FSIP2-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148022	GRCh38/hg38 2q31.3-32.1(chr2:180942902-187372388)x1	CALCRL, CALCRL-AS1 +88 more	Copy number loss	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 153682	GRCh38/hg38 2q32.1(chr2:185571260-185998642)x1	FSIP2, FSIP2-AS1 +4 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 148325	GRCh38/hg38 2q32.1(chr2:185760952-186336114)x1	FSIP2, FSIP2-AS1 +2 more	Copy number loss	See cases	GLikely benign
Select item 586970	NM_173651.4(FSIP2):c.1607_1616delinsTGT (p.Lys536fs)	FSIP2, FSIP2-AS1 (K536fs)	Indel (frameshift variant)	Spermatogenic failure 34	GPathogenic
Select item 2527793	NM_173651.4(FSIP2):c.1625C>T (p.Thr542Ile)	FSIP2, FSIP2-AS1 (T542I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1176751	NM_173651.4(FSIP2):c.1628A>T (p.Tyr543Phe)	FSIP2, FSIP2-AS1 (Y543F)	Single nucleotide variant (missense variant)	not provided	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)	not specified	GUncertain significance
Select item 3037631	NM_173651.4(FSIP2):c.1639G>A (p.Asp547Asn)	FSIP2, FSIP2-AS1 (D547N)	Single nucleotide variant (non-coding transcript variant +1 more)	FSIP2-related disorder	GLikely benign
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)	not specified	GUncertain significance
Select item 1709917	NM_173651.4(FSIP2):c.1660_1662dup (p.Asp554_Ser555insAsp)	FSIP2, FSIP2-AS1	Duplication (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3059073	NM_173651.4(FSIP2):c.1683G>A (p.Thr561=)	FSIP2, FSIP2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	FSIP2-related disorder	GBenign
Select item 3024569	NM_173651.4(FSIP2):c.1703A>T (p.Tyr568Phe)	FSIP2, FSIP2-AS1 (Y568F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3097263	NM_173651.4(FSIP2):c.1711T>C (p.Tyr571His)	FSIP2, FSIP2-AS1 (Y571H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2488952	NM_173651.4(FSIP2):c.1724C>T (p.Thr575Ile)	FSIP2, FSIP2-AS1 (T575I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	GLikely benign
Select item 1675831	NM_173651.4(FSIP2):c.1770G>A (p.Thr590=)	FSIP2, FSIP2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 2343631	NM_173651.4(FSIP2):c.1775T>C (p.Val592Ala)	FSIP2, FSIP2-AS1 (V592A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3097267	NM_173651.4(FSIP2):c.1792C>T (p.Pro598Ser)	FSIP2, FSIP2-AS1 (P598S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2217606	NM_173651.4(FSIP2):c.1918C>T (p.Leu640Phe)	FSIP2, FSIP2-AS1 (L640F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097270	NM_173651.4(FSIP2):c.1948T>G (p.Leu650Val)	FSIP2, FSIP2-AS1 (L650V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460819	NM_173651.4(FSIP2):c.2043A>C (p.Lys681Asn)	FSIP2, FSIP2-AS1 (K681N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493571	NM_173651.4(FSIP2):c.2045C>G (p.Ala682Gly)	FSIP2, FSIP2-AS1 (A682G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391569	NM_173651.4(FSIP2):c.2052T>A (p.Asp684Glu)	FSIP2, FSIP2-AS1 (D684E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034979	NM_173651.4(FSIP2):c.2091A>G (p.Lys697=)	FSIP2, FSIP2-AS1	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GBenign
Select item 3097272	NM_173651.4(FSIP2):c.2174C>G (p.Ser725Cys)	FSIP2, FSIP2-AS1 (S725C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590621	NM_173651.4(FSIP2):c.2219G>A (p.Arg740His)	FSIP2, FSIP2-AS1 (R740H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3097273	NM_173651.4(FSIP2):c.2269G>A (p.Glu757Lys)	FSIP2, FSIP2-AS1 (E757K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278353	NM_173651.4(FSIP2):c.2276T>C (p.Val759Ala)	FSIP2, FSIP2-AS1 (V759A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 586973	NM_173651.4(FSIP2):c.2282dup (p.Asn761fs)	FSIP2, FSIP2-AS1 (N761fs)	Duplication (frameshift variant)	Spermatogenic failure 34	GPathogenic
