"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 514304	NM_000138.5(FBN1):c.1146C>T (p.Thr382=)	FBN1, LOC113939944	Single nucleotide variant (synonymous variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1940155	NM_000138.5(FBN1):c.1144A>G (p.Thr382Ala)	FBN1, LOC113939944 (T382A)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 3072974	NM_000138.5(FBN1):c.1141G>A (p.Ala381Thr)	LOC113939944, FBN1 (A381T)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 807249	NM_000138.5(FBN1):c.1131T>C (p.Cys377=)	FBN1, LOC113939944	Single nucleotide variant (synonymous variant)	Marfan syndrome +2 more	GLikely benign
Select item 919888	NM_000138.5(FBN1):c.1118C>T (p.Ala373Val)	FBN1, LOC113939944 (A373V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GConflicting classifications of pathogenicity
Select item 519753	NM_000138.5(FBN1):c.1117G>A (p.Ala373Thr)	FBN1, LOC113939944 (A373T)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 629642	NM_000138.5(FBN1):c.1116C>T (p.Val372=)	FBN1, LOC113939944	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 3074868	NM_000138.5(FBN1):c.1114G>A (p.Val372Ile)	FBN1, LOC113939944 (V372I)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 919876	NM_000138.5(FBN1):c.1108G>T (p.Val370Phe)	FBN1, LOC113939944 (V370F)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2193954	NM_000138.5(FBN1):c.1100C>T (p.Ser367Phe)	FBN1, LOC113939944 (S367F)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 199964	NM_000138.5(FBN1):c.1091G>C (p.Arg364Pro)	FBN1, LOC113939944 (R364P)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 576755	NM_000138.5(FBN1):c.1087G>A (p.Gly363Ser)	FBN1, LOC113939944 (G363S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3074922	NM_000138.5(FBN1):c.1071G>A (p.Gln357=)	FBN1, LOC113939944	Single nucleotide variant (synonymous variant)	Marfan syndrome	GLikely benign
Select item 3071965	NM_000138.5(FBN1):c.1070A>T (p.Gln357Leu)	FBN1, LOC113939944 (Q357L)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 2945769	NM_000138.5(FBN1):c.1057A>G (p.Ile353Val)	FBN1, LOC113939944 (I353V)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1677349	NM_000138.5(FBN1):c.1052A>G (p.Gln351Arg)	FBN1, LOC113939944 (Q351R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1171659	NM_000138.5(FBN1):c.1031G>A (p.Arg344His)	FBN1, LOC113939944 (R344H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 516065	NM_000138.5(FBN1):c.1029G>T (p.Gly343=)	FBN1, LOC113939944	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 137299	NM_000138.5(FBN1):c.1029G>A (p.Gly343=)	FBN1, LOC113939944	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +8 more	GBenign/Likely benign
Select item 161244	NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)	LOC113939944, FBN1 (G343R)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +9 more	GConflicting classifications of pathogenicity
Select item 548998	NM_000138.5(FBN1):c.1026C>T (p.Asn342=)	FBN1, LOC113939944	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 982352	NM_000138.5(FBN1):c.994C>T (p.Arg332Cys)	FBN1, LOC113939944 (R332C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 2947658	NM_000138.5(FBN1):c.991G>A (p.Val331Ile)	FBN1, LOC113939944 (V331I)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 3075108	NM_000138.5(FBN1):c.989A>G (p.Asp330Gly)	FBN1, LOC113939944 (D330G)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 2157037	NM_000138.5(FBN1):c.989-8G>A	FBN1, LOC113939944	Single nucleotide variant (intron variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity

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Items: 25