.2:c.301G>C, NM_000414.3:c.301G>C, NM_001199291.1:c.376G>C, NM_001199292.1:c.247G>C, XM_005271978.1:c.229G>C, XM_005271979.1:c.-111G>C, XM_005271980.1:c.-1061G>C, XM_005271981.1:c.-111G>CVOUS10/20/2015
23HSD17B4Ex6NM_000414.3:c.317G>Ap.Arg106His | p.R106HNM_000414.2:c.317G>A, NM_000414.3:c.317G>A, NM_001199291.1:c.392G>A, NM_001199292.1:c.263G>A, XM_005271978.1:c.245G>A, XM_005271979.1:c.-95G>A, XM_005271980.1:c.-949G>A, XM_005271981.1:c.-95G>ABenign01/16/2015 
24HSD17B4Ex7NM_000414.3:c.357C>Ap.Ile119= | p.I119=NM_000414.2:c.357C>A, NM_000414.3:c.357C>A, NM_001199291.1:c.432C>A, NM_001199292.1:c.303C>A, XM_005271978.1:c.285C>A, XM_005271979.1:c.-55C>A, XM_005271980.1:c.-55C>A, XM_005271981.1:c.-55C>AVOUS10/06/2017
25HSD17B4Ex7NM_000414.3:c.374G>Ap.Arg125Gln | p.R125QNM_000414.2:c.374G>A, NM_000414.3:c.374G>A, NM_001199291.1:c.449G>A, NM_001199292.1:c.320G>A, XM_005271978.1:c.302G>A, XM_005271979.1:c.-38G>A, XM_005271980.1:c.-38G>A, XM_005271981.1:c.-38G>AVOUS08/08/2017
26HSD17B4Ex7NM_000414.3:c.394C>Tp.Arg132Trp | p.R132WNM_000414.2:c.394C>T, NM_000414.3:c.394C>T, NM_001199291.1:c.469C>T, NM_001199292.1:c.340C>T, XM_005271978.1:c.322C>T, XM_005271979.1:c.-18C>T, XM_005271980.1:c.-18C>T, XM_005271981.1:c.-18C>TVOUS06/06/2018
27HSD17B4Ex8NM_000414.3:c.473A>Gp.Asn158Ser | p.N158SNM_000414.2:c.473A>G, NM_000414.3:c.473A>G, NM_001199291.1:c.548A>G, NM_001199292.1:c.419A>G, XM_005271978.1:c.401A>G, XM_005271979.1:c.62A>G, XM_005271980.1:c.62A>G, XM_005271981.1:c.53A>GVOUS06/19/2019
28HSD17B4Ex8NM_000414.3:c.501A>Cp.Ala167= | p.A167=NM_000414.2:c.501A>C, NM_000414.3:c.501A>C, NM_001199291.1:c.576A>C, NM_001199292.1:c.447A>C, XM_005271978.1:c.429A>C, XM_005271979.1:c.90A>C, XM_005271980.1:c.90A>C, XM_005271981.1:c.81A>CVOUS02/24/2020
29HSD17B4Ex8NM_000414.3:c.574A>Gp.Ile192Val | p.I192VNM_000414.2:c.574A>G, NM_000414.3:c.574A>G, NM_001199291.1:c.649A>G, NM_001199292.1:c.520A>G, XM_005271978.1:c.502A>G, XM_005271979.1:c.163A>G, XM_005271980.1:c.163A>G, XM_005271981.1:c.154A>GVOUS03/26/2019
30HSD17B4Ex8NM_000414.3:c.595C>Tp.Arg199Trp | p.R199WNM_000414.2:c.595C>T, NM_000414.3:c.595C>T, NM_001199291.1:c.670C>T, NM_001199292.1:c.541C>T, XM_005271978.1:c.523C>T, XM_005271979.1:c.184C>T, XM_005271980.1:c.184C>T, XM_005271981.1:c.175C>TVOUS10/09/2018
31HSD17B4Ex8NM_000414.3:c.622+5G>ANM_000414.2:c.622+5G>A, NM_000414.3:c.622+5G>A, NM_001199291.1:c.697+5G>A, NM_001199292.1:c.568+5G>A, XM_005271978.1:c.550+5G>A, XM_005271979.1:c.211+5G>A, XM_005271980.1:c.211+5G>A, XM_005271981.1:c.202+5G>AVOUS06/26/2020
32HSD17B4Ex9NM_000414.3:c.628G>Ap.Val210Met | p.V210MNM_000414.2:c.628G>A, NM_000414.3:c.628G>A, NM_001199291.1:c.703G>A, NM_001199292.1:c.574G>A, XM_005271978.1:c.556G>A, XM_005271979.1:c.217G>A, XM_005271980.1:c.217G>A, XM_005271981.1:c.208G>AVOUS08/11/2017
33HSD17B4Ex9NM_000414.3:c.650A>Tp.Tyr217Phe | p.Y217FNM_000414.2:c.650A>T, NM_000414.3:c.650A>T, NM_001199291.1:c.725A>T, NM_001199292.1:c.596A>T, XM_005271978.1:c.578A>T, XM_005271979.1:c.239A>T, XM_005271980.1:c.239A>T, XM_005271981.1:c.230A>TVOUS04/03/2018
34HSD17B4Ex9NM_000414.3:c.666C>Gp.Val222= | p.V222=NM_000414.2:c.666C>G, NM_000414.3:c.666C>G, NM_001199291.1:c.741C>G, NM_001199292.1:c.612C>G, XM_005271978.1:c.594C>G, XM_005271979.1:c.255C>G, XM_005271980.1:c.255C>G, XM_005271981.1:c.246C>GBenign12/19/2014 
35HSD17B4Ex9NM_000414.3:c.666C>Tp.Val222= | p.V222=NM_000414.2:c.666C>T, NM_000414.3:c.666C>T, NM_001199291.1:c.741C>T, NM_001199292.1:c.612C>T, XM_005271978.1:c.594C>T, XM_005271979.1:c.255C>T, XM_005271980.1:c.255C>T, XM_005271981.1:c.246C>TVOUS02/20/2020
36HSD17B4Ex9NM_000414.3:c.714+3A>GVOUS01/07/2020
