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Items: 1 to 100 of 207

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132089226, LOC132089227
+1167 more
Copy number gain
See cases
GPathogenic
LOC129995440, LOC129995441
+864 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+676 more
Copy number gain
See cases
GPathogenic
FBLL1, LOC123575611
+30 more
Copy number gain
See cases
GUncertain significance
C5orf58, DOCK2
+84 more
Copy number loss
See cases
GUncertain significance
SLIT3
Deletion
(3 prime UTR variant)
SLIT3-related disorder
GUncertain significance
SLIT3
(A1528T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(L1527F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(G1518S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
(R1494Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(R1491H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(Q1485H +1 more)
Single nucleotide variant
(missense variant)
SLIT3-related disorder
GUncertain significance
SLIT3
(R1486H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SLIT3
(R1467H +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SLIT3
(R1460C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(V1454G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(P1455L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(E1441K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLIT3
(G1437S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(P1430L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(K1416R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(G1406E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(Y1389H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLIT3
(T1392N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(R1369Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(Q1366R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
(K1348N +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLIT3
(Q1331P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
(Q1316L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
(E1315V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
Single nucleotide variant
(synonymous variant)
SLIT3-related disorder
GBenign
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLIT3
(G1287S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
(V1253I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(Q1248K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(N1208S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(D1189A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(V1193M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
(V1169L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SLIT3
(V1167I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(P1152L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(P1159S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(A1157V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(P1129Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLIT3
(H1118Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(T1099I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SLIT3
(V1090M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLIT3
(C1078Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(D1077G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
(E1041D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
(D1039N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
SLIT3-related disorder
GLikely benign
SLIT3
(V1019M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(Y1018F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
SLIT3
(D1009N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(D1006N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
SLIT3-related disorder
GLikely benign
SLIT3
(R999Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
(V961M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3, SLIT3-AS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3, SLIT3-AS2
(V916G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3, SLIT3-AS2
Single nucleotide variant
(intron variant)
not provided
GBenign
SLIT3, SLIT3-AS2
(S885N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3, SLIT3-AS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3, SLIT3-AS2
(A874V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3, SLIT3-AS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126807585, SLIT3
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126807585, SLIT3
+1 more
(D845N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
LOC126807585, SLIT3
+1 more
(N844S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
SLIT3, SLIT3-AS2
Single nucleotide variant
(non-coding transcript variant +1 more)
SLIT3-related anomalies of the kidney and urinary tract
GUncertain significance
SLIT3
(V816A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(M798I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(M798T)
Single nucleotide variant
(missense variant)
SLIT3-related anomalies of the kidney and urinary tract
+1 more
GUncertain significance
SLIT3
(N792S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(T778K)
Single nucleotide variant
(missense variant)
SLIT3-related disorder
GUncertain significance
SLIT3
(T778M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(A773T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(A745T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(V736M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
(T710I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(R682Q)
Single nucleotide variant
(missense variant)
SLIT3-related anomalies of the kidney and urinary tract
GUncertain significance
SLIT3
(R681K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(K680M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLIT3
(P664T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLIT3
(T651M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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