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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRYAB
(G154S +1 more)
Single nucleotide variant
(missense variant)
CRYAB-related condition
+10 more
GConflicting classifications of pathogenicity
CRYAB
(S48fs +1 more)
Deletion
(frameshift variant)
Myofibrillar myopathy 2
+4 more
GPathogenic/Likely pathogenic
CRYAB
(P51L)
Single nucleotide variant
(missense variant)
CRYAB-related condition
+8 more
GConflicting classifications of pathogenicity
CRYAB
(R50Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
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