37HSD17B4Ex10NM_000414.3:c.739+7C>GNM_000414.2:c.739+7C>G, NM_000414.3:c.739+7C>G, NM_001199291.1:c.814+7C>G, NM_001199292.1:c.685+7C>G, XM_005271978.1:c.667+7C>G, XM_005271979.1:c.328+7C>G, XM_005271980.1:c.328+7C>G, XM_005271981.1:c.319+7C>GVOUS09/27/2017
38HSD17B4Ex11NM_000414.3:c.766A>Gp.Ile256Val | p.I256VNM_000414.2:c.766A>G, NM_000414.3:c.766A>G, NM_001199291.1:c.841A>G, NM_001199292.1:c.712A>G, XM_005271978.1:c.694A>G, XM_005271979.1:c.355A>G, XM_005271980.1:c.355A>G, XM_005271981.1:c.346A>GVOUS02/15/2018
39HSD17B4Ex11NM_000414.3:c.782A>Cp.Asn261Thr | p.N261TNM_000414.2:c.782A>C, NM_000414.3:c.782A>C, NM_001199291.1:c.857A>C, NM_001199292.1:c.728A>C, XM_005271978.1:c.710A>C, XM_005271979.1:c.371A>C, XM_005271980.1:c.371A>C, XM_005271981.1:c.362A>CVOUS03/26/2020
40HSD17B4Ex11NM_000414.3:c.803C>Tp.Ala268Val | p.A268VNM_000414.2:c.803C>T, NM_000414.3:c.803C>T, NM_001199291.1:c.878C>T, NM_001199292.1:c.749C>T, XM_005271978.1:c.731C>T, XM_005271979.1:c.392C>T, XM_005271980.1:c.392C>T, XM_005271981.1:c.383C>TVOUS09/08/2017
41HSD17B4Ex11NM_000414.3:c.811G>Ap.Ala271Thr | p.A271TNM_000414.2:c.811G>A, NM_000414.3:c.811G>A, NM_001199291.1:c.886G>A, NM_001199292.1:c.757G>A, XM_005271978.1:c.739G>A, XM_005271979.1:c.400G>A, XM_005271980.1:c.400G>A, XM_005271981.1:c.391G>AVOUS12/13/2017
42HSD17B4Ex11NM_000414.3:c.812C>Gp.Ala271Gly | p.A271GNM_000414.2:c.812C>G, NM_000414.3:c.812C>G, NM_001199291.1:c.887C>G, NM_001199292.1:c.758C>G, XM_005271978.1:c.740C>G, XM_005271979.1:c.401C>G, XM_005271980.1:c.401C>G, XM_005271981.1:c.392C>GVOUS03/04/2021
43HSD17B4Ex11NM_000414.3:c.819G>Tp.Trp273Cys | p.W273CNM_000414.2:c.819G>T, NM_000414.3:c.819G>T, NM_001199291.1:c.894G>T, NM_001199292.1:c.765G>T, XM_005271978.1:c.747G>T, XM_005271979.1:c.408G>T, XM_005271980.1:c.408G>T, XM_005271981.1:c.399G>TLikely pathogenic10/30/2018 
44HSD17B4Ex11NM_000414.3:c.822G>Ap.Lys274= | p.K274=NM_000414.2:c.822G>A, NM_000414.3:c.822G>A, NM_001199291.1:c.897G>A, NM_001199292.1:c.768G>A, XM_005271978.1:c.750G>A, XM_005271979.1:c.411G>A, XM_005271980.1:c.411G>A, XM_005271981.1:c.402G>AVOUS10/14/2018
45HSD17B4Ex11NM_000414.3:c.862A>Gp.Ile288Val | p.I288VNM_000414.2:c.862A>G, NM_000414.3:c.862A>G, NM_001199291.1:c.937A>G, NM_001199292.1:c.808A>G, XM_005271978.1:c.790A>G, XM_005271979.1:c.451A>G, XM_005271980.1:c.451A>G, XM_005271981.1:c.442A>GVOUS09/12/2017
46HSD17B4Ex12NM_000414.3:c.869-9_869-3delTCATTTTVOUS01/16/2020
47HSD17B4Ex12NM_000414.3:c.932A>Gp.Asn311Ser | p.N311SNM_000414.2:c.932A>G, NM_000414.3:c.932A>G, NM_001199291.1:c.1007A>G, NM_001199292.1:c.878A>G, XM_005271978.1:c.860A>G, XM_005271979.1:c.521A>G, XM_005271980.1:c.521A>G, XM_005271981.1:c.512A>GVOUS04/18/2017
48HSD17B4Ex12NM_000414.3:c.936_937delTAp.Thr313* | p.T313XNM_000414.2:c.936_937delTA, NM_000414.3:c.936_937delTA, NM_001199291.1:c.1011_1012delTA, NM_001199292.1:c.882_883delTA, XM_005271978.1:c.864_865delTA, XM_005271979.1:c.525_526delTA, XM_005271980.1:c.525_526delTA, XM_005271981.1:c.516_517delTAPathogenic06/28/2019 
49HSD17B4Ex12NM_000414.3:c.943C>Tp.Arg315Cys | p.R315CNM_000414.2:c.943C>T, NM_000414.3:c.943C>T, NM_001199291.1:c.1018C>T, NM_001199292.1:c.889C>T, XM_005271978.1:c.871C>T, XM_005271979.1:c.532C>T, XM_005271980.1:c.532C>T, XM_005271981.1:c.523C>TVOUS04/09/2019
50HSD17B4Ex12NM_000414.3:c.948A>Gp.Ala316= | p.A316=NM_000414.2:c.948A>G, NM_000414.3:c.948A>G, NM_001199291.1:c.1023A>G, NM_001199292.1:c.894A>G, XM_005271978.1:c.876A>G, XM_005271979.1:c.537A>G, XM_005271980.1:c.537A>G, XM_005271981.1:c.528A>GBenign10/05/2015 
