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Items: 1 to 100 of 7803

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP6V0A1
(D36V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 104
+1 more
GUncertain significance
SATB1
(T472A +1 more)
Single nucleotide variant
(missense variant)
Developmental delay with dysmorphic facies and dental anomalies
+1 more
GUncertain significance
PACS1
Microsatellite
(inframe_insertion)
Schuurs-Hoeijmakers syndrome
GUncertain significance
SOX11
(S338*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 27
GUncertain significance
CBL
(S131T)
Single nucleotide variant
(missense variant)
CBL-related disorder
GUncertain significance
HNRNPH1, LOC128966623
(H153D +6 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
GUncertain significance
BRCA1
(K567V +20 more)
Indel
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(G2063K)
Indel
(missense variant)
Hereditary cancer-predisposing syndrome
GLikely benign
BRCA1
(E1010Q +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(E1056G +21 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(E2028V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
BRCA2
(T675I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(S1001Y +21 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(Q1379E)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GConflicting classifications of pathogenicity
BRCA2
(E292V)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(G1002R +20 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(K1020R +20 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
BRCA2
(D720Y)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+2 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(S1032P +21 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(K314I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(Q713R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(T1225R)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(L291P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(Q2065K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(L1042P +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GConflicting classifications of pathogenicity
BRCA1
(S567G +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(S519N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
BRCA1
(P363S +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(K1590E)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(S258A +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(T663S +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(Q1175R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA2
(M524I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(N801S)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(S1039G +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(E787G +20 more)
Single nucleotide variant
(intron variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(D1163N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(D281H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(T278N +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(D388H +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(G595F +20 more)
Indel
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(K1419T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(M1272L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(Q1124P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(T2125S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(A190D +20 more)
Single nucleotide variant
(intron variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(C693F)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(L1939M)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(Q373R)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(F758L +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(T328S)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(G2274R)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(T412R +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(N876I)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(E2082K)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(I684T +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(S707F +20 more)
Single nucleotide variant
(intron variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(N1147I)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(N217D +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(E377A)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
LOC126862571, BRCA1
(V1106G +21 more)
Single nucleotide variant
(intron variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(T121A +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(S660P +20 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
BRCA2
(N1279K)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(L1462I)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(G1021C +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(D438G)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA1
(E104K +19 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(P579T +20 more)
Single nucleotide variant
(intron variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(H1116L +21 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(K213E +20 more)
Single nucleotide variant
(intron variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(N2146K)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(E2028R)
Indel
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(T582S)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(S846L)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(S1328G)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(V2203D)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(D1807V)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(K2104N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(N574D +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(A766V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(I284L +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+2 more
GConflicting classifications of pathogenicity
OUncertain significance
BRCA2
(N1344S)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(V1283L)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(N1127D +21 more)
Single nucleotide variant
(intron variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(Q1416R)
Single nucleotide variant
(missense variant)
BRCA2-related cancer predisposition
+2 more
GConflicting classifications of pathogenicity
BRCA2
(M1745I)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(D1949A)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(E2220K)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(E2081Q)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(T939I)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(S160N +19 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(S1221C)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(I262M +20 more)
Single nucleotide variant
(intron variant +1 more)
Hereditary breast ovarian cancer syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA2
(K322E)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(C2117Y)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(D974H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(T1499S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(Q886R +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(V1639A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
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