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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH9
(R1703Q)
Single nucleotide variant
(missense variant)
MYH9-related disorder
+4 more
GConflicting classifications of pathogenicity
MYH9
(S1243L)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 17
+1 more
GUncertain significance
MYH9
(R718W)
Single nucleotide variant
(missense variant)
MYH9-related disorder
+4 more
GPathogenic/Likely pathogenic
MYH9
(Y278C)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
+2 more
GUncertain significance
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