ClinVar for Gene (Select 23091) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 160

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334050	NM_001330564.2(ZC3H13):c.1229A>T (p.His410Leu)	ZC3H13 (H243L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334049	NM_001330564.2(ZC3H13):c.3775C>T (p.Pro1259Ser)	ZC3H13 (P1259S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334048	NM_001330564.2(ZC3H13):c.197G>A (p.Arg66His)	ZC3H13 (R66H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334047	NM_001330564.2(ZC3H13):c.3241G>A (p.Ala1081Thr)	ZC3H13 (A1081T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334046	NM_001330564.2(ZC3H13):c.4123A>G (p.Arg1375Gly)	ZC3H13 (R1208G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334044	NM_001330564.2(ZC3H13):c.218A>G (p.Asn73Ser)	ZC3H13 (N73S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334043	NM_001330564.2(ZC3H13):c.2892G>T (p.Lys964Asn)	ZC3H13 (K964N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334042	NM_001330564.2(ZC3H13):c.3544A>C (p.Lys1182Gln)	ZC3H13 (K1015Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334041	NM_001330564.2(ZC3H13):c.629C>T (p.Pro210Leu)	ZC3H13 (P210L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334040	NM_001330564.2(ZC3H13):c.1945G>A (p.Gly649Arg)	ZC3H13 (G482R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334039	NM_001330564.2(ZC3H13):c.2089C>T (p.Arg697Trp)	ZC3H13 (R697W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334038	NM_001330564.2(ZC3H13):c.2525G>A (p.Arg842His)	ZC3H13 (R675H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334037	NM_001330564.2(ZC3H13):c.4210A>G (p.Ser1404Gly)	ZC3H13 (S1237G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3192319	NM_001330564.2(ZC3H13):c.897C>A (p.Asp299Glu)	ZC3H13 (D132E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192318	NM_001330564.2(ZC3H13):c.811C>G (p.Pro271Ala)	ZC3H13 (P104A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192317	NM_001330564.2(ZC3H13):c.784C>T (p.Arg262Cys)	ZC3H13 (R262C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192316	NM_001330564.2(ZC3H13):c.508C>A (p.Arg170Ser)	ZC3H13 (R3S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192314	NM_001330564.2(ZC3H13):c.4168T>C (p.Cys1390Arg)	ZC3H13 (C1223R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192313	NM_001330564.2(ZC3H13):c.4041A>C (p.Arg1347Ser)	ZC3H13 (R1180S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192311	NM_001330564.2(ZC3H13):c.3719G>A (p.Ser1240Asn)	ZC3H13 (S1240N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192310	NM_001330564.2(ZC3H13):c.3491G>A (p.Arg1164Gln)	ZC3H13 (R1164Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192309	NM_001330564.2(ZC3H13):c.3409A>G (p.Ile1137Val)	ZC3H13 (I1165V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192308	NM_001330564.2(ZC3H13):c.3104C>A (p.Pro1035His)	ZC3H13 (P868H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192306	NM_001330564.2(ZC3H13):c.3064G>A (p.Ala1022Thr)	ZC3H13 (A1050T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192305	NM_001330564.2(ZC3H13):c.2963A>G (p.Asp988Gly)	ZC3H13 (D1016G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192304	NM_001330564.2(ZC3H13):c.2942A>T (p.Asn981Ile)	ZC3H13 (N814I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192303	NM_001330564.2(ZC3H13):c.2711G>A (p.Arg904His)	ZC3H13 (R932H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192302	NM_001330564.2(ZC3H13):c.2621G>A (p.Arg874His)	ZC3H13 (R902H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192301	NM_001330564.2(ZC3H13):c.2552A>G (p.Tyr851Cys)	ZC3H13 (Y851C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192300	NM_001330564.2(ZC3H13):c.1777C>T (p.His593Tyr)	ZC3H13 (H593Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192299	NM_001330564.2(ZC3H13):c.1529G>A (p.Arg510His)	ZC3H13 (R343H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192298	NM_001330564.2(ZC3H13):c.1109C>T (p.Ser370Phe)	ZC3H13 (S370F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192297	NM_001330564.2(ZC3H13):c.104G>A (p.Gly35Asp)	ZC3H13 (G35D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063283	GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1	ALG11, ARL11 +77 more	Copy number loss	not specified	GPathogenic
