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Items: 1 to 100 of 705

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3C2B, PKP1
+1147 more
Copy number gain
See cases
GPathogenic
LOC129388734, LOC129388735
+723 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1427 more
Copy number gain
See cases
GPathogenic
LOC126806029, LOC129932471
+720 more
Copy number loss
Orofacial cleft 2
Gassociation
OR2M4, OR2M5
+1351 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1325 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1167 more
Copy number gain
See cases
GPathogenic
BPNT1, C1orf115
+138 more
Copy number loss
See cases
GPathogenic
BPNT1, C1orf115
+138 more
Copy number loss
See cases
GPathogenic
BPNT1, C1orf115
+135 more
Copy number gain
See cases
GPathogenic
BPNT1, C1orf115
+146 more
Deletion
Usher syndrome
GLikely pathogenic
ESRRG, GPATCH2
+55 more
Copy number loss
See cases
GPathogenic
GPATCH2, LINC00210
+22 more
Copy number loss
See cases
GPathogenic
GPATCH2, LINC00210
+19 more
Copy number gain
See cases
GUncertain significance
LINC01710, LINC02869
+9 more
Copy number loss
See cases
GUncertain significance
TGFB2, TGFB2-AS1
Microsatellite
not provided
GBenign
TGFB2, TGFB2-AS1
Single nucleotide variant
not provided
GBenign
TGFB2, TGFB2-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
TGFB2, TGFB2-AS1
Microsatellite
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
+1 more
GUncertain significance
TGFB2, TGFB2-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2, TGFB2-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2, TGFB2-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2, TGFB2-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
+1 more
GBenign/Likely benign
TGFB2, TGFB2-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 4
GBenign
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GBenign
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Microsatellite
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
+1 more
GUncertain significance
TGFB2
Insertion
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome
GUncertain significance
TGFB2
Microsatellite
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome
GUncertain significance
TGFB2
Microsatellite
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome
GUncertain significance
TGFB2
Microsatellite
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome
GUncertain significance
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Microsatellite
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome
GLikely benign
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
+1 more
GLikely benign
TGFB2
Duplication
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Duplication
(5 prime UTR variant +1 more)
not specified
GLikely benign
TGFB2
Deletion
(5 prime UTR variant +1 more)
not provided
+2 more
GBenign/Likely benign
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Ehlers-Danlos syndrome
+3 more
GBenign/Likely benign
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
TGFB2
(C4fs)
Deletion
(frameshift variant +1 more)
Loeys-Dietz syndrome 4
GPathogenic
TGFB2
(C4Y)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
+1 more
GLikely benign
TGFB2
(V5L)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(L6P)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(S7G)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(S7T)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(A8S)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFB2
(A8T)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFB2
Deletion
(nonsense +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
(I11L)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFB2
(V15fs)
Insertion
(frameshift variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
TGFB2
(H13N)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
+1 more
GConflicting classifications of pathogenicity
TGFB2
(H13R)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
TGFB2
(A18S)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(A18T)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(A18V)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
(S20T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TGFB2
(S20N)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(S22del)
Deletion
(inframe_deletion +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(S25R)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFB2
(L27I)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFB2
(D30fs)
Deletion
(frameshift variant +1 more)
Loeys-Dietz syndrome 4
GPathogenic
TGFB2
(F32L)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(M33R)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFB2
(R34C)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(R34H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
TGFB2-related disorder
GLikely benign
TGFB2
(I37M)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
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