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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH3
Single nucleotide variant
(intron variant)
Freeman-Sheldon syndrome
+3 more
GBenign
MYH3
(A1244V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
MYH3
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
(A1198T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
MYH3
Duplication
(intron variant)
Arthrogryposis multiplex congenita
+2 more
GConflicting classifications of pathogenicity
MYH3
Deletion
(intron variant)
Freeman-Sheldon syndrome
+5 more
GBenign/Likely benign
MYH3
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
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