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Items: 1 to 100 of 3627

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002527, LOC130002528
+1272 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+1268 more
Copy number gain
See cases
GPathogenic
LOC130003109, LOC130003110
+1210 more
Copy number gain
See cases
GPathogenic
LOC130002885, LOC130002886
+789 more
Copy number gain
See cases
GPathogenic
PAEP, PIERCE1
+536 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+656 more
Copy number gain
See cases
GPathogenic
LOC110121282, LOC111365185
+530 more
Copy number gain
See cases
GPathogenic
BRD3, BRD3OS
+510 more
Copy number gain
See cases
GPathogenic
ABCA2, ADAMTSL2
+439 more
Copy number gain
See cases
GPathogenic
LOC130002964, LOC130002965
+417 more
Copy number gain
See cases
GPathogenic
ABCA2, AGPAT2
+405 more
Copy number gain
See cases
GPathogenic
LOC130003068, LOC130003069
+392 more
Copy number gain
See cases
GPathogenic
ABCA2, AGPAT2
+371 more
Copy number loss
See cases
GPathogenic
LCN15, LCN6
+265 more
Copy number loss
See cases
GPathogenic
ABCA2, AGPAT2
+311 more
Copy number loss
See cases
GPathogenic
LOC130003113, LOC130003114
+324 more
Copy number gain
See cases
GLikely pathogenic
C9orf163, CARD9
+46 more
Copy number loss
See cases
GPathogenic
LOC130003070, LOC130003071
+283 more
Copy number loss
See cases
GPathogenic
ABCA2, AGPAT2
+284 more
Copy number loss
See cases
GPathogenic
ABCA2, AGPAT2
+283 more
Copy number loss
See cases
GPathogenic
C9orf163, ENTR1
+31 more
Copy number loss
See cases
GPathogenic
C9orf163, LOC126860794
+8 more
Copy number gain
See cases
GUncertain significance
NOTCH1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
NOTCH1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
NOTCH1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
LOC124375244, LOC126860794
+4 more
Duplication
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
NOTCH1
Single nucleotide variant
(3 prime UTR variant)
NOTCH1-related disorder
GLikely benign
NOTCH1
Single nucleotide variant
(3 prime UTR variant)
not specified
+3 more
GBenign
NOTCH1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
NOTCH1
(A2553V)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(A2553T)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+1 more
GBenign/Likely benign
NOTCH1
(P2551L)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GBenign
NOTCH1
(I2550V)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+5 more
GLikely benign
NOTCH1
(R2549H)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GBenign
NOTCH1
(R2549C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(A2548T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+1 more
GLikely benign
NOTCH1
(Q2544H)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GBenign
NOTCH1
(Q2544R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
NOTCH1
(M2543V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
NOTCH1
(T2541I)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+1 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+1 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
NOTCH1
(V2536I)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(G2535V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+1 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
NOTCH1
(V2529I)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GBenign/Likely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+2 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Aortic valve disease 1
+3 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Aortic valve disease 1
+3 more
GLikely benign
NOTCH1
(S2523L)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
NOTCH1
(W2520fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(D2518E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH1
(P2517S)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(E2515D)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+3 more
GUncertain significance
NOTCH1
(P2514fs)
Deletion
(frameshift variant)
not provided
+2 more
GUncertain significance
NOTCH1
(P2514L)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Aortic valve disease 1
+3 more
GBenign/Likely benign
NOTCH1
(T2511N)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(L2510P)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
NOTCH1
(V2504M)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(Q2503*)
Single nucleotide variant
(nonsense)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(H2500D)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(S2499R)
Single nucleotide variant
(missense variant)
NOTCH1-related disorder
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
NOTCH1
(P2498A)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
NOTCH1
(T2497N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
NOTCH1
(D2495E)
Single nucleotide variant
(missense variant)
NOTCH1-related disorder
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+1 more
GConflicting classifications of pathogenicity
NOTCH1
(S2492L)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
NOTCH1
(S2491Y)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(H2488R)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+1 more
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+1 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
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