CRYAB — 325 ClinVar variants

All ClinVar germline CRYAB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 171 flagged for review →

12 Pathogenic · 5 Likely pathogenic · 17 Conflicting · 7 Benign · 3 Benign/Likely benign · 87 Likely benign · 194 Uncertain significance

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

⚑ Evidence disagreements 171

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

CRYAB p.Pro20Arg Pathogenic Single submitter
dilated cardiomyopathy 1II
CRYAB p.Pro20Ser Pathogenic No assertion criteria
cataract 16 multiple types

Predictors agree, ClinVar conflicts 3

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

CRYAB p.Arg107Leu Conflicting Single submitter
dilated cardiomyopathy 1II
CRYAB p.Arg12Cys Conflicting Single submitter
dilated cardiomyopathy 1II
CRYAB p.Gly154Ser Conflicting Single submitter
Cardiovascular phenotype

Predictors lean, ClinVar uncertain 80

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

CRYAB p.Ala171Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Ala4Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.Arg107Cys Uncertain significance Multiple submitters
myofibrillar myopathy 2
CRYAB p.Arg11Cys Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.Arg12Leu Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.Arg22Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Arg69Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Gln108His Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.Glu34Asp Uncertain significance Multiple submitters
fatal infantile hypertonic myofibrillar myopathy
CRYAB p.His18Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.His6Leu Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.Ile159Asn Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.Ile161Thr Uncertain significance Multiple submitters
cataract 16 multiple types
CRYAB p.Ile98Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.Leu143Phe Uncertain significance Multiple submitters
cardiomyopathy
CRYAB p.Lys121Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Lys175Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Met68Leu Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.Phe118Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Phe14Ser Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.Phe38Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Pro125Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Pro39Ser Uncertain significance Multiple submitters
cataract 16 multiple types
CRYAB p.Ser136Pro Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.Ser136Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Ser43Ala Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.Thr144Ser Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.Val145Leu Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.Val145Met Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.Val93Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Ala171Ser Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Ala4Ser Uncertain significance Single submitter
Cardiovascular phenotype
CRYAB p.Ala57Val Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Arg120Lys Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Arg12Gly Uncertain significance Single submitter
Cardiovascular phenotype
CRYAB p.Asp109Asn Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Asp109Glu Uncertain significance Single submitter
fatal infantile hypertonic myofibrillar myopathy
CRYAB p.Asp129Gly Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Gln151Glu Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Gln26Lys Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Glu106Gly Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Glu165Asp Uncertain significance Single submitter
CRYAB p.Glu71Asp Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Gly147Val Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Gly64Glu Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.His101Pro Uncertain significance Single submitter
Cardiovascular phenotype
CRYAB p.His31Tyr Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.His6Arg Uncertain significance Single submitter
Cardiovascular phenotype
CRYAB p.His7Gln Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.His83Asp Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Ile114Met Uncertain significance Single submitter
Cardiovascular phenotype
CRYAB p.Ile133Val Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Ile3Val Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Leu143Val Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Leu23Pro Uncertain significance Single submitter
Cardiovascular phenotype
CRYAB p.Leu65Ile Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Leu89Phe Uncertain significance Single submitter
CRYAB p.Lys72Met Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Lys90Asn Uncertain significance Single submitter
CRYAB p.Lys90Gln Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Lys90Glu Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Phe113Leu Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Phe118Cys Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Phe118Val Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Phe14Val Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Pro125Ala Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Pro58Ala Uncertain significance Single submitter
CRYAB p.Ser153Ala Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Ser53Phe Uncertain significance Single submitter
CRYAB p.Thr170Asn Uncertain significance Single submitter
CRYAB p.Thr42Ser Uncertain significance Single submitter
Cardiovascular phenotype
CRYAB p.Thr63Ile Uncertain significance Single submitter
CRYAB p.Val100Leu Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Val128Ala Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Val128Ile Uncertain significance Single submitter
CRYAB p.Val142Phe Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Val145Glu Uncertain significance Single submitter
Cardiovascular phenotype
CRYAB p.Val152Leu Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Val97Glu Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Leu89His Uncertain significance No assertion criteria

