MYLK3 — 1007 ClinVar variants
All ClinVar germline MYLK3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 545 flagged for review →
1 Likely pathogenic · 24 Conflicting · 19 Benign · 3 Benign/Likely benign · 318 Likely benign · 642 Uncertain significance
Full MYLK3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 545
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 20
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- MYLK3 p.Ala105Val Conflicting Single submitter
- MYLK3 p.Ala194Val Conflicting Single submitter
- MYLK3 p.Ala201Val Conflicting Single submitter
- MYLK3 p.Ala217Thr Conflicting Single submitter
- MYLK3 p.Arg145His Conflicting Single submitter
- MYLK3 p.Arg145Ser Conflicting Single submitter
- MYLK3 p.Arg71Gln Conflicting Single submitter
- MYLK3 p.Asp435His Conflicting Single submitter
- MYLK3 p.Asp79Glu Conflicting Single submitter
- MYLK3 p.Glu417Lys Conflicting Single submitter
- MYLK3 p.Glu768Ala Conflicting Single submitter
- MYLK3 p.Gly12Glu Conflicting Single submitter
- MYLK3 p.Gly379Arg Conflicting Single submitter
- MYLK3 p.Ile339Leu Conflicting Single submitter
- MYLK3 p.Met348Leu Conflicting Single submitter
- MYLK3 p.Pro402Leu Conflicting Single submitter
- MYLK3 p.Pro75Leu Conflicting Single submitter
- MYLK3 p.Thr302Met Conflicting Single submitter
- MYLK3 p.Thr426Met Conflicting Single submitter
- MYLK3 p.Thr537Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 477
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 477
- MYLK3 p.Ala104Val Uncertain significance Multiple submitters
-
MYLK3 p.Ala138Val
Uncertain significance
Multiple submitters
familial dilated cardiomyopathy
- MYLK3 p.Ala209Val Uncertain significance Multiple submitters
- MYLK3 p.Ala320Gly Uncertain significance Multiple submitters
- MYLK3 p.Ala368Asp Uncertain significance Multiple submitters
- MYLK3 p.Ala384Val Uncertain significance Multiple submitters
- MYLK3 p.Ala414Glu Uncertain significance Multiple submitters
- MYLK3 p.Ala431Pro Uncertain significance Multiple submitters
- MYLK3 p.Ala464Thr Uncertain significance Multiple submitters
- MYLK3 p.Ala480Thr Uncertain significance Multiple submitters
- MYLK3 p.Ala511Val Uncertain significance Multiple submitters
- MYLK3 p.Ala551Thr Uncertain significance Multiple submitters
- MYLK3 p.Ala777Ser Uncertain significance Multiple submitters
- MYLK3 p.Arg145Cys Uncertain significance Multiple submitters
- MYLK3 p.Arg163Gln Uncertain significance Multiple submitters
- MYLK3 p.Arg380His Uncertain significance Multiple submitters
- MYLK3 p.Arg500Trp Uncertain significance Multiple submitters
- MYLK3 p.Arg525Trp Uncertain significance Multiple submitters
- MYLK3 p.Arg554Pro Uncertain significance Multiple submitters
- MYLK3 p.Arg661Gly Uncertain significance Multiple submitters
- MYLK3 p.Arg71Trp Uncertain significance Multiple submitters
- MYLK3 p.Arg749Gln Uncertain significance Multiple submitters
- MYLK3 p.Arg783His Uncertain significance Multiple submitters
- MYLK3 p.Asn726His Uncertain significance Multiple submitters
- MYLK3 p.Asp122His Uncertain significance Multiple submitters
- MYLK3 p.Asp343Gly Uncertain significance Multiple submitters
- MYLK3 p.Cys381Phe Uncertain significance Multiple submitters
- MYLK3 p.Gln143Glu Uncertain significance Multiple submitters
- MYLK3 p.Gln446His Uncertain significance Multiple submitters
- MYLK3 p.Glu112Gln Uncertain significance Multiple submitters
- MYLK3 p.Glu186Gln Uncertain significance Multiple submitters
- MYLK3 p.Glu190Asp Uncertain significance Multiple submitters
- MYLK3 p.Glu252Val Uncertain significance Multiple submitters
- MYLK3 p.Glu423Lys Uncertain significance Multiple submitters
- MYLK3 p.Glu481Lys Uncertain significance Multiple submitters
- MYLK3 p.Glu514Val Uncertain significance Multiple submitters
- MYLK3 p.Glu560Lys Uncertain significance Multiple submitters
- MYLK3 p.Glu590Gln Uncertain significance Multiple submitters
- MYLK3 p.Glu622Lys Uncertain significance Multiple submitters
- MYLK3 p.Glu768Gln Uncertain significance Multiple submitters
- MYLK3 p.Glu95Lys Uncertain significance Multiple submitters
- MYLK3 p.Gly169Arg Uncertain significance Multiple submitters
- MYLK3 p.Gly283Arg Uncertain significance Multiple submitters
- MYLK3 p.Gly283Cys Uncertain significance Multiple submitters
- MYLK3 p.Gly287Glu Uncertain significance Multiple submitters
- MYLK3 p.Gly317Arg Uncertain significance Multiple submitters
- MYLK3 p.Gly354Asp Uncertain significance Multiple submitters
- MYLK3 p.Gly594Arg Uncertain significance Multiple submitters
- MYLK3 p.Gly77Arg Uncertain significance Multiple submitters
- MYLK3 p.His438Gln Uncertain significance Multiple submitters
- MYLK3 p.His518Tyr Uncertain significance Multiple submitters
- MYLK3 p.His583Asp Uncertain significance Multiple submitters
- MYLK3 p.His607Asn Uncertain significance Multiple submitters
- MYLK3 p.His607Gln Uncertain significance Multiple submitters
- MYLK3 p.His650Arg Uncertain significance Multiple submitters
- MYLK3 p.Ile339Thr Uncertain significance Multiple submitters
- MYLK3 p.Ile563Val Uncertain significance Multiple submitters
- MYLK3 p.Ile642Met Uncertain significance Multiple submitters
- MYLK3 p.Ile655Val Uncertain significance Multiple submitters
- MYLK3 p.Ile794Val Uncertain significance Multiple submitters
- MYLK3 p.Ile84Thr Uncertain significance Multiple submitters
- MYLK3 p.Leu264Phe Uncertain significance Multiple submitters
- MYLK3 p.Lys249Thr Uncertain significance Multiple submitters
- MYLK3 p.Met342Ile Uncertain significance Multiple submitters
- MYLK3 p.Met695Thr Uncertain significance Multiple submitters
- MYLK3 p.Pro187Thr Uncertain significance Multiple submitters
- MYLK3 p.Pro223Leu Uncertain significance Multiple submitters
- MYLK3 p.Pro237Ala Uncertain significance Multiple submitters
- MYLK3 p.Pro365Ala Uncertain significance Multiple submitters
- MYLK3 p.Pro467Leu Uncertain significance Multiple submitters
- MYLK3 p.Pro491Thr Uncertain significance Multiple submitters
- MYLK3 p.Pro496Thr Uncertain significance Multiple submitters
- MYLK3 p.Pro639Ala Uncertain significance Multiple submitters
- MYLK3 p.Pro639Leu Uncertain significance Multiple submitters
- MYLK3 p.Ser152Asn Uncertain significance Multiple submitters
- MYLK3 p.Ser289Leu Uncertain significance Multiple submitters
- MYLK3 p.Ser433Asn Uncertain significance Multiple submitters
- MYLK3 p.Ser450Ile Uncertain significance Multiple submitters
- MYLK3 p.Ser584Asn Uncertain significance Multiple submitters
- MYLK3 p.Thr244Ala Uncertain significance Multiple submitters
- MYLK3 p.Thr735Ile Uncertain significance Multiple submitters
- MYLK3 p.Thr762Ile Uncertain significance Multiple submitters
- MYLK3 p.Trp729Arg Uncertain significance Multiple submitters
- MYLK3 p.Tyr804His Uncertain significance Multiple submitters
- MYLK3 p.Val174Gly Uncertain significance Multiple submitters
- MYLK3 p.Val221Ile Uncertain significance Multiple submitters
- MYLK3 p.Val271Asp Uncertain significance Multiple submitters
- MYLK3 p.Val280Ile Uncertain significance Multiple submitters
- MYLK3 p.Val485Met Uncertain significance Multiple submitters
- MYLK3 p.Val592Met Uncertain significance Multiple submitters
- MYLK3 p.Val645Ile Uncertain significance Multiple submitters
- MYLK3 p.Val747Leu Uncertain significance Multiple submitters
- MYLK3 p.Val752Ile Uncertain significance Multiple submitters
- MYLK3 p.Ala120Val Uncertain significance Single submitter
- MYLK3 p.Ala124Thr Uncertain significance Single submitter
- MYLK3 p.Ala124Val Uncertain significance Single submitter
- MYLK3 p.Ala126Thr Uncertain significance Single submitter
- MYLK3 p.Ala126Val Uncertain significance Single submitter
- MYLK3 p.Ala138Glu Uncertain significance Single submitter
- MYLK3 p.Ala209Glu Uncertain significance Single submitter
- MYLK3 p.Ala214Ser Uncertain significance Single submitter
- MYLK3 p.Ala235Glu Uncertain significance Single submitter
- MYLK3 p.Ala235Gly Uncertain significance Single submitter
- MYLK3 p.Ala235Thr Uncertain significance Single submitter
- MYLK3 p.Ala248Asp Uncertain significance Single submitter
- MYLK3 p.Ala250Asp Uncertain significance Single submitter
- MYLK3 p.Ala250Gly Uncertain significance Single submitter
- MYLK3 p.Ala288Thr Uncertain significance Single submitter
- MYLK3 p.Ala320Pro Uncertain significance Single submitter
- MYLK3 p.Ala322Thr Uncertain significance Single submitter
- MYLK3 p.Ala324Glu Uncertain significance Single submitter
- MYLK3 p.Ala364Ser Uncertain significance Single submitter
- MYLK3 p.Ala366Ser Uncertain significance Single submitter
- MYLK3 p.Ala368Val Uncertain significance Single submitter
- MYLK3 p.Ala384Asp Uncertain significance Single submitter
- MYLK3 p.Ala420Ser Uncertain significance Single submitter
- MYLK3 p.Ala442Ser Uncertain significance Single submitter
- MYLK3 p.Ala442Thr Uncertain significance Single submitter
- MYLK3 p.Ala453Thr Uncertain significance Single submitter
- MYLK3 p.Ala453Val Uncertain significance Single submitter
- MYLK3 p.Ala464Val Uncertain significance Single submitter
- MYLK3 p.Ala466Gly Uncertain significance Single submitter
- MYLK3 p.Ala470Ser Uncertain significance Single submitter
- MYLK3 p.Ala470Thr Uncertain significance Single submitter
- MYLK3 p.Ala470Val Uncertain significance Single submitter
- MYLK3 p.Ala472Glu Uncertain significance Single submitter
- MYLK3 p.Ala511Glu Uncertain significance Single submitter
- MYLK3 p.Ala680Thr Uncertain significance Single submitter
- MYLK3 p.Ala69Asp Uncertain significance Single submitter
- MYLK3 p.Ala69Thr Uncertain significance Single submitter
- MYLK3 p.Ala761Asp Uncertain significance Single submitter
- MYLK3 p.Ala775Asp Uncertain significance Single submitter
- MYLK3 p.Ala777Thr Uncertain significance Single submitter
- MYLK3 p.Ala795Thr Uncertain significance Single submitter
- MYLK3 p.Ala795Val Uncertain significance Single submitter
- MYLK3 p.Ala809Thr Uncertain significance Single submitter
- MYLK3 p.Ala809Val Uncertain significance Single submitter
- MYLK3 p.Ala88Val Uncertain significance Single submitter
- MYLK3 p.Arg110Ser Uncertain significance Single submitter
- MYLK3 p.Arg116Lys Uncertain significance Single submitter
- MYLK3 p.Arg123Gly Uncertain significance Single submitter
- MYLK3 p.Arg123Lys Uncertain significance Single submitter
- MYLK3 p.Arg145Leu Uncertain significance Single submitter
- MYLK3 p.Arg150Lys Uncertain significance Single submitter
- MYLK3 p.Arg292Met Uncertain significance Single submitter
- MYLK3 p.Arg292Ser Uncertain significance Single submitter
- MYLK3 p.Arg353Gly Uncertain significance Single submitter
- MYLK3 p.Arg380Cys Uncertain significance Single submitter
- MYLK3 p.Arg380Gly Uncertain significance Single submitter
- MYLK3 p.Arg432Ser Uncertain significance Single submitter
Predictors split 48
The independent predictors disagree with each other — read with care.
- MYLK3 p.Arg600Gln Uncertain significance Multiple submitters
- MYLK3 p.Arg749Trp Uncertain significance Multiple submitters
- MYLK3 p.Asp599Asn Uncertain significance Multiple submitters
- MYLK3 p.Gln102Pro Uncertain significance Multiple submitters
- MYLK3 p.Ile654Val Benign/Likely benign Multiple submitters
- MYLK3 p.Ile724Thr Uncertain significance Multiple submitters
- MYLK3 p.Pro494Ser Uncertain significance Multiple submitters
- MYLK3 p.Ala124Asp Uncertain significance Single submitter
- MYLK3 p.Ala808Val Uncertain significance Single submitter
- MYLK3 p.Arg500Gln Uncertain significance Single submitter
- MYLK3 p.Arg554Trp Uncertain significance Single submitter
- MYLK3 p.Arg55Pro Uncertain significance Single submitter
- MYLK3 p.Arg62Trp Conflicting Single submitter
- MYLK3 p.Arg783Cys Uncertain significance Single submitter
- MYLK3 p.Asn722Asp Uncertain significance Single submitter
- MYLK3 p.Asp577Glu Uncertain significance Single submitter
- MYLK3 p.Cys727Tyr Uncertain significance Single submitter
- MYLK3 p.Gln787Glu Uncertain significance Single submitter
- MYLK3 p.Gln787His Uncertain significance Single submitter
- MYLK3 p.Glu519Lys Uncertain significance Single submitter
- MYLK3 p.Glu555Gly Uncertain significance Single submitter
- MYLK3 p.Glu604Gly Uncertain significance Single submitter
- MYLK3 p.Glu687Lys Uncertain significance Single submitter
- MYLK3 p.Glu715Gly Uncertain significance Single submitter
- MYLK3 p.Glu715Lys Uncertain significance Single submitter
- MYLK3 p.Glu719Asp Uncertain significance Single submitter
- MYLK3 p.Glu754Lys Uncertain significance Single submitter
- MYLK3 p.Gly538Asp Uncertain significance Single submitter
- MYLK3 p.His499Gln Uncertain significance Single submitter
- MYLK3 p.His650Tyr Uncertain significance Single submitter
- MYLK3 p.Leu706Val Uncertain significance Single submitter
- MYLK3 p.Leu709Phe Benign Single submitter
- MYLK3 p.Leu773Phe Uncertain significance Single submitter
- MYLK3 p.Lys505Asn Uncertain significance Single submitter
- MYLK3 p.Lys558Asn Uncertain significance Single submitter
- MYLK3 p.Lys785Thr Uncertain significance Single submitter
