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Links from MedGen

Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH3
(D1574V)
Single nucleotide variant
(missense variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
GUncertain significance
MYH3
(M823V)
Single nucleotide variant
(missense variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
GUncertain significance
MYH3
(K235E)
Single nucleotide variant
(missense variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+2 more
GLikely pathogenic
MYH3
(R244C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYH3
(A386S)
Single nucleotide variant
(missense variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
GUncertain significance
MYH3
(Q1076P)
Single nucleotide variant
(missense variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
GUncertain significance
MYH3
(A162T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYH3
(Q1371*)
Single nucleotide variant
(nonsense)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+1 more
GPathogenic/Likely pathogenic
MYH3
(R724*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
MYH3
Duplication
(intron variant)
not provided
+4 more
GBenign
MYH3
Deletion
(intron variant)
not provided
+4 more
GBenign
MYH3
(Q1873P)
Single nucleotide variant
(missense variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
GUncertain significance
MYH3
(F287V)
Single nucleotide variant
(missense variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
GLikely pathogenic
MYH3
(L1344P)
Single nucleotide variant
(missense variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
GUncertain significance
MYH3
(T333R)
Single nucleotide variant
(missense variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
GLikely pathogenic
MYH3
Single nucleotide variant
(splice donor variant)
MYH3-related disorder
+4 more
GPathogenic/Likely pathogenic
MYH3
(S242F +1 more)
Single nucleotide variant
(missense variant)
Spondylocarpotarsal synostosis syndrome
+1 more
GUncertain significance
MYH3
Deletion
(intron variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+1 more
GPathogenic
MYH3
(Y47*)
Single nucleotide variant
(nonsense)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+1 more
GPathogenic
MYH3
Single nucleotide variant
(splice donor variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+2 more
GPathogenic/Likely pathogenic
MYH3
Single nucleotide variant
(splice donor variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+1 more
GPathogenic
MYH3
(E1377Q)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1A
+3 more
GUncertain significance
MYH3
(N662fs)
Deletion
(frameshift variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYH3
Deletion
(intron variant)
Freeman-Sheldon syndrome
+5 more
GBenign/Likely benign
MYH3
Single nucleotide variant
(intron variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+5 more
GBenign
MYH3
Duplication
(intron variant)
Contractures, pterygia, and variable skeletal fusions syndrome 1B
+6 more
GBenign/Likely benign
MYH3
Single nucleotide variant
(intron variant)
Contractures, pterygia, and variable skeletal fusions syndrome 1B
+5 more
GBenign
MYH3
Single nucleotide variant
(intron variant)
Contractures, pterygia, and variable skeletal fusions syndrome 1B
+5 more
GBenign
MYH3
Single nucleotide variant
(intron variant)
Contractures, pterygia, and variable skeletal fusions syndrome 1B
+5 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 provided
+5 more
GBenign/Likely benign
MYH3
(R1137C)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+6 more
GBenign/Likely benign
MYH3
Single nucleotide variant
(intron variant)
not specified
+6 more
GBenign
MYH3
Single nucleotide variant
(intron variant)
not specified
+6 more
GBenign
MYH3
Single nucleotide variant
(intron variant)
not specified
+6 more
GBenign
MYH3
Single nucleotide variant
(synonymous variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+6 more
GBenign/Likely benign
MYH3
Single nucleotide variant
(intron variant)
Contractures, pterygia, and variable skeletal fusions syndrome 1B
+5 more
GBenign
MYH3
Single nucleotide variant
(intron variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+5 more
GBenign
MYH3
Duplication
(inframe_insertion)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
GPathogenic
MYH3
(S243del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GLikely pathogenic
MYH3
(Q1075P)
Single nucleotide variant
(missense variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
GPathogenic
MYH3
(V40M)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+4 more
GUncertain significance
MYH3
Single nucleotide variant
(synonymous variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+6 more
GBenign
MYH3
(A1192T)
Single nucleotide variant
(missense variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+6 more
GBenign
MYH3
Single nucleotide variant
(synonymous variant)
Freeman-Sheldon syndrome
+6 more
GBenign
MYH3
Single nucleotide variant
(synonymous variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+6 more
GBenign
MYH3
Single nucleotide variant
(synonymous variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+6 more
GBenign
MYH3
Single nucleotide variant
(synonymous variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+6 more
GBenign
MYH3
Single nucleotide variant
(synonymous variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+6 more
GBenign
MYH3
(A234T)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 2B1
+3 more
GLikely pathogenic
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