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Links from MedGen

Items: 1 to 100 of 106

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRRAP
(S2212A +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(T1271A)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(V2841L +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(V383M)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(A973S)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
LOC126860121, TRRAP
(E1660G +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(A3595V +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(K3529N +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(Q346*)
Single nucleotide variant
(nonsense)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(T3598S +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(S2718G +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(R3230C +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(L2904Q +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(A1912V +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(L1177H)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(P3582S +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(R2316C +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(R2450C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TRRAP
(R171H)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
+1 more
GUncertain significance
TRRAP
(P753L)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(C1099S)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(E3514D +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(S2083F +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(R2042C +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
+1 more
GUncertain significance
TRRAP
(Y2218H +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(A3721V +2 more)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 75
+1 more
GUncertain significance
TRRAP
(K2449T +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(H1005Q)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(L3519V +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(E3068K +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(A522fs)
Insertion
(frameshift variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(P1914L +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GLikely pathogenic
TRRAP
(W2356* +2 more)
Single nucleotide variant
(nonsense)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(R2899C +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
Duplication
(inframe_insertion)
not provided
GUncertain significance
TRRAP
(G1111R)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(L820I)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(K1577E +2 more)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 75
+1 more
GUncertain significance
TRRAP
(M2892T +2 more)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 75
+1 more
GUncertain significance
TRRAP
(M1967L +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
+1 more
GUncertain significance
LOC126860121, TRRAP
(F1697L +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(M3362T +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(R204C)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
+1 more
GUncertain significance
TRRAP
(A3019T +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TRRAP
(G1160V)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GLikely pathogenic
TRRAP
(V2692I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TRRAP
(E1224K)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
Single nucleotide variant
(intron variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(A1970T +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
Single nucleotide variant
(splice donor variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(F3652L +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(R3596W +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(L1884R +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GLikely pathogenic
TRRAP
(M2520I +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(R3821H +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(R3241Q +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(P1292T)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GLikely pathogenic
TRRAP
(R2750Q +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(R431H)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(H1879R +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(H152R)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(T2689S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TRRAP
(S886I)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(Q936R)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(L3308F +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(Y959D)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(S3033C +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
Single nucleotide variant
(intron variant)
Developmental delay with or without dysmorphic facies and autism
GLikely pathogenic
TRRAP
(Q1067*)
Single nucleotide variant
(nonsense)
Developmental delay with or without dysmorphic facies and autism
GLikely pathogenic
TRRAP
(R3142Q +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
+2 more
GUncertain significance
TRRAP
(T2635M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TRRAP
(M1923V +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
Gnot provided
TRRAP
(K2173R +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(K20R)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(R1015L)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(N2932S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TRRAP
(L1177F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TRRAP
(A3812T +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(R1035Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
TRRAP
(R1035W)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(T2951M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRRAP
(Y3499H +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
TRRAP
Single nucleotide variant
(intron variant)
Hearing loss, autosomal dominant 75
+2 more
GBenign
TRRAP
(M3362L +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
+1 more
GUncertain significance
TRRAP
(M2779L +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
Single nucleotide variant
(synonymous variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(V184M)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
+1 more
GUncertain significance
TRRAP
(E1104G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
TRRAP
(A3626V +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(V1902I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TRRAP
(G1159R)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GPathogenic
TRRAP
(Y1049N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TRRAP
(H337R)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
+1 more
GUncertain significance
TRRAP
(R1841C +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TRRAP
(D35G)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(L880V)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(M3275V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
TRRAP
(K1880E +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
+1 more
GConflicting classifications of pathogenicity
TRRAP
(T1209M)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
+1 more
GUncertain significance
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