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Items: 1 to 100 of 1512

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129388571, LOC129388572
+563 more
Copy number gain
See cases
GPathogenic
ADAM30, ATP1A1
+140 more
Copy number gain
See cases
GPathogenic
ADAM30, HAO2
+42 more
Copy number gain
See cases
GLikely benign
ADAM30, HAO2
+38 more
Copy number loss
See cases
GUncertain significance
ADAM30, LOC111776218
+5 more
Copy number gain
See cases
GUncertain significance
ADAM30, LOC111776218
+4 more
Copy number gain
See cases
GUncertain significance
ADAM30, LOC111776218
+3 more
Copy number gain
See cases
GUncertain significance
NOTCH2
Single nucleotide variant
(3 prime UTR variant)
NOTCH2-related condition
GLikely benign
NOTCH2
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
Single nucleotide variant
(synonymous variant)
NOTCH2-related condition
+2 more
GConflicting classifications of pathogenicity
NOTCH2
(A2471V)
Single nucleotide variant
(missense variant)
NOTCH2-related condition
GUncertain significance
NOTCH2
(V2469I)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(Q2468K)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
+1 more
GUncertain significance
NOTCH2
(N2466del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
NOTCH2
(H2464D)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(H2464Y)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(M2459I)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a NOTCH2 point mutation
+1 more
GUncertain significance
NOTCH2
(M2459T)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NOTCH2
(P2455L)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(R2453Q)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(Q2452H)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(Q2452H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(A2448S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NOTCH2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
NOTCH2
Single nucleotide variant
(synonymous variant)
NOTCH2-related condition
+1 more
GLikely benign
NOTCH2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NOTCH2
(G2446E)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(G2446R)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a NOTCH2 point mutation
+1 more
GLikely benign
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(T2440A)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(S2434Y)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(P2430S)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
+1 more
GUncertain significance
NOTCH2
(S2427T)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(D2423E)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(P2422L)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
+2 more
GConflicting classifications of pathogenicity
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NOTCH2
(L2408H)
Single nucleotide variant
(missense variant)
See cases
+5 more
GBenign/Likely benign
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(G2406V)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(S2403R)
Single nucleotide variant
(missense variant)
not specified
Gnot provided
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(P2402R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(R2400Q)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
+2 more
GConflicting classifications of pathogenicity
NOTCH2
(R2400*)
Single nucleotide variant
(nonsense)
Hajdu-Cheney syndrome
+1 more
GConflicting classifications of pathogenicity
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(E2399K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(A2397G)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a NOTCH2 point mutation
+1 more
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(Y2392H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH2
(Q2389*)
Single nucleotide variant
(nonsense)
Hajdu-Cheney syndrome
GPathogenic
NOTCH2
(P2387T)
Single nucleotide variant
(missense variant)
NOTCH2-related condition
+1 more
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
NOTCH2-related condition
+1 more
GLikely benign
NOTCH2
Single nucleotide variant
(synonymous variant)
NOTCH2-related condition
+2 more
GLikely benign
NOTCH2
(S2379F)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(P2377L)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(P2377T)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(F2376S)
Single nucleotide variant
(missense variant)
NOTCH2-related condition
GUncertain significance
NOTCH2
(F2376L)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(H2374D)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
+1 more
GUncertain significance
NOTCH2
(Y2373*)
Single nucleotide variant
(nonsense)
Hajdu-Cheney syndrome
GPathogenic
NOTCH2
(A2372T)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(P2371L)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(L2370V)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(Q2367*)
Single nucleotide variant
(nonsense)
Hajdu-Cheney syndrome
GPathogenic
NOTCH2
(A2366V)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(Q2364*)
Single nucleotide variant
(nonsense)
NOTCH2-related condition
GLikely pathogenic
NOTCH2
(Q2364fs)
Deletion
(frameshift variant)
Hajdu-Cheney syndrome
GPathogenic
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
+3 more
GBenign/Likely benign
NOTCH2
(Q2360*)
Single nucleotide variant
(nonsense)
Hajdu-Cheney syndrome
GPathogenic
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(P2359A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
NOTCH2
(M2358I)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(M2358V)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a NOTCH2 point mutation
+2 more
GUncertain significance
NOTCH2
(M2357T)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(M2357V)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(F2353L)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(A2352V)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(P2349L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a NOTCH2 point mutation
+3 more
GBenign/Likely benign
NOTCH2
(R2347H)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
+1 more
GUncertain significance
NOTCH2
(R2347C)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
NOTCH2-related condition
+1 more
GLikely benign
NOTCH2
(A2346T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOTCH2
(E2344K)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(E2344*)
Single nucleotide variant
(nonsense)
Hajdu-Cheney syndrome
GPathogenic
NOTCH2
(Q2341*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NOTCH2
(M2339T)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a NOTCH2 point mutation
+1 more
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
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