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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  
1MYH7Ex2NM_000257.2:c.114C>Tp.Phe38= | p.F38=LRG_384t1:c.114C>T, NM_000257.2:c.114C>T, NM_000257.3:c.114C>T, XM_005267696.1:c.114C>T, XM_005267697.1:c.114C>T, XR_245686.1:n.192C>TVOUS08/08/2017
2MYH7Ex3NM_000257.2:c.297C>Tp.Pro99= | p.P99=LRG_384t1:c.297C>T, NM_000257.2:c.297C>T, XM_005267696.1:c.297C>T, XM_005267697.1:c.297C>T, XR_245686.1:n.375C>TLikely benign03/01/2016 
3MYH7Ex6NM_000257.2:c.611G>Tp.Arg204Leu | p.R204LLRG_384t1:c.611G>T, NM_000257.2:c.611G>T, NM_000257.3:c.611G>T, XM_005267696.1:c.611G>T, XM_005267697.1:c.611G>T, XR_245686.1:n.689G>TVOUS12/03/2015
4MYH7Ex7NM_000257.2:c.714C>Tp.Asn238= | p.N238=LRG_384t1:c.714C>T, NM_000257.2:c.714C>T, NM_000257.3:c.714C>T, XM_005267696.1:c.714C>T, XM_005267697.1:c.714C>T, XR_245686.1:n.792C>TVOUS06/23/2016
5MYH7Ex11NM_000257.2:c.1000-7C>TLRG_384t1:c.1000-7C>T, NM_000257.2:c.1000-7C>T, NM_000257.3:c.1000-7C>T, XM_005267696.1:c.1000-7C>T, XM_005267697.1:c.1000-7C>T, XR_245686.1:n.1078-7C>TVOUS01/23/2017
6MYH7Ex12NM_000257.2:c.1191G>Ap.Lys397= | p.K397=NM_000257.2:c.1191G>A, XM_005267696.1:c.1191G>A, XM_005267697.1:c.1191G>A, XR_245686.1:n.1269G>AVOUS12/16/2015
7MYH7Ex13NM_000257.2:c.1357C>Tp.Arg453Cys | p.R453CLRG_384t1:c.1357C>T, NM_000257.2:c.1357C>T, NM_000257.3:c.1357C>T, XM_005267696.1:c.1357C>T, XM_005267697.1:c.1357C>T, XR_245686.1:n.1435C>TPathogenic11/13/2020 
8MYH7Ex15NM_000257.2:c.1755C>Tp.Ile585= | p.I585=NM_000257.2:c.1755C>T, XM_005267696.1:c.1755C>T, XM_005267697.1:c.1755C>T, XR_245686.1:n.1833C>TVOUS11/21/2014
9MYH7Ex17NM_000257.2:c.1988G>Ap.Arg663His | p.R663HLRG_384t1:c.1988G>A, NM_000257.2:c.1988G>A, NM_000257.3:c.1988G>A, XM_005267696.1:c.1988G>A, XM_005267697.1:c.1988G>A, XR_245686.1:n.2066G>APathogenic05/13/2019 
10MYH7Ex18NM_000257.2:c.2052G>Ap.Met684Ile | p.M684INM_000257.2:c.2052G>A, XM_005267696.1:c.2052G>A, XM_005267697.1:c.2052G>A, XR_245686.1:n.2130G>AVOUS01/05/2015
11MYH7Ex18NM_000257.2:c.2155C>Tp.Arg719Trp | p.R719WNM_000257.2:c.2155C>T, XM_005267696.1:c.2155C>T, XM_005267697.1:c.2155C>T, XR_245686.1:n.2233C>TPathogenic04/03/2015 
12MYH7Ex18NM_000257.2:c.2162+4G>ANM_000257.2:c.2162+4G>A, XM_005267696.1:c.2162+4G>A, XM_005267697.1:c.2162+4G>A, XR_245686.1:n.2240+4G>ABenign01/23/2015 
13MYH7Ex19NM_000257.2:c.2221G>Tp.Gly741Trp | p.G741WNM_000257.2:c.2221G>T, XM_005267696.1:c.2221G>T, XM_005267697.1:c.2221G>T, XR_245686.1:n.2299G>TPathogenic01/15/2015 
14MYH7Ex20NM_000257.2:c.2389G>Ap.Ala797Thr | p.A797TNM_000257.2:c.2389G>A, XM_005267696.1:c.2389G>A, XM_005267697.1:c.2389G>A, XR_245686.1:n.2467G>APathogenic01/30/2015 