Predictors split 86

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

CRYAB p.Ala168Gly Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.Arg11Gly Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.Arg11His Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Arg123Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Arg123Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Arg157Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Arg157His Uncertain significance Multiple submitters
myofibrillar myopathy 2
CRYAB p.Arg163His Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Arg22His Uncertain significance Multiple submitters
myofibrillar myopathy 2
CRYAB p.Arg50Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Arg50Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Arg56Gln Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.Arg69Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Arg69His Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Arg74Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Asp127Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Asp2Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Gly29Arg Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.His101Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.His6Tyr Uncertain significance Multiple submitters
myofibrillar myopathy 2
CRYAB p.His7Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.His7Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Leu44Met Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Lys92Arg Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.Pro13Thr Uncertain significance Multiple submitters
fatal infantile hypertonic myofibrillar myopathy
CRYAB p.Pro39Ala Uncertain significance Multiple submitters
myofibrillar myopathy 2
CRYAB p.Pro39Gln Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.Pro8Ser Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.Ser45Asn Uncertain significance Multiple submitters
dilated cardiomyopathy 1II
CRYAB p.Ser45Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Thr162Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Thr40Met Uncertain significance Multiple submitters
myofibrillar myopathy 2
CRYAB p.Thr63Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
CRYAB p.Ala168Thr Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Arg107His Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Arg11Pro Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Arg12His Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Arg163Cys Conflicting Single submitter
Cardiovascular phenotype
CRYAB p.Arg22Ser Uncertain significance Single submitter
Cardiovascular phenotype
CRYAB p.Arg56Pro Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Arg56Trp Conflicting Single submitter
Cardiovascular phenotype
CRYAB p.Arg69Leu Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Arg74Gly Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Asp36Asn Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Asp36Gly Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Asp96Asn Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Asp96Gly Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Gln26His Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Glu106Asp Uncertain significance Single submitter
CRYAB p.Glu30Lys Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Gly154Asp Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Gly29Ala Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.His101Leu Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Leu37Pro Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Leu44Pro Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Leu49Pro Uncertain significance Single submitter
Cardiovascular phenotype
CRYAB p.Leu65His Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Lys121Thr Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Lys174Asn Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Lys90Arg Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Met68Ile Uncertain significance Single submitter
Cardiovascular phenotype
CRYAB p.Phe27Leu Uncertain significance Single submitter
Cardiovascular phenotype
CRYAB p.Phe47Leu Uncertain significance Single submitter
Cardiovascular phenotype
CRYAB p.Pro130Ser Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Pro13Arg Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Pro13Leu Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Pro148Arg Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Pro167Ala Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Pro16Leu Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Pro39Leu Conflicting Single submitter
Cardiovascular phenotype
CRYAB p.Pro51Leu Conflicting Single submitter
Cardiovascular phenotype
CRYAB p.Pro58His Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Pro58Leu Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Ser139Pro Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Ser153Phe Uncertain significance Single submitter
hypertrophic cardiomyopathy
CRYAB p.Ser19Phe Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Ser19Tyr Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Ser35Phe Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Ser59Asn Uncertain significance Single submitter
fatal infantile hypertonic myofibrillar myopathy
CRYAB p.Ser76Phe Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Thr132Ile Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Thr134Ile Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Thr170Ile Uncertain significance Single submitter
Cardiovascular phenotype
CRYAB p.Thr40Lys Uncertain significance Single submitter
Cardiovascular phenotype
CRYAB p.Thr63Asn Uncertain significance Single submitter
dilated cardiomyopathy 1II
CRYAB p.Asp140Asn Pathogenic No assertion criteria
cataract 16 multiple types

All CRYAB variants

Pathogenic 12

p.Ala172fs Single submitter myofibrillar myopathy 2
p.Arg11fs Single submitter dilated cardiomyopathy 1II
p.Gln26Ter Single submitter dilated cardiomyopathy 1II
p.Glu156fs Single submitter Developmental cataract
p.Leu49fs Single submitter dilated cardiomyopathy 1II
p.Pro20Arg Single submitter dilated cardiomyopathy 1II ⚠
p.Ser21fs Single submitter myofibrillar myopathy 2
p.Arg120Gly No assertion criteria myofibrillar myopathy 2
p.Asp109His No assertion criteria myofibrillar myopathy 2
p.Asp140Asn No assertion criteria cataract 16 multiple types ⚠
p.Lys150fs No assertion criteria cataract 16 multiple types
p.Pro20Ser No assertion criteria cataract 16 multiple types ⚠

Likely pathogenic 5

p.Asp109Gly Single submitter dilated cardiomyopathy 1II
p.Glu34fs Single submitter CRYAB-related disorder
p.Ter176Trp Single submitter cataract 16 multiple types
p.Thr40fs Single submitter
p.Lys175fs No assertion criteria cataract 16 multiple types

