MYLK2 — 750 ClinVar variants

All ClinVar germline MYLK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 376 flagged for review →

36 Conflicting · 25 Benign · 22 Benign/Likely benign · 267 Likely benign · 400 Uncertain significance

Full MYLK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 376

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 26

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

MYLK2 p.Ala2Thr Conflicting Single submitter
cardiomyopathy
MYLK2 p.Ala58Asp Conflicting Single submitter
cardiomyopathy
MYLK2 p.Ala593Val Conflicting Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Ala87Val Conflicting Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Asn278Lys Conflicting Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Asp375Asn Conflicting Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Asp502Gly Conflicting Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Asp53Asn Conflicting Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Glu114Lys Conflicting Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Glu369Lys Conflicting Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Gly142Val Conflicting Single submitter
cardiomyopathy
MYLK2 p.Gly85Glu Conflicting Single submitter
MYLK2 p.Ile199Val Conflicting Single submitter
cardiomyopathy
MYLK2 p.Leu200Pro Conflicting Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Lys125Glu Conflicting Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Met271Ile Conflicting Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Pro104Ser Conflicting Single submitter
MYLK2 p.Pro111Ser Conflicting Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Ser118Leu Conflicting Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Thr175Asn Conflicting Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Thr175Ile Conflicting Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Thr17Lys Conflicting Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Thr186Met Conflicting Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Thr301Asn Conflicting Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Thr65Ile Conflicting Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Val402Phe Conflicting Single submitter
hypertrophic cardiomyopathy 1

Predictors lean, ClinVar uncertain 289

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 289

MYLK2 p.Ala102Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Ala132Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Ala133Val Uncertain significance Multiple submitters
Sudden unexplained death
MYLK2 p.Ala164Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Ala191Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Ala193Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Ala290Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Ala2Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Ala536Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Ala544Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Ala58Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Ala590Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Ala87Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Ala96Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Arg141Lys Uncertain significance Multiple submitters
MYLK2 p.Arg270Cys Uncertain significance Multiple submitters
MYLK2 p.Arg340Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Arg340His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Arg340Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Arg431Trp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Arg528Trp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Arg549Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Arg549His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Arg552Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Arg568Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Arg581Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYLK2 p.Asn434Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Asn541Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Asn551Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Asp122His Uncertain significance Multiple submitters
cardiomyopathy
MYLK2 p.Asp323Tyr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Asp35Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Asp35His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Cys253Trp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Gln115Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Gln221Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Gln525Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Gln533Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Glu134Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Glu202Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Glu250Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Glu304Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Glu330Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Glu350Lys Uncertain significance Multiple submitters
MYLK2 p.Glu380Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Gly116Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Gly11Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Gly135Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Gly292Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Gly365Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Gly469Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Gly478Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Gly62Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Gly64Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Gly84Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Ile155Phe Uncertain significance Multiple submitters
cardiomyopathy
MYLK2 p.Ile371Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Ile390Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Leu174Phe Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Leu395Phe Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Leu50Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Lys131Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Lys314Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Lys42Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Met592Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Pro21Leu Uncertain significance Multiple submitters
MYLK2 p.Pro29Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Pro352Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Pro39Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Pro45Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Pro48Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Pro69Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Pro76Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Pro76Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Pro98Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Ser157Phe Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Ser235Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Ser281Thr Uncertain significance Multiple submitters
MYLK2 p.Ser588Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Thr224Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Thr383Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Thr49Ile Uncertain significance Multiple submitters
MYLK2 p.Trp499Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Tyr473His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Val108Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Val128Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Val240Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Val356Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Val422Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Val509Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Val522Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Val576Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Ala102Ser Uncertain significance Single submitter
MYLK2 p.Ala113Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Ala117Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Ala137Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Ala145Pro Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Ala145Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Ala171Glu Uncertain significance Single submitter
MYLK2 p.Ala171Thr Uncertain significance Single submitter
MYLK2 p.Ala191Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Ala193Glu Uncertain significance Single submitter
MYLK2 p.Ala193Ser Uncertain significance Single submitter
MYLK2 p.Ala201Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Ala20Pro Uncertain significance Single submitter
MYLK2 p.Ala20Ser Uncertain significance Single submitter
MYLK2 p.Ala32Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Ala32Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Ala508Thr Uncertain significance Single submitter
MYLK2 p.Ala513Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Ala527Asp Uncertain significance Single submitter
MYLK2 p.Ala544Glu Uncertain significance Single submitter
MYLK2 p.Ala54Asp Uncertain significance Single submitter
MYLK2 p.Ala54Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Ala56Val Uncertain significance Single submitter
cardiomyopathy
MYLK2 p.Ala578Thr Uncertain significance Single submitter
MYLK2 p.Ala579Val Uncertain significance Single submitter
MYLK2 p.Ala91Ser Uncertain significance Single submitter
MYLK2 p.Arg127Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Arg226Lys Uncertain significance Single submitter
MYLK2 p.Arg226Thr Uncertain significance Single submitter
MYLK2 p.Arg270Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Arg401Gly Uncertain significance Single submitter
MYLK2 p.Arg528Gln Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Arg567Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Arg581His Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Asn198Thr Uncertain significance Single submitter
MYLK2 p.Asn498Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Asn519Lys Uncertain significance Single submitter
MYLK2 p.Asn519Ser Uncertain significance Single submitter
MYLK2 p.Asn5Lys Uncertain significance Single submitter
MYLK2 p.Asp122Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Asp223Asn Uncertain significance Single submitter
MYLK2 p.Asp373Val Uncertain significance Single submitter
MYLK2 p.Asp40Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Asp40His Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Asp461Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Asp461His Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Asp515Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Asp63Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Asp63Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Asp81Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Cys550Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Gln204Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Gln336Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Glu114Gly Uncertain significance Single submitter
MYLK2 p.Glu173Lys Uncertain significance Single submitter
MYLK2 p.Glu195Asp Uncertain significance Single submitter
MYLK2 p.Glu236Gln Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Glu239Ala Uncertain significance Single submitter
hypertrophic cardiomyopathy 1