51HSD17B4Ex12NM_000414.3:c.950C>Tp.Thr317Met | p.T317MNM_000414.2:c.950C>T, NM_000414.3:c.950C>T, NM_001199291.1:c.1025C>T, NM_001199292.1:c.896C>T, XM_005271978.1:c.878C>T, XM_005271979.1:c.539C>T, XM_005271980.1:c.539C>T, XM_005271981.1:c.530C>TVOUS12/11/2019
52HSD17B4Ex12NM_000414.3:c.951G>Ap.Thr317= | p.T317=NM_000414.2:c.951G>A, NM_000414.3:c.951G>A, NM_001199291.1:c.1026G>A, NM_001199292.1:c.897G>A, XM_005271978.1:c.879G>A, XM_005271979.1:c.540G>A, XM_005271980.1:c.540G>A, XM_005271981.1:c.531G>AVOUS04/27/2018
53HSD17B4Ex12NM_000414.3:c.957A>Gp.Thr319= | p.T319=NM_000414.2:c.957A>G, NM_000414.3:c.957A>G, NM_001199291.1:c.1032A>G, NM_001199292.1:c.903A>G, XM_005271978.1:c.885A>G, XM_005271979.1:c.546A>G, XM_005271980.1:c.546A>G, XM_005271981.1:c.537A>GVOUS10/14/2019
54HSD17B4Ex13NM_000414.3:c.977G>Cp.Gly326Ala | p.G326ANM_000414.2:c.977G>C, NM_000414.3:c.977G>C, NM_001199291.1:c.1052G>C, NM_001199292.1:c.923G>C, XM_005271978.1:c.905G>C, XM_005271979.1:c.566G>C, XM_005271980.1:c.566G>C, XM_005271981.1:c.557G>CVOUS05/14/2018
55HSD17B4Ex13NM_000414.3:c.994C>Tp.Leu332Phe | p.L332FNM_000414.2:c.994C>T, NM_000414.3:c.994C>T, NM_001199291.1:c.1069C>T, NM_001199292.1:c.940C>T, XM_005271978.1:c.922C>T, XM_005271979.1:c.583C>T, XM_005271980.1:c.583C>T, XM_005271981.1:c.574C>TVOUS12/21/2017
56HSD17B4Ex13NM_000414.3:c.1058C>Tp.Ala353Val | p.A353VNM_000414.2:c.1058C>T, NM_000414.3:c.1058C>T, NM_001199291.1:c.1133C>T, NM_001199292.1:c.1004C>T, XM_005271978.1:c.986C>T, XM_005271979.1:c.647C>T, XM_005271980.1:c.647C>T, XM_005271981.1:c.638C>TVOUS12/01/2020
57HSD17B4Ex13NM_000414.3:c.1070A>Tp.Asp357Val | p.D357VNM_000414.2:c.1070A>T, NM_000414.3:c.1070A>T, NM_001199291.1:c.1145A>T, NM_001199292.1:c.1016A>T, XM_005271978.1:c.998A>T, XM_005271979.1:c.659A>T, XM_005271980.1:c.659A>T, XM_005271981.1:c.650A>TVOUS12/13/2018
58HSD17B4Ex13NM_000414.3:c.1105T>Cp.Ser369Pro | p.S369PNM_000414.2:c.1105T>C, NM_000414.3:c.1105T>C, NM_001199291.1:c.1180T>C, NM_001199292.1:c.1051T>C, XM_005271978.1:c.1033T>C, XM_005271979.1:c.694T>C, XM_005271980.1:c.694T>C, XM_005271981.1:c.685T>CVOUS12/05/2017
59HSD17B4Ex13NM_000414.3:c.1131C>Tp.Phe377= | p.F377=NM_000414.2:c.1131C>T, NM_000414.3:c.1131C>T, NM_001199291.1:c.1206C>T, NM_001199292.1:c.1077C>T, XM_005271978.1:c.1059C>T, XM_005271979.1:c.720C>T, XM_005271980.1:c.720C>T, XM_005271981.1:c.711C>TVOUS02/07/2020
60HSD17B4Ex13NM_000414.3:c.1132G>Ap.Gly378Arg | p.G378RNM_000414.2:c.1132G>A, NM_000414.3:c.1132G>A, NM_001199291.1:c.1207G>A, NM_001199292.1:c.1078G>A, XM_005271978.1:c.1060G>A, XM_005271979.1:c.721G>A, XM_005271980.1:c.721G>A, XM_005271981.1:c.712G>AVOUS12/13/2017
61HSD17B4Ex13NM_000414.3:c.1138A>Gp.Ile380Val | p.I380VNM_000414.2:c.1138A>G, NM_000414.3:c.1138A>G, NM_001199291.1:c.1213A>G, NM_001199292.1:c.1084A>G, XM_005271978.1:c.1066A>G, XM_005271979.1:c.727A>G, XM_005271980.1:c.727A>G, XM_005271981.1:c.718A>GVOUS02/01/2021
62HSD17B4Ex13NM_000414.3:c.1145G>Ap.Gly382Asp | p.G382DNM_000414.2:c.1145G>A, NM_000414.3:c.1145G>A, NM_001199291.1:c.1220G>A, NM_001199292.1:c.1091G>A, XM_005271978.1:c.1073G>A, XM_005271979.1:c.734G>A, XM_005271980.1:c.734G>A, XM_005271981.1:c.725G>AVOUS09/11/2020
63HSD17B4Ex13NM_000414.3:c.1154C>Ap.Ser385Tyr | p.S385YNM_000414.2:c.1154C>A, NM_000414.3:c.1154C>A, NM_001199291.1:c.1229C>A, NM_001199292.1:c.1100C>A, XM_005271978.1:c.1082C>A, XM_005271979.1:c.743C>A, XM_005271980.1:c.743C>A, XM_005271981.1:c.734C>AVOUS02/19/2019
64HSD17B4Ex13NM_000414.3:c.1163G>Ap.Gly388Asp | p.G388DNM_000414.2:c.1163G>A, NM_000414.3:c.1163G>A, NM_001199291.1:c.1238G>A, NM_001199292.1:c.1109G>A, XM_005271978.1:c.1091G>A, XM_005271979.1:c.752G>A, XM_005271980.1:c.752G>A, XM_005271981.1:c.743G>AVOUS08/09/2019
