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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH3
(D517Y)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 2B3
GUncertain significance
MYH3
(D462G)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 2B3
GUncertain significance
MYH3
(E375K)
Single nucleotide variant
(missense variant)
MYH3-related disorder
+2 more
GConflicting classifications of pathogenicity
MYH3
(S261F)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 2B3
GLikely pathogenic
MYH3
(T178I)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 2B3
+3 more
GPathogenic
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