Conflicting classifications of pathogenicity 17

c.324+3A>G Single submitter dilated cardiomyopathy 1II
c.*38G>C Single submitter fatal infantile hypertonic myofibrillar myopathy
p.Arg107Leu Single submitter dilated cardiomyopathy 1II ⚠
p.Arg12Cys Single submitter dilated cardiomyopathy 1II ⚠
p.Arg163Cys Single submitter Cardiovascular phenotype ⚠
p.Arg56Trp Single submitter Cardiovascular phenotype ⚠
p.Glu99Ter Single submitter Cardiovascular phenotype
p.Gly154Ser Single submitter Cardiovascular phenotype ⚠
p.Leu23= Single submitter Cardiovascular phenotype
p.Lys174fs Single submitter CRYAB-related disorder
p.Met1Ile Single submitter Cardiovascular phenotype
p.Met1Thr Single submitter dilated cardiomyopathy 1II
p.Pro125= Single submitter fatal infantile hypertonic myofibrillar myopathy
p.Pro39Leu Single submitter Cardiovascular phenotype ⚠
p.Pro51Leu Single submitter Cardiovascular phenotype ⚠
p.Ser115= Single submitter Cardiovascular phenotype
p.Ser115fs Single submitter Cardiovascular phenotype

Benign 7

c.324+214C>T Multiple submitters
c.324+4T>G Multiple submitters Cardiovascular phenotype
c.-198-51C>G Multiple submitters dilated cardiomyopathy 1II
p.Leu55= Multiple submitters Cardiovascular phenotype
c.202-16A>G Single submitter dilated cardiomyopathy 1II
c.324+19del Single submitter dilated cardiomyopathy 1II
c.325-137G>A Single submitter

Benign/Likely benign 3

c.324+13dup Multiple submitters dilated cardiomyopathy 1II
c.-21C>T Multiple submitters fatal infantile hypertonic myofibrillar myopathy
p.Lys72= Multiple submitters Cardiovascular phenotype

