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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  
1SMARCAL1Ex3NM_014140.3:c.114G>Tp.Ser38= | p.S38=LRG_108t1:c.114G>T, NM_001127207.1:c.114G>T, NM_014140.3:c.114G>T, XM_005246631.1:c.114G>T, XM_005246632.1:c.114G>TVOUS01/19/2017
2SMARCAL1Ex3NM_014140.3:c.272G>Tp.Ser91Ile | p.S91ILRG_108t1:c.272G>T, NM_001127207.1:c.272G>T, NM_014140.3:c.272G>T, XM_005246631.1:c.272G>T, XM_005246632.1:c.272G>TVOUS05/22/2019
3SMARCAL1Ex3NM_014140.3:c.340C>Gp.Arg114Gly | p.R114GNM_001127207.1:c.340C>G, NM_014140.3:c.340C>G, XM_005246631.1:c.340C>G, XM_005246632.1:c.340C>GVOUS12/12/2014
4SMARCAL1Ex3NM_014140.3:c.341G>Ap.Arg114His | p.R114HNM_001127207.1:c.341G>A, NM_014140.3:c.341G>A, XM_005246631.1:c.341G>A, XM_005246632.1:c.341G>ABenign01/28/2015 
5SMARCAL1Ex3NM_014140.3:c.415_416delTTp.Leu139Glufs*3 | p.L139EfsX3LRG_108t1:c.415_416delTT, NM_001127207.1:c.415_416delTT, NM_014140.3:c.415_416delTT, XM_005246631.1:c.415_416delTT, XM_005246632.1:c.415_416delTTPathogenic09/17/2018 
6SMARCAL1Ex3NM_014140.3:c.506A>Gp.Lys169Arg | p.K169RLRG_108t1:c.506A>G, NM_001127207.1:c.506A>G, NM_014140.3:c.506A>G, XM_005246631.1:c.506A>G, XM_005246632.1:c.506A>GVOUS10/06/2016
7SMARCAL1Ex3NM_014140.3:c.527C>Gp.Thr176Arg | p.T176RNM_001127207.1:c.527C>G, NM_014140.3:c.527C>G, XM_005246631.1:c.527C>G, XM_005246632.1:c.527C>GVOUS09/04/2015
8SMARCAL1Ex3NM_014140.3:c.527C>Tp.Thr176Ile | p.T176ILRG_108t1:c.527C>T, NM_001127207.1:c.527C>T, NM_014140.3:c.527C>T, XM_005246631.1:c.527C>T, XM_005246632.1:c.527C>TVOUS04/02/2021
9SMARCAL1Ex3NM_014140.3:c.603G>Cp.Gly201= | p.G201=LRG_108t1:c.603G>C, NM_001127207.1:c.603G>C, NM_014140.3:c.603G>C, XM_005246631.1:c.603G>C, XM_005246632.1:c.603G>CLikely benign04/26/2019 
10SMARCAL1Ex3NM_014140.3:c.675G>Ap.Lys225= | p.K225=NM_001127207.1:c.675G>A, NM_014140.3:c.675G>A, XM_005246631.1:c.675G>A, XM_005246632.1:c.675G>AVOUS12/09/2014
11SMARCAL1Ex3NM_014140.3:c.810T>Cp.Tyr270= | p.Y270=NM_001127207.1:c.810T>C, NM_014140.3:c.810T>C, XM_005246631.1:c.810T>C, XM_005246632.1:c.810T>CVOUS12/22/2015
12SMARCAL1Ex5NM_014140.3:c.863-9C>GLRG_108t1:c.863-9C>G, NM_001127207.1:c.863-9C>G, NM_014140.3:c.863-9C>G, XM_005246631.1:c.863-9C>G, XM_005246632.1:c.863-9C>GVOUS10/20/2017
13SMARCAL1Ex5NM_014140.3:c.927C>Tp.Ser309= | p.S309=LRG_108t1:c.927C>T, NM_001127207.1:c.927C>T, NM_014140.3:c.927C>T, XM_005246631.1:c.927C>T, XM_005246632.1:c.927C>TVOUS11/17/2016
14SMARCAL1Ex5NM_014140.3:c.945C>Gp.Ser315Arg | p.S315RLRG_108t1:c.945C>G, NM_001127207.1:c.945C>G, NM_014140.3:c.945C>G, XM_005246631.1:c.945C>G, XM_005246632.1:c.945C>GBenign01/27/2015 
15SMARCAL1Ex5NM_014140.3:c.960C>Tp.Ala320= | p.A320=NM_001127207.1:c.960C>T, NM_014140.3:c.960C>T, XM_005246631.1:c.960C>T, XM_005246632.1:c.960C>TBenign01/28/2015 