65HSD17B4Ex13NM_000414.3:c.1167A>Tp.Gly389= | p.G389=NM_000414.2:c.1167A>T, NM_000414.3:c.1167A>T, NM_001199291.1:c.1242A>T, NM_001199292.1:c.1113A>T, XM_005271978.1:c.1095A>T, XM_005271979.1:c.756A>T, XM_005271980.1:c.756A>T, XM_005271981.1:c.747A>TVOUS02/16/2018
66HSD17B4Ex13NM_000414.3:c.1204G>Ap.Ala402Thr | p.A402TNM_000414.2:c.1204G>A, NM_000414.3:c.1204G>A, NM_001199291.1:c.1279G>A, NM_001199292.1:c.1150G>A, XM_005271978.1:c.1132G>A, XM_005271979.1:c.793G>A, XM_005271980.1:c.793G>A, XM_005271981.1:c.784G>AVOUS05/15/2018
67HSD17B4Ex14NM_000414.3:c.1210-11C>GNM_000414.2:c.1210-11C>G, NM_000414.3:c.1210-11C>G, NM_001199291.1:c.1285-11C>G, NM_001199292.1:c.1156-11C>G, XM_005271978.1:c.1138-11C>G, XM_005271979.1:c.799-11C>G, XM_005271980.1:c.799-11C>G, XM_005271981.1:c.790-11C>GVOUS01/22/2018
68HSD17B4Ex14NM_000414.3:c.1210-8T>CNM_000414.2:c.1210-8T>C, NM_000414.3:c.1210-8T>C, NM_001199291.1:c.1285-8T>C, NM_001199292.1:c.1156-8T>C, XM_005271978.1:c.1138-8T>C, XM_005271979.1:c.799-8T>C, XM_005271980.1:c.799-8T>C, XM_005271981.1:c.790-8T>CVOUS12/21/2020
69HSD17B4Ex14NM_000414.3:c.1213C>Tp.Leu405Phe | p.L405FNM_000414.2:c.1213C>T, NM_000414.3:c.1213C>T, NM_001199291.1:c.1288C>T, NM_001199292.1:c.1159C>T, XM_005271978.1:c.1141C>T, XM_005271979.1:c.802C>T, XM_005271980.1:c.802C>T, XM_005271981.1:c.793C>TVOUS11/05/2018
70HSD17B4Ex14NM_000414.3:c.1231T>Cp.Leu411= | p.L411=NM_000414.2:c.1231T>C, NM_000414.3:c.1231T>C, NM_001199291.1:c.1306T>C, NM_001199292.1:c.1177T>C, XM_005271978.1:c.1159T>C, XM_005271979.1:c.820T>C, XM_005271980.1:c.820T>C, XM_005271981.1:c.811T>CVOUS08/06/2019
71HSD17B4Ex15NM_000414.3:c.1262-9T>CVOUS08/16/2019
72HSD17B4Ex15NM_000414.3:c.1262G>Ap.Gly421Glu | p.G421ENM_000414.2:c.1262G>A, NM_000414.3:c.1262G>A, NM_001199291.1:c.1337G>A, NM_001199292.1:c.1208G>A, XM_005271978.1:c.1190G>A, XM_005271979.1:c.851G>A, XM_005271980.1:c.851G>A, XM_005271981.1:c.842G>AVOUS05/17/2018
73HSD17B4Ex15NM_000414.3:c.1278A>Tp.Glu426Asp | p.E426DNM_000414.2:c.1278A>T, NM_000414.3:c.1278A>T, NM_001199291.1:c.1353A>T, NM_001199292.1:c.1224A>T, XM_005271978.1:c.1206A>T, XM_005271979.1:c.867A>T, XM_005271980.1:c.867A>T, XM_005271981.1:c.858A>TVOUS11/04/2019
74HSD17B4Ex15NM_000414.3:c.1280C>Tp.Ala427Val | p.A427VNM_000414.2:c.1280C>T, NM_000414.3:c.1280C>T, NM_001199291.1:c.1355C>T, NM_001199292.1:c.1226C>T, XM_005271978.1:c.1208C>T, XM_005271979.1:c.869C>T, XM_005271980.1:c.869C>T, XM_005271981.1:c.860C>TVOUS06/11/2019
75HSD17B4Ex15NM_000414.3:c.1289C>Ap.Ala430Asp | p.A430DNM_000414.2:c.1289C>A, NM_000414.3:c.1289C>A, NM_001199291.1:c.1364C>A, NM_001199292.1:c.1235C>A, XM_005271978.1:c.1217C>A, XM_005271979.1:c.878C>A, XM_005271980.1:c.878C>A, XM_005271981.1:c.869C>AVOUS02/10/2018
76HSD17B4Ex15NM_000414.3:c.1301A>Gp.Asp434Gly | p.D434GNM_000414.2:c.1301A>G, NM_000414.3:c.1301A>G, NM_001199291.1:c.1376A>G, NM_001199292.1:c.1247A>G, XM_005271978.1:c.1229A>G, XM_005271979.1:c.890A>G, XM_005271980.1:c.890A>G, XM_005271981.1:c.881A>GVOUS08/28/2015
77HSD17B4Ex15NM_000414.3:c.1311C>Tp.Ser437= | p.S437=NM_000414.2:c.1311C>T, NM_000414.3:c.1311C>T, NM_001199291.1:c.1386C>T, NM_001199292.1:c.1257C>T, XM_005271978.1:c.1239C>T, XM_005271979.1:c.900C>T, XM_005271980.1:c.900C>T, XM_005271981.1:c.891C>TVOUS12/11/2018
78HSD17B4Ex15NM_000414.3:c.1317A>Gp.Val439= | p.V439=NM_000414.2:c.1317A>G, NM_000414.3:c.1317A>G, NM_001199291.1:c.1392A>G, NM_001199292.1:c.1263A>G, XM_005271978.1:c.1245A>G, XM_005271979.1:c.906A>G, XM_005271980.1:c.906A>G, XM_005271981.1:c.897A>GVOUS07/22/2019
