ClinVar for Gene (Select 23211) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3347800	NM_015168.2(ZC3H4):c.2857C>T (p.Arg953Trp)	ZC3H4 (R953W)	Single nucleotide variant (missense variant)	ZC3H4-related disorder	GUncertain significance
Select item 3344081	NM_015168.2(ZC3H4):c.2252G>C (p.Arg751Pro)	ZC3H4 (R751P)	Single nucleotide variant (missense variant)	ZC3H4-related disorder	GUncertain significance
Select item 3334095	NM_015168.2(ZC3H4):c.2039C>G (p.Pro680Arg)	ZC3H4 (P680R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334094	NM_015168.2(ZC3H4):c.3233C>T (p.Thr1078Ile)	ZC3H4 (T1078I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334093	NM_015168.2(ZC3H4):c.2192A>C (p.His731Pro)	ZC3H4 (H731P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334092	NM_015168.2(ZC3H4):c.2671C>T (p.Arg891Trp)	ZC3H4 (R891W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334091	NM_015168.2(ZC3H4):c.1060A>G (p.Lys354Glu)	ZC3H4 (K354E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334090	NM_015168.2(ZC3H4):c.2981C>T (p.Ala994Val)	ZC3H4 (A994V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3334089	NM_015168.2(ZC3H4):c.2266G>A (p.Ala756Thr)	ZC3H4 (A756T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334088	NM_015168.2(ZC3H4):c.2635G>A (p.Gly879Arg)	ZC3H4 (G879R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334087	NM_015168.2(ZC3H4):c.767C>T (p.Ser256Leu)	ZC3H4 (S256L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334084	NM_015168.2(ZC3H4):c.3085G>A (p.Ala1029Thr)	ZC3H4 (A1029T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3334083	NM_015168.2(ZC3H4):c.3298G>A (p.Ala1100Thr)	ZC3H4 (A1100T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3334082	NM_015168.2(ZC3H4):c.709G>A (p.Gly237Ser)	ZC3H4 (G237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334081	NM_015168.2(ZC3H4):c.3277C>T (p.Arg1093Trp)	ZC3H4 (R1093W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334080	NM_015168.2(ZC3H4):c.3058C>A (p.Pro1020Thr)	ZC3H4 (P1020T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334079	NM_015168.2(ZC3H4):c.1958C>A (p.Pro653Gln)	ZC3H4 (P653Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192402	NM_015168.2(ZC3H4):c.3769G>A (p.Gly1257Arg)	ZC3H4 (G1257R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192401	NM_015168.2(ZC3H4):c.3685C>T (p.Pro1229Ser)	ZC3H4 (P1229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192400	NM_015168.2(ZC3H4):c.3625G>A (p.Gly1209Ser)	ZC3H4 (G1209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192399	NM_015168.2(ZC3H4):c.3305C>T (p.Ala1102Val)	ZC3H4 (A1102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192398	NM_015168.2(ZC3H4):c.3278G>A (p.Arg1093Gln)	ZC3H4 (R1093Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192397	NM_015168.2(ZC3H4):c.3173C>T (p.Ser1058Phe)	ZC3H4 (S1058F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192396	NM_015168.2(ZC3H4):c.3092C>T (p.Thr1031Met)	ZC3H4 (T1031M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192395	NM_015168.2(ZC3H4):c.3014T>C (p.Met1005Thr)	ZC3H4 (M1005T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192394	NM_015168.2(ZC3H4):c.2924G>A (p.Arg975His)	ZC3H4 (R975H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192393	NM_015168.2(ZC3H4):c.2789G>A (p.Arg930Gln)	ZC3H4 (R930Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192392	NM_015168.2(ZC3H4):c.2768C>T (p.Thr923Met)	ZC3H4 (T923M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192391	NM_015168.2(ZC3H4):c.2759C>T (p.Pro920Leu)	ZC3H4 (P920L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192390	NM_015168.2(ZC3H4):c.2758C>T (p.Pro920Ser)	ZC3H4 (P920S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192389	NM_015168.2(ZC3H4):c.2543G>A (p.Arg848His)	ZC3H4 (R848H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192388	NM_015168.2(ZC3H4):c.2489G>C (p.Ser830Thr)	ZC3H4 (S830T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192387	NM_015168.2(ZC3H4):c.2437G>A (p.Gly813Ser)	ZC3H4 (G813S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192386	NM_015168.2(ZC3H4):c.2023G>A (p.Gly675Ser)	ZC3H4 (G675S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192385	NM_015168.2(ZC3H4):c.1964G>T (p.Gly655Val)	