16SMARCAL1Ex5NM_014140.3:c.962G>Ap.Gly321Asp | p.G321DLRG_108t1:c.962G>A, NM_001127207.1:c.962G>A, NM_014140.3:c.962G>A, XM_005246631.1:c.962G>A, XM_005246632.1:c.962G>AVOUS05/29/2019
17SMARCAL1Ex5NM_014140.3:c.1001G>Ap.Arg334Gln | p.R334QNM_001127207.1:c.1001G>A, NM_014140.3:c.1001G>A, XM_005246631.1:c.1001G>A, XM_005246632.1:c.1001G>AVOUS07/28/2015
18SMARCAL1Ex6NM_014140.3:c.1128G>Ap.Leu376= | p.L376=LRG_108t1:c.1128G>A, NM_001127207.1:c.1128G>A, NM_014140.3:c.1128G>A, XM_005246631.1:c.1128G>A, XM_005246632.1:c.1128G>AVOUS06/09/2015
19SMARCAL1Ex6NM_014140.3:c.1129G>Cp.Glu377Gln | p.E377QNM_001127207.1:c.1129G>C, NM_014140.3:c.1129G>C, XM_005246631.1:c.1129G>C, XM_005246632.1:c.1129G>CBenign10/21/2014 
20SMARCAL1Ex7NM_014140.3:c.1196C>Tp.Thr399Met | p.T399MLRG_108t1:c.1196C>T, NM_001127207.1:c.1196C>T, NM_014140.3:c.1196C>T, XM_005246631.1:c.1196C>T, XM_005246632.1:c.1196C>TVOUS03/25/2019
21SMARCAL1Ex7NM_014140.3:c.1212G>Ap.Ala404= | p.A404=LRG_108t1:c.1212G>A, NM_001127207.1:c.1212G>A, NM_014140.3:c.1212G>A, XM_005246631.1:c.1212G>A, XM_005246632.1:c.1212G>ALikely benign01/22/2019 
22SMARCAL1Ex7NM_014140.3:c.1251G>Ap.Thr417= | p.T417=LRG_108t1:c.1251G>A, NM_001127207.1:c.1251G>A, NM_014140.3:c.1251G>A, XM_005246631.1:c.1251G>A, XM_005246632.1:c.1251G>AVOUS10/03/2018
23SMARCAL1Ex7NM_014140.3:c.1271A>Tp.Asp424Val | p.D424VLRG_108t1:c.1271A>T, NM_001127207.1:c.1271A>T, NM_014140.3:c.1271A>T, XM_005246631.1:c.1271A>T, XM_005246632.1:c.1271A>TLikely benign09/21/2015 
24SMARCAL1Ex8NM_014140.3:c.1427G>Ap.Arg476Gln | p.R476QLRG_108t1:c.1427G>A, NM_001127207.1:c.1427G>A, NM_014140.3:c.1427G>A, XM_005246631.1:c.1427G>A, XM_005246632.1:c.1427G>AVOUS07/28/2015
25SMARCAL1Ex8NM_014140.3:c.1485+10C>TNM_001127207.1:c.1485+10C>T, NM_014140.3:c.1485+10C>T, XM_005246631.1:c.1485+10C>T, XM_005246632.1:c.1485+10C>TVOUS06/15/2015
26SMARCAL1Ex9NM_014140.3:c.1496G>Ap.Arg499Gln | p.R499QLRG_108t1:c.1496G>A, NM_001127207.1:c.1496G>A, NM_014140.3:c.1496G>A, XM_005246631.1:c.1496G>A, XM_005246632.1:c.1496G>AVOUS12/13/2016
27SMARCAL1Ex11NM_014140.3:c.1732T>Cp.Leu578= | p.L578=VOUS12/16/2019
28SMARCAL1Ex11NM_014140.3:c.1762G>Ap.Ala588Thr | p.A588TLRG_108t1:c.1762G>A, NM_001127207.1:c.1762G>A, NM_014140.3:c.1762G>A, XM_005246631.1:c.1762G>A, XM_005246632.1:c.1762G>AVOUS09/01/2016
29SMARCAL1Ex11NM_014140.3:c.1775C>Gp.Thr592Arg | p.T592RLRG_108t1:c.1775C>G, NM_001127207.1:c.1775C>G, NM_014140.3:c.1775C>G, XM_005246631.1:c.1775C>G, XM_005246632.1:c.1775C>GVOUS12/13/2016
30SMARCAL1Ex11NM_014140.3:c.1786G>Ap.Ala596Thr | p.A596TNM_001127207.1:c.1786G>A, NM_014140.3:c.1786G>A, XM_005246631.1:c.1786G>A, XM_005246632.1:c.1786G>AVOUS10/20/2014
31SMARCAL1Ex11NM_014140.3:c.1851+5G>ALRG_108t1:c.1851+5G>A, NM_001127207.1:c.1851+5G>A, NM_014140.3:c.1851+5G>A, XM_005246631.1:c.1851+5G>A, XM_005246632.1:c.1851+5G>AVOUS04/05/2019