79HSD17B4Ex15NM_000414.3:c.1327A>Tp.Met443Leu | p.M443LNM_000414.2:c.1327A>T, NM_000414.3:c.1327A>T, NM_001199291.1:c.1402A>T, NM_001199292.1:c.1273A>T, XM_005271978.1:c.1255A>T, XM_005271979.1:c.916A>T, XM_005271980.1:c.916A>T, XM_005271981.1:c.907A>TVOUS05/22/2019
80HSD17B4Ex15NM_000414.3:c.1333+7T>GVOUS10/05/2020
81HSD17B4Ex16NM_000414.3:c.1369A>Tp.Asn457Tyr | p.N457YNM_000414.2:c.1369A>T, NM_000414.3:c.1369A>T, NM_001199291.1:c.1444A>T, NM_001199292.1:c.1315A>T, XM_005271978.1:c.1297A>T, XM_005271979.1:c.958A>T, XM_005271980.1:c.958A>T, XM_005271981.1:c.949A>TPathogenic01/16/2020 
82HSD17B4Ex16NM_000414.3:c.1398T>Gp.Ser466= | p.S466=NM_000414.2:c.1398T>G, NM_000414.3:c.1398T>G, NM_001199291.1:c.1473T>G, NM_001199292.1:c.1344T>G, XM_005271978.1:c.1326T>G, XM_005271979.1:c.987T>G, XM_005271980.1:c.987T>G, XM_005271981.1:c.978T>GVOUS03/07/2019
83HSD17B4Ex16NM_000414.3:c.1417C>Tp.Arg473Trp | p.R473WNM_000414.2:c.1417C>T, NM_000414.3:c.1417C>T, NM_001199291.1:c.1492C>T, NM_001199292.1:c.1363C>T, XM_005271978.1:c.1345C>T, XM_005271979.1:c.1006C>T, XM_005271980.1:c.1006C>T, XM_005271981.1:c.997C>TVOUS05/24/2018
84HSD17B4Ex16NM_000414.3:c.1418G>Ap.Arg473Gln | p.R473QNM_000414.2:c.1418G>A, NM_000414.3:c.1418G>A, NM_001199291.1:c.1493G>A, NM_001199292.1:c.1364G>A, XM_005271978.1:c.1346G>A, XM_005271979.1:c.1007G>A, XM_005271980.1:c.1007G>A, XM_005271981.1:c.998G>AVOUS12/14/2017
85HSD17B4Ex16NM_000414.3:c.1427A>Gp.Asp476Gly | p.D476GNM_000414.2:c.1427A>G, NM_000414.3:c.1427A>G, NM_001199291.1:c.1502A>G, NM_001199292.1:c.1373A>G, XM_005271978.1:c.1355A>G, XM_005271979.1:c.1016A>G, XM_005271980.1:c.1016A>G, XM_005271981.1:c.1007A>GVOUS07/31/2020
86HSD17B4Ex16NM_000414.3:c.1432G>Ap.Val478Ile | p.V478INM_000414.2:c.1432G>A, NM_000414.3:c.1432G>A, NM_001199291.1:c.1507G>A, NM_001199292.1:c.1378G>A, XM_005271978.1:c.1360G>A, XM_005271979.1:c.1021G>A, XM_005271980.1:c.1021G>A, XM_005271981.1:c.1012G>AVOUS07/27/2018
87HSD17B4Ex17NM_000414.3:c.1438G>Ap.Val480Ile | p.V480INM_000414.2:c.1438G>A, NM_000414.3:c.1438G>A, NM_001199291.1:c.1513G>A, NM_001199292.1:c.1384G>A, XM_005271978.1:c.1366G>A, XM_005271979.1:c.1027G>A, XM_005271980.1:c.1027G>A, XM_005271981.1:c.1018G>AVOUS07/22/2019
88HSD17B4Ex17NM_000414.3:c.1449C>Tp.Ala483= | p.A483=NM_000414.2:c.1449C>T, NM_000414.3:c.1449C>T, NM_001199291.1:c.1524C>T, NM_001199292.1:c.1395C>T, XM_005271978.1:c.1377C>T, XM_005271979.1:c.1038C>T, XM_005271980.1:c.1038C>T, XM_005271981.1:c.1029C>TVOUS08/11/2020
89HSD17B4Ex17NM_000414.3:c.1450A>Gp.Ile484Val | p.I484VNM_000414.2:c.1450A>G, NM_000414.3:c.1450A>G, NM_001199291.1:c.1525A>G, NM_001199292.1:c.1396A>G, XM_005271978.1:c.1378A>G, XM_005271979.1:c.1039A>G, XM_005271980.1:c.1039A>G, XM_005271981.1:c.1030A>GVOUS09/04/2019
90HSD17B4Ex17NM_000414.3:c.1471G>Ap.Ala491Thr | p.A491TNM_000414.2:c.1471G>A, NM_000414.3:c.1471G>A, NM_001199291.1:c.1546G>A, NM_001199292.1:c.1417G>A, XM_005271978.1:c.1399G>A, XM_005271979.1:c.1060G>A, XM_005271980.1:c.1060G>A, XM_005271981.1:c.1051G>ALikely benign03/30/2015 
91HSD17B4Ex18NM_000414.3:c.1504-5C>GVOUS01/14/2020
92HSD17B4Ex18NM_000414.3:c.1528G>Ap.Asp510Asn | p.D510NNM_000414.2:c.1528G>A, NM_000414.3:c.1528G>A, NM_001199291.1:c.1603G>A, NM_001199292.1:c.1474G>A, XM_005271978.1:c.1456G>A, XM_005271979.1:c.1117G>A, XM_005271980.1:c.1117G>A, XM_005271981.1:c.1108G>AVOUS11/28/2017
93HSD17B4Ex18NM_000414.3:c.1560T>Cp.Phe520= | p.F520=NM_000414.2:c.1560T>C, NM_000414.3:c.1560T>C, NM_001199291.1:c.1635T>C, NM_001199292.1:c.1506T>C, XM_005271978.1:c.1488T>C, XM_005271979.1:c.1149T>C, XM_005271980.1:c.1149T>C, XM_005271981.1:c.1140T>CVOUS03/08/2019
