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Items: 1 to 100 of 250

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOTCH2
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
NOTCH2-related condition
+2 more
GConflicting classifications of pathogenicity
NOTCH2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NOTCH2
(Q2452H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(A2448S)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
+3 more
GConflicting classifications of pathogenicity
NOTCH2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
NOTCH2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NOTCH2
(P2430S)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
+1 more
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
+2 more
GConflicting classifications of pathogenicity
NOTCH2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NOTCH2
(L2408H)
Single nucleotide variant
(missense variant)
NOTCH2-related condition
+5 more
GBenign/Likely benign
NOTCH2
(R2400Q)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
+2 more
GConflicting classifications of pathogenicity
NOTCH2
(Y2392H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
+3 more
GBenign/Likely benign
NOTCH2
(P2359A)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
NOTCH2
(M2358V)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a NOTCH2 point mutation
+2 more
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a NOTCH2 point mutation
+3 more
GBenign/Likely benign
NOTCH2
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a NOTCH2 point mutation
+2 more
GConflicting classifications of pathogenicity
NOTCH2
(A2333P)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a NOTCH2 point mutation
+2 more
GLikely benign
NOTCH2
(A2333T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(P2329S)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
+2 more
GUncertain significance
NOTCH2
(T2327A)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
+2 more
GConflicting classifications of pathogenicity
NOTCH2
(A2321V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NOTCH2
(A2319V)
Single nucleotide variant
(missense variant)
NOTCH2-related condition
+2 more
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
+2 more
GBenign
NOTCH2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NOTCH2
(R2298Q)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
+3 more
GConflicting classifications of pathogenicity
NOTCH2
(R2287W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(H2279Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(M2270V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NOTCH2
(R2256H)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a NOTCH2 point mutation
+4 more
GUncertain significance
NOTCH2
(R2256C)
Single nucleotide variant
(missense variant)
NOTCH2-related condition
+2 more
GConflicting classifications of pathogenicity
NOTCH2
(S2235G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(H2229Y)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
+1 more
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NOTCH2
(A2188T)
Single nucleotide variant
(missense variant)
NOTCH2-related condition
+3 more
GUncertain significance
NOTCH2
(M2183V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
NOTCH2
(S2166P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a NOTCH2 point mutation
+2 more
GBenign/Likely benign
NOTCH2
(V2161I)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a NOTCH2 point mutation
+2 more
GUncertain significance
NOTCH2
(Y2160C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
NOTCH2
Single nucleotide variant
(synonymous variant)
NOTCH2-related condition
+2 more
GConflicting classifications of pathogenicity
NOTCH2
(E2155A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(K2138E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(K2121N)
Single nucleotide variant
(missense variant)
NOTCH2-related condition
+3 more
GConflicting classifications of pathogenicity
NOTCH2
(K2121R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
NOTCH2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NOTCH2
(S2115N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(P2113L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
NOTCH2
(S2103T)
Single nucleotide variant
(missense variant)
NOTCH2-related condition
+2 more
GConflicting classifications of pathogenicity
NOTCH2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NOTCH2
(I2084N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NOTCH2
(V2075M)
Single nucleotide variant
(missense variant)
NOTCH2-related condition
+4 more
GBenign/Likely benign
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
+1 more
GConflicting classifications of pathogenicity
NOTCH2
(L2061P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NOTCH2
(R2051P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(R2051Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NOTCH2
(R2047Q)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
+1 more
GConflicting classifications of pathogenicity
NOTCH2
(R2047G)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
+1 more
GUncertain significance
NOTCH2
(M2042V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(D2040N)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a NOTCH2 point mutation
+2 more
GUncertain significance
NOTCH2
(N2035S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NOTCH2
(N2035H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(H2032N)
Single nucleotide variant
(missense variant)
NOTCH2-related condition
+3 more
GBenign/Likely benign
NOTCH2
(R2019Q)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a NOTCH2 point mutation
+2 more
GUncertain significance
NOTCH2
(A2018S)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a NOTCH2 point mutation
+2 more
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
+1 more
GConflicting classifications of pathogenicity
NOTCH2
Single nucleotide variant
(intron variant)
Hajdu-Cheney syndrome
+2 more
GConflicting classifications of pathogenicity
NOTCH2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NOTCH2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NOTCH2
(K2009R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(R2003*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NOTCH2
(N2002D)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
+2 more
GUncertain significance
NOTCH2
(T1993A)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a NOTCH2 point mutation
+2 more
GUncertain significance
NOTCH2
(V1987F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NOTCH2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NOTCH2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
NOTCH2
(R1953H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(R1953C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(L1948fs)
Deletion
(frameshift variant)
not provided
GPathogenic
NOTCH2
(T1945I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(A1939S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NOTCH2
Single nucleotide variant
(intron variant)
Hajdu-Cheney syndrome
+1 more
GConflicting classifications of pathogenicity
NOTCH2
Single nucleotide variant
(intron variant)
Hajdu-Cheney syndrome
+2 more
GConflicting classifications of pathogenicity
NOTCH2
(L1914F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(R1911H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NOTCH2
(R1889fs)
Duplication
(frameshift variant)
Hajdu-Cheney syndrome
+1 more
GPathogenic
NOTCH2
(G1877V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NOTCH2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NOTCH2
(P1803S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(P1788A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(P1783R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(L1777F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(E1772K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
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