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Items: 1 to 100 of 307

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006930, LOC130006931
+1199 more
Copy number gain
See cases
GPathogenic
ALG9, BCO2
+45 more
Copy number gain
See cases
GUncertain significance
CRYAB
Single nucleotide variant
(3 prime UTR variant)
Myofibrillar Myopathy, Dominant
+2 more
GUncertain significance
CRYAB
Single nucleotide variant
(3 prime UTR variant)
Fatal infantile hypertonic myofibrillar myopathy
+2 more
GUncertain significance
CRYAB
Single nucleotide variant
(3 prime UTR variant)
Myofibrillar Myopathy, Dominant
+2 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)
not specified
GLikely benign
CRYAB
Duplication
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
CRYAB
(K108fs +1 more)
Deletion
(frameshift variant)
Cataract 16 multiple types
GLikely pathogenic
CRYAB
(K108I +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
(K107N +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1II
GLikely benign
CRYAB
(K107fs +1 more)
Deletion
(frameshift variant)
Myofibrillar myopathy 2
GUncertain significance
CRYAB
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
CRYAB
(A105fs +1 more)
Deletion
(frameshift variant)
Myofibrillar myopathy 2
GPathogenic
CRYAB
(A104S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
(A171T +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
CRYAB
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
CRYAB
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
CRYAB
(T103N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CRYAB
(T170I +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CRYAB
(P100fs +1 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1II
+1 more
GLikely benign
CRYAB
(A101G +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
+1 more
GUncertain significance
CRYAB
(P100A +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1II
GLikely benign
CRYAB
(K166* +1 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
(E165D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CRYAB
(R163H +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
+2 more
GUncertain significance
CRYAB
(R163C +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
+3 more
GUncertain significance
CRYAB
(T162I +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
+1 more
GUncertain significance
CRYAB
(I161T +1 more)
Single nucleotide variant
(missense variant)
Cataract 16 multiple types
+4 more
GUncertain significance
CRYAB
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1II
GLikely benign
CRYAB
(I159N +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
+1 more
GUncertain significance
CRYAB
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1II
GLikely benign
CRYAB
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1II
+1 more
GLikely benign
CRYAB
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
CRYAB
(R157H +1 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 2
+4 more
GUncertain significance
CRYAB
(R90C +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
CRYAB
(E156* +1 more)
Duplication
(nonsense)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
(E156fs +1 more)
Deletion
(frameshift variant)
Developmental cataract
GPathogenic
CRYAB
(P88fs +1 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
(G154D +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
(G154S +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+10 more
GConflicting classifications of pathogenicity
CRYAB
(S153F +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
CRYAB
(S153A +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
(Q84E +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
(Q151* +1 more)
Single nucleotide variant
(nonsense)
Myofibrillar myopathy 2
GPathogenic
CRYAB
(K83fs +1 more)
Deletion
(frameshift variant)
Cataract 16 multiple types
GPathogenic
CRYAB
(G80V +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1II
GLikely benign
CRYAB
(V145M +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
+1 more
GUncertain significance
CRYAB
(V145L +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
+1 more
GUncertain significance
CRYAB
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1II
GLikely benign
CRYAB
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1II
GLikely benign
CRYAB
(L76V +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
(L76F +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
CRYAB
(V142F +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1II
GLikely benign
CRYAB
(D140N +1 more)
Single nucleotide variant
(missense variant)
Cataract 16 multiple types
GPathogenic
CRYAB
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1II
GLikely benign
CRYAB
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1II
GLikely benign
CRYAB
(S136T +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
+2 more
GUncertain significance
CRYAB
(T134I +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
(I133V +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
(T132I +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
(D62G +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
(V128I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CRYAB
(D127E +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
(A59fs +1 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
Single nucleotide variant
(synonymous variant)
Myofibrillar Myopathy, Dominant
+3 more
GConflicting classifications of pathogenicity
CRYAB
(P125A +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
(P125S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
+1 more
GUncertain significance
CRYAB
(I124V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CRYAB
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1II
+1 more
GLikely benign
CRYAB
(R123Q +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
CRYAB
(R123W +1 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 2
+4 more
GUncertain significance
CRYAB
(K54R +1 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 2
+4 more
GUncertain significance
CRYAB
(K121T +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
(R120G +1 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 2
GPathogenic
CRYAB
(F118S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
CRYAB
(F118V +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GUncertain significance
CRYAB
(S48fs +1 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1II
+5 more
GConflicting classifications of pathogenicity
CRYAB
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1II
+2 more
GLikely benign
CRYAB
(D109E +1 more)
Single nucleotide variant
(missense variant)
Fatal infantile hypertonic myofibrillar myopathy
GUncertain significance
CRYAB
(D109G +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
GLikely pathogenic
CRYAB
(D109H +1 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 2
GPathogenic
CRYAB
Single nucleotide variant
(splice acceptor variant)
Cardiovascular phenotype
+3 more
GUncertain significance
CRYAB
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1II
GLikely benign
CRYAB
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1II
GLikely benign
CRYAB
Single nucleotide variant
(intron variant)
not provided
GBenign
CRYAB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CRYAB
Single nucleotide variant
(intron variant)
not provided
GBenign
CRYAB
Duplication
(intron variant)
not specified
+4 more
GBenign/Likely benign
CRYAB
Deletion
(intron variant)
Dilated cardiomyopathy 1II
GBenign
CRYAB
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1II
GLikely benign
CRYAB
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1II
GLikely benign
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