ZNF862[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
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 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	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 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 149558	GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4	ACTR3C, ARHGEF35 +172 more	Copy number gain	See cases	GLikely pathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	See cases	GPathogenic
Select item 57185	GRCh38/hg38 7q35-36.1(chr7:147345844-150426340)x1	ACTR3C, ATP6V0E2 +142 more	Copy number loss	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 144920	GRCh38/hg38 7q36.1(chr7:149666954-149906059)x3	ACTR3C, ATP6V0E2 +15 more	Copy number gain	See cases	GBenign
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 2470961	NM_001099220.3(ZNF862):c.64C>G (p.Gln22Glu)	ZNF862 (Q22E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282015	NM_001099220.3(ZNF862):c.124G>C (p.Val42Leu)	ZNF862 (V42L)	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 3198875	NM_001099220.3(ZNF862):c.154C>G (p.Pro52Ala)	ZNF862 (P52A)	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 3259817	NM_001099220.3(ZNF862):c.191C>T (p.Pro64Leu)	ZNF862 (P64L)	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 3198884	NM_001099220.3(ZNF862):c.247A>G (p.Lys83Glu)	ZNF862 (K83E)	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 2468351	NM_001099220.3(ZNF862):c.277G>A (p.Val93Met)	ZNF862 (V93M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781916	NM_001099220.3(ZNF862):c.315G>A (p.Pro105=)	ZNF862	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2601462	NM_001099220.3(ZNF862):c.409C>T (p.Arg137Trp)	ZNF862 (R137W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283637	NM_001099220.3(ZNF862):c.410G>A (p.Arg137Gln)	ZNF862 (R137Q)	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 2372929	NM_001099220.3(ZNF862):c.455T>C (p.Met152Thr)	ZNF862 (M152T)	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 3198894	NM_001099220.3(ZNF862):c.518A>G (p.Lys173Arg)	ZNF862 (K173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 207924	NM_001099220.3(ZNF862):c.637T>G (p.Trp213Gly)	ZNF862 (W213G)	Single nucleotide variant (missense variant)	Long QT syndrome	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 2349284	NM_001099220.3(ZNF862):c.653G>A (p.Arg218Gln)	ZNF862 (R218Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3198896	NM_001099220.3(ZNF862):c.726C>G (p.Phe242Leu)	ZNF862 (F242L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2393484	NM_001099220.3(ZNF862):c.778A>T (p.Ser260Cys)	ZNF862 (S260C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285187	NM_001099220.3(ZNF862):c.806G>A (p.Gly269Glu)	ZNF862 (G269E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207019	NM_001099220.3(ZNF862):c.809G>A (p.Gly270Glu)	ZNF862 (G270E)	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 3198897	NM_001099220.3(ZNF862):c.962C>T (p.Ser321Leu)	ZNF862 (S321L)	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 3198898	NM_001099220.3(ZNF862):c.997G>A (p.Val333Met)	ZNF862 (V333M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3198872	NM_001099220.3(ZNF862):c.1042G>A (p.Gly348Ser)	ZNF862 (G348S)	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 3198873	NM_001099220.3(ZNF862):c.1127C>T (p.Ala376Val)	ZNF862 (A376V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269073	NM_001099220.3(ZNF862):c.1141T>G (p.Leu381Val)	ZNF862 (L381V)	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 2390238	NM_001099220.3(ZNF862):c.1168G>A (p.Ala390Thr)	ZNF862 (A390T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2512454	NM_001099220.3(ZNF862):c.1252G>A (p.Ala418Thr)	ZNF862 (A418T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3259818	NM_001099220.3(ZNF862):c.1279T>C (p.Ser427Pro)	ZNF862 (S427P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204386	NM_001099220.3(ZNF862):c.1283C>T (p.Ala428Val)	ZNF862 (A428V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236459	NM_001099220.3(ZNF862):c.1388G>A (p.Arg463His)	ZNF862 (R463H)	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 2466018	NM_001099220.3(ZNF862):c.1429G>A (p.Val477Ile)	ZNF862 (V477I)	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
Select item 2233570	NM_001099220.3(ZNF862):c.1466C>G (p.Ala489Gly)	ZNF862 (A489G)	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 3198877	NM_001099220.3(ZNF862):c.1570G>A (p.Ala524Thr)	ZNF862 (A524T)	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 3198878	NM_001099220.3(ZNF862):c.1645A>G (p.Ser549Gly)	ZNF862 (S549G)	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 2210835	NM_001099220.3(ZNF862):c.1679A>G (p.Asn560Ser)	ZNF862 (N560S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2391093	NM_001099220.3(ZNF862):c.1781G>A (p.Arg594His)	ZNF862 (R594H)	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 2263641	NM_001099220.3(ZNF862):c.1867T>C (p.Cys623Arg)	ZNF862 (C623R)	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 3259814	NM_001099220.3(ZNF862):c.1897G>C (p.Asp633His)	ZNF862 (D633H)	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 2619722	NM_001099220.3(ZNF862):c.1913C>A (p.Ala638Asp)	ZNF862 (A638D)	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 3259819	NM_001099220.3(ZNF862):c.1933C>A (p.Arg645Ser)	ZNF862 (R645S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2658156	NM_001099220.3(ZNF862):c.1986C>G (p.Leu662=)	ZNF862	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3198882	NM_001099220.3(ZNF862):c.2056C>T (p.Arg686Trp)	ZNF862 (R686W)	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

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