32SMARCAL1Ex12NM_014140.3:c.1995C>Tp.Ala665= | p.A665=LRG_108t1:c.1995C>T, NM_001127207.1:c.1995C>T, NM_014140.3:c.1995C>T, XM_005246631.1:c.1995C>T, XM_005246632.1:c.1995C>TLikely benign11/13/2015 
33SMARCAL1Ex14NM_014140.3:c.2201A>Gp.His734Arg | p.H734RLRG_108t1:c.2201A>G, NM_001127207.1:c.2201A>G, NM_014140.3:c.2201A>G, XM_005246631.1:c.2201A>G, XM_005246632.1:c.2201A>GVOUS03/15/2016
34SMARCAL1Ex14NM_014140.3:c.2225C>Tp.Thr742Met | p.T742MLRG_108t1:c.2225C>T, NM_001127207.1:c.2225C>T, NM_014140.3:c.2225C>T, XM_005246631.1:c.2225C>T, XM_005246632.1:c.2225C>TVOUS06/21/2019
35SMARCAL1Ex15NM_014140.3:c.2321C>Tp.Ser774Leu | p.S774LLRG_108t1:c.2321C>T, NM_001127207.1:c.2321C>T, NM_014140.3:c.2321C>T, XM_005246631.1:c.2321C>T, XM_005246632.1:c.2321C>TVOUS08/23/2016
36SMARCAL1Ex15NM_014140.3:c.2322G>Ap.Ser774= | p.S774=LRG_108t1:c.2322G>A, NM_001127207.1:c.2322G>A, NM_014140.3:c.2322G>A, XM_005246631.1:c.2322G>A, XM_005246632.1:c.2322G>AVOUS06/10/2016
37SMARCAL1Ex15NM_014140.3:c.2340C>Tp.Ala780= | p.A780=NM_001127207.1:c.2340C>T, NM_014140.3:c.2340C>T, XM_005246631.1:c.2340C>T, XM_005246632.1:c.2340C>TVOUS08/13/2015
38SMARCAL1Ex15NM_014140.3:c.2427+9C>TLRG_108t1:c.2427+9C>T, NM_001127207.1:c.2427+9C>T, NM_014140.3:c.2427+9C>T, XM_005246631.1:c.2427+9C>T, XM_005246632.1:c.2427+9C>TVOUS04/20/2017
39SMARCAL1Ex16NM_014140.3:c.2449C>Ap.Arg817Ser | p.R817SNM_001127207.1:c.2449C>A, NM_014140.3:c.2449C>A, XM_005246631.1:c.2449C>A, XM_005246632.1:c.2449C>AVOUS02/27/2015
40SMARCAL1Ex16NM_014140.3:c.2528+5G>CLRG_108t1:c.2528+5G>C, NM_001127207.1:c.2528+5G>C, NM_014140.3:c.2528+5G>C, XM_005246631.1:c.2528+5G>C, XM_005246632.1:c.2528+5G>CVOUS04/03/2018
41SMARCAL1Ex17NM_014140.3:c.2529-4A>GNM_001127207.1:c.2529-4A>G, NM_014140.3:c.2529-4A>G, XM_005246631.1:c.2529-4A>G, XM_005246632.1:c.2529-4A>GVOUS11/30/2015
42SMARCAL1Ex18NM_014140.3:c.2712G>Ap.Glu904= | p.E904=LRG_108t1:c.2712G>A, NM_001127207.1:c.2712G>A, NM_014140.3:c.2712G>A, XM_005246631.1:c.2712G>A, XM_005246632.1:c.2712G>A, XR_108428.1:n.*3788C>T, XR_108428.2:n.*3788C>T, XR_241403.1:n.*3566C>TVOUS04/05/2019
43SMARCAL1Ex18NM_014140.3:c.2745T>Cp.Ser915= | p.S915=LRG_108t1:c.2745T>C, NM_001127207.1:c.2745T>C, NM_014140.3:c.2745T>C, XM_005246631.1:c.2745T>C, XM_005246632.1:c.2745T>C, XR_108428.1:n.*3755A>G, XR_108428.2:n.*3755A>G, XR_241403.1:n.*3533A>GVOUS07/14/2016
44SMARCAL1Ex18NM_014140.3:c.2765T>Cp.Met922Thr | p.M922TNM_001127207.1:c.2765T>C, NM_014140.3:c.2765T>C, XM_005246631.1:c.2765T>C, XM_005246632.1:c.2765T>C, XR_108428.1:n.*3735A>G, XR_108428.2:n.*3735A>G, XR_241403.1:n.*3513A>GVOUS08/11/2015
45SMARCAL1Ex18NM_014140.3:c.2778G>Ap.Leu926= | p.L926=NM_001127207.1:c.2778G>A, NM_014140.3:c.2778G>A, XM_005246631.1:c.2778G>A, XM_005246632.1:c.2778G>A, XR_108428.1:n.*3722C>T, XR_108428.2:n.*3722C>T, XR_241403.1:n.*3500C>TVOUS08/04/2015

* 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.