Predictors split 61

The independent predictors disagree with each other — read with care.

MYLK2 p.Ala430Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Arg388Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Arg553Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Arg567Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Asn542Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
MYLK2 p.Gln557His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Glu289Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Glu363Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Glu504Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Gly277Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Gly33Trp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Gly589Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Gly595Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Gly595Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Ile459Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Met359Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Met474Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Thr505Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
MYLK2 p.Ala265Pro Uncertain significance Single submitter
MYLK2 p.Ala531Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Ala575Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Arg431Gln Uncertain significance Single submitter
MYLK2 p.Arg552Gly Uncertain significance Single submitter
MYLK2 p.Asn341Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Asn434Tyr Uncertain significance Single submitter
MYLK2 p.Asn542Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Asn572Ser Uncertain significance Single submitter
MYLK2 p.Asp258Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Asp502Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Gln557Glu Uncertain significance Single submitter
MYLK2 p.Gly419Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Gly419Glu Uncertain significance Single submitter
MYLK2 p.Gly589Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.His420Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Ile390Met Uncertain significance Single submitter
MYLK2 p.Ile574Thr Uncertain significance Single submitter
MYLK2 p.Leu337Met Uncertain significance Single submitter
MYLK2 p.Leu342Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Leu520Phe Uncertain significance Single submitter
MYLK2 p.Leu564Phe Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Lys295Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Lys310Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Lys317Asn Uncertain significance Single submitter
MYLK2 p.Lys322Asn Uncertain significance Single submitter
MYLK2 p.Met326Ile Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Met326Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Met334Leu Uncertain significance Single submitter
MYLK2 p.Met384Ile Uncertain significance Single submitter
MYLK2 p.Met397Val Uncertain significance Single submitter
hypertrophic cardiomyopathy
MYLK2 p.Met400Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Met565Thr Conflicting Single submitter
cardiomyopathy
MYLK2 p.Phe146Leu Uncertain significance Single submitter
MYLK2 p.Phe368Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Pro264Leu Conflicting Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Pro268Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Ser151Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Thr383Ile Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Thr418Ile Conflicting Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Tyr376Cys Uncertain significance Single submitter
MYLK2 p.Tyr456Cys Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
MYLK2 p.Val454Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy 1

All MYLK2 variants

Conflicting classifications of pathogenicity 36

c.1425-6C>A Single submitter hypertrophic cardiomyopathy 1
c.1710+5C>T Single submitter hypertrophic cardiomyopathy 1
c.1711-4C>T Single submitter cardiomyopathy
p.Ala139= Single submitter hypertrophic cardiomyopathy 1
p.Ala2Thr Single submitter cardiomyopathy ⚠
p.Ala58Asp Single submitter cardiomyopathy ⚠
p.Ala593Val Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Ala87Val Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Asn278Lys Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Asp375Asn Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Asp502Gly Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Asp53Asn Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Glu114Lys Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Glu369Lys Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Gly142Val Single submitter cardiomyopathy ⚠
p.Gly85Glu Single submitter ⚠
p.Ile199Val Single submitter cardiomyopathy ⚠
p.Leu200Pro Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Lys125Glu Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Met271Ile Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Met565Thr Single submitter cardiomyopathy ⚠
p.Pro104Ser Single submitter ⚠
p.Pro111Ser Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Pro264Leu Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Ser118Leu Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Ser169= Single submitter hypertrophic cardiomyopathy 1
p.Ser460= Single submitter hypertrophic cardiomyopathy 1
p.Thr175Asn Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Thr175Ile Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Thr17Lys Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Thr186= Single submitter hypertrophic cardiomyopathy 1
p.Thr186Met Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Thr301Asn Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Thr418Ile Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Thr65Ile Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Val402Phe Single submitter hypertrophic cardiomyopathy 1 ⚠