15MYH7Ex21NM_000257.2:c.2472C>Tp.Val824= | p.V824=LRG_384t1:c.2472C>T, NM_000257.2:c.2472C>T, NM_000257.3:c.2472C>T, XM_005267696.1:c.2472C>T, XM_005267697.1:c.2472C>T, XR_245686.1:n.2550C>TVOUS12/10/2014
16MYH7Ex21NM_000257.2:c.2513C>Tp.Pro838Leu | p.P838LLRG_384t1:c.2513C>T, NM_000257.2:c.2513C>T, NM_000257.3:c.2513C>T, XM_005267696.1:c.2513C>T, XM_005267697.1:c.2513C>T, XR_245686.1:n.2591C>TPathogenic11/18/2013 
17MYH7Ex21NM_000257.2:c.2514G>Ap.Pro838= | p.P838=NM_000257.2:c.2514G>A, XM_005267696.1:c.2514G>A, XM_005267697.1:c.2514G>A, XR_245686.1:n.2592G>ALikely benign09/29/2015 
18MYH7Ex22NM_000257.2:c.2717A>Gp.Asp906Gly | p.D906GLRG_384t1:c.2717A>G, NM_000257.2:c.2717A>G, NM_000257.3:c.2717A>G, XM_005267696.1:c.2717A>G, XM_005267697.1:c.2717A>G, XR_245686.1:n.2795A>GPathogenic05/25/2018 
19MYH7Ex22NM_000257.2:c.2722C>Gp.Leu908Val | p.L908VNM_000257.2:c.2722C>G, p.L907VPathogenic09/16/2015 
20MYH7Ex22NM_000257.2:c.2769C>Tp.Asn923= | p.N923=LRG_384t1:c.2769C>T, NM_000257.2:c.2769C>T, NM_000257.3:c.2769C>T, XM_005267696.1:c.2769C>T, XM_005267697.1:c.2769C>T, XR_245686.1:n.2847C>TVOUS09/30/2016
21MYH7Ex22NM_000257.2:c.2890G>Cp.Val964Leu | p.V964LNM_000257.2:c.2890G>C, XM_005267696.1:c.2890G>C, XM_005267697.1:c.2890G>C, XR_245686.1:n.2968G>CVOUS04/10/2015
22MYH7Ex23NM_000257.2:c.2945T>Cp.Met982Thr | p.M982TNM_000257.2:c.2945T>C, XM_005267696.1:c.2945T>C, XM_005267697.1:c.2945T>C, XR_245686.1:n.3023T>CVOUS02/03/2016
23MYH7Ex23NM_000257.2:c.3036C>Tp.Ala1012= | p.A1012=LRG_384t1:c.3036C>T, NM_000257.2:c.3036C>T, NM_000257.3:c.3036C>T, XM_005267696.1:c.3036C>T, XM_005267697.1:c.3036C>T, XR_245686.1:n.3114C>TBenign09/28/2017 
24MYH7Ex23NM_000257.2:c.3056C>Ap.Thr1019Asn | p.T1019NNM_000257.2:c.3056C>A, XM_005267696.1:c.3056C>A, XM_005267697.1:c.3056C>A, XR_245686.1:n.3134C>AVOUS06/04/2015
25MYH7Ex24NM_000257.2:c.3153G>Ap.Ala1051= | p.A1051=NM_000257.2:c.3153G>A, NR_030624.1:n.-4209G>A, XM_002343268.1:c.*4677C>T, XM_005267696.1:c.3153G>A, XM_005267697.1:c.3153G>A, XR_245686.1:n.3231G>ABenign11/14/2014 
26MYH7Ex24NM_000257.2:c.3245+2T>CLRG_384t1:c.3245+2T>C, NM_000257.2:c.3245+2T>C, NR_030624.1:n.-4115T>C, XM_002343268.1:c.*4583A>G, XM_005267696.1:c.3245+2T>C, XM_005267697.1:c.3245+2T>C, XR_245686.1:n.3323+2T>CVOUS05/06/2016
27MYH7Ex26NM_000257.2:c.3337-3dupCNM_000257.2:c.3337-3_3337-2insC, NM_000257.2:c.3337-4_3337-3insC, NR_030624.1:n.-2174_-2173insC, NR_030624.1:n.-2175_-2174insC, XM_002343268.1:c.*2641_*2642insG, XM_002343268.1:c.*2642_*2643insG, XM_005267696.1:c.3337-3_3337-2insC, XM_005267696.1:c.3337-4_3337-3insC, XM_005267697.1:c.*794_*795insC, XM_005267697.1:c.*795_*796insC, XR_245686.1:n.3417-3_3417-2insC, XR_245686.1:n.3417-4_3417-3insCBenign10/30/2014 