Likely benign 87

c.201+14C>G Multiple submitters dilated cardiomyopathy 1II
c.202-18T>C Multiple submitters dilated cardiomyopathy 1II
c.202-340C>G Multiple submitters
c.325-170T>C Multiple submitters
p.Ala168= Multiple submitters dilated cardiomyopathy 1II
p.Ala172= Multiple submitters dilated cardiomyopathy 1II
p.Arg123= Multiple submitters Cardiovascular phenotype
p.Arg157= Multiple submitters dilated cardiomyopathy 1II
p.Arg22= Multiple submitters dilated cardiomyopathy 1II
p.Arg56= Multiple submitters dilated cardiomyopathy 1II
p.Asp2= Multiple submitters Cardiovascular phenotype
p.Gly141= Multiple submitters dilated cardiomyopathy 1II
p.His111= Multiple submitters Cardiovascular phenotype
p.His31= Multiple submitters Cardiovascular phenotype
p.Leu32= Multiple submitters dilated cardiomyopathy 1II
p.Leu65= Multiple submitters Cardiovascular phenotype
p.Phe28= Multiple submitters Cardiovascular phenotype
p.Pro39= Multiple submitters dilated cardiomyopathy 1II
p.Pro58= Multiple submitters Cardiovascular phenotype
p.Ser19= Multiple submitters Cardiovascular phenotype
p.Ser45= Multiple submitters Cardiovascular phenotype
p.Thr144= Multiple submitters dilated cardiomyopathy 1II
p.Thr158= Multiple submitters Cardiovascular phenotype
p.Thr170= Multiple submitters Cardiovascular phenotype
p.Thr40= Multiple submitters Cardiovascular phenotype
p.Thr42= Multiple submitters Cardiovascular phenotype
c.201+10C>G Single submitter dilated cardiomyopathy 1II
c.201+11C>A Single submitter dilated cardiomyopathy 1II
c.201+13A>C Single submitter dilated cardiomyopathy 1II
c.201+17C>G Single submitter dilated cardiomyopathy 1II
c.201+17C>T Single submitter dilated cardiomyopathy 1II
c.201+9C>T Single submitter dilated cardiomyopathy 1II
c.202-8A>G Single submitter dilated cardiomyopathy 1II
c.324+10T>C Single submitter dilated cardiomyopathy 1II
c.324+11T>C Single submitter dilated cardiomyopathy 1II
c.324+12G>C Single submitter dilated cardiomyopathy 1II
c.324+12G>T Single submitter dilated cardiomyopathy 1II
c.324+13T>G Single submitter dilated cardiomyopathy 1II
c.324+19T>G Single submitter dilated cardiomyopathy 1II
c.325-16C>T Single submitter dilated cardiomyopathy 1II
c.325-6G>T Single submitter dilated cardiomyopathy 1II
c.325-8T>C Single submitter dilated cardiomyopathy 1II
c.325-9T>C Single submitter dilated cardiomyopathy 1II
c.-198-155C>A Single submitter
c.-198-176C>T Single submitter
c.*16T>C Single submitter
c.*3G>C Single submitter
p.Ala4= Single submitter dilated cardiomyopathy 1II
p.Ala57= Single submitter dilated cardiomyopathy 1II
p.Arg11= Single submitter dilated cardiomyopathy 1II
p.Arg74= Single submitter dilated cardiomyopathy 1II
p.Asn146= Single submitter dilated cardiomyopathy 1II
p.Asp127= Single submitter Cardiovascular phenotype
p.Asp73= Single submitter dilated cardiomyopathy 1II
p.Glu165= Single submitter Cardiovascular phenotype
p.Gly154= Single submitter dilated cardiomyopathy 1II
p.His18= Single submitter Cardiovascular phenotype
p.His7= Single submitter Cardiovascular phenotype
p.Ile10= Single submitter Cardiovascular phenotype
p.Ile124Val Single submitter
p.Ile3= Single submitter dilated cardiomyopathy 1II
p.Leu137= Single submitter Cardiovascular phenotype
p.Leu143= Single submitter dilated cardiomyopathy 1II
p.Leu37= Single submitter dilated cardiomyopathy 1II
p.Leu44= Single submitter dilated cardiomyopathy 1II
p.Leu89= Single submitter dilated cardiomyopathy 1II
p.Leu94= Single submitter dilated cardiomyopathy 1II
p.Lys166= Single submitter dilated cardiomyopathy 1II
p.Phe14= Single submitter
p.Pro160= Single submitter dilated cardiomyopathy 1II
p.Pro167= Single submitter Cardiovascular phenotype
p.Pro173= Single submitter dilated cardiomyopathy 1II
p.Pro20= Single submitter dilated cardiomyopathy 1II
p.Pro51= Single submitter dilated cardiomyopathy 1II
p.Pro8= Single submitter dilated cardiomyopathy 1II
p.Ser135= Single submitter dilated cardiomyopathy 1II
p.Ser136= Single submitter dilated cardiomyopathy 1II
p.Ser138= Single submitter dilated cardiomyopathy 1II
p.Ser153= Single submitter Cardiovascular phenotype
p.Ser59= Single submitter Cardiovascular phenotype
p.Ser66= Single submitter dilated cardiomyopathy 1II
p.Thr132Ala Single submitter Cardiovascular phenotype
p.Thr63= Single submitter Cardiovascular phenotype
p.Val100= Single submitter dilated cardiomyopathy 1II
p.Val128= Single submitter Cardiovascular phenotype
p.Val152Ala Single submitter Cardiovascular phenotype
p.Val93= Single submitter dilated cardiomyopathy 1II