Benign 25

c.1082+11G>A Multiple submitters cardiomyopathy
c.1083-40C>G Multiple submitters
c.1424+107A>G Multiple submitters
c.1710+120C>T Multiple submitters
c.1710+15A>G Multiple submitters cardiomyopathy
c.1711-296T>G Multiple submitters
c.1711-61C>T Multiple submitters
c.1711-6C>T Multiple submitters cardiomyopathy
c.473+86T>C Multiple submitters
c.772+33C>T Multiple submitters
c.772+44G>C Multiple submitters hypertrophic cardiomyopathy 1
c.878+42T>C Multiple submitters
c.973-74G>A Multiple submitters
c.-67T>C Multiple submitters
p.Ala306= Multiple submitters hypertrophic cardiomyopathy 1
p.Ile228= Multiple submitters hypertrophic cardiomyopathy 1
p.Phe368= Multiple submitters hypertrophic cardiomyopathy 1
c.1224+201G>A Single submitter
c.1710+245A>G Single submitter
c.473+231T>C Single submitter
c.53-230G>A Single submitter
c.878+17dup Single submitter hypertrophic cardiomyopathy 1
c.878+215C>T Single submitter
c.879-240C>T Single submitter
c.972+18del Single submitter hypertrophic cardiomyopathy 1

Benign/Likely benign 22

c.1224+8A>C Multiple submitters cardiomyopathy
c.1295+4C>A Multiple submitters hypertrophic cardiomyopathy 1
c.1711-20C>G Multiple submitters hypertrophic cardiomyopathy 1
c.972+14G>A Multiple submitters hypertrophic cardiomyopathy 1
p.Ala2= Multiple submitters hypertrophic cardiomyopathy 1
p.Ala95Glu Multiple submitters cardiomyopathy
p.Arg528= Multiple submitters hypertrophic cardiomyopathy 1
p.Asn436= Multiple submitters hypertrophic cardiomyopathy 1
p.Asn530= Multiple submitters cardiomyopathy
p.Asp392= Multiple submitters cardiomyopathy
p.Asp486= Multiple submitters cardiomyopathy
p.Gln242= Multiple submitters hypertrophic cardiomyopathy 1
p.Glu170Lys Multiple submitters cardiomyopathy
p.Glu209= Multiple submitters hypertrophic cardiomyopathy 1
p.Gly89Asp Multiple submitters cardiomyopathy
p.His183= Multiple submitters cardiomyopathy
p.Leu329= Multiple submitters cardiomyopathy
p.Lys34= Multiple submitters cardiomyopathy
p.Pro144Ala Multiple submitters cardiomyopathy
p.Pro261= Multiple submitters cardiomyopathy
p.Pro262= Multiple submitters hypertrophic cardiomyopathy 1
p.Val356= Multiple submitters cardiomyopathy

