"Ambry Genetics"[submitter] AND "FBLN1"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2286530	NM_006486.3(FBLN1):c.86C>T (p.Ala29Val)	FBLN1 (A29V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2566122	NM_006486.3(FBLN1):c.113C>T (p.Ala38Val)	FBLN1 (A38V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308793	NM_006486.3(FBLN1):c.286G>T (p.Gly96Cys)	FBLN1 (G96C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322939	NM_006486.3(FBLN1):c.299G>C (p.Ser100Thr)	FBLN1 (S100T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491724	NM_006486.3(FBLN1):c.466G>C (p.Gly156Arg)	FBLN1 (G156R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2602523	NM_006486.3(FBLN1):c.482C>T (p.Thr161Met)	FBLN1 (T161M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322587	NM_006486.3(FBLN1):c.604T>A (p.Phe202Ile)	FBLN1 (F202I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 286989	NM_006486.3(FBLN1):c.1012G>A (p.Val338Met)	FBLN1 (V338M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2345928	NM_006486.3(FBLN1):c.1058G>T (p.Arg353Leu)	FBLN1 (R353L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 593780	NM_006486.3(FBLN1):c.1082C>T (p.Ala361Val)	FBLN1 (A361V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2244339	NM_006486.3(FBLN1):c.1103G>T (p.Gly368Val)	FBLN1 (G368V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332330	NM_006486.3(FBLN1):c.1147G>A (p.Glu383Lys)	FBLN1 (E383K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337126	NM_006486.3(FBLN1):c.1235G>T (p.Gly412Val)	FBLN1 (G412V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305613	NM_006486.3(FBLN1):c.1240A>C (p.Lys414Gln)	FBLN1 (K414Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241188	NM_006486.3(FBLN1):c.1375G>A (p.Gly459Ser)	FBLN1 (G459S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517227	NM_006486.3(FBLN1):c.1456G>A (p.Ala486Thr)	FBLN1 (A486T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1449967	NM_006486.3(FBLN1):c.1490G>A (p.Arg497His)	FBLN1 (R497H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2528810	NM_006486.3(FBLN1):c.1498A>G (p.Asn500Asp)	FBLN1 (N500D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467799	NM_006486.3(FBLN1):c.1703A>G (p.Gln568Arg)	FBLN1 (Q568R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2369947	NM_006486.3(FBLN1):c.1721C>T (p.Thr574Met)	FBLN1 (T574M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365978	NM_006486.3(FBLN1):c.1751A>G (p.Asn584Ser)	FBLN1 (N584S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616946	NM_006486.3(FBLN1):c.1770C>A (p.Phe590Leu)	FBLN1 (F590L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2316866	NM_006486.3(FBLN1):c.1819C>T (p.Arg607Cys)	FBLN1 (R607C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214867	NM_006486.3(FBLN1):c.1832G>A (p.Arg611His)	FBLN1 (R611H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245118	NM_006486.3(FBLN1):c.1856G>A (p.Arg619Gln)	FBLN1 (R619Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350191	NM_006486.3(FBLN1):c.1891A>G (p.Asn631Asp)	FBLN1 (N631D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2595050	NM_006486.3(FBLN1):c.1957G>A (p.Asp653Asn)	FBLN1 (D653N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2283815	NM_006486.3(FBLN1):c.1978G>A (p.Val660Met)	FBLN1 (V660M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510883	NM_006486.3(FBLN1):c.1990C>G (p.Arg664Gly)	FBLN1 (R664G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209738	NM_006486.3(FBLN1):c.2080G>A (p.Val694Ile)	FBLN1 (V694I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468944	NM_006486.3(FBLN1):c.2092G>A (p.Val698Ile)	FBLN1 (V698I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559883	NM_006486.3(FBLN1):c.2096C>T (p.Ser699Phe)	FBLN1 (S699F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 32