94HSD17B4Ex18NM_000414.3:c.1566T>Ap.Ser522Arg | p.S522RNM_000414.2:c.1566T>A, NM_000414.3:c.1566T>A, NM_001199291.1:c.1641T>A, NM_001199292.1:c.1512T>A, XM_005271978.1:c.1494T>A, XM_005271979.1:c.1155T>A, XM_005271980.1:c.1155T>A, XM_005271981.1:c.1146T>AVOUS08/11/2020
95HSD17B4Ex19NM_000414.3:c.1574-1G>APathogenic09/17/2020 
96HSD17B4Ex19NM_000414.3:c.1586C>Gp.Pro529Arg | p.P529RNM_000414.2:c.1586C>G, NM_000414.3:c.1586C>G, NM_001199291.1:c.1661C>G, NM_001199292.1:c.1532C>G, XM_005271978.1:c.1514C>G, XM_005271979.1:c.1175C>G, XM_005271980.1:c.1175C>G, XM_005271981.1:c.1166C>GVOUS01/12/2021
97HSD17B4Ex19NM_000414.3:c.1596T>Cp.His532= | p.H532=NM_000414.2:c.1596T>C, NM_000414.3:c.1596T>C, NM_001199291.1:c.1671T>C, NM_001199292.1:c.1542T>C, XM_005271978.1:c.1524T>C, XM_005271979.1:c.1185T>C, XM_005271980.1:c.1185T>C, XM_005271981.1:c.1176T>CVOUS09/28/2019
98HSD17B4Ex19NM_000414.3:c.1625G>Ap.Arg542Lys | p.R542KNM_000414.2:c.1625G>A, NM_000414.3:c.1625G>A, NM_001199291.1:c.1700G>A, NM_001199292.1:c.1571G>A, XM_005271978.1:c.1553G>A, XM_005271979.1:c.1214G>A, XM_005271980.1:c.1214G>A, XM_005271981.1:c.1205G>AVOUS10/06/2020
99HSD17B4Ex19NM_000414.3:c.1628G>Cp.Arg543Pro | p.R543PNM_000414.2:c.1628G>C, NM_000414.3:c.1628G>C, NM_001199291.1:c.1703G>C, NM_001199292.1:c.1574G>C, XM_005271978.1:c.1556G>C, XM_005271979.1:c.1217G>C, XM_005271980.1:c.1217G>C, XM_005271981.1:c.1208G>CVOUS12/13/2017
100HSD17B4Ex19NM_000414.3:c.1652A>Gp.Asn551Ser | p.N551SNM_000414.2:c.1652A>G, NM_000414.3:c.1652A>G, NM_001199291.1:c.1727A>G, NM_001199292.1:c.1598A>G, XM_005271978.1:c.1580A>G, XM_005271979.1:c.1241A>G, XM_005271980.1:c.1241A>G, XM_005271981.1:c.1232A>GVOUS10/17/2019
101HSD17B4Ex19NM_000414.3:c.1670A>Tp.Lys557Met | p.K557MNM_000414.2:c.1670A>T, NM_000414.3:c.1670A>T, NM_001199291.1:c.1745A>T, NM_001199292.1:c.1616A>T, XM_005271978.1:c.1598A>T, XM_005271979.1:c.1259A>T, XM_005271980.1:c.1259A>T, XM_005271981.1:c.1250A>TVOUS09/21/2020
102HSD17B4Ex19NM_000414.3:c.1675A>Gp.Ile559Val | p.I559VNM_000414.2:c.1675A>G, NM_000414.3:c.1675A>G, NM_001199291.1:c.1750A>G, NM_001199292.1:c.1621A>G, XM_005271978.1:c.1603A>G, XM_005271979.1:c.1264A>G, XM_005271980.1:c.1264A>G, XM_005271981.1:c.1255A>GBenign08/08/2017 
103HSD17B4Ex20NM_000414.3:c.1681G>Tp.Ala561Ser | p.A561SNM_000414.2:c.1681G>T, NM_000414.3:c.1681G>T, NM_001199291.1:c.1756G>T, NM_001199292.1:c.1627G>T, XM_005271978.1:c.1609G>T, XM_005271979.1:c.1270G>T, XM_005271980.1:c.1270G>T, XM_005271981.1:c.1261G>TVOUS11/05/2019
104HSD17B4Ex20NM_000414.3:c.1685G>Ap.Arg562His | p.R562HNM_000414.2:c.1685G>A, NM_000414.3:c.1685G>A, NM_001199291.1:c.1760G>A, NM_001199292.1:c.1631G>A, XM_005271978.1:c.1613G>A, XM_005271979.1:c.1274G>A, XM_005271980.1:c.1274G>A, XM_005271981.1:c.1265G>AVOUS02/01/2021
105HSD17B4Ex20NM_000414.3:c.1696_1702delCCAGTATinsAANM_000414.2:c.1696_1702delinsAA, NM_000414.3:c.1696_1702delinsAA, NM_001199291.1:c.1771_1777delinsAA, NM_001199292.1:c.1642_1648delinsAA, XM_005271978.1:c.1624_1630delinsAA, XM_005271979.1:c.1285_1291delinsAA, XM_005271980.1:c.1285_1291delinsAA, XM_005271981.1:c.1276_1282delinsAAPathogenic04/25/2016 
106HSD17B4Ex20NM_000414.3:c.1759C>Gp.Gln587Glu | p.Q587ENM_000414.2:c.1759C>G, NM_000414.3:c.1759C>G, NM_001199291.1:c.1834C>G, NM_001199292.1:c.1705C>G, XM_005271978.1:c.1687C>G, XM_005271979.1:c.1348C>G, XM_005271980.1:c.1348C>G, XM_005271981.1:c.1339C>GVOUS08/03/2020
107HSD17B4Ex20NM_000414.3:c.1767+3A>GVOUS05/08/2020
108HSD17B4Ex20NM_000414.3:c.1767+8T>CNM_000414.2:c.1767+8T>C, NM_000414.3:c.1767+8T>C, NM_001199291.1:c.1842+8T>C, NM_001199292.1:c.1713+8T>C, XM_005271978.1:c.1695+8T>C, XM_005271979.1:c.1356+8T>C, XM_005271980.1:c.1356+8T>C, XM_005271981.1:c.1347+8T>CBenign04/15/2015 