Likely benign 267

c.1082+10C>T Multiple submitters hypertrophic cardiomyopathy 1
c.1225-20G>T Multiple submitters hypertrophic cardiomyopathy 1
c.1296-13G>T Multiple submitters hypertrophic cardiomyopathy 1
c.1424+15G>A Multiple submitters hypertrophic cardiomyopathy 1
c.1424+20G>A Multiple submitters hypertrophic cardiomyopathy 1
c.1577+9C>T Multiple submitters hypertrophic cardiomyopathy 1
c.1710+15A>T Multiple submitters hypertrophic cardiomyopathy 1
c.473+11C>T Multiple submitters hypertrophic cardiomyopathy 1
c.473+9C>T Multiple submitters hypertrophic cardiomyopathy 1
c.772+14A>T Multiple submitters hypertrophic cardiomyopathy 1
c.878+95C>A Multiple submitters
c.879-13C>T Multiple submitters hypertrophic cardiomyopathy 1
c.972+13C>T Multiple submitters hypertrophic cardiomyopathy 1
p.Ala133= Multiple submitters hypertrophic cardiomyopathy 1
p.Ala145= Multiple submitters hypertrophic cardiomyopathy 1
p.Ala290= Multiple submitters hypertrophic cardiomyopathy 1
p.Ala508= Multiple submitters hypertrophic cardiomyopathy 1
p.Ala544= Multiple submitters hypertrophic cardiomyopathy 1
p.Ala7= Multiple submitters hypertrophic cardiomyopathy 1
p.Ala87= Multiple submitters cardiomyopathy
p.Ala96= Multiple submitters hypertrophic cardiomyopathy 1
p.Arg127= Multiple submitters hypertrophic cardiomyopathy 1
p.Arg140= Multiple submitters
p.Arg401= Multiple submitters hypertrophic cardiomyopathy 1
p.Arg553= Multiple submitters hypertrophic cardiomyopathy 1
p.Asn198= Multiple submitters hypertrophic cardiomyopathy 1
p.Asn411= Multiple submitters hypertrophic cardiomyopathy 1
p.Asn416= Multiple submitters hypertrophic cardiomyopathy 1
p.Asn493= Multiple submitters hypertrophic cardiomyopathy 1
p.Asn580= Multiple submitters hypertrophic cardiomyopathy 1
p.Asp35= Multiple submitters hypertrophic cardiomyopathy 1
p.Asp511= Multiple submitters hypertrophic cardiomyopathy 1
p.Gln319= Multiple submitters hypertrophic cardiomyopathy 1
p.Gln68= Multiple submitters hypertrophic cardiomyopathy 1
p.Glu173= Multiple submitters hypertrophic cardiomyopathy 1
p.Glu452= Multiple submitters hypertrophic cardiomyopathy 1
p.Gly116= Multiple submitters hypertrophic cardiomyopathy 1
p.Gly119= Multiple submitters hypertrophic cardiomyopathy 1
p.Gly26= Multiple submitters hypertrophic cardiomyopathy 1
p.Gly297= Multiple submitters hypertrophic cardiomyopathy 1
p.Gly364= Multiple submitters hypertrophic cardiomyopathy 1
p.Gly37= Multiple submitters hypertrophic cardiomyopathy 1
p.Gly428= Multiple submitters hypertrophic cardiomyopathy 1
p.Gly80= Multiple submitters hypertrophic cardiomyopathy 1
p.Gly89= Multiple submitters hypertrophic cardiomyopathy 1
p.His398= Multiple submitters hypertrophic cardiomyopathy 1
p.Ile349= Multiple submitters hypertrophic cardiomyopathy 1
p.Ile362= Multiple submitters hypertrophic cardiomyopathy 1
p.Leu163= Multiple submitters hypertrophic cardiomyopathy 1
p.Leu244= Multiple submitters hypertrophic cardiomyopathy 1
p.Leu309= Multiple submitters hypertrophic cardiomyopathy 1
p.Leu311= Multiple submitters hypertrophic cardiomyopathy 1
p.Leu395= Multiple submitters hypertrophic cardiomyopathy 1
p.Leu535= Multiple submitters hypertrophic cardiomyopathy 1
p.Leu594= Multiple submitters hypertrophic cardiomyopathy 1
p.Lys131= Multiple submitters hypertrophic cardiomyopathy 1
p.Lys305= Multiple submitters hypertrophic cardiomyopathy 1
p.Lys561= Multiple submitters
p.Phe448= Multiple submitters hypertrophic cardiomyopathy 1
p.Pro104= Multiple submitters hypertrophic cardiomyopathy 1
p.Pro264= Multiple submitters hypertrophic cardiomyopathy 1
p.Pro352= Multiple submitters hypertrophic cardiomyopathy 1
p.Pro45= Multiple submitters hypertrophic cardiomyopathy 1
p.Pro86= Multiple submitters hypertrophic cardiomyopathy 1
p.Pro94= Multiple submitters hypertrophic cardiomyopathy 1
p.Pro94Leu Multiple submitters hypertrophic cardiomyopathy 1
p.Pro98= Multiple submitters hypertrophic cardiomyopathy 1
p.Ser157= Multiple submitters
p.Ser172= Multiple submitters hypertrophic cardiomyopathy 1
p.Ser203= Multiple submitters
p.Ser238= Multiple submitters hypertrophic cardiomyopathy 1
p.Ser467= Multiple submitters hypertrophic cardiomyopathy 1
p.Ser477= Multiple submitters
p.Ser577= Multiple submitters hypertrophic cardiomyopathy 1
p.Ser588= Multiple submitters hypertrophic cardiomyopathy 1
p.Thr211= Multiple submitters hypertrophic cardiomyopathy 1
p.Thr25= Multiple submitters hypertrophic cardiomyopathy 1