- MYLK3 p.Lys792Glu Uncertain significance Single submitter
- MYLK3 p.Met589Thr Uncertain significance Single submitter
- MYLK3 p.Pro493Ala Uncertain significance Single submitter
- MYLK3 p.Pro493Leu Uncertain significance Single submitter
- MYLK3 p.Pro493Ser Uncertain significance Single submitter
- MYLK3 p.Pro494Arg Uncertain significance Single submitter
- MYLK3 p.Ser508Tyr Uncertain significance Single submitter
- MYLK3 p.Ser756Arg Uncertain significance Single submitter
- MYLK3 p.Thr702Ile Uncertain significance Single submitter
- MYLK3 p.Tyr606His Uncertain significance Single submitter
- MYLK3 p.Val570Met Uncertain significance Single submitter
- MYLK3 p.Val700Ile Uncertain significance Single submitter
All MYLK3 variants
Likely pathogenic 1
- c.1915-1G>T Single submitter
Conflicting classifications of pathogenicity 24
- c.1772+15C>T Single submitter
- p.Ala105Val Single submitter ⚠
- p.Ala194Val Single submitter ⚠
- p.Ala201Val Single submitter ⚠
- p.Ala217Thr Single submitter ⚠
- p.Arg145His Single submitter ⚠
- p.Arg145Ser Single submitter ⚠
- p.Arg62Trp Single submitter ⚠
- p.Arg71Gln Single submitter ⚠
- p.Asp435His Single submitter ⚠
- p.Asp79Glu Single submitter ⚠
- p.Gln181Ter Single submitter
- p.Glu417Lys Single submitter ⚠
- p.Glu768Ala Single submitter ⚠
- p.Gly12Glu Single submitter ⚠
- p.Gly379Arg Single submitter ⚠
- p.Ile339Leu Single submitter ⚠
- p.Met348Leu Single submitter ⚠
- p.Pro402Leu Single submitter ⚠
- p.Pro75Leu Single submitter ⚠
- p.Thr302Met Single submitter ⚠
- p.Thr426Met Single submitter ⚠
- p.Thr537Ile Single submitter ⚠
- p.Tyr591= Single submitter
Benign 19
- c.1772+20C>T Multiple submitters
- c.2115-8T>C Multiple submitters
- p.Gln234Arg Multiple submitters
- p.Gly269Ser Multiple submitters
- p.Pro496= Multiple submitters
- p.Thr244= Multiple submitters
- p.Val180Leu Multiple submitters
- c.1914+13del Single submitter
- c.1986-3del Single submitter
- c.2401-19A>C Single submitter
- c.478-17del Single submitter
- c.478-17dup Single submitter
- p.Ala482= Single submitter
- p.Asn33= Single submitter
- p.Leu709Phe Single submitter ⚠
- p.Phe598= Single submitter
- p.Pro216= Single submitter
- p.Pro73= Single submitter
- p.Pro82= Single submitter
Benign/Likely benign 3
- p.Ala78= Multiple submitters
- p.Ile654Val Multiple submitters ⚠
- p.Leu643= Multiple submitters
Likely benign 318
Showing the top 300 by review status; the full set is in the sitemap.
- p.Arg55Gln Multiple submitters
- p.Asn272= Multiple submitters
- p.Asp556= Multiple submitters
- p.Gly188= Multiple submitters
- p.Gly390Arg Multiple submitters
- p.Gly708= Multiple submitters
- p.His518= Multiple submitters
- p.Pro467= Multiple submitters
- c.1001+16C>A Single submitter
- c.1001+17C>T Single submitter
- c.1001+18A>T Single submitter
- c.1002-4C>T Single submitter
- c.1462+10G>T Single submitter
- c.1462+20G>A Single submitter
- c.1462+20G>C Single submitter
- c.1463-19C>T Single submitter
- c.1568+11A>G Single submitter
- c.1568+13C>T Single submitter
- c.1568+16_1568+26del Single submitter
- c.1568+16C>T Single submitter
- c.1568+17C>T Single submitter
- c.1569-12A>G Single submitter
- c.1569-13T>C Single submitter
- c.1569-14C>T Single submitter
- c.1569-15G>A Single submitter
- c.1569-20G>A Single submitter
- c.1662+12G>T Single submitter
- c.1662+16G>C Single submitter
- c.1662+18G>A Single submitter
- c.1662+19C>T Single submitter
- c.1663-11G>A Single submitter
- c.1663-14C>T Single submitter
- c.1663-20T>C Single submitter
- c.1663-4C>A Single submitter
- c.1663-6C>T Single submitter
- c.1772+12A>T Single submitter
- c.1772+16G>A Single submitter
- c.1772+17G>T Single submitter
- c.1772+19G>A Single submitter
- c.1772+7A>T Single submitter
- c.1772+9C>G Single submitter
- c.1773-18C>T Single submitter
- c.1773-20C>T Single submitter
- c.1773-7C>G Single submitter
- c.1773-9C>T Single submitter
- c.1914+11C>T Single submitter
- c.1914+16G>C Single submitter
- c.1914+17G>A Single submitter
- c.1915-15T>A Single submitter
- c.1915-5C>T Single submitter
- c.1985+10T>G Single submitter
- c.1985+20A>G Single submitter
- c.1986-11C>A Single submitter
- c.1986-12C>T Single submitter
- c.1986-15T>G Single submitter
- c.1986-16del Single submitter
- c.1986-4C>G Single submitter
- c.1986-5C>G Single submitter
- c.1986-6C>G Single submitter
- c.1986-7T>C Single submitter