28MYH7Ex26NM_000257.2:c.3351G>Ap.Glu1117= | p.E1117=NM_000257.2:c.3351G>A, NR_030624.1:n.-2157G>A, XM_002343268.1:c.*2625C>T, XM_005267696.1:c.3351G>A, XM_005267697.1:c.*812G>A, XR_245686.1:n.3431G>ALikely benign09/15/2015 
29MYH7Ex26NM_000257.2:c.3360_3371dupGGAGCTGGAGGCLRG_384t1:c.3371_3372insGGAGCTGGAGGC, NM_000257.2:c.3371_3372insGGAGCTGGAGGC, NM_000257.3:c.3371_3372insGGAGCTGGAGGC, NR_030624.1:n.-2137_-2136insGGAGCTGGAGGC, XM_002343268.1:c.*2604_*2605insGCCTCCAGCTCC, XM_005267696.1:c.3371_3372insGGAGCTGGAGGC, XM_005267697.1:c.*832_*833insGGAGCTGGAGGC, XR_245686.1:n.3451_3452insGGAGCTGGAGGCVOUS09/29/2016
30MYH7Ex26NM_000257.2:c.3667G>Ap.Glu1223Lys | p.E1223KNM_000257.2:c.3667G>A, NR_030624.1:n.-1841G>A, XM_002343268.1:c.*2309C>T, XM_005267696.1:c.3667G>A, XM_005267697.1:c.*1128G>A, XR_245686.1:n.*252G>AVOUS01/09/2015
31MYH7Ex27NM_000257.2:c.3779G>Cp.Arg1260Pro | p.R1260PNM_000257.2:c.3779G>C, NR_030624.1:n.-1494G>C, XM_002343268.1:c.*1962C>G, XM_005267696.1:c.3779G>C, XM_005267697.1:c.*1475G>C, XR_245686.1:n.*599G>CVOUS12/20/2014
32MYH7Ex29NM_000257.2:c.4075C>Tp.Arg1359Cys | p.R1359CNM_000257.2:c.4075C>T, NR_030624.1:n.-241C>T, XM_002343268.1:c.*709G>A, XM_005267696.1:c.4075C>T, XM_005267697.1:c.*2728C>T, XR_245686.1:n.*1852C>TVOUS01/20/2016
33MYH7Ex30NM_000257.2:c.4182C>Tp.Ala1394= | p.A1394=LRG_384t1:c.4182C>T, NM_000257.2:c.4182C>T, NM_000257.3:c.4182C>T, NR_030624.1:n.*313C>T, XM_002343268.1:c.*79G>A, XM_005267696.1:c.4182C>T, XM_005267697.1:c.*3358C>T, XR_245686.1:n.*2482C>TVOUS06/23/2015
34MYH7Ex30NM_000257.2:c.4353+10G>ANM_000257.2:c.4353+10G>A, NR_030624.1:n.*494G>A, XM_002343268.1:c.748-40C>T, XM_005267696.1:c.4353+10G>A, XM_005267697.1:c.*3539G>A, XR_245686.1:n.*2663G>ABenign01/23/2015 
35MYH7Ex31NM_000257.2:c.4377G>Tp.Lys1459Asn | p.K1459NNM_000257.2:c.4377G>T, NR_030624.1:n.*692G>T, XM_002343268.1:c.669C>A, XM_005267696.1:c.4377G>T, XM_005267697.1:c.*3737G>T, XR_245686.1:n.*2861G>TVOUS09/01/2014
36MYH7Ex31NM_000257.2:c.4452C>Tp.Leu1484= | p.L1484=NM_000257.2:c.4452C>T, NR_030624.1:n.*767C>T, XM_002343268.1:c.594G>A, XM_005267696.1:c.4452C>T, XM_005267697.1:c.*3812C>T, XR_245686.1:n.*2936C>TBenign01/23/2015 
37MYH7Ex31NM_000257.2:c.4472C>Gp.Ser1491Cys | p.S1491CNM_000257.2:c.4472C>G, NR_030624.1:n.*787C>G, XM_002343268.1:c.586-12G>C, XM_005267696.1:c.4472C>G, XM_005267697.1:c.*3832C>G, XR_245686.1:n.*2956C>GBenign03/12/2013 