p.Thr418= Multiple submitters hypertrophic cardiomyopathy 1
p.Thr505= Multiple submitters hypertrophic cardiomyopathy 1
p.Tyr456= Multiple submitters hypertrophic cardiomyopathy 1
p.Val327= Multiple submitters hypertrophic cardiomyopathy 1
p.Val415= Multiple submitters hypertrophic cardiomyopathy 1
c.1082+19G>A Single submitter hypertrophic cardiomyopathy 1
c.1083-12C>T Single submitter hypertrophic cardiomyopathy 1
c.1083-4A>G Single submitter hypertrophic cardiomyopathy 1
c.1083-5C>T Single submitter hypertrophic cardiomyopathy 1
c.1083-8G>A Single submitter hypertrophic cardiomyopathy 1
c.1224+12G>C Single submitter hypertrophic cardiomyopathy 1
c.1224+14G>A Single submitter hypertrophic cardiomyopathy 1
c.1224+17T>C Single submitter hypertrophic cardiomyopathy 1
c.1224+201del Single submitter
c.1225-13C>T Single submitter hypertrophic cardiomyopathy 1
c.1225-14C>A Single submitter hypertrophic cardiomyopathy 1
c.1295+12G>C Single submitter hypertrophic cardiomyopathy 1
c.1295+9TGGG[2] Single submitter hypertrophic cardiomyopathy 1
c.1296-11C>G Single submitter hypertrophic cardiomyopathy 1
c.1296-13G>A Single submitter hypertrophic cardiomyopathy 1
c.1296-9C>A Single submitter hypertrophic cardiomyopathy 1
c.1424+13G>A Single submitter hypertrophic cardiomyopathy 1
c.1424+19C>T Single submitter hypertrophic cardiomyopathy 1
c.1424+6C>T Single submitter hypertrophic cardiomyopathy 1
c.1424+8C>T Single submitter hypertrophic cardiomyopathy 1
c.1425-10C>G Single submitter hypertrophic cardiomyopathy 1
c.1425-10C>T Single submitter hypertrophic cardiomyopathy 1
c.1425-11C>A Single submitter hypertrophic cardiomyopathy 1
c.1425-11C>G Single submitter hypertrophic cardiomyopathy 1
c.1425-11C>T Single submitter hypertrophic cardiomyopathy 1
c.1425-12C>T Single submitter hypertrophic cardiomyopathy 1
c.1425-5T>A Single submitter hypertrophic cardiomyopathy 1
c.1425-5T>C Single submitter hypertrophic cardiomyopathy 1
c.1425-6C>T Single submitter hypertrophic cardiomyopathy 1
c.1577+10A>G Single submitter hypertrophic cardiomyopathy 1
c.1577+17A>G Single submitter hypertrophic cardiomyopathy 1
c.1577+20C>G Single submitter hypertrophic cardiomyopathy 1
c.1578-11C>T Single submitter hypertrophic cardiomyopathy 1
c.1578-15C>A Single submitter hypertrophic cardiomyopathy 1
c.1578-16G>A Single submitter hypertrophic cardiomyopathy 1
c.1578-17T>C Single submitter hypertrophic cardiomyopathy 1
c.1578-7C>T Single submitter
c.1710+14_1710+15delinsGG Single submitter hypertrophic cardiomyopathy 1
c.1710+14C>T Single submitter hypertrophic cardiomyopathy 1
c.1710+18G>A Single submitter hypertrophic cardiomyopathy 1
c.1710+20G>A Single submitter hypertrophic cardiomyopathy 1
c.1710+20G>C Single submitter hypertrophic cardiomyopathy 1
c.1710+20G>T Single submitter hypertrophic cardiomyopathy 1
c.1710+8T>C Single submitter hypertrophic cardiomyopathy 1
c.1711-182G>A Single submitter
c.473+10C>T Single submitter
c.473+17G>C Single submitter hypertrophic cardiomyopathy 1
c.473+18G>A Single submitter hypertrophic cardiomyopathy 1
c.474-10C>T Single submitter hypertrophic cardiomyopathy 1
c.474-12C>T Single submitter hypertrophic cardiomyopathy 1
c.474-15G>T Single submitter
c.474-19_474-18del Single submitter hypertrophic cardiomyopathy 1
c.474-7C>T Single submitter hypertrophic cardiomyopathy 1
c.52+11G>A Single submitter hypertrophic cardiomyopathy 1
c.52+13G>C Single submitter hypertrophic cardiomyopathy 1
c.52+19A>G Single submitter hypertrophic cardiomyopathy 1
c.52+8G>A Single submitter hypertrophic cardiomyopathy 1
c.52+9C>A Single submitter hypertrophic cardiomyopathy 1
c.53-12C>T Single submitter hypertrophic cardiomyopathy 1
c.53-20G>A Single submitter hypertrophic cardiomyopathy 1
c.53-20G>T Single submitter hypertrophic cardiomyopathy 1
c.53-45A>G Single submitter
c.772+18G>C Single submitter hypertrophic cardiomyopathy 1
c.772+84G>A Single submitter
c.773-15T>C Single submitter hypertrophic cardiomyopathy 1
c.773-173T>C Single submitter
c.773-19G>T Single submitter hypertrophic cardiomyopathy 1
c.773-7C>T Single submitter hypertrophic cardiomyopathy 1
c.878+16C>G Single submitter hypertrophic cardiomyopathy 1
c.878+18A>C Single submitter hypertrophic cardiomyopathy 1
c.878+8C>G Single submitter
c.879-16C>G Single submitter hypertrophic cardiomyopathy 1
c.879-19C>A Single submitter hypertrophic cardiomyopathy 1
c.879-262C>T Single submitter
c.879-4C>T Single submitter hypertrophic cardiomyopathy 1