- c.1986-9T>C Single submitter
- c.2114+12G>A Single submitter
- c.2114+13C>T Single submitter
- c.2114+16C>T Single submitter
- c.2114+17C>T Single submitter
- c.2114+9_2114+12dup Single submitter
- c.2115-11C>G Single submitter
- c.2115-14T>A Single submitter
- c.2115-18C>T Single submitter
- c.2267+10A>T Single submitter
- c.2267+12T>C Single submitter
- c.2267+5C>G Single submitter
- c.2268-10G>C Single submitter
- c.2268-15T>C Single submitter
- c.2268-16C>G Single submitter
- c.2268-16C>T Single submitter
- c.2400+7G>A Single submitter
- c.2400+8G>T Single submitter
- c.2401-10T>G Single submitter
- c.2401-11C>T Single submitter
- c.2401-13T>C Single submitter
- c.2401-4C>G Single submitter
- c.2401-6del Single submitter
- c.2401-7C>T Single submitter
- c.477+11G>A Single submitter
- c.477+12C>A Single submitter
- c.477+14T>C Single submitter
- c.477+17C>T Single submitter
- c.477+20C>A Single submitter
- c.477+8C>T Single submitter
- c.478-11T>C Single submitter
- c.478-12T>C Single submitter
- c.478-12T>G Single submitter
- c.478-13G>A Single submitter
- c.478-14G>C Single submitter
- c.478-16A>G Single submitter
- c.478-17T>A Single submitter
- c.478-19T>G Single submitter
- c.478-5T>C Single submitter
- c.478-6T>C Single submitter
- c.478-8T>C Single submitter
- c.568+10A>T Single submitter
- c.568+15A>G Single submitter
- c.568+17T>A Single submitter
- c.568+20C>G Single submitter
- c.569-10T>C Single submitter
- c.569-12G>A Single submitter
- c.569-4G>T Single submitter
- c.569-5T>C Single submitter
- p.Ala104= Single submitter
- p.Ala120= Single submitter
- p.Ala194= Single submitter
- p.Ala201= Single submitter
- p.Ala209= Single submitter
- p.Ala217= Single submitter
- p.Ala235= Single submitter
- p.Ala284= Single submitter
- p.Ala422= Single submitter
- p.Ala453= Single submitter
- p.Ala480= Single submitter
- p.Ala492= Single submitter
- p.Ala511= Single submitter
- p.Ala543= Single submitter
- p.Arg123= Single submitter
- p.Arg185= Single submitter
- p.Arg292= Single submitter
- p.Arg419= Single submitter
- p.Arg474= Single submitter
- p.Arg525= Single submitter
- p.Arg600= Single submitter
- p.Arg62= Single submitter
- p.Arg666= Single submitter
- p.Arg749= Single submitter
- p.Arg779= Single submitter
- p.Asn272Ser Single submitter
- p.Asn559= Single submitter
- p.Asn562= Single submitter
- p.Asn646Ser Single submitter
- p.Asn722= Single submitter
- p.Asn772= Single submitter
- p.Asp155= Single submitter
- p.Asp195= Single submitter
- p.Asp215= Single submitter
- p.Asp227= Single submitter
- p.Asp434= Single submitter
- p.Asp488= Single submitter
- p.Asp577= Single submitter
- p.Asp593= Single submitter
- p.Asp603= Single submitter
- p.Asp636= Single submitter
- p.Asp732= Single submitter
- p.Asp734= Single submitter
- p.Asp745= Single submitter
- p.Cys644= Single submitter
- p.Cys764= Single submitter
- p.Gln143= Single submitter
- p.Gln181= Single submitter
- p.Gln383= Single submitter
- p.Gln447= Single submitter
- p.Gln528= Single submitter
- p.Glu112= Single submitter
- p.Glu198= Single submitter
- p.Glu388= Single submitter
- p.Glu399= Single submitter
- p.Glu416= Single submitter
- p.Glu417= Single submitter
- p.Glu459= Single submitter
- p.Glu506= Single submitter
- p.Glu560= Single submitter
- p.Glu596= Single submitter
- p.Glu677= Single submitter
- p.Glu68= Single submitter
- p.Glu682= Single submitter
- p.Glu687= Single submitter
- p.Glu768= Single submitter
- p.Gly108= Single submitter
- p.Gly12= Single submitter
- p.Gly16= Single submitter
- p.Gly18= Single submitter
- p.Gly199= Single submitter
- p.Gly211= Single submitter
- p.Gly228= Single submitter
- p.Gly269= Single submitter
- p.Gly287= Single submitter
- p.Gly309= Single submitter
- p.Gly317= Single submitter
- p.Gly354= Single submitter
- p.Gly357= Single submitter
- p.Gly411= Single submitter
- p.Gly444= Single submitter
- p.Gly479= Single submitter
- p.Gly527= Single submitter
- p.Gly538= Single submitter
- p.Gly649= Single submitter
- p.Gly714= Single submitter
- p.Gly738= Single submitter
- p.Gly76= Single submitter
- p.Gly80= Single submitter
- p.His107= Single submitter
- p.His173= Single submitter
- p.His41= Single submitter
- p.His438= Single submitter
- p.His569= Single submitter
- p.His583= Single submitter
- p.His628= Single submitter
- p.His767= Single submitter
