C0024796[trait identifier] AND "CSER _CC_NCGL, University of Washingto - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 161395	NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr)	TGFBR2 (A354T +8 more)	Single nucleotide variant (missense variant)	TGFBR2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 44651	NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)	TGFBR2 (V387M +8 more)	Single nucleotide variant (missense variant)	TGFBR2-related condition +9 more	GConflicting classifications of pathogenicity
Select item 161394	NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)	TGFBR2 (S578T +10 more)	Single nucleotide variant (missense variant)	TGFBR2-related condition +8 more	GConflicting classifications of pathogenicity
Select item 161236	NM_000138.5(FBN1):c.8494A>G (p.Ser2832Gly)	FBN1 (S2832G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 16445	NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)	FBN1 (R2726W)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 161240	NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln)	FBN1 (R2694Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 42434	NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)	FBN1 (G2618R)	Single nucleotide variant (missense variant)	Stiff skin syndrome +9 more	GConflicting classifications of pathogenicity
Select item 161237	NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val)	FBN1 (I2616V)	Single nucleotide variant (missense variant)	Geleophysic dysplasia +7 more	GConflicting classifications of pathogenicity
Select item 161238	NM_000138.5(FBN1):c.7702G>A (p.Val2568Met)	FBN1 (V2568M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 161241	NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)	FBN1 (R2554W)	Single nucleotide variant (missense variant)	Ectopia lentis 1, isolated, autosomal dominant +9 more	GConflicting classifications of pathogenicity
Select item 161239	NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg)	FBN1 (K2460R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 161234	NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)	FBN1 (R2414Q)	Single nucleotide variant (missense variant)	Ectopia lentis 1, isolated, autosomal dominant +10 more	GConflicting classifications of pathogenicity
Select item 36104	NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)	FBN1 (V2234M)	Single nucleotide variant (missense variant)	FBN1-related condition +8 more	GConflicting classifications of pathogenicity
Select item 373256	NM_000138.5(FBN1):c.4444G>A (p.Gly1482Ser)	FBN1 (G1482S)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GUncertain significance
Select item 42355	NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)	FBN1, LOC126862124 (P1424A)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +12 more	GConflicting classifications of pathogenicity
Select item 161235	NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe)	FBN1 (Y1266F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 16451	NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)	FBN1 (R1170H)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenign FDA Recognized database
Select item 36065	NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala)	FBN1 (P1148A)	Single nucleotide variant (missense variant)	Connective tissue disorder +9 more	GBenign
Select item 42325	NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)	FBN1 (T1020A)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely benign FDA Recognized database
Select item 36060	NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)	FBN1 (A986T)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenign FDA Recognized database
Select item 42321	NM_000138.5(FBN1):c.2927G>A (p.Arg976His)	FBN1 (R976H)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 161242	NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr)	FBN1 (A686T)	Single nucleotide variant (missense variant)	Ectopia lentis 1, isolated, autosomal dominant +9 more	GConflicting classifications of pathogenicity
Select item 161243	NM_000138.5(FBN1):c.1345G>A (p.Val449Ile)	FBN1 (V449I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 161244	NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)	FBN1, LOC113939944 (G343R)	Single nucleotide variant (missense variant)	Connective tissue disorder +9 more	GConflicting classifications of pathogenicity
Select item 161245	NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)	FBN1, LOC130057019 (Y20C)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance FDA Recognized database

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Items: 25