c.879-5T>C Single submitter hypertrophic cardiomyopathy 1
c.879-7T>C Single submitter
c.972+14G>C Single submitter hypertrophic cardiomyopathy 1
c.972+17G>A Single submitter hypertrophic cardiomyopathy 1
c.972+18G>A Single submitter hypertrophic cardiomyopathy 1
c.972+19T>C Single submitter hypertrophic cardiomyopathy 1
c.972+67G>A Single submitter
c.973-13C>T Single submitter hypertrophic cardiomyopathy 1
c.973-141G>T Single submitter
c.973-4C>T Single submitter hypertrophic cardiomyopathy 1
c.-62C>T Single submitter
c.*1G>T Single submitter
c.*27G>T Single submitter
c.*9C>T Single submitter
p.Ala102= Single submitter hypertrophic cardiomyopathy 1
p.Ala191= Single submitter hypertrophic cardiomyopathy 1
p.Ala218= Single submitter
p.Ala313= Single submitter
p.Ala32= Single submitter
p.Ala430= Single submitter hypertrophic cardiomyopathy 1
p.Ala531= Single submitter
p.Ala54= Single submitter
p.Ala56= Single submitter
p.Ala91= Single submitter
p.Arg249= Single submitter
p.Arg28= Single submitter
p.Arg340= Single submitter hypertrophic cardiomyopathy 1
p.Arg549= Single submitter hypertrophic cardiomyopathy 1
p.Arg552= Single submitter
p.Arg567= Single submitter
p.Arg568= Single submitter
p.Asp18= Single submitter
p.Asp223= Single submitter hypertrophic cardiomyopathy 1
p.Asp40= Single submitter hypertrophic cardiomyopathy 1
p.Asp485= Single submitter
p.Asp63= Single submitter hypertrophic cardiomyopathy 1
p.Cys245= Single submitter
p.Cys302= Single submitter
p.Glu114= Single submitter
p.Glu354= Single submitter
p.Glu360= Single submitter hypertrophic cardiomyopathy 1
p.Glu380= Single submitter
p.Gly142= Single submitter hypertrophic cardiomyopathy 1
p.Gly216= Single submitter hypertrophic cardiomyopathy 1
p.Gly222= Single submitter hypertrophic cardiomyopathy 1
p.Gly227= Single submitter
p.Gly277= Single submitter hypertrophic cardiomyopathy 1
p.Gly419= Single submitter
p.Gly444= Single submitter
p.Gly469= Single submitter hypertrophic cardiomyopathy 1
p.Gly497= Single submitter
p.Gly75= Single submitter
p.Gly83= Single submitter hypertrophic cardiomyopathy 1
p.Gly84= Single submitter
p.Gly85= Single submitter
p.His148= Single submitter hypertrophic cardiomyopathy 1
p.His269= Single submitter
p.Ile155= Single submitter
p.Ile199= Single submitter
p.Ile355= Single submitter
p.Ile390= Single submitter hypertrophic cardiomyopathy 1
p.Ile459= Single submitter hypertrophic cardiomyopathy 1
p.Ile521= Single submitter
p.Leu200= Single submitter
p.Leu291= Single submitter
p.Leu328= Single submitter
p.Leu345= Single submitter hypertrophic cardiomyopathy 1
p.Leu495= Single submitter
p.Leu554= Single submitter
p.Leu591= Single submitter hypertrophic cardiomyopathy 1
p.Lys166= Single submitter hypertrophic cardiomyopathy 1
p.Lys205= Single submitter hypertrophic cardiomyopathy 1
p.Lys237= Single submitter hypertrophic cardiomyopathy 1
p.Lys310= Single submitter
p.Lys42= Single submitter hypertrophic cardiomyopathy 1
p.Lys438= Single submitter hypertrophic cardiomyopathy 1
p.Lys52= Single submitter hypertrophic cardiomyopathy 1
p.Lys523= Single submitter
p.Lys55Glu Single submitter
p.Phe482= Single submitter hypertrophic cardiomyopathy 1
p.Phe506= Single submitter hypertrophic cardiomyopathy 1
p.Pro185= Single submitter
p.Pro321= Single submitter hypertrophic cardiomyopathy 1
p.Pro38= Single submitter hypertrophic cardiomyopathy 1
p.Pro409= Single submitter hypertrophic cardiomyopathy 1
p.Pro451= Single submitter
p.Pro69= Single submitter
p.Pro93= Single submitter
p.Ser107= Single submitter
p.Ser225= Single submitter hypertrophic cardiomyopathy 1
p.Ser284= Single submitter hypertrophic cardiomyopathy 1
p.Ser480= Single submitter hypertrophic cardiomyopathy 1
p.Ser556= Single submitter
p.Ser587= Single submitter
p.Ter597= Single submitter hypertrophic cardiomyopathy 1
p.Thr101= Single submitter hypertrophic cardiomyopathy 1
p.Thr103= Single submitter cardiomyopathy
p.Thr276= Single submitter hypertrophic cardiomyopathy 1
p.Thr320= Single submitter
p.Thr379= Single submitter hypertrophic cardiomyopathy 1
p.Thr383= Single submitter
p.Thr445= Single submitter
p.Tyr346= Single submitter
p.Val207= Single submitter
p.Val385= Single submitter hypertrophic cardiomyopathy 1
p.Val387= Single submitter hypertrophic cardiomyopathy 1
p.Val402= Single submitter
p.Val470= Single submitter hypertrophic cardiomyopathy 1
p.Val509= Single submitter hypertrophic cardiomyopathy 1
c.772+8A>T No assertion criteria MYLK2-related disorder