- p.Ile125= Single submitter
- p.Ile339= Single submitter
- p.Ile545= Single submitter
- p.Ile84= Single submitter
- p.Leu14= Single submitter
- p.Leu141= Single submitter
- p.Leu197= Single submitter
- p.Leu212= Single submitter
- p.Leu264= Single submitter
- p.Leu349= Single submitter
- p.Leu356= Single submitter
- p.Leu39= Single submitter
- p.Leu403= Single submitter
- p.Leu443= Single submitter
- p.Leu445= Single submitter
- p.Leu521= Single submitter
- p.Leu575= Single submitter
- p.Leu60= Single submitter
- p.Leu608= Single submitter
- p.Leu627= Single submitter
- p.Leu635= Single submitter
- p.Leu67= Single submitter
- p.Leu751= Single submitter
- p.Leu788= Single submitter
- p.Leu789= Single submitter
- p.Leu94= Single submitter
- p.Lys172= Single submitter
- p.Lys28= Single submitter
- p.Lys413= Single submitter
- p.Lys549= Single submitter
- p.Lys605= Single submitter
- p.Lys653= Single submitter
- p.Lys785= Single submitter
- p.Lys798= Single submitter
- p.Lys814= Single submitter
- p.Phe115= Single submitter
- p.Phe42= Single submitter
- p.Phe497= Single submitter
- p.Phe579= Single submitter
- p.Phe673= Single submitter
- p.Phe723= Single submitter
- p.Pro206= Single submitter
- p.Pro223= Single submitter
- p.Pro241= Single submitter
- p.Pro268= Single submitter
- p.Pro276= Single submitter
- p.Pro313= Single submitter
- p.Pro358= Single submitter
- p.Pro365= Single submitter
- p.Pro389= Single submitter
- p.Pro402= Single submitter
- p.Pro409= Single submitter
- p.Pro478= Single submitter
- p.Pro491= Single submitter
- p.Pro493= Single submitter
- p.Pro665= Single submitter
- p.Pro676= Single submitter
- p.Pro692= Single submitter
- p.Pro73Leu Single submitter
- p.Pro75= Single submitter
- p.Pro91= Single submitter
- p.Ser156= Single submitter
- p.Ser176= Single submitter
- p.Ser255= Single submitter
- p.Ser289= Single submitter
- p.Ser336= Single submitter
- p.Ser401= Single submitter
- p.Ser406= Single submitter
- p.Ser408= Single submitter
- p.Ser484= Single submitter
- p.Ser503= Single submitter
- p.Ser550= Single submitter
- p.Ser690= Single submitter
- p.Ser740= Single submitter
- p.Ter820= Single submitter
- p.Thr131= Single submitter
- p.Thr177= Single submitter
- p.Thr200= Single submitter
- p.Thr260= Single submitter
- p.Thr302= Single submitter
- p.Thr325= Single submitter
- p.Thr359Ser Single submitter
- p.Thr362= Single submitter
- p.Thr378= Single submitter
- p.Thr387= Single submitter
- p.Thr393= Single submitter
- p.Thr4= Single submitter
- p.Thr426= Single submitter
- p.Thr507= Single submitter
- p.Thr533= Single submitter
- p.Thr586= Single submitter
- p.Thr609= Single submitter
- p.Thr648= Single submitter
- p.Thr693= Single submitter
Uncertain significance 642
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala104Val Multiple submitters ⚠
- p.Ala138Val Multiple submitters familial dilated cardiomyopathy ⚠
- p.Ala209Val Multiple submitters ⚠
- p.Ala320Gly Multiple submitters ⚠
- p.Ala368Asp Multiple submitters ⚠
- p.Ala384Val Multiple submitters ⚠
- p.Ala414Glu Multiple submitters ⚠
- p.Ala431Pro Multiple submitters ⚠
- p.Ala464Thr Multiple submitters ⚠
- p.Ala480Thr Multiple submitters ⚠
- p.Ala511Val Multiple submitters ⚠
- p.Ala551Thr Multiple submitters ⚠
- p.Ala578Thr Multiple submitters
- p.Ala777Ser Multiple submitters ⚠
- p.Arg145Cys Multiple submitters ⚠
- p.Arg163Gln Multiple submitters ⚠
- p.Arg380His Multiple submitters ⚠
- p.Arg500Trp Multiple submitters ⚠
- p.Arg525Trp Multiple submitters ⚠
- p.Arg554Pro Multiple submitters ⚠
- p.Arg600Gln Multiple submitters ⚠
- p.Arg600Trp Multiple submitters
- p.Arg661Gly Multiple submitters ⚠
- p.Arg71Trp Multiple submitters ⚠
- p.Arg749Gln Multiple submitters ⚠
- p.Arg749Trp Multiple submitters ⚠
- p.Arg783His Multiple submitters ⚠
- p.Asn726His Multiple submitters ⚠
- p.Asp122His Multiple submitters ⚠
- p.Asp343Gly Multiple submitters ⚠
- p.Asp599Asn Multiple submitters ⚠
- p.Cys381Phe Multiple submitters ⚠
- p.Gln102Pro Multiple submitters ⚠
- p.Gln143Glu Multiple submitters ⚠
- p.Gln446His Multiple submitters ⚠
- p.Gln528His Multiple submitters
- p.Glu112Gln Multiple submitters ⚠
- p.Glu186Gln Multiple submitters ⚠
- p.Glu190Asp Multiple submitters ⚠
- p.Glu252Val Multiple submitters ⚠
- p.Glu423Lys Multiple submitters ⚠
- p.Glu481Lys Multiple submitters ⚠
