U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 1287

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXE3, LINC01389
(P53L)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GBenign/Likely benign
FOXE3, LINC01389
Single nucleotide variant
(synonymous variant)
FOXE3-related disorder
+6 more
GBenign/Likely benign
FOXE3, LINC01389
Single nucleotide variant
(synonymous variant)
Congenital primary aphakia
+7 more
GBenign
FOXE3, LINC01389
(G196A)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign/Likely benign
FOXE3, LINC01389
(V201M)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GBenign/Likely benign
FOXE3, LINC01389
(G207R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
FOXE3, LINC01389
(P235S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
FOXE3, LINC01389
(S300G)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
TGFB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GBenign/Likely benign
TGFB2
(C4Y)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
+1 more
GLikely benign
TGFB2
(M33R)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
+5 more
GBenign/Likely benign
TGFB2
(V67M)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GUncertain significance
TGFB2
(R91H)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome
+5 more
GBenign/Likely benign
TGFB2
Microsatellite
(splice donor variant)
Loeys-Dietz syndrome 4
+1 more
GUncertain significance
TGFB2
(P119L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
TGFB2
(R178fs +1 more)
Microsatellite
(frameshift variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic/Likely pathogenic
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign/Likely benign
TGFB2
Deletion
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TGFB2
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFB2
Deletion
(inframe_deletion +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFB2
(V207L +1 more)
Single nucleotide variant
(missense variant +1 more)
Holt-Oram syndrome
+5 more
GBenign/Likely benign
TGFB2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
TGFB2
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFB2
(Y259D +1 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 4
+1 more
GUncertain significance
TGFB2
(T288A +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFB2
(G262S +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFB2
(N302fs +1 more)
Duplication
(frameshift variant)
not specified
+3 more
GPathogenic/Likely pathogenic
TGFB2
(K273* +1 more)
Single nucleotide variant
(nonsense)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
TGFB2
(R299Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GPathogenic/Likely pathogenic
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
TGFB2
Deletion
(intron variant)
not specified
+1 more
GBenign
TGFB2
(L330V +1 more)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome
+1 more
GUncertain significance
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
TGFB2
(K427T +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
COL3A1
(V5M)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
COL3A1
(L35I)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
+4 more
GBenign/Likely benign
COL3A1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
COL3A1
(P89L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+3 more
GUncertain significance
COL3A1
(P107T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
COL3A1
(D110V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
COL3A1-related disorder
+3 more
GLikely benign
COL3A1
(Y158N)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
COL3A1
(L169F)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GConflicting classifications of pathogenicity
COL3A1
(G171S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely pathogenic
COL3A1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
COL3A1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
COL3A1
Single nucleotide variant
(synonymous variant)
Familial aortopathy
+3 more
GLikely benign
COL3A1
(R238*)
Single nucleotide variant
(nonsense)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GPathogenic/Likely pathogenic
COL3A1
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
COL3A1
Deletion
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
COL3A1
(R271Q)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+6 more
GBenign/Likely benign
COL3A1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL3A1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GBenign/Likely benign
COL3A1
(G330D)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
COL3A1
(G342R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GPathogenic/Likely pathogenic
COL3A1
(P386S)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
+3 more
GConflicting classifications of pathogenicity
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
+1 more
GLikely benign
COL3A1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
COL3A1
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
COL3A1
(G429S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+2 more
GConflicting classifications of pathogenicity
COL3A1
(R449C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+1 more
GUncertain significance
COL3A1
Deletion
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
COL3A1
(A475V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+4 more
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
COL3A1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
COL3A1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GBenign/Likely benign
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
+4 more
GBenign
COL3A1
(P602T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+4 more
GBenign/Likely benign
COL3A1
Single nucleotide variant
(intron variant)
Connective tissue disorder
+5 more
GConflicting classifications of pathogenicity
COL3A1
(P607A)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
COL3A1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
COL3A1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
COL3A1
(P668S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+2 more
GBenign/Likely benign
COL3A1
(P668T)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+5 more
GConflicting classifications of pathogenicity
COL3A1
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
COL3A1
(A679T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+6 more
GBenign/Likely benign
COL3A1
(P686A)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GBenign/Likely benign
COL3A1
(A709T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
COL3A1
(G744C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+1 more
GPathogenic/Likely pathogenic
COL3A1
(P763S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+1 more
GConflicting classifications of pathogenicity
COL3A1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
COL3A1, LOC126806446
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
COL3A1
(G836R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
COL3A1
(A908V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+3 more
GConflicting classifications of pathogenicity
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
+2 more
GLikely benign
COL3A1
Deletion
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
COL3A1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
COL3A1
(L1021I)
Single nucleotide variant
(missense variant)
COL3A1-related disorder
+3 more
GConflicting classifications of pathogenicity
COL3A1
Single nucleotide variant
(splice donor variant)
Ehlers-Danlos syndrome, type 4
+1 more
GPathogenic/Likely pathogenic
COL3A1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GConflicting classifications of pathogenicity
COL3A1
(A1045T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+5 more
GConflicting classifications of pathogenicity
COL3A1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
COL3A1
(R1100H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL3A1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL3A1
(P1138L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL3A1
(P1147L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination