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Items: 1 to 100 of 1056

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
ABCA1, ABHD17B
+1072 more
Copy number gain
See cases
GPathogenic
ABCA1, ABHD17B
+1188 more
Copy number gain
See cases
GPathogenic
LOC130002218, LOC130002219
+994 more
Copy number gain
See cases
GPathogenic
LOC130002205, LOC130002206
+417 more
Copy number loss
See cases
GPathogenic
ABCA1, ABITRAM
+253 more
Copy number loss
See cases
GPathogenic
LOC130002223, TGFBR1
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GBenign
LOC130002223, TGFBR1
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
LOC130002223, TGFBR1
Single nucleotide variant
(5 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
LOC130002223, TGFBR1
Deletion
(5 prime UTR variant)
not specified
GBenign
LOC130002223, TGFBR1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
LOC130002223, TGFBR1
Single nucleotide variant
(5 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
LOC130002223, TGFBR1
Microsatellite
(5 prime UTR variant)
not provided
GBenign
LOC130002223, TGFBR1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
LOC130002223, TGFBR1
Single nucleotide variant
(5 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
LOC130002223, TGFBR1
Deletion
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
ALG2, LOC121331339
+10 more
Deletion
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
LOC130002223, TGFBR1
(M1fs)
Deletion
(frameshift variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
LOC130002223, TGFBR1
Single nucleotide variant
(5 prime UTR variant)
Loeys-Dietz syndrome 1
+4 more
GUncertain significance
LOC130002223, TGFBR1
Single nucleotide variant
(5 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
LOC130002223, TGFBR1
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
LOC130002223, TGFBR1
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC130002223, TGFBR1
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
LOC130002223, TGFBR1
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
+2 more
GBenign/Likely benign
LOC130002223, TGFBR1
(P10fs)
Duplication
(frameshift variant +4 more)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
LOC130002223, TGFBR1
(M1T)
Single nucleotide variant
(missense variant +4 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
LOC130002223, TGFBR1
(A3T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
LOC130002223, TGFBR1
(A3V)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely benign
LOC130002223, TGFBR1
(A4T)
Single nucleotide variant
(missense variant +3 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
LOC130002223, TGFBR1
(A4V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC130002223, TGFBR1
Single nucleotide variant
(5 prime UTR variant +3 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
LOC130002223, TGFBR1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
LOC130002223, TGFBR1
(V5I)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
LOC130002223, TGFBR1
(V5A)
Single nucleotide variant
(missense variant +3 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
LOC130002223, TGFBR1
(V5G)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
LOC130002223, TGFBR1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GBenign
LOC130002223, TGFBR1
Single nucleotide variant
(synonymous variant +3 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
LOC130002223, TGFBR1
(A7G)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GBenign
LOC130002223, TGFBR1
(A7V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
LOC130002223, TGFBR1
(P8L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130002223, TGFBR1
(R9fs)
Deletion
(frameshift variant)
not specified
GUncertain significance
LOC130002223, TGFBR1
Single nucleotide variant
(synonymous variant +3 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
LOC130002223, TGFBR1
(P10S)
Single nucleotide variant
(missense variant +3 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
LOC130002223, TGFBR1
(R11Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LOC130002223, TGFBR1
(R11P)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
LOC130002223, TGFBR1
(L12P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFBR1
Microsatellite
(inframe_insertion +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
Single nucleotide variant
(synonymous variant +3 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
(L14P)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
+3 more
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
(L15F)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant +3 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
(V16M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TGFBR1
Duplication
(inframe_insertion +3 more)
not provided
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TGFBR1
(L17P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFBR1
(L17Q)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
GUncertain significance
TGFBR1
Microsatellite
(inframe_insertion)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
Microsatellite
(inframe_insertion)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
TGFBR1
Microsatellite
(inframe_insertion)
not provided
+1 more
GConflicting classifications of pathogenicity
TGFBR1
Microsatellite
(inframe_insertion)
not provided
+1 more
GConflicting classifications of pathogenicity
TGFBR1
Microsatellite
(inframe_insertion)
Multiple self-healing squamous epithelioma
+4 more
GConflicting classifications of pathogenicity
TGFBR1
Deletion
(inframe_indel)
not specified
GBenign
TGFBR1
Single nucleotide variant
(synonymous variant +3 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
Microsatellite
(inframe_deletion)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
TGFBR1
Microsatellite
(inframe_deletion)
not provided
+2 more
GConflicting classifications of pathogenicity
TGFBR1
Microsatellite
(inframe_deletion)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
TGFBR1
Microsatellite
(inframe_deletion)
not provided
+2 more
GBenign/Likely benign
TGFBR1
(A26del)
Microsatellite
(inframe_deletion)
not specified
+3 more
GBenign/Likely benign
TGFBR1
Microsatellite
(inframe_deletion)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GBenign/Likely benign
TGFBR1
(A18S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
GUncertain significance
TGFBR1
(A18T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TGFBR1
(A19V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
(A20V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
TGFBR1
Duplication
(intron variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
(A21V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TGFBR1
(A22V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant +3 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
(A24fs)
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
TGFBR1
(A24V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TGFBR1
Deletion
(inframe_deletion)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
Single nucleotide variant
(intron variant +3 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
(A26T)
Single nucleotide variant
(missense variant +3 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
(A26V)
Single nucleotide variant
(missense variant +3 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
Deletion
(inframe_deletion)
not specified
+1 more
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant +3 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
(P29S)
Single nucleotide variant
(missense variant +3 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
(G30R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
TGFBR1
(G30V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
(A31S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
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