Uncertain significance 194

c.324+4_324+5delinsGT Multiple submitters Cardiovascular phenotype
c.324+4T>A Multiple submitters Cardiovascular phenotype
c.325-1G>A Multiple submitters dilated cardiomyopathy 1II
c.325-2A>G Multiple submitters Cardiovascular phenotype
c.-5C>T Multiple submitters Cardiovascular phenotype
p.Ala168Gly Multiple submitters dilated cardiomyopathy 1II ⚠
p.Ala171Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala4Thr Multiple submitters dilated cardiomyopathy 1II ⚠
p.Arg107Cys Multiple submitters myofibrillar myopathy 2 ⚠
p.Arg11Cys Multiple submitters dilated cardiomyopathy 1II ⚠
p.Arg11Gly Multiple submitters dilated cardiomyopathy 1II ⚠
p.Arg11His Multiple submitters Cardiovascular phenotype ⚠
p.Arg123Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg123Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg12Leu Multiple submitters dilated cardiomyopathy 1II ⚠
p.Arg157Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg157His Multiple submitters myofibrillar myopathy 2 ⚠
p.Arg163His Multiple submitters Cardiovascular phenotype ⚠
p.Arg22Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg22His Multiple submitters myofibrillar myopathy 2 ⚠
p.Arg50Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg50Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg56Gln Multiple submitters dilated cardiomyopathy 1II ⚠
p.Arg69Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg69His Multiple submitters Cardiovascular phenotype ⚠
p.Arg69Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg74Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asp127Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp2Asn Multiple submitters Cardiovascular phenotype ⚠
p.Gln108His Multiple submitters dilated cardiomyopathy 1II ⚠
p.Gln151Ter Multiple submitters Cardiovascular phenotype
p.Glu34Asp Multiple submitters fatal infantile hypertonic myofibrillar myopathy ⚠
p.Gly29Arg Multiple submitters dilated cardiomyopathy 1II ⚠
p.His101Asn Multiple submitters Cardiovascular phenotype ⚠
p.His18Tyr Multiple submitters Cardiovascular phenotype ⚠
p.His6Leu Multiple submitters dilated cardiomyopathy 1II ⚠
p.His6Tyr Multiple submitters myofibrillar myopathy 2 ⚠
p.His7Arg Multiple submitters Cardiovascular phenotype ⚠
p.His7Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Ile159Asn Multiple submitters dilated cardiomyopathy 1II ⚠
p.Ile161Thr Multiple submitters cataract 16 multiple types ⚠
p.Ile98Thr Multiple submitters dilated cardiomyopathy 1II ⚠
p.Leu143Phe Multiple submitters cardiomyopathy ⚠
p.Leu44Met Multiple submitters Cardiovascular phenotype ⚠
p.Lys121Arg Multiple submitters Cardiovascular phenotype ⚠
p.Lys175Ile Multiple submitters Cardiovascular phenotype ⚠
p.Lys82_His83delinsAsn Multiple submitters dilated cardiomyopathy 1II
p.Lys92Arg Multiple submitters dilated cardiomyopathy 1II ⚠
p.Met68Leu Multiple submitters dilated cardiomyopathy 1II ⚠
p.Phe118Ser Multiple submitters Cardiovascular phenotype ⚠
p.Phe14Ser Multiple submitters dilated cardiomyopathy 1II ⚠
p.Phe38Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro125Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro13Thr Multiple submitters fatal infantile hypertonic myofibrillar myopathy ⚠
p.Pro39Ala Multiple submitters myofibrillar myopathy 2 ⚠
p.Pro39Gln Multiple submitters dilated cardiomyopathy 1II ⚠
p.Pro39Ser Multiple submitters cataract 16 multiple types ⚠
p.Pro8Ser Multiple submitters dilated cardiomyopathy 1II ⚠
p.Ser136Pro Multiple submitters dilated cardiomyopathy 1II ⚠
p.Ser136Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ser43Ala Multiple submitters dilated cardiomyopathy 1II ⚠
