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Items: 1 to 100 of 114

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRIO
(A12T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
TRIO
(S14F)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TRIO
(A23T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
TRIO
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
TRIO
Single nucleotide variant
(synonymous variant +1 more)
TRIO-related disorder
GLikely benign
TRIO
(Q238R)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
TRIO
Single nucleotide variant
(synonymous variant +1 more)
TRIO-related disorder
GLikely benign
TRIO
(S297L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TRIO
(M392I)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
TRIO
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
TRIO
(M402L)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
TRIO
(E476D)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
TRIO
Single nucleotide variant
(synonymous variant +1 more)
TRIO-related disorder
+1 more
GBenign
TRIO
(E543K)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
TRIO
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
TRIO
(L652V)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
TRIO
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
TRIO
(T685M)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GLikely benign
TRIO
(R712H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
TRIO
Single nucleotide variant
(synonymous variant +1 more)
TRIO-related disorder
GUncertain significance
TRIO
Single nucleotide variant
(intron variant)
TRIO-related disorder
GLikely benign
TRIO
(Q898K)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
TRIO
(A937T)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
TRIO
Single nucleotide variant
(intron variant)
TRIO-related disorder
GLikely benign
TRIO
(V1010I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TRIO
(R1078Q)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
+3 more
GPathogenic/Likely pathogenic
TRIO
(L1085R)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
TRIO
(T1100M)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
TRIO
Single nucleotide variant
(intron variant)
TRIO-related disorder
GLikely benign
TRIO
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
TRIO
Duplication
(intron variant)
TRIO-related disorder
GUncertain significance
TRIO
(I1296V)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
TRIO
(V1326M)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
TRIO
(R1428Q)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
+2 more
GPathogenic
TRIO
(K1431M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GPathogenic
TRIO
(E1592K)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GLikely pathogenic
TRIO
Single nucleotide variant
(synonymous variant +1 more)
TRIO-related disorder
+1 more
GLikely benign
TRIO
Single nucleotide variant
(intron variant)
TRIO-related disorder
GLikely benign
LOC126807322, TRIO
Single nucleotide variant
(intron variant)
TRIO-related disorder
GLikely benign
LOC126807322, TRIO
Single nucleotide variant
(synonymous variant +1 more)
TRIO-related disorder
+1 more
GLikely benign
TRIO
(G1680S)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
+1 more
GUncertain significance
TRIO
(A1706V)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GLikely benign
TRIO
Single nucleotide variant
(synonymous variant +1 more)
TRIO-related disorder
+1 more
GLikely benign
TRIO
(K1794R)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
TRIO
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
TRIO
(S1809T)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
TRIO
Single nucleotide variant
(synonymous variant +1 more)
TRIO-related disorder
GLikely benign
TRIO
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
TRIO
Single nucleotide variant
(synonymous variant +1 more)
TRIO-related disorder
GLikely benign
TRIO
Single nucleotide variant
(intron variant)
TRIO-related disorder
GBenign
TRIO
(S1891P)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
+1 more
GConflicting classifications of pathogenicity
TRIO
(R1893P)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
TRIO
Single nucleotide variant
(synonymous variant +1 more)
TRIO-related disorder
+1 more
GLikely benign
TRIO
Single nucleotide variant
(synonymous variant +1 more)
TRIO-related disorder
+1 more
GLikely benign
TRIO
(N1947D)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GLikely pathogenic
TRIO
Single nucleotide variant
(synonymous variant +1 more)
TRIO-related disorder
GLikely benign
TRIO
Single nucleotide variant
(intron variant)
TRIO-related disorder
GLikely benign
TRIO
(A1997T)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
+2 more
GLikely benign
TRIO
(G2010fs)
Deletion
(frameshift variant +1 more)
TRIO-related disorder
GLikely pathogenic
TRIO
(K2036R)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
TRIO
(E2039D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
TRIO
(I2098T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TRIO
Single nucleotide variant
(intron variant)
TRIO-related disorder
GLikely benign
TRIO
Single nucleotide variant
(synonymous variant +1 more)
TRIO-related disorder
GLikely benign
TRIO
(T2239A)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
+1 more
GUncertain significance
TRIO
Single nucleotide variant
(synonymous variant +1 more)
TRIO-related disorder
GLikely benign
TRIO
(F2276L)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
TRIO
Microsatellite
(inframe_insertion +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TRIO
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
TRIO
(S2299G)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GLikely benign
TRIO
Duplication
(inframe_insertion +1 more)
not provided
+1 more
GBenign/Likely benign
TRIO
(G2305D)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign/Likely benign
TRIO
Duplication
(inframe insertion +1 more)
TRIO-related disorder
GLikely benign
TRIO
(G2310V)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TRIO
(G2311S)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
+1 more
GUncertain significance
TRIO
(G2317D)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
TRIO
Duplication
(inframe_insertion +1 more)
TRIO-related disorder
GUncertain significance
TRIO
(P2350R)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
+1 more
GUncertain significance
TRIO
(P2372L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
TRIO
(E2384fs)
Duplication
(frameshift variant)
TRIO-related disorder
GLikely pathogenic
TRIO
Single nucleotide variant
(synonymous variant)
TRIO-related disorder
GLikely benign
TRIO
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
TRIO
(A2389V)
Single nucleotide variant
(missense variant)
TRIO-related disorder
+1 more
GBenign/Likely benign
TRIO
Single nucleotide variant
(synonymous variant)
TRIO-related disorder
+1 more
GLikely benign
TRIO
Single nucleotide variant
(synonymous variant)
TRIO-related disorder
+1 more
GLikely benign
TRIO
(A2451D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
TRIO
(P2466L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
TRIO
(G2469S)
Single nucleotide variant
(missense variant)
TRIO-related disorder
+1 more
GLikely benign
TRIO
(F2485L)
Single nucleotide variant
(missense variant)
TRIO-related disorder
+1 more
GLikely benign
TRIO
(S2488T)
Single nucleotide variant
(missense variant)
TRIO-related disorder
GUncertain significance
TRIO
(P2497L)
Single nucleotide variant
(missense variant)
TRIO-related disorder
+2 more
GBenign/Likely benign
TRIO
(A2517T)
Single nucleotide variant
(missense variant)
TRIO-related disorder
+1 more
GBenign/Likely benign
TRIO
Single nucleotide variant
(synonymous variant +1 more)
TRIO-related disorder
GLikely benign
TRIO
(M2556L)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
TRIO
Single nucleotide variant
(synonymous variant +1 more)
TRIO-related disorder
GLikely benign
TRIO
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
TRIO
(G2624E)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
+1 more
GBenign/Likely benign
LOC126807323, TRIO
(L2674P)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
LOC126807323, TRIO
(N2676I)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
LOC126807323, TRIO
(S2692C)
Single nucleotide variant
(missense variant +1 more)
TRIO-related disorder
GUncertain significance
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