Uncertain significance 400

Showing the top 300 by review status; the full set is in the sitemap.

c.1577+1G>A Multiple submitters hypertrophic cardiomyopathy 1
p.Ala102Val Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ala132Val Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ala133Val Multiple submitters Sudden unexplained death ⚠
p.Ala164Ser Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ala191Val Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ala193Thr Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ala290Val Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ala2Val Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ala430Ser Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ala536Thr Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ala544Val Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ala58Thr Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ala590Ser Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ala87Thr Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ala96Val Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Arg141Lys Multiple submitters ⚠
p.Arg270Cys Multiple submitters ⚠
p.Arg270His Multiple submitters hypertrophic cardiomyopathy 1
p.Arg340Cys Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Arg340His Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Arg340Ser Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Arg388Ser Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Arg431Trp Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Arg528Trp Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Arg549Cys Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Arg549His Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Arg552Gln Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Arg552Ter Multiple submitters hypertrophic cardiomyopathy 1
p.Arg553Cys Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Arg567Lys Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Arg568Cys Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Arg581Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asn434Ser Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Asn541Ser Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Asn542Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asn551Asp Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Asp122His Multiple submitters cardiomyopathy ⚠
p.Asp323Tyr Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Asp35Glu Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Asp35His Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Cys253Trp Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Gln115Pro Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Gln221Arg Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Gln525Arg Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Gln533Arg Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Gln557His Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Glu134Asp Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Glu202Asp Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Glu250Gln Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Glu289Ala Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Glu304Lys Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Glu330Gly Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Glu350Lys Multiple submitters ⚠
p.Glu354Ter Multiple submitters hypertrophic cardiomyopathy 1
p.Glu363Lys Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Glu380Lys Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Glu437Lys Multiple submitters hypertrophic cardiomyopathy 1
p.Glu504Gln Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Glu512Gln Multiple submitters hypertrophic cardiomyopathy 1
p.Gly116Glu Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Gly11Glu Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Gly135Arg Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Gly277Arg Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Gly292Arg Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Gly33Trp Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Gly365Arg Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Gly469Arg Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Gly478Ser Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Gly589Glu Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Gly595Arg Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Gly595Glu Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Gly62Arg Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Gly64Ala Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Gly84Arg Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ile155Phe Multiple submitters cardiomyopathy ⚠
p.Ile371Thr Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ile390Val Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ile459Leu Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Leu174Phe Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Leu395Phe Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Leu50Arg Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Leu543fs Multiple submitters hypertrophic cardiomyopathy 1
p.Leu591_Ter597del Multiple submitters hypertrophic cardiomyopathy 1
p.Lys131Glu Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Lys314Gln Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Lys42Arg Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Lys584del Multiple submitters hypertrophic cardiomyopathy 1
p.Met359Thr Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Met474Val Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Met592Val Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Pro21Leu Multiple submitters ⚠
p.Pro29Thr Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Pro352Leu Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Pro39Leu Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Pro45Leu Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Pro48Leu Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Pro538Leu Multiple submitters hypertrophic cardiomyopathy 1
p.Pro69Ser Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Pro76Leu Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Pro76Ser Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Pro98Leu Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ser157Phe Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ser235Leu Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ser281Thr Multiple submitters ⚠
p.Ser588Leu Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ser588Pro Multiple submitters hypertrophic cardiomyopathy 1
p.Thr224Ile Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Thr383Ala Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Thr49Ile Multiple submitters ⚠
p.Thr505Ile Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Trp499Arg Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Tyr473His Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Val108Ile Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Val128Glu Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Val240Ala Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Val356Ile Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Val422Ala Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Val509Ile Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Val522Ile Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Val576Ile Multiple submitters hypertrophic cardiomyopathy 1 ⚠
c.1083-3C>G Single submitter
c.1295+10G>C Single submitter hypertrophic cardiomyopathy 1
c.1295+14G>A Single submitter hypertrophic cardiomyopathy 1
c.1295+1G>A Single submitter
c.1424+6C>G Single submitter hypertrophic cardiomyopathy 1
c.473+11_473+12delinsAG Single submitter hypertrophic cardiomyopathy 1
c.473+1G>A Single submitter hypertrophic cardiomyopathy 1
c.52+14G>T Single submitter hypertrophic cardiomyopathy 1
c.52+19A>T Single submitter hypertrophic cardiomyopathy 1
c.773-3C>T Single submitter hypertrophic cardiomyopathy 1
c.972+2T>C Single submitter hypertrophic cardiomyopathy 1
