17808[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
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 2636508	NM_015168.2(ZC3H4):c.3899C>G (p.Pro1300Arg)	ZC3H4 (P1300R)	Single nucleotide variant (missense variant)	ZC3H4-related disorder	GUncertain significance
Select item 3053829	NM_015168.2(ZC3H4):c.3834C>T (p.Arg1278=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder	GBenign
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 2364639	NM_015168.2(ZC3H4):c.3746A>G (p.Asn1249Ser)	ZC3H4 (N1249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385558	NM_015168.2(ZC3H4):c.3700G>A (p.Ala1234Thr)	ZC3H4 (A1234T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038500	NM_015168.2(ZC3H4):c.3699C>T (p.Thr1233=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder	GBenign
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 3192401	NM_015168.2(ZC3H4):c.3685C>T (p.Pro1229Ser)	ZC3H4 (P1229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2519239	NM_015168.2(ZC3H4):c.3658C>T (p.Arg1220Trp)	ZC3H4 (R1220W)	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 3034160	NM_015168.2(ZC3H4):c.3612C>T (p.Ala1204=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder	GBenign
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 2335969	NM_015168.2(ZC3H4):c.3502G>A (p.Gly1168Ser)	ZC3H4 (G1168S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3051234	NM_015168.2(ZC3H4):c.3468G>A (p.Ala1156=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder	GLikely benign
Select item 769023	NM_015168.2(ZC3H4):c.3393G>C (p.Leu1131=)	ZC3H4	Single nucleotide variant (synonymous variant)	not provided	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 3039780	NM_015168.2(ZC3H4):c.3319G>A (p.Ala1107Thr)	ZC3H4 (A1107T)	Single nucleotide variant (missense variant)	ZC3H4-related disorder	GLikely benign
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 3192399	NM_015168.2(ZC3H4):c.3305C>T (p.Ala1102Val)	ZC3H4 (A1102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 794618	NM_015168.2(ZC3H4):c.3285C>T (p.Ala1095=)	ZC3H4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3334081	NM_015168.2(ZC3H4):c.3277C>T (p.Arg1093Trp)	ZC3H4 (R1093W)	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 2598731	NM_015168.2(ZC3H4):c.3196G>A (p.Asp1066Asn)	ZC3H4 (D1066N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271773	NM_015168.2(ZC3H4):c.3188G>C (p.Gly1063Ala)	ZC3H4 (G1063A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3192397	NM_015168.2(ZC3H4):c.3173C>T (p.Ser1058Phe)	ZC3H4 (S1058F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 755416	NM_015168.2(ZC3H4):c.3156A>G (p.Thr1052=)	ZC3H4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3334084	NM_015168.2(ZC3H4):c.3085G>A (p.Ala1029Thr)	ZC3H4 (A1029T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2385470	NM_015168.2(ZC3H4):c.3070C>T (p.Arg1024Trp)	ZC3H4 (R1024W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405899	NM_015168.2(ZC3H4):c.3067G>A (p.Ala1023Thr)	ZC3H4 (A1023T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718258	NM_015168.2(ZC3H4):c.3066C>T (p.Asn1022=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder +1 more	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 3334080	NM_015168.2(ZC3H4):c.3058C>A (p.Pro1020Thr)	ZC3H4 (P1020T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220796	NM_015168.2(ZC3H4):c.3031C>T (p.Arg1011Trp)	ZC3H4 (R1011W)	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 2568181	NM_015168.2(ZC3H4):c.2998G>A (p.Ala1000Thr)	ZC3H4 (A1000T)	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 2470984	NM_015168.2(ZC3H4):c.2965A>C (p.Ile989Leu)	ZC3H4 (I989L)	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 2331246	NM_015168.2(ZC3H4):c.2797C>T (p.Arg933Trp)	ZC3H4 (R933W)	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 2408145	NM_015168.2(ZC3H4):c.2761C>T (p.Pro921Ser)	ZC3H4 (P921S)	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 3035899	NM_015168.2(ZC3H4):c.2683G>A (p.Ala895Thr)	ZC3H4 (A895T)	Single nucleotide variant (missense variant)	ZC3H4-related disorder	GLikely benign
