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Links from MedGen

Items: 1 to 100 of 206

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNNI2
(R162S)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 2B1
GLikely pathogenic
TNNI2
Single nucleotide variant
(splice acceptor variant)
Distal arthrogryposis type 2B1
GLikely pathogenic
TNNI2
(E166*)
Single nucleotide variant
(nonsense)
Distal arthrogryposis type 2B1
GLikely pathogenic
TNNI2
Microsatellite
(splice donor variant)
Distal arthrogryposis type 2B1
GUncertain significance
TNNI2
(S169*)
Duplication
(nonsense)
Distal arthrogryposis type 2B1
GLikely pathogenic
TNNI2
Single nucleotide variant
(splice acceptor variant)
Distal arthrogryposis type 2B1
GUncertain significance
TNNI2
(L123P)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 2B1
GUncertain significance
TNNI2
(R174W)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 2B1
GLikely pathogenic
TNNI2
(F178I)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 2B1
GUncertain significance
TNNT3
Single nucleotide variant
(intron variant)
Distal arthrogryposis type 2B1
GUncertain significance
TNNT3
(V249L +8 more)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 2B1
GUncertain significance
TNNI2
(M177T)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 2B1
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)
Distal arthrogryposis type 2B1
+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)
Freeman-Sheldon syndrome
+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)
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
(K1084N)
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
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
(R1383H)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 2B1
+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)
Distal arthrogryposis type 2B1
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
(E1149Q)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 2B1
+3 more
GBenign/Likely benign
MYH3
(S1240T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+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)
Distal arthrogryposis type 2B1
+3 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)
Distal arthrogryposis type 2B1
+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)
Distal arthrogryposis type 2B1
+3 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)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
Distal arthrogryposis type 2B1
+2 more
GConflicting classifications of pathogenicity
TNNT3
Single nucleotide variant
(3 prime UTR variant)
Distal arthrogryposis type 2B1
GUncertain significance
TNNT3
(E18G +8 more)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 2B1
GUncertain significance
TNNI2
Single nucleotide variant
(intron variant)
Distal arthrogryposis type 2B1
GUncertain significance
TNNI2
Single nucleotide variant
(synonymous variant)
Distal arthrogryposis type 2B1
GUncertain significance
TNNT3
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TNNT3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TNNT3
(G147S +8 more)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 2B1
GUncertain significance
TNNI2
Single nucleotide variant
(5 prime UTR variant)
Distal arthrogryposis type 2B1
GUncertain significance
TNNT3
(K163R +8 more)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 2B1
GUncertain significance
MYH3
(T1692A)
Single nucleotide variant
(missense variant)
MYH3-related disorder
+4 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
MYH3-related disorder
+3 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)
not provided
+2 more
GBenign/Likely benign
MYH3
Single nucleotide variant
(synonymous variant)
MYH3-related disorder
+3 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)
MYH3-related disorder
+3 more
GBenign/Likely benign
TNNI2
(I165F)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 2B1
GPathogenic
TPM2
(Q103K)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 2B1
GLikely pathogenic
MYH3
(E1377Q)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1A
+3 more
GUncertain significance
TPM2
(Q276E)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1A
+2 more
GUncertain significance
MYH3
(R1609K)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 2B1
GUncertain significance
TNNI2
Single nucleotide variant
(intron variant)
Distal arthrogryposis type 2B1
+1 more
GBenign
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)
Freeman-Sheldon syndrome
+2 more
GConflicting classifications of pathogenicity
MYH3
(Q56E)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+3 more
GConflicting classifications of pathogenicity
MYH3
(P83R)
Single nucleotide variant
(missense variant)
Freeman-Sheldon syndrome
+3 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(synonymous variant)
Freeman-Sheldon syndrome
+4 more
GBenign/Likely benign
MYH3
(E138K)
Single nucleotide variant
(missense variant)
not provided
+3 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
+3 more
GBenign/Likely benign
MYH3
Single nucleotide variant
(intron variant)
Freeman-Sheldon syndrome
+3 more
GConflicting classifications of pathogenicity
MYH3
Single nucleotide variant
(intron variant)
Freeman-Sheldon syndrome
+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
+3 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
+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
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