109HSD17B4Ex21NM_000414.3:c.1768-6_1768-4delCCTNM_000414.2:c.1768-6_1768-4delCCT, NM_000414.3:c.1768-6_1768-4delCCT, NM_001199291.1:c.1843-6_1843-4delCCT, NM_001199292.1:c.1714-6_1714-4delCCT, XM_005271978.1:c.1696-6_1696-4delCCT, XM_005271979.1:c.1357-6_1357-4delCCT, XM_005271980.1:c.1357-6_1357-4delCCT, XM_005271981.1:c.1348-6_1348-4delCCTVOUS10/16/2017
110HSD17B4Ex21NM_000414.3:c.1786A>Gp.Ile596Val | p.I596VNM_000414.2:c.1786A>G, NM_000414.3:c.1786A>G, NM_001199291.1:c.1861A>G, NM_001199292.1:c.1732A>G, XM_005271978.1:c.1714A>G, XM_005271979.1:c.1375A>G, XM_005271980.1:c.1375A>G, XM_005271981.1:c.1366A>GVOUS05/08/2019
111HSD17B4Ex21NM_000414.3:c.1845A>Cp.Thr615= | p.T615=NM_000414.2:c.1845A>C, NM_000414.3:c.1845A>C, NM_001199291.1:c.1920A>C, NM_001199292.1:c.1791A>C, XM_005271978.1:c.1773A>C, XM_005271979.1:c.1434A>C, XM_005271980.1:c.1434A>C, XM_005271981.1:c.1425A>CVOUS10/15/2014
112HSD17B4Ex22NM_000414.3:c.1855-9_1855-7delCGTNM_000414.2:c.1855-9_1855-7delCGT, NM_000414.3:c.1855-9_1855-7delCGT, NM_001199291.1:c.1930-9_1930-7delCGT, NM_001199292.1:c.1801-9_1801-7delCGT, XM_005271978.1:c.1783-9_1783-7delCGT, XM_005271979.1:c.1444-9_1444-7delCGT, XM_005271980.1:c.1444-9_1444-7delCGT, XM_005271981.1:c.1435-9_1435-7delCGTVOUS10/10/2017
113HSD17B4Ex22NM_000414.3:c.1855-8G>ANM_000414.2:c.1855-8G>A, NM_000414.3:c.1855-8G>A, NM_001199291.1:c.1930-8G>A, NM_001199292.1:c.1801-8G>A, XM_005271978.1:c.1783-8G>A, XM_005271979.1:c.1444-8G>A, XM_005271980.1:c.1444-8G>A, XM_005271981.1:c.1435-8G>AVOUS08/24/2017
114HSD17B4Ex22NM_000414.3:c.1857C>Tp.Gly619= | p.G619=NM_000414.2:c.1857C>T, NM_000414.3:c.1857C>T, NM_001199291.1:c.1932C>T, NM_001199292.1:c.1803C>T, XM_005271978.1:c.1785C>T, XM_005271979.1:c.1446C>T, XM_005271980.1:c.1446C>T, XM_005271981.1:c.1437C>TVOUS02/26/2021
115HSD17B4Ex22NM_000414.3:c.1858G>Ap.Gly620Arg | p.G620RNM_000414.2:c.1858G>A, NM_000414.3:c.1858G>A, NM_001199291.1:c.1933G>A, NM_001199292.1:c.1804G>A, XM_005271978.1:c.1786G>A, XM_005271979.1:c.1447G>A, XM_005271980.1:c.1447G>A, XM_005271981.1:c.1438G>AVOUS10/03/2017
116HSD17B4Ex22NM_000414.3:c.1861A>Gp.Lys621Glu | p.K621ENM_000414.2:c.1861A>G, NM_000414.3:c.1861A>G, NM_001199291.1:c.1936A>G, NM_001199292.1:c.1807A>G, XM_005271978.1:c.1789A>G, XM_005271979.1:c.1450A>G, XM_005271980.1:c.1450A>G, XM_005271981.1:c.1441A>GVOUS12/10/2019
117HSD17B4Ex22NM_000414.3:c.1864C>Tp.Leu622Phe | p.L622FNM_000414.2:c.1864C>T, NM_000414.3:c.1864C>T, NM_001199291.1:c.1939C>T, NM_001199292.1:c.1810C>T, XM_005271978.1:c.1792C>T, XM_005271979.1:c.1453C>T, XM_005271980.1:c.1453C>T, XM_005271981.1:c.1444C>TVOUS03/26/2020
118HSD17B4Ex22NM_000414.3:c.1881A>Gp.Val627= | p.V627=VOUS11/20/2019
119HSD17B4Ex22NM_000414.3:c.1897C>Tp.Arg633Cys | p.R633CNM_000414.2:c.1897C>T, NM_000414.3:c.1897C>T, NM_001199291.1:c.1972C>T, NM_001199292.1:c.1843C>T, XM_005271978.1:c.1825C>T, XM_005271979.1:c.1486C>T, XM_005271980.1:c.1486C>T, XM_005271981.1:c.1477C>TVOUS03/10/2021
120HSD17B4Ex22NM_000414.3:c.1900C>Tp.Arg634Cys | p.R634CNM_000414.2:c.1900C>T, NM_000414.3:c.1900C>T, NM_001199291.1:c.1975C>T, NM_001199292.1:c.1846C>T, XM_005271978.1:c.1828C>T, XM_005271979.1:c.1489C>T, XM_005271980.1:c.1489C>T, XM_005271981.1:c.1480C>TVOUS04/16/2019
121HSD17B4Ex22NM_000414.3:c.1970G>Ap.Gly657Asp | p.G657DNM_000414.2:c.1970G>A, NM_000414.3:c.1970G>A, NM_001199291.1:c.2045G>A, NM_001199292.1:c.1916G>A, XM_005271978.1:c.1898G>A, XM_005271979.1:c.1559G>A, XM_005271980.1:c.1559G>A, XM_005271981.1:c.1550G>AVOUS01/11/2021
122HSD17B4Ex22NM_000414.3:c.1971C>Tp.Gly657= | p.G657=NM_000414.2:c.1971C>T, NM_000414.3:c.1971C>T, NM_001199291.1:c.2046C>T, NM_001199292.1:c.1917C>T, XM_005271978.1:c.1899C>T, XM_005271979.1:c.1560C>T, XM_005271980.1:c.1560C>T, XM_005271981.1:c.1551C>TVOUS01/13/2020
123HSD17B4Ex22NM_000414.3:c.1971C>Ap.Gly657= | p.G657=NM_000414.2:c.1971C>A, NM_000414.3:c.1971C>A, NM_001199291.1:c.2046C>A, NM_001199292.1:c.1917C>A, XM_005271978.1:c.1899C>A, XM_005271979.1:c.1560C>A, XM_005271980.1:c.1560C>A, XM_005271981.1:c.1551C>AVOUS03/06/2020
124HSD17B4Ex22NM_000414.3:c.1972G>Ap.Gly658Arg | p.G658RNM_000414.2:c.1972G>A, NM_000414.3:c.1972G>A, NM_001199291.1:c.2047G>A, NM_001199292.1:c.1918G>A, XM_005271978.1:c.1900G>A, XM_005271979.1:c.1561G>A, XM_005271980.1:c.1561G>A, XM_005271981.1:c.1552G>AVOUS06/18/2020
125HSD17B4Ex22NM_000414.3:c.1977T>Cp.Asn659= | p.N659=NM_000414.2:c.1977T>C, NM_000414.3:c.1977T>C, NM_001199291.1:c.2052T>C, NM_001199292.1:c.1923T>C, XM_005271978.1:c.1905T>C, XM_005271979.1:c.1566T>C, XM_005271980.1:c.1566T>C, XM_005271981.1:c.1557T>CVOUS01/11/2021
126HSD17B4Ex23NM_000414.3:c.2018G>Cp.Gly673Ala | p.G673ANM_000414.2:c.2018G>C, NM_000414.3:c.2018G>C, NM_001199291.1:c.2093G>C, NM_001199292.1:c.1964G>C, XM_005271978.1:c.1946G>C, XM_005271979.1:c.1607G>C, XM_005271980.1:c.1607G>C, XM_005271981.1:c.1598G>CVOUS03/22/2019
127HSD17B4Ex23NM_000414.3:c.2041A>Gp.Lys681Glu | p.K681ENM_000414.2:c.2041A>G, NM_000414.3:c.2041A>G, NM_001199291.1:c.2116A>G, NM_001199292.1:c.1987A>G, XM_005271978.1:c.1969A>G, XM_005271979.1:c.1630A>G, XM_005271980.1:c.1630A>G, XM_005271981.1:c.1621A>GVOUS11/07/2017
128HSD17B4Ex23NM_000414.3:c.2081A>Gp.Asp694Gly | p.D694GNM_000414.2:c.2081A>G, NM_000414.3:c.2081A>G, NM_001199291.1:c.2156A>G, NM_001199292.1:c.2027A>G, XM_005271978.1:c.2009A>G, XM_005271979.1:c.1670A>G, XM_005271980.1:c.1670A>G, XM_005271981.1:c.1661A>GVOUS09/28/2018
129HSD17B4Ex23NM_000414.3:c.2121+7T>CNM_000414.2:c.2121+7T>C, NM_000414.3:c.2121+7T>C, NM_001199291.1:c.2196+7T>C, NM_001199292.1:c.2067+7T>C, XM_005271978.1:c.2049+7T>C, XM_005271979.1:c.1710+7T>C, XM_005271980.1:c.1710+7T>C, XM_005271981.1:c.1701+7T>CVOUS11/21/2018
130HSD17B4Ex24NM_000414.3:c.*10T>GNM_000414.2:c.*10T>G, NM_000414.3:c.*10T>G, NM_001199291.1:c.*10T>G, NM_001199292.1:c.*10T>G, XM_005271978.1:c.*10T>G, XM_005271979.1:c.*10T>G, XM_005271980.1:c.*10T>G, XM_005271981.1:c.*10T>GVOUS05/31/2017
131HSD17B4Ex24NM_000414.3:c.2122-9T>CVOUS12/24/2019
132HSD17B4Ex24NM_000414.3:c.2136C>Tp.Gly712= | p.G712=NM_000414.2:c.2136C>T, NM_000414.3:c.2136C>T, NM_001199291.1:c.2211C>T, NM_001199292.1:c.2082C>T, XM_005271978.1:c.2064C>T, XM_005271979.1:c.1725C>T, XM_005271980.1:c.1725C>T, XM_005271981.1:c.1716C>TVOUS05/07/2019
133HSD17B4Ex24NM_000414.3:c.2149A>Gp.Arg717Gly | p.R717GNM_000414.2:c.2149A>G, NM_000414.3:c.2149A>G, NM_001199291.1:c.2224A>G, NM_001199292.1:c.2095A>G, XM_005271978.1:c.2077A>G, XM_005271979.1:c.1738A>G, XM_005271980.1:c.1738A>G, XM_005271981.1:c.1729A>GVOUS06/30/2020
134HSD17B4Ex24NM_000414.3:c.2176C>Gp.Leu726Val | p.L726VNM_000414.2:c.2176C>G, NM_000414.3:c.2176C>G, NM_001199291.1:c.2251C>G, NM_001199292.1:c.2122C>G, XM_005271978.1:c.2104C>G, XM_005271979.1:c.1765C>G, XM_005271980.1:c.1765C>G, XM_005271981.1:c.1756C>GVOUS02/28/2020
135HSD17B4Ex24NM_000414.3:c.2199C>Gp.Tyr733* | p.Y733XNM_000414.2:c.2199C>G, NM_000414.3:c.2199C>G, NM_001199291.1:c.2274C>G, NM_001199292.1:c.2145C>G, XM_005271978.1:c.2127C>G, XM_005271979.1:c.1788C>G, XM_005271980.1:c.1788C>G, XM_005271981.1:c.1779C>GVOUS11/29/2018

* 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.