"Ambry Genetics"[submitter] AND "FSIP2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2378983	NM_173651.2(FSIP2):c.34C>T (p.Pro12Ser)	FSIP2, FSIP2-AS2 (P12S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224924	NM_173651.2(FSIP2):c.65C>A (p.Ala22Glu)	FSIP2, FSIP2-AS2 (A22E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373393	NM_173651.2(FSIP2):c.116G>T (p.Gly39Val)	FSIP2, FSIP2-AS2 (G39V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316150	NM_173651.2(FSIP2):c.148G>A (p.Gly50Ser)	FSIP2, FSIP2-AS2 (G50S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492902	NM_173651.4(FSIP2):c.-63A>C	FSIP2, FSIP2-AS2	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2298167	NM_173651.4(FSIP2):c.-60G>A	FSIP2-AS2, FSIP2	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2489633	NM_173651.4(FSIP2):c.-44A>G	FSIP2, FSIP2-AS2	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2355411	NM_173651.4(FSIP2):c.-38G>A	FSIP2, FSIP2-AS2	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2493457	NM_173651.4(FSIP2):c.-32G>T	FSIP2, FSIP2-AS2	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2513240	NM_173651.4(FSIP2):c.17G>A (p.Gly6Asp)	FSIP2, FSIP2-AS2 (G6D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483276	NM_173651.4(FSIP2):c.91T>C (p.Cys31Arg)	FSIP2, FSIP2-AS2 +1 more (C31R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409002	NM_173651.4(FSIP2):c.131G>A (p.Gly44Glu)	FSIP2, FSIP2-AS2 (G44E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211885	NM_173651.4(FSIP2):c.577A>C (p.Thr193Pro)	FSIP2 (T193P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208972	NM_173651.4(FSIP2):c.710A>G (p.Gln237Arg)	FSIP2 (Q237R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325449	NM_173651.4(FSIP2):c.719A>C (p.His240Pro)	FSIP2 (H240P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363740	NM_173651.4(FSIP2):c.742C>T (p.Arg248Cys)	FSIP2 (R248C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346319	NM_173651.4(FSIP2):c.803A>T (p.Glu268Val)	FSIP2 (E268V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254820	NM_173651.4(FSIP2):c.946A>G (p.Ile316Val)	FSIP2 (I316V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239581	NM_173651.4(FSIP2):c.1150G>T (p.Val384Phe)	FSIP2 (V384F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275639	NM_173651.4(FSIP2):c.1247T>C (p.Ile416Thr)	FSIP2 (I416T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2563315	NM_173651.4(FSIP2):c.1405G>A (p.Glu469Lys)	FSIP2 (E469K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253013	NM_173651.4(FSIP2):c.1419G>C (p.Gln473His)	FSIP2 (Q473H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527793	NM_173651.4(FSIP2):c.1625C>T (p.Thr542Ile)	FSIP2, FSIP2-AS1 (T542I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510542	NM_173651.4(FSIP2):c.1633G>A (p.Val545Ile)	FSIP2, FSIP2-AS1 (V545I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528896	NM_173651.4(FSIP2):c.1642G>C (p.Asp548His)	FSIP2, FSIP2-AS1 (D548H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488952	NM_173651.4(FSIP2):c.1724C>T (p.Thr575Ile)	FSIP2-AS1, FSIP2 (T575I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556160	NM_173651.4(FSIP2):c.1751G>T (p.Cys584Phe)	FSIP2, FSIP2-AS1 (C584F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460158	NM_173651.4(FSIP2):c.1769C>T (p.Thr590Met)	FSIP2, FSIP2-AS1 (T590M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2343631	NM_173651.4(FSIP2):c.1775T>C (p.Val592Ala)	FSIP2-AS1, FSIP2 (V592A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614722	NM_173651.4(FSIP2):c.1786A>G (p.Thr596Ala)	FSIP2, FSIP2-AS1 (T596A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217606	NM_173651.4(FSIP2):c.1918C>T (p.Leu640Phe)	FSIP2, FSIP2-AS1 (L640F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460819	NM_173651.4(FSIP2):c.2043A>C (p.Lys681Asn)	FSIP2, FSIP2-AS1 (K681N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493571	NM_173651.4(FSIP2):c.2045C>G (p.Ala682Gly)	FSIP2, FSIP2-AS1 (A682G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391569	NM_173651.4(FSIP2):c.2052T>A (p.Asp684Glu)	FSIP2, FSIP2-AS1 (D684E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590621	NM_173651.4(FSIP2):c.2219G>A (p.Arg740His)	FSIP2-AS1, FSIP2 (R740H)	Single nucleotide variant (missense variant)	FSIP2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2278353	NM_173651.4(FSIP2):c.2276T>C (p.Val759Ala)	FSIP2-AS1, FSIP2 (V759A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265176	NM_173651.4(FSIP2):c.2297T>C (p.Leu766Ser)	FSIP2, FSIP2-AS1 (L766S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216288	NM_173651.4(FSIP2):c.2308G>C (p.Val770Leu)	FSIP2-AS1, FSIP2 (V770L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354223	NM_173651.4(FSIP2):c.2422T>G (p.Ser808Ala)	FSIP2, FSIP2-AS1 (S808A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476005	NM_173651.4(FSIP2):c.2437T>G (p.Leu813Val)	FSIP2, FSIP2-AS1 (L813V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560079	NM_173651.4(FSIP2):c.2557T>G (p.Cys853Gly)	FSIP2, FSIP2-AS1 (C853G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598538	NM_173651.4(FSIP2):c.2567A>T (p.His856Leu)	FSIP2, FSIP2-AS1 (H856L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560865	NM_173651.4(FSIP2):c.2573C>T (p.Thr858Ile)	FSIP2, FSIP2-AS1 (T858I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296040	NM_173651.4(FSIP2):c.2620A>C (p.Ser874Arg)	FSIP2, FSIP2-AS1 (S874R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477117	NM_173651.4(FSIP2):c.2643T>A (p.Ser881Arg)	FSIP2, FSIP2-AS1 (S881R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331978	NM_173651.4(FSIP2):c.2653A>G (p.Asn885Asp)	FSIP2, FSIP2-AS1 (N885D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329815	NM_173651.4(FSIP2):c.2764A>T (p.Asn922Tyr)	FSIP2-AS1, FSIP2 (N922Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320626	NM_173651.4(FSIP2):c.2769G>C (p.Glu923Asp)	FSIP2, FSIP2-AS1 (E923D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545948	NM_173651.4(FSIP2):c.2783C>G (p.Ser928Cys)	FSIP2, FSIP2-AS1 (S928C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280668	NM_173651.4(FSIP2):c.2886A>G (p.Ile962Met)	FSIP2, FSIP2-AS1 (I962M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601832	NM_173651.4(FSIP2):c.3009T>A (p.Asp1003Glu)	FSIP2, FSIP2-AS1 (D1003E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393585	NM_173651.4(FSIP2):c.3018G>C (p.Glu1006Asp)	FSIP2, FSIP2-AS1 (E1006D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528541	NM_173651.4(FSIP2):c.3055A>G (p.Thr1019Ala)	FSIP2, FSIP2-AS1 (T1019A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318169	NM_173651.4(FSIP2):c.3157A>G (p.Thr1053Ala)	FSIP2-AS1, FSIP2 (T1053A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473496	NM_173651.4(FSIP2):c.3299A>G (p.His1100Arg)	FSIP2-AS1, FSIP2 (H1100R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463840	NM_173651.4(FSIP2):c.3365C>G (p.Ser1122Cys)	FSIP2, FSIP2-AS1 (S1122C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281509	NM_173651.4(FSIP2):c.3623A>C (p.Glu1208Ala)	FSIP2, FSIP2-AS1 (E1208A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320205	NM_173651.4(FSIP2):c.3788T>A (p.Ile1263Asn)	FSIP2-AS1, FSIP2 (I1263N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354336	NM_173651.4(FSIP2):c.3816G>T (p.Lys1272Asn)	FSIP2, FSIP2-AS1 (K1272N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553530	NM_173651.4(FSIP2):c.3845G>T (p.Gly1282Val)	FSIP2, FSIP2-AS1 (G1282V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282624	NM_173651.4(FSIP2):c.3878A>G (p.Lys1293Arg)	FSIP2-AS1, FSIP2 (K1293R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213137	NM_173651.4(FSIP2):c.3939C>A (p.His1313Gln)	FSIP2-AS1, FSIP2 (H1313Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475709	NM_173651.4(FSIP2):c.3965T>C (p.Ile1322Thr)	FSIP2, FSIP2-AS1 (I1322T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217677	NM_173651.4(FSIP2):c.4099T>C (p.Ser1367Pro)	FSIP2, FSIP2-AS1 (S1367P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222151	NM_173651.4(FSIP2):c.4119A>T (p.Gln1373His)	FSIP2, FSIP2-AS1 (Q1373H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235675	NM_173651.4(FSIP2):c.4133T>A (p.Leu1378His)	FSIP2, FSIP2-AS1 (L1378H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462130	NM_173651.4(FSIP2):c.4174G>A (p.Val1392Ile)	FSIP2, FSIP2-AS1 (V1392I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315939	NM_173651.4(FSIP2):c.4184T>A (p.Ile1395Asn)	