C0220668[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 528397	NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr)	FBN2 (K2815T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 350759	NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met)	FBN2 (I2792M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 213255	NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val)	FBN2 (L2747V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 458782	NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp)	FBN2 (Y2744D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1657510	NM_001999.4(FBN2):c.7841-14G>A	FBN2	Single nucleotide variant (intron variant)	Macular degeneration, early-onset +1 more	GLikely benign
Select item 578255	NM_001999.4(FBN2):c.7475T>C (p.Leu2492Pro)	FBN2 (L2492P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 213248	NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe)	FBN2 (I2281F)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +3 more	GBenign/Likely benign
Select item 213349	NM_001999.4(FBN2):c.6680C>T (p.Thr2227Ile)	FBN2 (T2227I)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +2 more	GUncertain significance
Select item 350767	NM_001999.4(FBN2):c.6583C>T (p.Arg2195Cys)	FBN2 (R2195C)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GUncertain significance
Select item 263401	NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe)	FBN2 (S2026F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1302265	NM_001999.4(FBN2):c.5983G>A (p.Gly1995Ser)	FBN2 (G1995S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +2 more	GConflicting classifications of pathogenicity
Select item 213404	NM_001999.4(FBN2):c.5800+5G>A	FBN2	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 389331	NM_001999.4(FBN2):c.5674+18T>G	FBN2	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 487469	NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys)	FBN2 (R1832C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 137339	NM_001999.4(FBN2):c.5353+19C>T	FBN2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 137333	NM_001999.4(FBN2):c.4647C>T (p.Asn1549=)	FBN2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +6 more	GBenign/Likely benign
Select item 213407	NM_001999.4(FBN2):c.4102G>A (p.Val1368Met)	FBN2 (V1368M)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +3 more	GUncertain significance
Select item 137326	NM_001999.4(FBN2):c.3848-10G>T	FBN2	Single nucleotide variant (intron variant)	Connective tissue disorder +4 more	GBenign
Select item 213229	NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser)	FBN2 (T1173S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 458759	NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys)	FBN2 (E1161K)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +2 more	GConflicting classifications of pathogenicity
Select item 566529	NM_001999.4(FBN2):c.3464A>G (p.Asn1155Ser)	FBN2 (N1155S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 387606	NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu)	FBN2 (M1108L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 234773	NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly)	FBN2 (S1102G)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +3 more	GConflicting classifications of pathogenicity
Select item 213302	NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser)	FBN2 (A1079S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +3 more	GLikely benign
Select item 129039	NM_001999.4(FBN2):c.2893G>A (p.Val965Ile)	FBN2 (V965I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +6 more	GBenign
Select item 213292	NM_001999.4(FBN2):c.2779G>A (p.Ala927Thr)	FBN2 (A927T)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +2 more	GUncertain significance
Select item 264426	NM_001999.4(FBN2):c.2557A>C (p.Ile853Leu)	FBN2 (I853L)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +2 more	GConflicting classifications of pathogenicity
Select item 137321	NM_001999.4(FBN2):c.2555-7A>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly +5 more	GBenign/Likely benign
Select item 213286	NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)	FBN2 (G754S)	Single nucleotide variant (missense variant)	Connective tissue disorder +6 more	GBenign/Likely benign
Select item 380412	NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala)	FBN2 (E751A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 1677509	NM_001999.4(FBN2):c.2204A>G (p.Tyr735Cys)	FBN2 (Y735C)	Single nucleotide variant (missense variant)	Macular degeneration, early-onset +2 more	GUncertain significance
Select item 263857	NM_001999.4(FBN2):c.1720A>G (p.Ile574Val)	FBN2 (I574V)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +3 more	GConflicting classifications of pathogenicity
Select item 129035	NM_001999.4(FBN2):c.1466-5C>T	FBN2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +6 more	GBenign
Select item 264520	NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser)	FBN2 (G475S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 1042687	NM_001999.4(FBN2):c.704C>T (p.Thr235Met)	FBN2 (T235M)	Single nucleotide variant (missense variant)	Macular degeneration, early-onset +3 more	GConflicting classifications of pathogenicity
Select item 239085	NM_001999.4(FBN2):c.460A>G (p.Met154Val)	FBN2 (M154V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 569505	NM_001999.4(FBN2):c.73G>A (p.Gly25Ser)	FBN2 (G25S)	Single nucleotide variant (missense variant)	Macular degeneration, early-onset +2 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 37