p.Ser45Asn Multiple submitters dilated cardiomyopathy 1II ⚠
p.Ser45Gly Multiple submitters Cardiovascular phenotype ⚠
p.Thr144Ser Multiple submitters dilated cardiomyopathy 1II ⚠
p.Thr162Ile Multiple submitters Cardiovascular phenotype ⚠
p.Thr40Met Multiple submitters myofibrillar myopathy 2 ⚠
p.Thr63Ala Multiple submitters Cardiovascular phenotype ⚠
p.Val145Leu Multiple submitters dilated cardiomyopathy 1II ⚠
p.Val145Met Multiple submitters dilated cardiomyopathy 1II ⚠
p.Val93Leu Multiple submitters Cardiovascular phenotype ⚠
c.201+2_201+3dup Single submitter dilated cardiomyopathy 1II
c.201+5G>A Single submitter dilated cardiomyopathy 1II
c.201+5G>C Single submitter dilated cardiomyopathy 1II
c.202-9_214dup Single submitter dilated cardiomyopathy 1II
c.324+2T>A Single submitter Cardiovascular phenotype
c.324+3_324+4delinsGG Single submitter dilated cardiomyopathy 1II
c.324+4_324+5delinsGA Single submitter dilated cardiomyopathy 1II
c.324+5G>A Single submitter Cardiovascular phenotype
c.324+5G>T Single submitter dilated cardiomyopathy 1II
c.325-5G>T Single submitter dilated cardiomyopathy 1II
c.-2C>T Single submitter Cardiovascular phenotype
c.-9C>T Single submitter
c.*107A>G Single submitter fatal infantile hypertonic myofibrillar myopathy
c.*60G>A Single submitter fatal infantile hypertonic myofibrillar myopathy
p.Ala126fs Single submitter dilated cardiomyopathy 1II
p.Ala168Thr Single submitter dilated cardiomyopathy 1II ⚠
p.Ala171Ser Single submitter dilated cardiomyopathy 1II ⚠
p.Ala4Ser Single submitter Cardiovascular phenotype ⚠
p.Ala57Val Single submitter dilated cardiomyopathy 1II ⚠
p.Arg107His Single submitter dilated cardiomyopathy 1II ⚠
p.Arg11Pro Single submitter dilated cardiomyopathy 1II ⚠
p.Arg120Lys Single submitter dilated cardiomyopathy 1II ⚠
p.Arg12Gly Single submitter Cardiovascular phenotype ⚠
p.Arg12His Single submitter dilated cardiomyopathy 1II ⚠
p.Arg22Ser Single submitter Cardiovascular phenotype ⚠
p.Arg50_Phe54del Single submitter dilated cardiomyopathy 1II
p.Arg56Pro Single submitter dilated cardiomyopathy 1II ⚠
p.Arg69Leu Single submitter dilated cardiomyopathy 1II ⚠
p.Arg74Gly Single submitter dilated cardiomyopathy 1II ⚠
p.Asp109Asn Single submitter dilated cardiomyopathy 1II ⚠
p.Asp109Glu Single submitter fatal infantile hypertonic myofibrillar myopathy ⚠
p.Asp129Gly Single submitter dilated cardiomyopathy 1II ⚠
p.Asp36Asn Single submitter dilated cardiomyopathy 1II ⚠
p.Asp36Gly Single submitter dilated cardiomyopathy 1II ⚠
p.Asp96Asn Single submitter dilated cardiomyopathy 1II ⚠
p.Asp96Gly Single submitter dilated cardiomyopathy 1II ⚠
p.Gln108= Single submitter
p.Gln151Glu Single submitter dilated cardiomyopathy 1II ⚠
p.Gln26His Single submitter dilated cardiomyopathy 1II ⚠
p.Gln26Lys Single submitter dilated cardiomyopathy 1II ⚠
p.Glu106Asp Single submitter ⚠
p.Glu106Gly Single submitter dilated cardiomyopathy 1II ⚠
p.Glu156Ter Single submitter dilated cardiomyopathy 1II
p.Glu165Asp Single submitter ⚠
p.Glu30Lys Single submitter dilated cardiomyopathy 1II ⚠
p.Glu67= Single submitter dilated cardiomyopathy 1II
p.Glu71Asp Single submitter dilated cardiomyopathy 1II ⚠
p.Gly147Val Single submitter dilated cardiomyopathy 1II ⚠
p.Gly154Asp Single submitter dilated cardiomyopathy 1II ⚠
p.Gly29Ala Single submitter dilated cardiomyopathy 1II ⚠
p.Gly64Glu Single submitter dilated cardiomyopathy 1II ⚠
p.His101Leu Single submitter dilated cardiomyopathy 1II ⚠
p.His101Pro Single submitter Cardiovascular phenotype ⚠
p.His31Tyr Single submitter dilated cardiomyopathy 1II ⚠
p.His6Arg Single submitter Cardiovascular phenotype ⚠
p.His7Gln Single submitter dilated cardiomyopathy 1II ⚠