Select item 2265176	NM_173651.4(FSIP2):c.2297T>C (p.Leu766Ser)	FSIP2, FSIP2-AS1 (L766S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097274	NM_173651.4(FSIP2):c.2302T>C (p.Ser768Pro)	FSIP2, FSIP2-AS1 (S768P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216288	NM_173651.4(FSIP2):c.2308G>C (p.Val770Leu)	FSIP2, FSIP2-AS1 (V770L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354223	NM_173651.4(FSIP2):c.2422T>G (p.Ser808Ala)	FSIP2, FSIP2-AS1 (S808A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476005	NM_173651.4(FSIP2):c.2437T>G (p.Leu813Val)	FSIP2, FSIP2-AS1 (L813V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097276	NM_173651.4(FSIP2):c.2454T>A (p.Asp818Glu)	FSIP2, FSIP2-AS1 (D818E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060798	NM_173651.4(FSIP2):c.2455A>T (p.Ile819Phe)	FSIP2, FSIP2-AS1 (I819F)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GLikely benign
Select item 2560079	NM_173651.4(FSIP2):c.2557T>G (p.Cys853Gly)	FSIP2, FSIP2-AS1 (C853G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598538	NM_173651.4(FSIP2):c.2567A>T (p.His856Leu)	FSIP2, FSIP2-AS1 (H856L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560865	NM_173651.4(FSIP2):c.2573C>T (p.Thr858Ile)	FSIP2, FSIP2-AS1 (T858I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042458	NM_173651.4(FSIP2):c.2584T>C (p.Cys862Arg)	FSIP2, FSIP2-AS1 (C862R)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GBenign
Select item 2296040	NM_173651.4(FSIP2):c.2620A>C (p.Ser874Arg)	FSIP2, FSIP2-AS1 (S874R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1048893	NM_173651.4(FSIP2):c.2620A>T (p.Ser874Cys)	FSIP2, FSIP2-AS1 (S874C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3097277	NM_173651.4(FSIP2):c.2632G>C (p.Asp878His)	FSIP2, FSIP2-AS1 (D878H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477117	NM_173651.4(FSIP2):c.2643T>A (p.Ser881Arg)	FSIP2, FSIP2-AS1 (S881R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331978	NM_173651.4(FSIP2):c.2653A>G (p.Asn885Asp)	FSIP2, FSIP2-AS1 (N885D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065719	NM_173651.4(FSIP2):c.2680_2693del (p.Asn894fs)	FSIP2, FSIP2-AS1 (N894fs)	Deletion (frameshift variant)	Spermatogenic failure 34	GLikely pathogenic
Select item 3058661	NM_173651.4(FSIP2):c.2712T>C (p.Tyr904=)	FSIP2, FSIP2-AS1	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GLikely benign
Select item 3060908	NM_173651.4(FSIP2):c.2729A>G (p.Asn910Ser)	FSIP2, FSIP2-AS1 (N910S)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GBenign
Select item 2329815	NM_173651.4(FSIP2):c.2764A>T (p.Asn922Tyr)	FSIP2, FSIP2-AS1 (N922Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320626	NM_173651.4(FSIP2):c.2769G>C (p.Glu923Asp)	FSIP2, FSIP2-AS1 (E923D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545948	NM_173651.4(FSIP2):c.2783C>G (p.Ser928Cys)	FSIP2, FSIP2-AS1 (S928C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097278	NM_173651.4(FSIP2):c.2813T>C (p.Leu938Pro)	FSIP2, FSIP2-AS1 (L938P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280668	NM_173651.4(FSIP2):c.2886A>G (p.Ile962Met)	FSIP2, FSIP2-AS1 (I962M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059151	NM_173651.4(FSIP2):c.3004G>C (p.Asp1002His)	FSIP2, FSIP2-AS1 (D1002H)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GBenign
Select item 2601832	NM_173651.4(FSIP2):c.3009T>A (p.Asp1003Glu)	FSIP2, FSIP2-AS1 (D1003E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393585	NM_173651.4(FSIP2):c.3018G>C (p.Glu1006Asp)	FSIP2, FSIP2-AS1 (E1006D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528541	NM_173651.4(FSIP2):c.3055A>G (p.Thr1019Ala)	FSIP2, FSIP2-AS1 (T1019A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097280	NM_173651.4(FSIP2):c.3109A>G (p.Thr1037Ala)	FSIP2, FSIP2-AS1 (T1037A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097281	NM_173651.4(FSIP2):c.3140G>T (p.Arg1047Ile)	FSIP2, FSIP2-AS1 (R1047I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318169	