- p.Glu514Val Multiple submitters ⚠
- p.Glu560Lys Multiple submitters ⚠
- p.Glu590Gln Multiple submitters ⚠
- p.Glu622Lys Multiple submitters ⚠
- p.Glu768Gln Multiple submitters ⚠
- p.Glu95Lys Multiple submitters ⚠
- p.Gly169Arg Multiple submitters ⚠
- p.Gly283Arg Multiple submitters ⚠
- p.Gly283Cys Multiple submitters ⚠
- p.Gly287Glu Multiple submitters ⚠
- p.Gly317Arg Multiple submitters ⚠
- p.Gly354Asp Multiple submitters ⚠
- p.Gly594Arg Multiple submitters ⚠
- p.Gly77Arg Multiple submitters ⚠
- p.His11fs Multiple submitters
- p.His438Gln Multiple submitters ⚠
- p.His518Tyr Multiple submitters ⚠
- p.His583Asp Multiple submitters ⚠
- p.His607Asn Multiple submitters ⚠
- p.His607Gln Multiple submitters ⚠
- p.His650Arg Multiple submitters ⚠
- p.Ile207fs Multiple submitters dilated cardiomyopathy
- p.Ile339Thr Multiple submitters ⚠
- p.Ile563Val Multiple submitters ⚠
- p.Ile642Met Multiple submitters ⚠
- p.Ile655Val Multiple submitters ⚠
- p.Ile724Thr Multiple submitters ⚠
- p.Ile794Val Multiple submitters ⚠
- p.Ile84Thr Multiple submitters ⚠
- p.Leu264Phe Multiple submitters ⚠
- p.Lys249Thr Multiple submitters ⚠
- p.Lys35Glu Multiple submitters
- p.Met342Ile Multiple submitters ⚠
- p.Met695Thr Multiple submitters ⚠
- p.Pro187Thr Multiple submitters ⚠
- p.Pro223Leu Multiple submitters ⚠
- p.Pro237Ala Multiple submitters ⚠
- p.Pro365Ala Multiple submitters ⚠
- p.Pro467Leu Multiple submitters ⚠
- p.Pro491Thr Multiple submitters ⚠
- p.Pro494Ser Multiple submitters ⚠
- p.Pro496Thr Multiple submitters ⚠
- p.Pro639Ala Multiple submitters ⚠
- p.Pro639Leu Multiple submitters ⚠
- p.Ser152Asn Multiple submitters ⚠
- p.Ser289Leu Multiple submitters ⚠
- p.Ser433Asn Multiple submitters ⚠
- p.Ser450Ile Multiple submitters ⚠
- p.Ser584Asn Multiple submitters ⚠
- p.Ser740Leu Multiple submitters
- p.Thr244Ala Multiple submitters ⚠
- p.Thr735Ile Multiple submitters ⚠
- p.Thr762Ile Multiple submitters ⚠
- p.Trp729Arg Multiple submitters ⚠
- p.Tyr804His Multiple submitters ⚠
- p.Val174Gly Multiple submitters ⚠
- p.Val221Ile Multiple submitters ⚠
- p.Val271Asp Multiple submitters ⚠
- p.Val280Ile Multiple submitters ⚠
- p.Val485Met Multiple submitters ⚠
- p.Val592Met Multiple submitters ⚠
- p.Val645Ile Multiple submitters ⚠
- p.Val747Leu Multiple submitters ⚠
- p.Val752Ile Multiple submitters ⚠
- c.1463-1G>A Single submitter
- c.1568+1G>T Single submitter
- c.1568+3A>G Single submitter
- c.1568+5G>A Single submitter
- c.1568+7G>A Single submitter
- c.1569-26_1569-1del Single submitter
- c.1569-2A>C Single submitter
- c.1662+1G>A Single submitter
- c.1662+7C>T Single submitter
- c.1663-3A>G Single submitter
- c.1663-5C>A Single submitter MYLK3-associated cardiomyopathy
- c.1772+1G>A Single submitter
- c.1772+2T>A Single submitter
- c.1772+2T>C Single submitter
- c.1772+3_1772+6del Single submitter
- c.1772+4A>G Single submitter
- c.1772+6T>A Single submitter
- c.1914+1G>C Single submitter
- c.1914+4G>A Single submitter
- c.1915-11T>A Single submitter
- c.1915-8T>A Single submitter
- c.1985+2T>C Single submitter
- c.1985+3A>G Single submitter
- c.1985+5G>C Single submitter
- c.2115-10_2115-7del Single submitter
- c.2115-11_2115-8del Single submitter
- c.2115-12T>C Single submitter
- c.2115-14T>C Single submitter
- c.2115-2A>T Single submitter
- c.2268-2A>C Single submitter
- c.2268-3C>G Single submitter
- c.2268-7T>G Single submitter
- c.2400+1G>A Single submitter
- c.477+1G>A Single submitter
- c.477+4G>A Single submitter
- c.477+4G>C Single submitter
- c.478-14G>A Single submitter
- c.478-3_478-2insGGTTGTTATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCCACCGCGCCCGGCC Single submitter
- c.568+3G>A Single submitter
- c.568+4A>T Single submitter
- c.568+6T>C Single submitter
- c.569-2A>G Single submitter
- p.Ala120Val Single submitter ⚠
- p.Ala124Asp Single submitter ⚠
- p.Ala124Thr Single submitter ⚠
- p.Ala124Val Single submitter ⚠
- p.Ala126Thr Single submitter ⚠
- p.Ala126Val Single submitter ⚠
- p.Ala138Glu Single submitter ⚠
- p.Ala209Glu Single submitter ⚠
- p.Ala214Ser Single submitter ⚠
- p.Ala235Glu Single submitter ⚠
- p.Ala235Gly Single submitter ⚠
- p.Ala235Thr Single submitter ⚠
- p.Ala248Asp Single submitter ⚠
- p.Ala250Asp Single submitter ⚠
- p.Ala250Gly Single submitter ⚠
- p.Ala288fs Single submitter
- p.Ala288Thr Single submitter ⚠
- p.Ala320Pro Single submitter ⚠