FSIP2, FSIP2-AS1 (I1395N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379393	NM_173651.4(FSIP2):c.4211C>A (p.Ser1404Tyr)	FSIP2-AS1, FSIP2 (S1404Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460153	NM_173651.4(FSIP2):c.4234C>T (p.Pro1412Ser)	FSIP2, FSIP2-AS1 (P1412S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204763	NM_173651.4(FSIP2):c.4245C>A (p.His1415Gln)	FSIP2-AS1, FSIP2 (H1415Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477818	NM_173651.4(FSIP2):c.4327A>C (p.Met1443Leu)	FSIP2, FSIP2-AS1 (M1443L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535041	NM_173651.4(FSIP2):c.4333A>G (p.Ser1445Gly)	FSIP2, FSIP2-AS1 (S1445G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407442	NM_173651.4(FSIP2):c.4339C>T (p.Leu1447Phe)	FSIP2-AS1, FSIP2 (L1447F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247013	NM_173651.4(FSIP2):c.4375A>T (p.Ser1459Cys)	FSIP2, FSIP2-AS1 (S1459C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480331	NM_173651.4(FSIP2):c.4401T>A (p.Asn1467Lys)	FSIP2-AS1, FSIP2 (N1467K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226443	NM_173651.4(FSIP2):c.4438A>G (p.Ile1480Val)	FSIP2, FSIP2-AS1 (I1480V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594798	NM_173651.4(FSIP2):c.4498A>G (p.Met1500Val)	FSIP2, FSIP2-AS1 (M1500V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471975	NM_173651.4(FSIP2):c.4587A>C (p.Lys1529Asn)	FSIP2, FSIP2-AS1 (K1529N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280802	NM_173651.4(FSIP2):c.4592C>T (p.Ala1531Val)	FSIP2-AS1, FSIP2 (A1531V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1048953	NM_173651.4(FSIP2):c.4597T>A (p.Ser1533Thr)	FSIP2, FSIP2-AS1 (S1533T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2334052	NM_173651.4(FSIP2):c.4654G>A (p.Glu1552Lys)	FSIP2-AS1, FSIP2 (E1552K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533284	NM_173651.4(FSIP2):c.4685C>T (p.Pro1562Leu)	FSIP2, FSIP2-AS1 (P1562L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246002	NM_173651.4(FSIP2):c.4750G>C (p.Asp1584His)	FSIP2-AS1, FSIP2 (D1584H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543626	NM_173651.4(FSIP2):c.4857G>C (p.Trp1619Cys)	FSIP2, FSIP2-AS1 (W1619C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603240	NM_173651.4(FSIP2):c.5005G>A (p.Val1669Ile)	FSIP2, FSIP2-AS1 (V1669I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546074	NM_173651.4(FSIP2):c.5015C>G (p.Pro1672Arg)	FSIP2, FSIP2-AS1 (P1672R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468835	NM_173651.4(FSIP2):c.5036T>G (p.Leu1679Arg)	FSIP2, FSIP2-AS1 (L1679R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390716	NM_173651.4(FSIP2):c.5060T>C (p.Leu1687Ser)	FSIP2-AS1, FSIP2 (L1687S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382546	NM_173651.4(FSIP2):c.5114T>C (p.Ile1705Thr)	FSIP2-AS1, FSIP2 (I1705T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596333	NM_173651.4(FSIP2):c.5284T>G (p.Leu1762Val)	FSIP2, FSIP2-AS1 (L1762V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544393	NM_173651.4(FSIP2):c.5318A>G (p.His1773Arg)	FSIP2, FSIP2-AS1 (H1773R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381536	NM_173651.4(FSIP2):c.5330T>A (p.Ile1777Asn)	FSIP2, FSIP2-AS1 (I1777N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277359	NM_173651.4(FSIP2):c.5428A>C (p.Met1810Leu)	FSIP2-AS1, FSIP2 (M1810L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349521	NM_173651.4(FSIP2):c.5515A>G (p.Ile1839Val)	FSIP2-AS1, FSIP2 (I1839V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2380376	NM_173651.4(FSIP2):c.5599A>G (p.Asn1867Asp)	FSIP2, FSIP2-AS1 (N1867D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544404	NM_173651.4(FSIP2):c.5675C>T (p.Thr1892Met)	FSIP2, FSIP2-AS1 (T1892M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329677	NM_173651.4(FSIP2):c.5874C>A (p.His1958Gln)	FSIP2, FSIP2-AS1 (H1958Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525202	NM_173651.4(FSIP2):c.5927T>G (p.Phe1976Cys)	FSIP2, FSIP2-AS1 (F1976C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273228	NM_173651.4(FSIP2):c.6074C>G (p.Pro2025Arg)	FSIP2-AS1, FSIP2 (P2025R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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