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Items: 1 to 100 of 623

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
SAMD15, SEL1L
+503 more
Copy number loss
See cases
GPathogenic
ABCD4, ACOT1
+299 more
Copy number loss
See cases
GLikely pathogenic
LOC130056651, LOC130056652
+1423 more
Copy number gain
See cases
GPathogenic
ABCD4, ACYP1
+227 more
Copy number loss
See cases
GPathogenic
ACYP1, BATF
+71 more
Copy number loss
See cases
GUncertain significance
BATF, ERG28
+24 more
Copy number gain
See cases
GUncertain significance
ADCK1, AHSA1
+155 more
Copy number loss
See cases
GPathogenic
TGFB3
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
TGFB3
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
TGFB3
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
TGFB3
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
TGFB3
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
TGFB3
Single nucleotide variant
(3 prime UTR variant)
Collapse (finding)
+1 more
GUncertain significance
TGFB3
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
TGFB3
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
LOC130056139, TGFB3
Deletion
Loeys-Dietz syndrome 4
GLikely pathogenic
LOC130056139, TGFB3
Deletion
Rienhoff syndrome
GLikely pathogenic
TGFB3
Single nucleotide variant
(3 prime UTR variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Deletion
(3 prime UTR variant)
not provided
GBenign
TGFB3
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
TGFB3
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular cardiomyopathy
+1 more
GUncertain significance
TGFB3
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
TGFB3
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GBenign/Likely benign
TGFB3
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TGFB3
Single nucleotide variant
(stop lost)
Rienhoff syndrome
GUncertain significance
TGFB3
(S412R)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
(C411G)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFB3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
TGFB3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFB3
(C409Y)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GPathogenic
TGFB3
(S408P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB3
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
TGFB3
(K407N)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
TGFB3
(K407*)
Single nucleotide variant
(nonsense)
Rienhoff syndrome
GPathogenic
TGFB3
(K407E)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
TGFB3
(V406del)
Microsatellite
(inframe_deletion)
Rienhoff syndrome
GUncertain significance
TGFB3
(V405A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TGFB3
(N403S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFB3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFB3
(L401P)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GLikely pathogenic
TGFB3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFB3
(E399*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GLikely pathogenic
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
(V398M)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFB3
(K397N)
Single nucleotide variant
(missense variant)
TGFB3-related disorder
GUncertain significance
TGFB3
(K397R)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
(K397fs)
Duplication
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
TGFB3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFB3
(P396S)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
+1 more
GLikely benign
TGFB3
(T395N)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
+2 more
GUncertain significance
TGFB3
(T395A)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
(T395P)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
+1 more
GLikely benign
TGFB3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
TGFB3
(G393R)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
+1 more
GUncertain significance
TGFB3
(V392A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TGFB3
(V392D)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
(Y390F)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 1
+3 more
GUncertain significance
TGFB3
(I388F)
Single nucleotide variant
(missense variant)
TGFB3-related disorder
GUncertain significance
TGFB3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFB3
(P385L)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
(E384G)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
+1 more
GUncertain significance
TGFB3
(E384Q)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFB3
(E384K)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGFB3
(Q381H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TGFB3
(P380S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
(V379M)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
+3 more
GUncertain significance
TGFB3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
TGFB3
(C377Y)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
(P376L)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
(S375L)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
TGFB3
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
TGFB3
(S373P)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFB3
(P370A)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFB3
(L368fs)
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GPathogenic/Likely pathogenic
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
(V361L)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(splice acceptor variant)
Rienhoff syndrome
GLikely pathogenic
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
TGFB3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TGFB3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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