ZC3H4 (G655V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192383	NM_015168.2(ZC3H4):c.1882A>G (p.Met628Val)	ZC3H4 (M628V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192382	NM_015168.2(ZC3H4):c.1759G>A (p.Val587Met)	ZC3H4 (V587M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192381	NM_015168.2(ZC3H4):c.1625C>T (p.Pro542Leu)	ZC3H4 (P542L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192380	NM_015168.2(ZC3H4):c.1577C>T (p.Pro526Leu)	ZC3H4 (P526L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192379	NM_015168.2(ZC3H4):c.130C>T (p.Leu44Phe)	ZC3H4 (L44F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192378	NM_015168.2(ZC3H4):c.124C>T (p.His42Tyr)	ZC3H4 (H42Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192377	NM_015168.2(ZC3H4):c.1142A>G (p.His381Arg)	ZC3H4 (H381R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192376	NM_015168.2(ZC3H4):c.1097A>T (p.Glu366Val)	ZC3H4 (E366V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192375	NM_015168.2(ZC3H4):c.1069A>G (p.Met357Val)	ZC3H4 (M357V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192374	NM_015168.2(ZC3H4):c.1066G>A (p.Gly356Arg)	ZC3H4 (G356R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060551	NM_015168.2(ZC3H4):c.1095C>T (p.Asp365=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder	GBenign
Select item 3059463	NM_015168.2(ZC3H4):c.1254C>G (p.Leu418=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder	GBenign
Select item 3056116	NM_015168.2(ZC3H4):c.1638TCCCCC[1] (p.Pro551_Pro552del)	ZC3H4	Microsatellite	ZC3H4-related disorder	GBenign
Select item 3056037	NM_015168.2(ZC3H4):c.7G>A (p.Ala3Thr)	ZC3H4 (A3T)	Single nucleotide variant (missense variant)	ZC3H4-related disorder	GBenign
Select item 3055576	NM_015168.2(ZC3H4):c.1833A>C (p.Pro611=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder	GLikely benign
Select item 3055300	NM_015168.2(ZC3H4):c.3683C>G (p.Ala1228Gly)	ZC3H4 (A1228G)	Single nucleotide variant (missense variant)	ZC3H4-related disorder	GBenign
Select item 3055299	NM_015168.2(ZC3H4):c.2037C>T (p.Ser679=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder	GBenign
Select item 3053829	NM_015168.2(ZC3H4):c.3834C>T (p.Arg1278=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder	GBenign
Select item 3051963	NM_015168.2(ZC3H4):c.3059C>T (p.Pro1020Leu)	ZC3H4 (P1020L)	Single nucleotide variant (missense variant)	ZC3H4-related disorder	GLikely benign
Select item 3051712	NM_015168.2(ZC3H4):c.2352G>A (p.Ala784=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder	GLikely benign
Select item 3051234	NM_015168.2(ZC3H4):c.3468G>A (p.Ala1156=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder	GLikely benign
Select item 3049540	NM_015168.2(ZC3H4):c.493-3C>T	ZC3H4	Single nucleotide variant (intron variant)	ZC3H4-related disorder	GBenign
Select item 3049196	NM_015168.2(ZC3H4):c.3307C>T (p.Pro1103Ser)	ZC3H4 (P1103S)	Single nucleotide variant (missense variant)	ZC3H4-related disorder	GLikely benign
Select item 3048110	NM_015168.2(ZC3H4):c.708C>T (p.Arg236=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder	GLikely benign
Select item 3047997	NM_015168.2(ZC3H4):c.1902_1925del (p.630PDMH[2])	ZC3H4	Deletion	ZC3H4-related disorder	GLikely benign
Select item 3044697	NM_015168.2(ZC3H4):c.1219-8T>C	ZC3H4	Single nucleotide variant (intron variant)	ZC3H4-related disorder	GBenign
Select item 3044464	NM_015168.2(ZC3H4):c.493-8G>T	ZC3H4	Single nucleotide variant (intron variant)	ZC3H4-related disorder	GBenign
Select item 3044231	NM_015168.2(ZC3H4):c.3171C>T (p.Gly1057=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder	GLikely benign
Select item 3043645	NM_015168.2(ZC3H4):c.1530G>A (p.Pro510=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder	GBenign
Select item 3042327	NM_015168.2(ZC3H4):c.3326C>T (p.Pro1109Leu)	ZC3H4 (P1109L)	Single nucleotide variant (missense variant)	ZC3H4-related disorder	GBenign
Select item 3041020	NM_015168.2(ZC3H4):c.3500C>T (p.Thr1167Met)	ZC3H4 (T1167M)	Single nucleotide variant (missense variant)	ZC3H4-related disorder	GLikely benign
Select item 3039780	NM_015168.2(ZC3H4):c.3319G>A (p.Ala1107Thr)	ZC3H4 (A1107T)	Single nucleotide variant (missense variant)	ZC3H4-related disorder	GLikely benign
