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Items: 1 to 100 of 159

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM19, ADAMTS2
+1166 more
Copy number gain
See cases
GPathogenic
LOC129995188, LOC129995189
+863 more
Copy number gain
See cases
GPathogenic
LOC129995377, LOC129995378
+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 condition
GUncertain significance
SLIT3
(A1528T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(L1527F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(G1518S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
SLIT3-related condition
+1 more
GLikely benign
SLIT3
(R1494Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(R1491H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(Q1485H +1 more)
Single nucleotide variant
(missense variant)
SLIT3-related condition
GUncertain significance
SLIT3
(R1467H +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SLIT3
(V1454G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(P1455L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(E1441K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLIT3
(G1437S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(P1430L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(K1416R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(Y1389H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLIT3
(T1392N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
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)
SLIT3-related condition
+1 more
GLikely benign
SLIT3
(K1348N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLIT3
(Q1331P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
(E1315V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
Single nucleotide variant
(synonymous variant)
SLIT3-related condition
GBenign
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLIT3
(G1287S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
(Q1248K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(N1208S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(D1189A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(V1193M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
(V1169L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
SLIT3
(V1167I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(P1159S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(P1129Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLIT3
(T1099I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
SLIT3
(V1090M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLIT3
(C1078Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
(E1041D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
Single nucleotide variant
(synonymous variant)
SLIT3-related condition
GLikely benign
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
SLIT3
(D1009N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(D1006N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
SLIT3-related condition
GLikely benign
SLIT3
(R999Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
(V961M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3, SLIT3-AS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3-AS2, SLIT3
Single nucleotide variant
(intron variant)
not provided
GBenign
SLIT3, SLIT3-AS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3-AS2, SLIT3
(A874V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
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)
Inborn genetic diseases
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
(M798T)
Single nucleotide variant
(missense variant)
SLIT3-related anomalies of the kidney and urinary tract
GUncertain significance
SLIT3
(T778K)
Single nucleotide variant
(missense variant)
SLIT3-related condition
GUncertain significance
SLIT3
(T778M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(A745T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
SLIT3-related condition
+1 more
GLikely benign
SLIT3
(T710I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
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)
Inborn genetic diseases
GUncertain significance
SLIT3
(K680M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(P664T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLIT3
(T651M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(S629N)
Single nucleotide variant
(missense variant)
not provided
GBenign
SLIT3
(G627S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(G618S)
Single nucleotide variant
(missense variant)
not provided
GBenign
SLIT3
(L607I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(R602C)
Single nucleotide variant
(missense variant)
SLIT3-related condition
GLikely benign
SLIT3
(V600M)
Single nucleotide variant
(missense variant)
not provided
GBenign
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
(V583M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(D578N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(P557A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(T535N)
Single nucleotide variant
(missense variant)
SLIT3-related anomalies of the kidney and urinary tract
GUncertain significance
SLIT3
(S528G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(R510C)
Single nucleotide variant
(missense variant)
Familial congenital diaphragmatic hernia
GLikely pathogenic
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
(E498K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(R494T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
SLIT3
(R492H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLIT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLIT3
(R474H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLIT3
(E458K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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