c.-13G>A Single submitter
c.-3C>T Single submitter cardiomyopathy
c.*10G>T Single submitter
p.213GQA[1] Single submitter hypertrophic cardiomyopathy 1
p.213GQA[3] Single submitter hypertrophic cardiomyopathy 1
p.Ala102Ser Single submitter ⚠
p.Ala113Ser Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Ala117Val Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Ala137Thr Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Ala145Pro Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Ala145Val Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Ala171Glu Single submitter ⚠
p.Ala171Thr Single submitter ⚠
p.Ala191Asp Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Ala193Glu Single submitter ⚠
p.Ala193Ser Single submitter ⚠
p.Ala201Glu Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Ala20Pro Single submitter ⚠
p.Ala20Ser Single submitter ⚠
p.Ala265Pro Single submitter ⚠
p.Ala32Ser Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Ala32Val Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Ala348Gly Single submitter
p.Ala508Thr Single submitter ⚠
p.Ala513Asp Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Ala513Ser Single submitter hypertrophic cardiomyopathy 1
p.Ala527Asp Single submitter ⚠
p.Ala531Thr Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Ala544Glu Single submitter ⚠
p.Ala54Asp Single submitter ⚠
p.Ala54Val Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Ala56fs Single submitter
p.Ala56Val Single submitter cardiomyopathy ⚠
p.Ala575Thr Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Ala578Thr Single submitter ⚠
p.Ala579Val Single submitter ⚠
p.Ala87fs Single submitter hypertrophic cardiomyopathy 1
p.Ala91Ser Single submitter ⚠
p.Arg127Ser Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Arg226Lys Single submitter ⚠
p.Arg226Thr Single submitter ⚠
p.Arg270Leu Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Arg401Gly Single submitter ⚠
p.Arg431Gln Single submitter ⚠
p.Arg528Gln Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Arg552Gly Single submitter ⚠
p.Arg567Gly Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Arg581His Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Arg82fs Single submitter hypertrophic cardiomyopathy 1
p.Asn198Thr Single submitter ⚠
p.Asn341Ser Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Asn434Tyr Single submitter ⚠
p.Asn455Thr Single submitter
p.Asn498Lys Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Asn519Lys Single submitter ⚠
p.Asn519Ser Single submitter ⚠
p.Asn542del Single submitter
p.Asn542Lys Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Asn572Ser Single submitter ⚠
p.Asn5fs Single submitter hypertrophic cardiomyopathy 1
p.Asn5Lys Single submitter ⚠
p.Asp122Val Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Asp223Asn Single submitter ⚠
p.Asp258Val Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Asp323fs Single submitter hypertrophic cardiomyopathy 1
p.Asp373Val Single submitter ⚠
p.Asp40Glu Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Asp40His Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Asp461Asn Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Asp461His Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Asp502Glu Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Asp515Tyr Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Asp63Asn Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Asp63fs Single submitter hypertrophic cardiomyopathy 1
p.Asp63Tyr Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Asp81Glu Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Cys391_Asp392delinsTer Single submitter
p.Cys550Tyr Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Gln204Arg Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Gln336Glu Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Gln557Glu Single submitter ⚠
p.Gln99fs Single submitter hypertrophic cardiomyopathy 1
p.Glu114Gly Single submitter ⚠
p.Glu134_Ala138dup Single submitter hypertrophic cardiomyopathy 1
p.Glu173Lys Single submitter ⚠
p.Glu195Asp Single submitter ⚠
p.Glu236Gln Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Glu239Ala Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Glu239Gln Single submitter ⚠
p.Glu239Lys Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Glu380Ala Single submitter ⚠
p.Glu410Gly Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Glu452Gln Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Glu489Lys Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Glu504Asp Single submitter ⚠
p.Glu512Lys Single submitter ⚠
p.Glu88Gln Single submitter ⚠
p.Gly119fs Single submitter
p.Gly124Glu Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Gly135Ser Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Gly142Asp Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Gly178Arg Single submitter ⚠
p.Gly208Arg Single submitter ⚠
p.Gly208Glu Single submitter ⚠
p.Gly222Arg Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Gly23Asp Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Gly241Ala Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Gly26Cys Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Gly294Asp Single submitter ⚠
p.Gly33= Single submitter hypertrophic cardiomyopathy 1
p.Gly33Arg Single submitter hypertrophic cardiomyopathy 1
p.Gly37Asp Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Gly393Arg Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Gly419Arg Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Gly419Glu Single submitter ⚠
p.Gly428Asp Single submitter ⚠
p.Gly428Cys Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Gly484Glu Single submitter ⚠
p.Gly589Arg Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Gly6Arg Single submitter ⚠
p.Gly6Glu Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Gly75Asp Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Gly75Ser Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Gly83Val Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Gly85Arg Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Gly89Cys Single submitter ⚠
p.Gly92Glu Single submitter ⚠
p.His148Asp Single submitter hypertrophic cardiomyopathy 1 ⚠
p.His148Leu Single submitter ⚠
p.His339Arg Single submitter cardiomyopathy ⚠
p.His353Gln Single submitter ⚠
p.His377Tyr Single submitter ⚠
p.His398Asn Single submitter ⚠
p.His398Tyr Single submitter hypertrophic cardiomyopathy 1 ⚠
p.His420fs Single submitter
p.His420Tyr Single submitter hypertrophic cardiomyopathy 1 ⚠
p.His537Tyr Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Ile228Thr Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Ile256Val Single submitter ⚠
p.Ile316Phe Single submitter ⚠
p.Ile349Phe Single submitter ⚠
p.Ile349Val Single submitter ⚠
p.Ile390Met Single submitter ⚠
p.Ile424Phe Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Ile558Leu Single submitter ⚠
p.Ile574Thr Single submitter ⚠
p.Leu257Met Single submitter ⚠
p.Leu291fs Single submitter hypertrophic cardiomyopathy 1
p.Leu291Pro Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Leu337Met Single submitter ⚠
p.Leu342Val Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Leu407Phe Single submitter ⚠
p.Leu520Phe Single submitter ⚠
p.Leu564Phe Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Lys112Arg Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Lys112Asn Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Lys125Asn Single submitter ⚠
p.Lys130Glu Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Lys192Asn Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Lys197Asn Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Lys19Arg Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Lys205Arg Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Lys288Glu Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Lys295Asn Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Lys310Asn Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Lys317Arg Single submitter ⚠
p.Lys317Asn Single submitter ⚠
p.Lys322Asn Single submitter ⚠