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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH3
Single nucleotide variant
(intron variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+5 more
GBenign
MYH3
Duplication
(intron variant)
not provided
+6 more
GBenign/Likely benign
MYH3
Single nucleotide variant
(intron variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+5 more
GBenign
MYH3
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
MYH3
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign
MYH3
(A1192T)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+6 more
GBenign
MYH3
Single nucleotide variant
(synonymous variant)
Freeman-Sheldon syndrome
+6 more
GBenign
MYH3
Single nucleotide variant
(synonymous variant)
Freeman-Sheldon syndrome
+6 more
GBenign
MYH3
Single nucleotide variant
(intron variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+6 more
GBenign
MYH3
Single nucleotide variant
(synonymous variant)
Freeman-Sheldon syndrome
+6 more
GBenign
MYH3
Deletion
(intron variant)
not provided
+4 more
GBenign
MYH3
Single nucleotide variant
(synonymous variant)
Freeman-Sheldon syndrome
+6 more
GBenign
MYH3
Single nucleotide variant
(intron variant)
not specified
+6 more
GBenign
MYH3
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign
MYH3
Deletion
(intron variant)
Freeman-Sheldon syndrome
+5 more
GBenign/Likely benign
MYH3
Single nucleotide variant
(intron variant)
not provided
+6 more
GBenign
MYH3
Single nucleotide variant
(intron variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+5 more
GBenign
MYH3
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
MYH3
Duplication
(intron variant)
not provided
+4 more
GBenign
MYH3
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign
MYH3
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign/Likely benign
MYH3
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign
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