NM_173651.4(FSIP2):c.3157A>G (p.Thr1053Ala)	FSIP2, FSIP2-AS1 (T1053A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473496	NM_173651.4(FSIP2):c.3299A>G (p.His1100Arg)	FSIP2, FSIP2-AS1 (H1100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097283	NM_173651.4(FSIP2):c.3313G>C (p.Ala1105Pro)	FSIP2, FSIP2-AS1 (A1105P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463840	NM_173651.4(FSIP2):c.3365C>G (p.Ser1122Cys)	FSIP2, FSIP2-AS1 (S1122C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281509	NM_173651.4(FSIP2):c.3623A>C (p.Glu1208Ala)	FSIP2, FSIP2-AS1 (E1208A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039454	NM_173651.4(FSIP2):c.3642A>C (p.Ala1214=)	FSIP2, FSIP2-AS1	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GLikely benign
Select item 2320205	NM_173651.4(FSIP2):c.3788T>A (p.Ile1263Asn)	FSIP2, FSIP2-AS1 (I1263N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097285	NM_173651.4(FSIP2):c.3793C>T (p.Arg1265Cys)	FSIP2, FSIP2-AS1 (R1265C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041888	NM_173651.4(FSIP2):c.3794G>A (p.Arg1265His)	FSIP2, FSIP2-AS1 (R1265H)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GBenign
Select item 2354336	NM_173651.4(FSIP2):c.3816G>T (p.Lys1272Asn)	FSIP2, FSIP2-AS1 (K1272N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553530	NM_173651.4(FSIP2):c.3845G>T (p.Gly1282Val)	FSIP2, FSIP2-AS1 (G1282V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097286	NM_173651.4(FSIP2):c.3851A>G (p.Lys1284Arg)	FSIP2, FSIP2-AS1 (K1284R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059504	NM_173651.4(FSIP2):c.3863G>A (p.Arg1288Gln)	FSIP2, FSIP2-AS1 (R1288Q)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GBenign
Select item 2282624	NM_173651.4(FSIP2):c.3878A>G (p.Lys1293Arg)	FSIP2, FSIP2-AS1 (K1293R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097288	NM_173651.4(FSIP2):c.3932A>C (p.Glu1311Ala)	FSIP2-AS1, FSIP2 (E1311A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213137	NM_173651.4(FSIP2):c.3939C>A (p.His1313Gln)	FSIP2, FSIP2-AS1 (H1313Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 207908	NM_173651.4(FSIP2):c.3943G>A (p.Glu1315Lys)	FSIP2-AS1, FSIP2 (E1315K)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 2475709	NM_173651.4(FSIP2):c.3965T>C (p.Ile1322Thr)	FSIP2, FSIP2-AS1 (I1322T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057160	NM_173651.4(FSIP2):c.4037C>T (p.Thr1346Met)	FSIP2, FSIP2-AS1 (T1346M)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GBenign
Select item 2217677	NM_173651.4(FSIP2):c.4099T>C (p.Ser1367Pro)	FSIP2, FSIP2-AS1 (S1367P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222151	NM_173651.4(FSIP2):c.4119A>T (p.Gln1373His)	FSIP2, FSIP2-AS1 (Q1373H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235675	NM_173651.4(FSIP2):c.4133T>A (p.Leu1378His)	FSIP2, FSIP2-AS1 (L1378H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462130	NM_173651.4(FSIP2):c.4174G>A (p.Val1392Ile)	FSIP2, FSIP2-AS1 (V1392I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315939	NM_173651.4(FSIP2):c.4184T>A (p.Ile1395Asn)	FSIP2, FSIP2-AS1 (I1395N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379393	NM_173651.4(FSIP2):c.4211C>A (p.Ser1404Tyr)	FSIP2, FSIP2-AS1 (S1404Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460153	NM_173651.4(FSIP2):c.4234C>T (p.Pro1412Ser)	FSIP2, FSIP2-AS1 (P1412S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204763	NM_173651.4(FSIP2):c.4245C>A (p.His1415Gln)	FSIP2, FSIP2-AS1 (H1415Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097289	NM_173651.4(FSIP2):c.4267C>T (p.His1423Tyr)	FSIP2, FSIP2-AS1 (H1423Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651743	NM_173651.4(FSIP2):c.4316C>G (p.Thr1439Arg)	FSIP2, FSIP2-AS1 (T1439R)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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