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Links from MedGen

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRYAB
(K54R +1 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 2
+4 more
GUncertain significance
CRYAB
(A101G +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
+1 more
GUncertain significance
CRYAB
(R107C +1 more)
Single nucleotide variant
(missense variant)
Fatal infantile hypertonic myofibrillar myopathy
+4 more
GUncertain significance
CRYAB
(F14S)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 2
+2 more
GUncertain significance
CRYAB
(P13T)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CRYAB
(K107fs +1 more)
Deletion
(frameshift variant)
Myofibrillar myopathy 2
GUncertain significance
CRYAB
(R11G)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
+5 more
GUncertain significance
CRYAB
(S59N)
Single nucleotide variant
(missense variant)
Fatal infantile hypertonic myofibrillar myopathy
+2 more
GUncertain significance
CRYAB
Single nucleotide variant
(3 prime UTR variant)
Fatal infantile hypertonic myofibrillar myopathy
+2 more
GUncertain significance
CRYAB
(I161T +1 more)
Single nucleotide variant
(missense variant)
Cataract 16 multiple types
+4 more
GUncertain significance
CRYAB
(A105fs +1 more)
Deletion
(frameshift variant)
Myofibrillar myopathy 2
GPathogenic
CRYAB
(T40M)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
+3 more
GUncertain significance
CRYAB
(P39S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
CRYAB
(K25R +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
+4 more
GUncertain significance
CRYAB
(P39A)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CRYAB
(R22H)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 2
+4 more
GUncertain significance
CRYAB
Duplication
(intron variant)
not specified
+4 more
GBenign/Likely benign
CRYAB
(R123W +1 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 2
+4 more
GUncertain significance
CRYAB
(E34D)
Single nucleotide variant
(missense variant)
Myofibrillar Myopathy, Dominant
+4 more
GUncertain significance
CRYAB
Single nucleotide variant
(3 prime UTR variant)
Cataract 16 multiple types
+2 more
GConflicting classifications of pathogenicity
CRYAB
Single nucleotide variant
(3 prime UTR variant)
Myofibrillar Myopathy, Dominant
+2 more
GUncertain significance
CRYAB
(H6Y)
Single nucleotide variant
(missense variant)
Cataract 16 multiple types
+4 more
GUncertain significance
CRYAB
(P39L)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
+6 more
GConflicting classifications of pathogenicity
CRYAB
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+6 more
GBenign
CRYAB
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+6 more
GBenign
CRYAB
(P51L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
CRYAB
(D109H +1 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 2
GPathogenic
CRYAB
(R56W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
CRYAB
(R157H +1 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 2
+4 more
GUncertain significance
CRYAB
(S48fs +1 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1II
+5 more
GConflicting classifications of pathogenicity
CRYAB
(S21fs)
Deletion
(frameshift variant)
Myofibrillar myopathy 2
GPathogenic
CRYAB
(Q151* +1 more)
Single nucleotide variant
(nonsense)
Myofibrillar myopathy 2
GPathogenic
CRYAB
(P88fs +1 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
(R120G +1 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 2
GPathogenic
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