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 3033487	NM_015168.2(ZC3H4):c.2664C>T (p.Ser888=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder	GLikely benign
Select item 2215265	NM_015168.2(ZC3H4):c.2654C>T (p.Ser885Leu)	ZC3H4 (S885L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328978	NM_015168.2(ZC3H4):c.2644C>A (p.Pro882Thr)	ZC3H4 (P882T)	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 2605885	NM_015168.2(ZC3H4):c.2602C>T (p.Pro868Ser)	ZC3H4 (P868S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216949	NM_015168.2(ZC3H4):c.2572C>T (p.Arg858Trp)	ZC3H4 (R858W)	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 2376576	NM_015168.2(ZC3H4):c.2540C>G (p.Pro847Arg)	ZC3H4 (P847R)	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 2324905	NM_015168.2(ZC3H4):c.2492G>C (p.Arg831Pro)	ZC3H4 (R831P)	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 2494921	NM_015168.2(ZC3H4):c.2483C>T (p.Thr828Met)	ZC3H4 (T828M)	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 2557314	NM_015168.2(ZC3H4):c.2377C>G (p.Gln793Glu)	ZC3H4 (Q793E)	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 3051712	NM_015168.2(ZC3H4):c.2352G>A (p.Ala784=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder	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 3039743	NM_015168.2(ZC3H4):c.2221G>C (p.Asp741His)	ZC3H4 (D741H)	Single nucleotide variant (missense variant)	ZC3H4-related disorder	GLikely benign
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 3334093	NM_015168.2(ZC3H4):c.2192A>C (p.His731Pro)	ZC3H4 (H731P)	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 3334095	NM_015168.2(ZC3H4):c.2039C>G (p.Pro680Arg)	ZC3H4 (P680R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055299	NM_015168.2(ZC3H4):c.2037C>T (p.Ser679=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder	GBenign
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 2284441	NM_015168.2(ZC3H4):c.2011A>G (p.Met671Val)	ZC3H4 (M671V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221175	NM_015168.2(ZC3H4):c.1997C>G (p.Pro666Arg)	ZC3H4 (P666R)	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 2569842	NM_015168.2(ZC3H4):c.1962G>A (p.Met654Ile)	ZC3H4 (M654I)	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 2352873	NM_015168.2(ZC3H4):c.1958C>T (p.Pro653Leu)	ZC3H4 (P653L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774959	NM_015168.2(ZC3H4):c.1934ACGCAGACATGC[1] (p.645HADM[1])	ZC3H4	Microsatellite (inframe_deletion)	ZC3H4-related disorder +1 more	GBenign/Likely benign
Select item 3047997	NM_015168.2(ZC3H4):c.1902_1925del (p.630PDMH[2])	ZC3H4	Deletion (inframe deletion)	ZC3H4-related disorder	GLikely benign
Select item 2269524	NM_015168.2(ZC3H4):c.1909C>T (p.His637Tyr)	ZC3H4 (H637Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770287	NM_015168.2(ZC3H4):c.1902C>G (p.Pro634=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder +1 more	GBenign/Likely benign
Select item 2381693	NM_015168.2(ZC3H4):c.1897C>T (p.His633Tyr)	ZC3H4 (H633Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299523	NM_015168.2(ZC3H4):c.1891G>T (p.Asp631Tyr)	ZC3H4 (D631Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770288	NM_015168.2(ZC3H4):c.1890T>C (p.Pro630=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder +1 more	GBenign
Select item 770289	NM_015168.2(ZC3H4):c.1887T>C (p.His629=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder +1 more	GBenign
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 3055576	NM_015168.2(ZC3H4):c.1833A>C (p.Pro611=)	ZC3H4	Single nucleotide variant (synonymous variant)	ZC3H4-related disorder	GLikely benign
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 3192382	NM_015168.2(ZC3H4):c.1759G>A (p.Val587Met)	ZC3H4 (V587M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211117	NM_015168.2(ZC3H4):c.1731C>G (p.Asn577Lys)	ZC3H4 (N577K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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