- p.Ala322Thr Single submitter ⚠
- p.Ala324Glu Single submitter ⚠
- p.Ala364Ser Single submitter ⚠
- p.Ala366Ser Single submitter ⚠
- p.Ala368Val Single submitter ⚠
- p.Ala384Asp Single submitter ⚠
- p.Ala420Ser Single submitter ⚠
- p.Ala442fs Single submitter
- p.Ala442Ser Single submitter ⚠
- p.Ala442Thr Single submitter ⚠
- p.Ala453Thr Single submitter ⚠
- p.Ala453Val Single submitter ⚠
- p.Ala464Val Single submitter ⚠
- p.Ala466Gly Single submitter ⚠
- p.Ala470Ser Single submitter ⚠
- p.Ala470Thr Single submitter ⚠
- p.Ala470Val Single submitter ⚠
- p.Ala472Glu Single submitter ⚠
- p.Ala511Glu Single submitter ⚠
- p.Ala680Thr Single submitter ⚠
- p.Ala69Asp Single submitter ⚠
- p.Ala69Thr Single submitter ⚠
- p.Ala761Asp Single submitter ⚠
- p.Ala775Asp Single submitter ⚠
- p.Ala777Thr Single submitter ⚠
- p.Ala795Thr Single submitter ⚠
- p.Ala795Val Single submitter ⚠
- p.Ala808Val Single submitter ⚠
- p.Ala809Thr Single submitter ⚠
- p.Ala809Val Single submitter ⚠
- p.Ala88Val Single submitter ⚠
- p.Arg110Ser Single submitter ⚠
- p.Arg116Gln Single submitter
- p.Arg116Lys Single submitter ⚠
- p.Arg123Gly Single submitter ⚠
- p.Arg123Lys Single submitter ⚠
- p.Arg145Leu Single submitter ⚠
- p.Arg150Lys Single submitter ⚠
- p.Arg163Ter Single submitter
- p.Arg292Met Single submitter ⚠
- p.Arg292Ser Single submitter ⚠
- p.Arg353Gly Single submitter ⚠
- p.Arg380Cys Single submitter ⚠
- p.Arg380Gly Single submitter ⚠
- p.Arg432Ser Single submitter ⚠
- p.Arg465Ser Single submitter ⚠
- p.Arg474Lys Single submitter ⚠
- p.Arg500Gln Single submitter ⚠
- p.Arg525Gln Single submitter
- p.Arg525Gly Single submitter ⚠
- p.Arg525Leu Single submitter ⚠
- p.Arg531Gly Single submitter
- p.Arg554= Single submitter
- p.Arg554Gln Single submitter ⚠
- p.Arg554Trp Single submitter ⚠
- p.Arg55fs Single submitter
- p.Arg55Pro Single submitter ⚠
- p.Arg55Ter Single submitter
- p.Arg62Gln Single submitter ⚠
- p.Arg666Ter Single submitter
- p.Arg66Ser Single submitter ⚠
- p.Arg71Leu Single submitter ⚠
- p.Arg783Cys Single submitter ⚠
- p.Arg797Ile Single submitter
- p.Arg813Lys Single submitter ⚠
- p.Asn160Asp Single submitter ⚠
- p.Asn160Lys Single submitter ⚠
- p.Asn33Lys Single submitter ⚠
- p.Asn33Ser Single submitter ⚠
- p.Asn436Ser Single submitter ⚠
- p.Asn455fs Single submitter
- p.Asn562Lys Single submitter ⚠
- p.Asn562Ser Single submitter ⚠
- p.Asn646fs Single submitter
- p.Asn685Ser Single submitter ⚠
- p.Asn722Asp Single submitter ⚠
- p.Asn810Ser Single submitter ⚠
- p.Asp139Gly Single submitter ⚠
- p.Asp183Gly Single submitter ⚠
- p.Asp215Glu Single submitter ⚠
- p.Asp37Tyr Single submitter ⚠
- p.Asp434Glu Single submitter ⚠
- p.Asp434Val Single submitter ⚠
- p.Asp435Asn Single submitter ⚠
- p.Asp45Val Single submitter ⚠
- p.Asp461Gly Single submitter ⚠
- p.Asp461His Single submitter ⚠
- p.Asp461Tyr Single submitter ⚠
- p.Asp488Gly Single submitter ⚠
- p.Asp56His Single submitter ⚠
- p.Asp577Glu Single submitter ⚠
- p.Asp599Glu Single submitter ⚠
- p.Asp612Gly Single submitter ⚠
- p.Asp636Asn Single submitter ⚠
- p.Asp656Glu Single submitter ⚠
- p.Asp734Glu Single submitter ⚠
- p.Asp85Gly Single submitter ⚠
- p.Cys462Gly Single submitter ⚠
- p.Cys532Arg Single submitter ⚠
- p.Cys532Phe Single submitter ⚠
- p.Cys532Trp Single submitter ⚠
- p.Cys727Tyr Single submitter ⚠
- p.Cys764Tyr Single submitter ⚠
- p.Gln101Lys Single submitter ⚠
- p.Gln101Ter Single submitter
- p.Gln133Pro Single submitter ⚠
- p.Gln181fs Single submitter
- p.Gln234Ter Single submitter
- p.Gln286Arg Single submitter ⚠
- p.Gln286Leu Single submitter ⚠
- p.Gln321Arg Single submitter ⚠
- p.Gln340Ter Single submitter
- p.Gln369Ter Single submitter
- p.Gln404Arg Single submitter ⚠
- p.Gln404Ter Single submitter
- p.Gln43fs Single submitter
- p.Gln447Arg Single submitter ⚠
- p.Gln460Pro Single submitter ⚠
- p.Gln528fs Single submitter
- p.Gln566Ter Single submitter
- p.Gln619Ter Single submitter
- p.Gln787Glu Single submitter ⚠
- p.Gln787His Single submitter ⚠
- p.Gln787Ter Single submitter
- p.Gln87Pro Single submitter ⚠
- p.Glu158Ala Single submitter ⚠
- p.Glu158Lys Single submitter ⚠
- p.Glu159= Single submitter
- p.Glu159Gly Single submitter ⚠
- p.Glu167Lys Single submitter ⚠
- p.Glu189Val Single submitter ⚠
- p.Glu202Asp Single submitter ⚠
- p.Glu256Lys Single submitter ⚠
- p.Glu263Gln Single submitter ⚠