p.His83Asp Single submitter dilated cardiomyopathy 1II ⚠
p.Ile114Met Single submitter Cardiovascular phenotype ⚠
p.Ile133Val Single submitter dilated cardiomyopathy 1II ⚠
p.Ile3Val Single submitter dilated cardiomyopathy 1II ⚠
p.Leu143Val Single submitter dilated cardiomyopathy 1II ⚠
p.Leu23Pro Single submitter Cardiovascular phenotype ⚠
p.Leu37Pro Single submitter dilated cardiomyopathy 1II ⚠
p.Leu44Pro Single submitter dilated cardiomyopathy 1II ⚠
p.Leu49Pro Single submitter Cardiovascular phenotype ⚠
p.Leu65His Single submitter dilated cardiomyopathy 1II ⚠
p.Leu65Ile Single submitter dilated cardiomyopathy 1II ⚠
p.Leu89Phe Single submitter ⚠
p.Lys121Thr Single submitter dilated cardiomyopathy 1II ⚠
p.Lys166Ter Single submitter dilated cardiomyopathy 1II
p.Lys174Asn Single submitter dilated cardiomyopathy 1II ⚠
p.Lys72Met Single submitter dilated cardiomyopathy 1II ⚠
p.Lys90Arg Single submitter dilated cardiomyopathy 1II ⚠
p.Lys90Asn Single submitter ⚠
p.Lys90Gln Single submitter dilated cardiomyopathy 1II ⚠
p.Lys90Glu Single submitter dilated cardiomyopathy 1II ⚠
p.Met68Ile Single submitter Cardiovascular phenotype ⚠
p.Phe113Leu Single submitter dilated cardiomyopathy 1II ⚠
p.Phe118Cys Single submitter dilated cardiomyopathy 1II ⚠
p.Phe118Val Single submitter dilated cardiomyopathy 1II ⚠
p.Phe14Val Single submitter dilated cardiomyopathy 1II ⚠
p.Phe27Leu Single submitter Cardiovascular phenotype ⚠
p.Phe28del Single submitter dilated cardiomyopathy 1II
p.Phe47Leu Single submitter Cardiovascular phenotype ⚠
p.Pro125Ala Single submitter dilated cardiomyopathy 1II ⚠
p.Pro130Ser Single submitter dilated cardiomyopathy 1II ⚠
p.Pro13Arg Single submitter dilated cardiomyopathy 1II ⚠
p.Pro13Leu Single submitter dilated cardiomyopathy 1II ⚠
p.Pro148Arg Single submitter dilated cardiomyopathy 1II ⚠
p.Pro148fs Single submitter dilated cardiomyopathy 1II
p.Pro155fs Single submitter dilated cardiomyopathy 1II
p.Pro167Ala Single submitter dilated cardiomyopathy 1II ⚠
p.Pro167fs Single submitter dilated cardiomyopathy 1II
p.Pro16Leu Single submitter dilated cardiomyopathy 1II ⚠
p.Pro58Ala Single submitter ⚠
p.Pro58His Single submitter dilated cardiomyopathy 1II ⚠
p.Pro58Leu Single submitter dilated cardiomyopathy 1II ⚠
p.Ser139Pro Single submitter dilated cardiomyopathy 1II ⚠
p.Ser153Ala Single submitter dilated cardiomyopathy 1II ⚠
p.Ser153Phe Single submitter hypertrophic cardiomyopathy ⚠
p.Ser19Phe Single submitter dilated cardiomyopathy 1II ⚠
p.Ser19Tyr Single submitter dilated cardiomyopathy 1II ⚠
p.Ser35Phe Single submitter dilated cardiomyopathy 1II ⚠
p.Ser53Phe Single submitter ⚠
p.Ser59Asn Single submitter fatal infantile hypertonic myofibrillar myopathy ⚠
p.Ser76Phe Single submitter dilated cardiomyopathy 1II ⚠
p.Thr132Ile Single submitter dilated cardiomyopathy 1II ⚠
p.Thr134fs Single submitter dilated cardiomyopathy 1II
p.Thr134Ile Single submitter dilated cardiomyopathy 1II ⚠
p.Thr170Asn Single submitter ⚠
p.Thr170Ile Single submitter Cardiovascular phenotype ⚠
p.Thr40Lys Single submitter Cardiovascular phenotype ⚠
p.Thr42Ser Single submitter Cardiovascular phenotype ⚠
p.Thr63Asn Single submitter dilated cardiomyopathy 1II ⚠
p.Thr63Ile Single submitter ⚠
p.Tyr122Ter Single submitter CRYAB-related disorder
p.Val100Leu Single submitter dilated cardiomyopathy 1II ⚠
p.Val128Ala Single submitter dilated cardiomyopathy 1II ⚠
p.Val128Ile Single submitter ⚠
p.Val142Phe Single submitter dilated cardiomyopathy 1II ⚠
p.Val145Glu Single submitter Cardiovascular phenotype ⚠
p.Val152Leu Single submitter dilated cardiomyopathy 1II ⚠
p.Val97Glu Single submitter dilated cardiomyopathy 1II ⚠
p.Leu89His No assertion criteria ⚠