ClinVar for Gene (Select 643641) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259820	NM_001099220.3(ZNF862):c.1031G>A (p.Arg344Gln)	ZNF862 (R344Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259819	NM_001099220.3(ZNF862):c.1933C>A (p.Arg645Ser)	ZNF862 (R645S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259818	NM_001099220.3(ZNF862):c.1279T>C (p.Ser427Pro)	ZNF862 (S427P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259817	NM_001099220.3(ZNF862):c.191C>T (p.Pro64Leu)	ZNF862 (P64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259816	NM_001099220.3(ZNF862):c.995C>T (p.Pro332Leu)	ZNF862 (P332L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259815	NM_001099220.3(ZNF862):c.3284G>A (p.Arg1095His)	ZNF862 (R1095H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259814	NM_001099220.3(ZNF862):c.1897G>C (p.Asp633His)	ZNF862 (D633H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259813	NM_001099220.3(ZNF862):c.661A>G (p.Arg221Gly)	ZNF862 (R221G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198898	NM_001099220.3(ZNF862):c.997G>A (p.Val333Met)	ZNF862 (V333M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198897	NM_001099220.3(ZNF862):c.962C>T (p.Ser321Leu)	ZNF862 (S321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198896	NM_001099220.3(ZNF862):c.726C>G (p.Phe242Leu)	ZNF862 (F242L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198895	NM_001099220.3(ZNF862):c.652C>T (p.Arg218Trp)	ZNF862 (R218W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198894	NM_001099220.3(ZNF862):c.518A>G (p.Lys173Arg)	ZNF862 (K173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198892	NM_001099220.3(ZNF862):c.443C>T (p.Pro148Leu)	ZNF862 (P148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198891	NM_001099220.3(ZNF862):c.3505T>G (p.Ser1169Ala)	ZNF862 (S1169A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198890	NM_001099220.3(ZNF862):c.3430G>A (p.Val1144Ile)	ZNF862 (V1144I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198889	NM_001099220.3(ZNF862):c.3319G>T (p.Ala1107Ser)	ZNF862 (A1107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198888	NM_001099220.3(ZNF862):c.3223G>A (p.Val1075Ile)	ZNF862 (V1075I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198887	NM_001099220.3(ZNF862):c.2621G>A (p.Arg874His)	ZNF862 (R874H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198886	NM_001099220.3(ZNF862):c.2552A>G (p.Tyr851Cys)	ZNF862 (Y851C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198885	NM_001099220.3(ZNF862):c.2546G>A (p.Ser849Asn)	ZNF862 (S849N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198884	NM_001099220.3(ZNF862):c.247A>G (p.Lys83Glu)	ZNF862 (K83E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198883	NM_001099220.3(ZNF862):c.205G>A (p.Val69Ile)	ZNF862 (V69I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198882	NM_001099220.3(ZNF862):c.2056C>T (p.Arg686Trp)	ZNF862 (R686W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198881	NM_001099220.3(ZNF862):c.1901C>T (p.Ala634Val)	ZNF862 (A634V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198880	NM_001099220.3(ZNF862):c.179G>A (p.Arg60Gln)	ZNF862 (R60Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198879	NM_001099220.3(ZNF862):c.1780C>T (p.Arg594Cys)	ZNF862 (R594C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198878	NM_001099220.3(ZNF862):c.1645A>G (p.Ser549Gly)	ZNF862 (S549G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198877	NM_001099220.3(ZNF862):c.1570G>A (p.Ala524Thr)	ZNF862 (A524T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198876	NM_001099220.3(ZNF862):c.1550A>G (p.Lys517Arg)	ZNF862 (K517R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198875	NM_001099220.3(ZNF862):c.154C>G (p.Pro52Ala)	ZNF862 (P52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198874	NM_001099220.3(ZNF862):c.1160G>A (p.Arg387Gln)	ZNF862 (R387Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198873	NM_001099220.3(ZNF862):c.1127C>T (p.Ala376Val)	ZNF862 (A376V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198872	NM_001099220.3(ZNF862):c.1042G>A (p.Gly348Ser)	ZNF862 (G348S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062962	GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1	LOC100134040, LRRC61 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685275	GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1	TMEM176B, ZNF425 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2658156	NM_001099220.3(ZNF862):c.1986C>G (p.Leu662=)	ZNF862	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619722	NM_001099220.3(ZNF862):c.1913C>A (p.Ala638Asp)	ZNF862 (A638D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618606	NM_001099220.3(ZNF862):c.3358A>G (p.Met1120Val)	ZNF862 (M1120V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614509	NM_001099220.3(ZNF862):c.56A>C (p.Tyr19Ser)	ZNF862 (Y19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601462	NM_001099220.3(ZNF862):c.409C>T (p.Arg137Trp)	ZNF862 (R137W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599445	NM_001099220.3(ZNF862):c.1784A>G (p.Asn595Ser)	ZNF862 (N595S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598946	NM_001099220.3(ZNF862):c.3281G>A (p.Arg1094Gln)	ZNF862 (R1094Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597686	NM_001099220.3(ZNF862):c.1087C>T (p.Arg363Trp)	ZNF862 (R363W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595474	NM_001099220.3(ZNF862):c.3283C>T (p.Arg1095Cys)	ZNF862 (R1095C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592274	NM_001099220.3(ZNF862):c.376T>C (p.Trp126Arg)	ZNF862 (W126R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590552	NM_001099220.3(ZNF862):c.2167C>T (p.His723Tyr)	ZNF862 (H723Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2561759	NM_001099220.3(ZNF862):c.1934G>A (p.Arg645His)	ZNF862 (R645H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560063	NM_001099220.3(ZNF862):c.3133G>A (p.Ala1045Thr)	ZNF862 (A1045T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558065	NM_001099220.3(ZNF862):c.1662C>A (p.Asn554Lys)	ZNF862 (N554K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555219	NM_001099220.3(ZNF862):c.734C>A (p.Pro245Gln)	ZNF862 (P245Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549797	NM_001099220.3(ZNF862):c.146T>C (p.Val49Ala)	ZNF862 (V49A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527715	NM_001099220.3(ZNF862):c.2470C>T (p.Arg824Trp)	ZNF862 (R824W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520355	NM_001099220.3(ZNF862):c.3425C>T (p.Ala1142Val)	ZNF862 (A1142V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2519255	NM_001099220.3(ZNF862):c.1253C>T (p.Ala418Val)	ZNF862 (A418V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2519254	NM_001099220.3(ZNF862):c.1252G>T (p.Ala418Ser)	ZNF862 (A418S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519083	NM_001099220.3(ZNF862):c.2701C>T (p.Arg901Trp)	ZNF862 (R901W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517104	NM_001099220.3(ZNF862):c.3429G>T (p.Glu1143Asp)	ZNF862 (E1143D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515381	NM_001099220.3(ZNF862):c.253A>G (p.Met85Val)	ZNF862 (M85V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512454	NM_001099220.3(ZNF862):c.1252G>A (p.Ala418Thr)	ZNF862 (A418T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495000	NM_001099220.3(ZNF862):c.3497C>T (p.Pro1166Leu)	ZNF862 (P1166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492632	NM_001099220.3(ZNF862):c.478T>C (p.Phe160Leu)	ZNF862 (F160L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492475	NM_001099220.3(ZNF862):c.2252G>A (p.Arg751His)	ZNF862 (R751H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491701	NM_001099220.3(ZNF862):c.3143G>A (p.Arg1048Gln)	ZNF862 (R1048Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480885	NM_001099220.3(ZNF862):c.2647C>T (p.Arg883Cys)	ZNF862 (R883C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479413	NM_001099220.3(ZNF862):c.1630G>T (p.Val544Phe)	ZNF862 (V544F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472196	NM_001099220.3(ZNF862):c.3149G>C (p.Arg1050Thr)	ZNF862 (R1050T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470961	NM_001099220.3(ZNF862):c.64C>G (p.Gln22Glu)	ZNF862 (Q22E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468351	NM_001099220.3(ZNF862):c.277G>A (p.Val93Met)	ZNF862 (V93M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466018	NM_001099220.3(ZNF862):c.1429G>A (p.Val477Ile)	ZNF862 (V477I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463758	NM_001099220.3(ZNF862):c.1913C>T (p.Ala638Val)	ZNF862 (A638V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462475	NM_001099220.3(ZNF862):c.2315C>G (p.Ala772Gly)	ZNF862 (A772G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458862	NM_001099220.3(ZNF862):c.3122G>A (p.Arg1041Gln)	ZNF862 (R1041Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456100	NM_001099220.3(ZNF862):c.2239G>A (p.Asp747Asn)	ZNF862 (D747N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2395724	NM_001099220.3(ZNF862):c.1999G>A (p.Ala667Thr)	ZNF862 (A667T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393484	NM_001099220.3(ZNF862):c.778A>T (p.Ser260Cys)	ZNF862 (S260C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391093	NM_001099220.3(ZNF862):c.1781G>A (p.Arg594His)	ZNF862 (R594H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390772	NM_001099220.3(ZNF862):c.2264A>G (p.Lys755Arg)	ZNF862 (K755R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390238	NM_001099220.3(ZNF862):c.1168G>A (p.Ala390Thr)	ZNF862 (A390T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377693	NM_001099220.3(ZNF862):c.3070A>C (p.Lys1024Gln)	ZNF862 (K1024Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372929	NM_001099220.3(ZNF862):c.455T>C (p.Met152Thr)	ZNF862 (M152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359126	NM_001099220.3(ZNF862):c.2782G>A (p.Gly928Arg)	ZNF862 (G928R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355697	NM_001099220.3(ZNF862):c.3499G>A (p.Gly1167Arg)	ZNF862 (G1167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350200	NM_001099220.3(ZNF862):c.850G>C (p.Asp284His)	ZNF862 (D284H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349284	NM_001099220.3(ZNF862):c.653G>A (p.Arg218Gln)	ZNF862 (R218Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2335319	NM_001099220.3(ZNF862):c.3169C>T (p.Leu1057Phe)	ZNF862 (L1057F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332040	NM_001099220.3(ZNF862):c.3143G>T (p.Arg1048Leu)	ZNF862 (R1048L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329717	NM_001099220.3(ZNF862):c.1874G>A (p.Ser625Asn)	ZNF862 (S625N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328735	NM_001099220.3(ZNF862):c.2186T>C (p.Leu729Pro)	ZNF862 (L729P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317795	NM_001099220.3(ZNF862):c.1417T>G (p.Phe473Val)	ZNF862 (F473V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305083	NM_001099220.3(ZNF862):c.1448C>A (p.Thr483Asn)	ZNF862 (T483N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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