"Ambry Genetics"[submitter] AND "ITGB6"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286864	NM_000888.5(ITGB6):c.2269G>A (p.Gly757Arg)	ITGB6 (G650R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524539	NM_000888.5(ITGB6):c.2246G>A (p.Arg749Gln)	ITGB6 (R611Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488739	NM_000888.5(ITGB6):c.2113C>A (p.Pro705Thr)	ITGB6 (P567T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111502	NM_000888.5(ITGB6):c.2084A>C (p.His695Pro)	ITGB6 (H695P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462526	NM_000888.5(ITGB6):c.2080A>T (p.Ile694Phe)	ITGB6 (I587F +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597524	NM_000888.5(ITGB6):c.1970G>T (p.Ser657Ile)	ITGB6 (S562I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3111501	NM_000888.5(ITGB6):c.1961C>T (p.Ala654Val)	ITGB6 (A654V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2231489	NM_000888.5(ITGB6):c.1910C>T (p.Ala637Val)	ITGB6 (A637V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513019	NM_000888.5(ITGB6):c.1892T>C (p.Ile631Thr)	ITGB6 (I493T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3111500	NM_000888.5(ITGB6):c.1859G>C (p.Cys620Ser)	ITGB6 (C547S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608193	NM_000888.5(ITGB6):c.1847G>A (p.Arg616Gln)	ITGB6 (R574Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481196	NM_000888.5(ITGB6):c.1807G>T (p.Val603Phe)	ITGB6 (V508F +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557116	NM_000888.5(ITGB6):c.1687T>C (p.Cys563Arg)	ITGB6 (C425R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206970	NM_000888.5(ITGB6):c.1669G>T (p.Asp557Tyr)	ITGB6 (D462Y +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3111499	NM_000888.5(ITGB6):c.1633G>A (p.Val545Met)	ITGB6 (V407M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111498	NM_000888.5(ITGB6):c.1621A>G (p.Asn541Asp)	ITGB6 (N468D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111497	NM_000888.5(ITGB6):c.1614G>C (p.Gln538His)	ITGB6 (Q496H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218298	NM_000888.5(ITGB6):c.1577T>C (p.Leu526Ser)	ITGB6 (L388S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349172	NM_000888.5(ITGB6):c.1517C>A (p.Pro506Gln)	ITGB6 (P368Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405407	NM_000888.5(ITGB6):c.1465C>T (p.Arg489Cys)	ITGB6 (R489C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495244	NM_000888.5(ITGB6):c.1459G>A (p.Gly487Arg)	ITGB6 (G414R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311313	NM_000888.5(ITGB6):c.1455C>A (p.His485Gln)	ITGB6 (H390Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329594	NM_000888.5(ITGB6):c.1417T>A (p.Ser473Thr)	ITGB6 (S378T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286859	NM_000888.5(ITGB6):c.1409G>T (p.Gly470Val)	ITGB6 (G428V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588174	NM_000888.5(ITGB6):c.1299T>G (p.Ile433Met)	ITGB6 (I295M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509239	NM_000888.5(ITGB6):c.1255G>A (p.Val419Met)	ITGB6 (V419M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111494	NM_000888.5(ITGB6):c.1243G>T (p.Ala415Ser)	ITGB6 (A277S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223271	NM_000888.5(ITGB6):c.1175C>T (p.Ala392Val)	ITGB6 (A319V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111493	NM_000888.5(ITGB6):c.1174G>C (p.Ala392Pro)	ITGB6 (A297P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286863	NM_000888.5(ITGB6):c.1156C>T (p.Leu386Phe)	ITGB6 (L313F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111492	NM_000888.5(ITGB6):c.1148C>G (p.Thr383Ser)	ITGB6 (T310S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111491	NM_000888.5(ITGB6):c.1099G>C (p.Ala367Pro)	ITGB6 (A229P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485931	NM_000888.5(ITGB6):c.1078A>G (p.Ile360Val)	ITGB6 (I265V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271976	NM_000888.5(ITGB6):c.1049T>G (p.Val350Gly)	ITGB6 (V212G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394035	NM_000888.5(ITGB6):c.1030C>T (p.Leu344Phe)	ITGB6 (L344F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517817	NM_000888.5(ITGB6):c.1024G>A (p.Ala342Thr)	ITGB6 (A269T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221166	NM_000888.5(ITGB6):c.998A>G (p.Glu333Gly)	ITGB6 (E291G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111505	NM_000888.5(ITGB6):c.896A>G (p.Asn299Ser)	ITGB6 (N161S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111504	NM_000888.5(ITGB6):c.891C>A (p.Ser297Arg)	ITGB6 (S202R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246858	NM_000888.5(ITGB6):c.882C>A (p.His294Gln)	ITGB6 (H294Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368624	NM_000888.5(ITGB6):c.856G>A (p.Val286Ile)	ITGB6 (V286I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326264	NM_000888.5(ITGB6):c.775C>T (p.Arg259Trp)	ITGB6 (R186W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456903	NM_000888.5(ITGB6):c.767T>C (p.Ile256Thr)	ITGB6 (I161T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247617	NM_000888.5(ITGB6):c.767T>A (p.Ile256Asn)	ITGB6 (I118N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485852	NM_000888.5(ITGB6):c.724G>A (p.Gly242Arg)	ITGB6 (G104R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210604	NM_000888.5(ITGB6):c.609C>G (p.Phe203Leu)	ITGB6 (F108L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286866	NM_000888.5(ITGB6):c.598A>G (p.Ile200Val)	ITGB6 (I105V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286860	NM_000888.5(ITGB6):c.556G>T (p.Val186Leu)	ITGB6 (V144L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318841	NM_000888.5(ITGB6):c.523G>A (p.Gly175Arg)	ITGB6 (G133R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111503	NM_000888.5(ITGB6):c.472C>T (p.Arg158Trp)	ITGB6 (R20W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282078	NM_000888.5(ITGB6):c.418G>A (p.Asp140Asn)	ITGB6 (D140N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286862	NM_000888.5(ITGB6):c.377G>T (p.Arg126Leu)	ITGB6 (R53L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517620	NM_000888.5(ITGB6):c.295T>G (p.Ser99Ala)	ITGB6 (S57A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529990	NM_000888.5(ITGB6):c.193C>G (p.Leu65Val)	ITGB6 (L23V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3286865	NM_000888.5(ITGB6):c.192C>A (p.Asn64Lys)	ITGB6 (N64K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3111496	NM_000888.5(ITGB6):c.157T>C (p.Ser53Pro)	ITGB6 (S11P +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance

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Items: 56