38MYH7Ex33NM_000257.2:c.4680G>Ap.Arg1560= | p.R1560=NM_000257.2:c.4680G>A, NR_030624.1:n.*1710G>A, XM_002343268.1:c.472C>T, XM_005267696.1:c.4680G>A, XM_005267697.1:c.*4755G>A, XR_245686.1:n.*3879G>AVOUS10/28/2015
39MYH7Ex33NM_000257.2:c.4689G>Ap.Leu1563= | p.L1563=LRG_384t1:c.4689G>A, NM_000257.2:c.4689G>A, NM_000257.3:c.4689G>A, NR_030624.1:n.*1719G>A, XM_002343268.1:c.463C>T, XM_005267696.1:c.4689G>A, XM_005267697.1:c.*4764G>A, XR_245686.1:n.*3888G>AVOUS07/21/2016
40MYH7Ex33NM_000257.2:c.4788G>Ap.Ser1596= | p.S1596=NM_000257.2:c.4788G>A, NR_030624.1:n.*1818G>A, XM_002343268.1:c.364C>T, XM_005267696.1:c.4788G>A, XM_005267697.1:c.*4863G>A, XR_245686.1:n.*3987G>ABenign01/23/2015 
41MYH7Ex33NM_000257.2:c.4806C>Tp.Asp1602= | p.D1602=NM_000257.2:c.4806C>T, NR_030624.1:n.*1836C>T, XM_002343268.1:c.346G>A, XM_005267696.1:c.4806C>T, XM_005267697.1:c.*4881C>T, XR_245686.1:n.*4005C>TLikely benign08/14/2014 
42MYH7Ex34NM_000257.2:c.4974C>Tp.Asp1658= | p.D1658=LRG_384t1:c.4974C>T, NM_000257.2:c.4974C>T, NM_000257.3:c.4974C>T, NR_030624.1:n.*2175C>T, XM_002343268.1:c.178G>A, XM_005267696.1:c.4974C>T, XR_245686.1:n.*4344C>TBenign03/01/2018 
43MYH7Ex34NM_000257.2:c.5106G>Ap.Ala1702= | p.A1702=LRG_384t1:c.5106G>A, NM_000257.2:c.5106G>A, NM_000257.3:c.5106G>A, NR_030624.1:n.*2307G>A, XM_002343268.1:c.46C>T, XM_005267696.1:c.5106G>A, XR_245686.1:n.*4476G>ABenign09/18/2019 
44MYH7Ex36NM_000257.2:c.5287G>Ap.Ala1763Thr | p.A1763TNM_000257.2:c.5287G>A, NR_030624.1:n.*2720G>A, XM_002343268.1:c.-249C>T, XM_005267696.1:c.5287G>A, XR_245686.1:n.*4889G>AVOUS03/05/2015
45MYH7Ex36NM_000257.2:c.5361A>Gp.Glu1787= | p.E1787=NM_000257.2:c.5361A>G, NR_030624.1:n.*2794A>G, XM_002343268.1:c.-323T>C, XM_005267696.1:c.5361A>G, XR_245686.1:n.*4963A>GBenign12/09/2015 
46MYH7Ex36NM_000257.2:c.5452C>Tp.Arg1818Trp | p.R1818WLRG_384t1:c.5452C>T, NM_000257.2:c.5452C>T, NM_000257.3:c.5452C>T, NR_030624.1:n.*2885C>T, XM_002343268.1:c.-414G>A, XM_005267696.1:c.5452C>TVOUS08/18/2016
47MYH7Ex36NM_000257.2:c.5458C>Tp.Arg1820Trp | p.R1820WLRG_384t1:c.5458C>T, NM_000257.2:c.5458C>T, NM_000257.3:c.5458C>T, NR_030624.1:n.*2891C>T, XM_002343268.1:c.-420G>A, XM_005267696.1:c.5458C>TVOUS08/18/2016
48MYH7Ex38NM_000257.2:c.5656-8dupTNM_000257.2:c.5656-8_5656-7insT, NR_030624.1:n.*4086_*4087insT, XM_002343268.1:c.-1616_-1615insA, XM_005267694.1:c.-4289_-4288insT, XM_005267695.1:c.-4289_-4288insT, XM_005267696.1:c.5656-8_5656-7insTVOUS08/10/2015
49MYH7Ex38NM_000257.2:c.5736C>Tp.Ile1912= | p.I1912=LRG_384t1:c.5736C>T, NM_000257.2:c.5736C>T, NM_000257.3:c.5736C>T, NR_030624.1:n.*4174C>T, XM_002343268.1:c.-1703G>A, XM_005267694.1:c.-4201C>T, XM_005267695.1:c.-4201C>T, XM_005267696.1:c.5736C>TLikely benign08/16/2018 
