U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH3
(K235E)
Single nucleotide variant
(missense variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+2 more
GLikely pathogenic
MYH3
(P542T)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 2B3
GLikely pathogenic
MYH3
Duplication
(intron variant)
not provided
+4 more
GBenign
MYH3
Deletion
(intron variant)
not provided
+4 more
GBenign
MYH3
(V825I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
MYH3
(K964R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MYH3
(M798V)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 2B3
GUncertain significance
MYH3
(N1751D)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 2B3
GUncertain significance
MYH3
(F1825L)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 2B3
GUncertain significance
LOC130060295, MYH3
(E1469fs)
Duplication
(frameshift variant)
Arthrogryposis, distal, type 2B3
GLikely pathogenic
MYH3
(D517Y)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 2B3
GUncertain significance
MYH3
(S261F)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 2B3
GLikely pathogenic
MYH3
(Y387C)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 2B3
GPathogenic
MYH3
Single nucleotide variant
(splice donor variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+2 more
GPathogenic/Likely pathogenic
MYH3
Deletion
(intron variant)
Freeman-Sheldon syndrome
+5 more
GBenign/Likely benign
MYH3
(T1160M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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)
not provided
+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 specified
+5 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
(R1137C)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 2B1
+6 more
GBenign/Likely benign
MYH3
Single nucleotide variant
(intron variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+6 more
GBenign
MYH3
Single nucleotide variant
(intron variant)
not specified
+6 more
GBenign
MYH3
Single nucleotide variant
(intron variant)
not provided
+6 more
GBenign
MYH3
Single nucleotide variant
(synonymous variant)
Freeman-Sheldon syndrome
+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
(V40M)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+4 more
GUncertain significance
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
(synonymous 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)
not provided
+6 more
GBenign
MYH3
(A234T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
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
(L864del)
Deletion
(inframe_deletion)
Arthrogryposis, distal, type 2B3
GPathogenic
MYH3
(T178I)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 2B3
+3 more
GPathogenic
Format
Items per page
Sort by
Choose Destination