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ITM2B, KBTBD6 +119 more	Copy number loss	not provided	GPathogenic
Select item 2643808	NM_001330564.2(ZC3H13):c.210T>C (p.Tyr70=)	ZC3H13	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2643807	NM_001330564.2(ZC3H13):c.3453T>C (p.Phe1151=)	ZC3H13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2643806	NM_001330564.2(ZC3H13):c.3494T>C (p.Val1165Ala)	ZC3H13 (V1165A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2621837	NM_001330564.2(ZC3H13):c.3373G>A (p.Ala1125Thr)	ZC3H13 (A1153T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611681	NM_001330564.2(ZC3H13):c.1550G>A (p.Arg517Gln)	ZC3H13 (R517Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596105	NM_001330564.2(ZC3H13):c.3595C>T (p.Arg1199Cys)	ZC3H13 (R1032C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594575	NM_001330564.2(ZC3H13):c.902G>A (p.Gly301Glu)	ZC3H13 (G134E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594275	NM_001330564.2(ZC3H13):c.2719G>A (p.Glu907Lys)	ZC3H13 (E740K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591554	NM_001330564.2(ZC3H13):c.3361G>C (p.Ala1121Pro)	ZC3H13 (A1149P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568246	NM_001330564.2(ZC3H13):c.1344T>A (p.Asp448Glu)	ZC3H13 (D281E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2566416	NM_001330564.2(ZC3H13):c.1372C>T (p.Arg458Trp)	ZC3H13 (R291W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2566400	NM_001330564.2(ZC3H13):c.2477A>G (p.Tyr826Cys)	ZC3H13 (Y854C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560452	NM_001330564.2(ZC3H13):c.424G>A (p.Val142Ile)	ZC3H13 (V142I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2555214	NM_001330564.2(ZC3H13):c.1818T>G (p.Asp606Glu)	ZC3H13 (D439E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546107	NM_001330564.2(ZC3H13):c.46A>G (p.Ile16Val)	ZC3H13 (I16V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2540401	NM_001330564.2(ZC3H13):c.1175G>C (p.Arg392Pro)	ZC3H13 (R225P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526104	NM_001330564.2(ZC3H13):c.1544C>G (p.Thr515Ser)	ZC3H13 (T348S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522359	NM_001330564.2(ZC3H13):c.680C>T (p.Ser227Leu)	ZC3H13 (S227L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520649	NM_001330564.2(ZC3H13):c.3914A>G (p.Tyr1305Cys)	ZC3H13 (Y1138C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508057	NM_001330564.2(ZC3H13):c.2636C>T (p.Ser879Leu)	ZC3H13 (S879L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495809	NM_001330564.2(ZC3H13):c.1845T>G (p.Asp615Glu)	ZC3H13 (D448E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492393	NM_001330564.2(ZC3H13):c.2411G>A (p.Arg804Gln)	ZC3H13 (R804Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484715	NM_001330564.2(ZC3H13):c.2111A>G (p.Glu704Gly)	ZC3H13 (E537G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483543	NM_001330564.2(ZC3H13):c.3947G>A (p.Arg1316Lys)	ZC3H13 (R1316K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482141	NM_001330564.2(ZC3H13):c.1894C>T (p.Arg632Cys)	ZC3H13 (R632C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481922	NM_001330564.2(ZC3H13):c.4616G>A (p.Gly1539Asp)	ZC3H13 (G1372D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476754	NM_001330564.2(ZC3H13):c.407A>G (p.Glu136Gly)	ZC3H13 (E136G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2476753	NM_001330564.2(ZC3H13):c.1966C>T (p.Arg656Cys)	ZC3H13 (R656C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467671	NM_001330564.2(ZC3H13):c.4564T>G (p.Phe1522Val)	ZC3H13 (F1355V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464403	NM_001330564.2(ZC3H13):c.980T>C (p.Ile327Thr)	ZC3H13 (I160T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460203	NM_001330564.2(ZC3H13):c.1796G>A (p.Arg599Gln)	ZC3H13 (R432Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455860	NM_001330564.2(ZC3H13):c.694A>G (p.Lys232Glu)	ZC3H13 (K65E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412366	NM_001330564.2(ZC3H13):c.3851G>A (p.Arg1284Gln)	ZC3H13 (R1284Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412202	NM_001330564.2(ZC3H13):c.4514T>G (p.Met1505Arg)	ZC3H13 (M1532R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403729	NM_001330564.2(ZC3H13):c.4534C>A (p.Pro1512Thr)	ZC3H13 (P1540T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399014	NM_001330564.2(ZC3H13):c.2944A>G (p.Ile982Val)	ZC3H13 (I1010V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396159	NM_001330564.2(ZC3H13):c.623C>T (p.Pro208Leu)	ZC3H13 (P208L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377565	NM_001330564.2(ZC3H13):c.2923G>T (p.Val975Phe)	ZC3H13 (V1003F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376138	NM_001330564.2(ZC3H13):c.2501C>T (p.Pro834Leu)	ZC3H13 (P862L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372786	NM_001330564.2(ZC3H13):c.3509C>T (p.Thr1170Met)	ZC3H13 (T1003M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371107	NM_001330564.2(ZC3H13):c.3443A>G (p.Asn1148Ser)	ZC3H13 (N1148S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357553	NM_001330564.2(ZC3H13):c.1049G>A (p.Arg350His)	ZC3H13 (R183H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356079	NM_001330564.2(ZC3H13):c.1902C>G (p.Asn634Lys)	ZC3H13 (N467K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355753	NM_001330564.2(ZC3H13):c.2135C>T (p.Ala712Val)	ZC3H13 (A545V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352677	NM_001330564.2(ZC3H13):c.2054G>T (p.Arg685Leu)	ZC3H13 (R713L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336861	NM_001330564.2(ZC3H13):c.3106A>G (p.Ile1036Val)	ZC3H13 (I1036V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336593	NM_001330564.2(ZC3H13):c.4340A>G (p.Lys1447Arg)	ZC3H13 (K1447R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335511	NM_001330564.2(ZC3H13):c.149A>G (p.Asn50Ser)	ZC3H13 (N50S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2329530	NM_001330564.2(ZC3H13):c.3457A>G (p.Asn1153Asp)	ZC3H13 (N1181D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323821	NM_001330564.2(ZC3H13):c.662G>A (p.Arg221Gln)	ZC3H13 (R221Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322009	NM_001330564.2(ZC3H13):c.1153A>G (p.Lys385Glu)	ZC3H13 (K218E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320739	NM_001330564.2(ZC3H13):c.2473C>T (p.Arg825Cys)	ZC3H13 (R658C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311834	NM_001330564.2(ZC3H13):c.4442G>T (p.Arg1481Met)	ZC3H13 (R1480M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298535	NM_001330564.2(ZC3H13):c.3263C>T (p.Thr1088Met)	ZC3H13 (T1088M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294865	NM_001330564.2(ZC3H13):c.2423G>A (p.Arg808Gln)	ZC3H13 (R808Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287645	NM_001330564.2(ZC3H13):c.934G>T (p.Asp312Tyr)	ZC3H13 (D312Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285621	NM_001330564.2(ZC3H13):c.2966G>T (p.Gly989Val)	ZC3H13 (G989V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277938	NM_001330564.2(ZC3H13):c.3160G>A (p.Glu1054Lys)	ZC3H13 (E887K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275505	NM_001330564.2(ZC3H13):c.464A>G (p.Asp155Gly)	ZC3H13 (D155G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2267041	NM_001330564.2(ZC3H13):c.2066G>A (p.Arg689Gln)	ZC3H13 (R689Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263289	NM_001330564.2(ZC3H13):c.3620G>A (p.Arg1207His)	ZC3H13 (R1207H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262123	NM_001330564.2(ZC3H13):c.2969A>C (p.Gln990Pro)	ZC3H13 (Q823P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249149	NM_001330564.2(ZC3H13):c.3108A>G (p.Ile1036Met)	ZC3H13 (I869M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247879	NM_001330564.2(ZC3H13):c.2672A>C (p.Glu891Ala)	ZC3H13 (E891A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

<< First< Prev

Page of 2