Select item 3039743	NM_015168.2(ZC3H4):c.2221G>C (p.Asp741His)	ZC3H4 (D741H)	Single nucleotide variant (missense variant)	ZC3H4-related disorder	GLikely benign
Select item 3039654	NM_015168.2(ZC3H4):c.1441-5C>T	ZC3H4	Single nucleotide variant (intron variant)	ZC3H4-related disorder	GBenign
Select item 3038500	NM_015168.2(ZC3H4):c.3699C>T (p.Thr1233=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder	GBenign
Select item 3037877	NM_015168.2(ZC3H4):c.3182C>T (p.Ala1061Val)	ZC3H4 (A1061V)	Single nucleotide variant (missense variant)	ZC3H4-related disorder	GBenign
Select item 3035899	NM_015168.2(ZC3H4):c.2683G>A (p.Ala895Thr)	ZC3H4 (A895T)	Single nucleotide variant (missense variant)	ZC3H4-related disorder	GLikely benign
Select item 3034160	NM_015168.2(ZC3H4):c.3612C>T (p.Ala1204=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder	GBenign
Select item 3033487	NM_015168.2(ZC3H4):c.2664C>T (p.Ser888=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder	GLikely benign
Select item 2636508	NM_015168.2(ZC3H4):c.3899C>G (p.Pro1300Arg)	ZC3H4 (P1300R)	Single nucleotide variant (missense variant)	ZC3H4-related disorder	GUncertain significance
Select item 2620576	NM_015168.2(ZC3H4):c.215C>T (p.Thr72Ile)	ZC3H4 (T72I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613002	NM_015168.2(ZC3H4):c.2113A>G (p.Met705Val)	ZC3H4 (M705V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610877	NM_015168.2(ZC3H4):c.146C>T (p.Pro49Leu)	ZC3H4 (P49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609842	NM_015168.2(ZC3H4):c.3905G>A (p.Cys1302Tyr)	ZC3H4 (C1302Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605885	NM_015168.2(ZC3H4):c.2602C>T (p.Pro868Ser)	ZC3H4 (P868S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602072	NM_015168.2(ZC3H4):c.1825C>A (p.Pro609Thr)	ZC3H4 (P609T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598731	NM_015168.2(ZC3H4):c.3196G>A (p.Asp1066Asn)	ZC3H4 (D1066N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597127	NM_015168.2(ZC3H4):c.98C>A (p.Ser33Tyr)	ZC3H4 (S33Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569842	NM_015168.2(ZC3H4):c.1962G>A (p.Met654Ile)	ZC3H4 (M654I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568181	NM_015168.2(ZC3H4):c.2998G>A (p.Ala1000Thr)	ZC3H4 (A1000T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557314	NM_015168.2(ZC3H4):c.2377C>G (p.Gln793Glu)	ZC3H4 (Q793E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543454	NM_015168.2(ZC3H4):c.494C>G (p.Ser165Cys)	ZC3H4 (S165C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534763	NM_015168.2(ZC3H4):c.68C>T (p.Pro23Leu)	ZC3H4 (P23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522324	NM_015168.2(ZC3H4):c.248G>A (p.Arg83Gln)	ZC3H4 (R83Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521672	NM_015168.2(ZC3H4):c.3571G>A (p.Val1191Ile)	ZC3H4 (V1191I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521110	NM_015168.2(ZC3H4):c.2357G>A (p.Arg786Lys)	ZC3H4 (R786K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519239	NM_015168.2(ZC3H4):c.3658C>T (p.Arg1220Trp)	ZC3H4 (R1220W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510857	NM_015168.2(ZC3H4):c.3688G>A (p.Ala1230Thr)	ZC3H4 (A1230T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2504578	GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)	AP2S1, ARHGAP35 +25 more	Copy number gain	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 2494921	NM_015168.2(ZC3H4):c.2483C>T (p.Thr828Met)	ZC3H4 (T828M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470984	NM_015168.2(ZC3H4):c.2965A>C (p.Ile989Leu)	ZC3H4 (I989L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470179	NM_015168.2(ZC3H4):c.2527G>C (p.Gly843Arg)	ZC3H4 (G843R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409025	NM_015168.2(ZC3H4):c.155A>C (p.Asp52Ala)	ZC3H4 (D52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408621	NM_015168.2(ZC3H4):c.2219C>A (p.Pro740His)	ZC3H4 (P740H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408145	NM_015168.2(ZC3H4):c.2761C>T (p.Pro921Ser)	ZC3H4 (P921S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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