50MYH7Ex5NM_000257.3:c.428G>Ap.Arg143Gln | p.R143QLRG_384t1:c.428G>A, NM_000257.2:c.428G>A, NM_000257.3:c.428G>A, XM_005267696.1:c.428G>A, XM_005267697.1:c.428G>A, XR_245686.1:n.506G>ALikely pathogenic03/19/2019 
51MYH7Ex11NM_000257.3:c.958G>Ap.Val320Met | p.V320MLRG_384t1:c.958G>A, NM_000257.2:c.958G>A, NM_000257.3:c.958G>A, XM_005267696.1:c.958G>A, XM_005267697.1:c.958G>A, XR_245686.1:n.1036G>ALikely pathogenic03/07/2020 
52MYH7Ex14NM_000257.3:c.1357C>Tp.Arg453Cys | p.R453CLRG_384t1:c.1357C>T, NM_000257.2:c.1357C>T, NM_000257.3:c.1357C>T, XM_005267696.1:c.1357C>T, XM_005267697.1:c.1357C>T, XR_245686.1:n.1435C>TPathogenic11/13/2020 
53MYH7Ex16NM_000257.3:c.1727A>Gp.His576Arg | p.H576RLRG_384t1:c.1727A>G, NM_000257.2:c.1727A>G, NM_000257.3:c.1727A>G, XM_005267696.1:c.1727A>G, XM_005267697.1:c.1727A>G, XR_245686.1:n.1805A>GLikely pathogenic03/07/2020 
54MYH7Ex23NM_000257.3:c.2717A>Gp.Asp906Gly | p.D906GLRG_384t1:c.2717A>G, NM_000257.2:c.2717A>G, NM_000257.3:c.2717A>G, XM_005267696.1:c.2717A>G, XM_005267697.1:c.2717A>G, XR_245686.1:n.2795A>GPathogenic08/21/2019 
55MYH7Ex30NM_000257.3:c.4005G>Ap.Ser1335= | p.S1335=LRG_384t1:c.4005G>A, NM_000257.2:c.4005G>A, NM_000257.3:c.4005G>A, NR_030624.1:n.-311G>A, XM_002343268.1:c.*779C>T, XM_005267696.1:c.4005G>A, XM_005267697.1:c.*2658G>A, XR_245686.1:n.*1782G>ALikely benign03/31/2020 
56MYH7Ex34NM_000257.3:c.4716C>Tp.Ile1572= | p.I1572=LRG_384t1:c.4716C>T, NM_000257.2:c.4716C>T, NM_000257.3:c.4716C>T, NR_030624.1:n.*1746C>T, XM_002343268.1:c.436G>A, XM_005267696.1:c.4716C>T, XM_005267697.1:c.*4791C>T, XR_245686.1:n.*3915C>TBenign03/31/2020 
57MYH7BEx12NM_020884.3:c.806A>Gp.Asn269Ser | p.N269SNM_020884.2:c.806A>G, NM_020884.3:c.806A>G, XM_005260472.1:c.806A>G, XM_005260473.1:c.644A>GVOUS03/28/2018
58MYH7BEx40NM_020884.3:c.5332A>Cp.Lys1778Gln | p.K1778QNM_015638.2:c.*2351T>G, NM_020884.2:c.5332A>C, NM_020884.3:c.5332A>C, NM_199368.1:c.*2351T>G, XM_005260392.1:c.*2351T>G, XM_005260472.1:c.5332A>C, XM_005260473.1:c.5170A>CVOUS03/28/2018
59MYH7BEx13NM_020884.4:c.917C>Tp.Ala306Val | p.A306VNM_020884.2:c.917C>T, NM_020884.3:c.917C>T, XM_005260472.1:c.917C>T, XM_005260473.1:c.755C>TVOUS08/08/2019
60MYH7BEx35NM_020884.4:c.4272C>Tp.Tyr1424= | p.Y1424=NM_015638.2:c.*4275G>A, NM_020884.2:c.4272C>T, NM_020884.3:c.4272C>T, NM_199368.1:c.*4275G>A, XM_005260392.1:c.*4275G>A, XM_005260472.1:c.4272C>T, XM_005260473.1:c.4110C>TVOUS08/08/2019

* 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.