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Links from MedGen

Items: 1 to 100 of 189

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH3
(V1606L)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
GUncertain significance
MYH3
(V699D)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
GLikely pathogenic
MYH3
(K235E)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 2B3
+2 more
GLikely pathogenic
MYH3
Microsatellite
(splice donor variant)
Freeman-Sheldon syndrome
GLikely pathogenic
MYH3
(G769S)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
GUncertain significance
MYH3
Duplication
(intron variant)
Arthrogryposis, distal, type 2B3
+4 more
GBenign
MYH3
Deletion
(intron variant)
Arthrogryposis, distal, type 2B3
+4 more
GBenign
MYH3
(S119L)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
GUncertain significance
MYH3
(V923L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYH3
(K964R)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+1 more
GUncertain significance
MYH3
Single nucleotide variant
(synonymous variant)
Distal arthrogryposis type 2B1
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
Freeman-Sheldon syndrome
+1 more
GConflicting classifications of pathogenicity
MYH3
(P100S)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+1 more
GConflicting classifications of pathogenicity
MYH3
(Y116C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
(D377G)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+1 more
GUncertain significance
MYH3
(C906S)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+1 more
GUncertain significance
MYH3
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
(R170H)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+1 more
GUncertain significance
MYH3
(R191W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
Freeman-Sheldon syndrome
+1 more
GUncertain significance
MYH3
(K543M)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+1 more
GUncertain significance
MYH3
Single nucleotide variant
(synonymous variant)
Distal arthrogryposis type 2B1
+2 more
GConflicting classifications of pathogenicity
MYH3
(D1744G)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
MYH3
(K1084N)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+1 more
GUncertain significance
MYH3
Single nucleotide variant
(synonymous variant)
Freeman-Sheldon syndrome
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
(R1383H)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+2 more
GUncertain significance
MYH3
Single nucleotide variant
(synonymous variant)
Freeman-Sheldon syndrome
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
Freeman-Sheldon syndrome
+2 more
GConflicting classifications of pathogenicity
MYH3
(E1149Q)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+2 more
GBenign/Likely benign
MYH3
(S1240T)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+3 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
Distal arthrogryposis type 2B1
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
Freeman-Sheldon syndrome
+2 more
GBenign/Likely benign
MYH3
Single nucleotide variant
(intron variant)
Freeman-Sheldon syndrome
+1 more
GUncertain significance
MYH3
Single nucleotide variant
(synonymous variant)
Freeman-Sheldon syndrome
+1 more
GUncertain significance
MYH3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
(D1178N)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 2B1
+2 more
GConflicting classifications of pathogenicity
MYH3
(E1284K)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
Distal arthrogryposis type 2B1
+1 more
GUncertain significance
MYH3
(K1484R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
MYH3
(I1510T)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 2B1
+1 more
GUncertain significance
MYH3
(R1531G)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+1 more
GUncertain significance
MYH3
Single nucleotide variant
(synonymous variant)
Freeman-Sheldon syndrome
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
Duplication
(intron variant)
not provided
+1 more
GBenign
MYH3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MYH3
Microsatellite
(intron variant)
not provided
+1 more
GBenign
MYH3
(T1692A)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+2 more
GBenign/Likely benign
MYH3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(intron variant)
Distal arthrogryposis type 2B1
+2 more
GConflicting classifications of pathogenicity
MYH3
(R1130H)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 2B1
+2 more
GBenign/Likely benign
MYH3
Single nucleotide variant
(synonymous variant)
Distal arthrogryposis type 2B1
+2 more
GBenign/Likely benign
MYH3
Single nucleotide variant
(synonymous variant)
Distal arthrogryposis type 2B1
+2 more
GBenign/Likely benign
MYH3
(A1604T)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
Freeman-Sheldon syndrome
+2 more
GBenign/Likely benign
MYH3
Single nucleotide variant
(synonymous variant)
Freeman-Sheldon syndrome
+2 more
GBenign/Likely benign
MYH3
(Y583S)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
GPathogenic
MYH3
Single nucleotide variant
(5 prime UTR variant)
Freeman-Sheldon syndrome
+1 more
GBenign/Likely benign
MYH3
Single nucleotide variant
(5 prime UTR variant)
Distal arthrogryposis type 2B1
+1 more
GUncertain significance
MYH3
Single nucleotide variant
(5 prime UTR variant)
Distal arthrogryposis type 2B1
+1 more
GUncertain significance
MYH3
Single nucleotide variant
(intron variant)
Distal arthrogryposis type 2B1
+1 more
GUncertain significance
MYH3
(M7V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
(Q56E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
MYH3
(P83R)
Single nucleotide variant
(missense variant)
MYH3-Related Disorders
+3 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
MYH3
(E138K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
MYH3
(K147R)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 2B1
+1 more
GUncertain significance
MYH3
Single nucleotide variant
(synonymous variant)
Distal arthrogryposis type 2B1
+1 more
GUncertain significance
MYH3
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
MYH3
Single nucleotide variant
(intron variant)
Freeman-Sheldon syndrome
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
(I304V)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+1 more
GUncertain significance
MYH3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(intron variant)
Freeman-Sheldon syndrome
+1 more
GUncertain significance
MYH3
(R404T)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+2 more
GUncertain significance
MYH3
(Y471H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
Distal arthrogryposis type 2B1
+2 more
GBenign/Likely benign
MYH3
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
MYH3
(K568R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
Freeman-Sheldon syndrome
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(intron variant)
Freeman-Sheldon syndrome
+1 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
MYH3
Deletion
(intron variant)
not provided
+5 more
GBenign/Likely benign
MYH3
Duplication
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
MYH3
(A791T)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+1 more
GUncertain significance
MYH3
(P829L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
MYH3
Single nucleotide variant
(intron variant)
Freeman-Sheldon syndrome
+2 more
GConflicting classifications of pathogenicity
MYH3
(T938K)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+1 more
GUncertain significance
MYH3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
MYH3
(R1046Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
MYH3
(V1047I)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+2 more
GConflicting classifications of pathogenicity
MYH3
(G1058E)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+1 more
GUncertain significance
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