ZC3H13[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	LOC126861769, LOC126861770 +437 more	Copy number loss	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 57643	GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1	LOC126861771, LOC126861772 +215 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 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 2238359	NM_001330564.2(ZC3H13):c.4236G>C (p.Leu1412Phe)	ZC3H13 (L1245F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214464	NM_001330564.2(ZC3H13):c.4228C>A (p.Leu1410Ile)	ZC3H13 (L1243I +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 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 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 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 2232017	NM_001330564.2(ZC3H13):c.4013A>G (p.Asp1338Gly)	ZC3H13 (D1338G +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 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 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 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 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 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 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 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 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 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 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 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 2643807	NM_001330564.2(ZC3H13):c.3453T>C (p.Phe1151=)	ZC3H13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 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 2212903	NM_001330564.2(ZC3H13):c.3140A>G (p.Asn1047Ser)	ZC3H13 (N1047S +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 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 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 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 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 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 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 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 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 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 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 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 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
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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