ClinVar for Gene (Select 55906) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376881	NM_018684.4(ZC4H2):c.398+1_398+3del	ZC4H2	Deletion (splice donor variant)	Wieacker-Wolff syndrome, female-restricted	GLikely pathogenic
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3365644	NM_018684.4(ZC4H2):c.526A>G (p.Thr176Ala)	ZC4H2 (T153A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3365434	NM_018684.4(ZC4H2):c.215A>C (p.Asp72Ala)	ZC4H2 (D49A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365433	NM_018684.4(ZC4H2):c.206T>C (p.Ile69Thr)	ZC4H2 (I46T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361688	NM_018684.4(ZC4H2):c.307C>A (p.Pro103Thr)	ZC4H2 (P103T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342864	NM_018684.4(ZC4H2):c.487C>T (p.Gln163Ter)	ZC4H2 (Q140* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 3340477	NM_018684.4(ZC4H2):c.208C>T (p.His70Tyr)	ZC4H2 (H47Y +1 more)	Single nucleotide variant (missense variant +1 more)	Wieacker-Wolff syndrome	GLikely pathogenic
Select item 3336135	NC_000023.10:g.(?_64135686)_(64141869_64196204)dup	ZC4H2	Duplication	not specified	GUncertain significance
Select item 3251016	NM_018684.4(ZC4H2):c.356G>A (p.Arg119Lys)	ZC4H2 (R119K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3246916	NC_000023.10:g.(?_63409759)_(71933728_?)dup	AMER1, AR +55 more	Duplication	not provided	GUncertain significance
Select item 3246818	NC_000023.10:g.(?_64137663)_(64141888_?)dup	ZC4H2	Duplication	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3236147	NM_018684.4(ZC4H2):c.290T>C (p.Leu97Pro)	ZC4H2 (L74P +1 more)	Single nucleotide variant (missense variant +1 more)	Wieacker-Wolff syndrome	GUncertain significance
Select item 3192476	NM_018684.4(ZC4H2):c.653C>T (p.Pro218Leu)	ZC4H2 (P218L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3192475	NM_018684.4(ZC4H2):c.362del (p.Pro121fs)	ZC4H2 (P121fs +1 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 3062545	GRCh37/hg19 Xq11.2(chrX:63730407-64219733)	ZC4H2	Copy number gain	not specified	GUncertain significance
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 2999345	NM_018684.4(ZC4H2):c.561+19G>C	ZC4H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2992607	NM_018684.4(ZC4H2):c.225+11G>T	ZC4H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2990955	NM_018684.4(ZC4H2):c.54-4G>T	ZC4H2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2920551	NM_018684.4(ZC4H2):c.53+16T>C	ZC4H2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916332	NM_018684.4(ZC4H2):c.109G>A (p.Ala37Thr)	ZC4H2 (A37T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2915631	NM_018684.4(ZC4H2):c.499G>C (p.Val167Leu)	ZC4H2 (V144L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2878295	NM_018684.4(ZC4H2):c.53+18C>A	ZC4H2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853868	NM_018684.4(ZC4H2):c.187G>A (p.Val63Met)	ZC4H2 (V40M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2837418	NM_018684.4(ZC4H2):c.615T>C (p.Leu205=)	ZC4H2 (F151S)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2835733	NM_018684.4(ZC4H2):c.550C>T (p.Pro184Ser)	ZC4H2 (P184S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2780737	NM_018684.4(ZC4H2):c.334C>T (p.Arg112Cys)	ZC4H2 (R89C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2777651	NM_018684.4(ZC4H2):c.225+16G>T	ZC4H2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759815	NM_018684.4(ZC4H2):c.57C>G (p.Asn19Lys)	ZC4H2 (N19K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2750416	NM_018684.4(ZC4H2):c.261A>G (p.Leu87=)	ZC4H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2684988	GRCh37/hg19 Xq11.2(chrX:63488590-64390674)x3	MTMR8, ZC4H2	Copy number gain	not provided	GUncertain significance
Select item 2671709	NM_018684.4(ZC4H2):c.406G>A (p.Glu136Lys)	ZC4H2 (E113K +1 more)	Single nucleotide variant (missense variant +2 more)	Wieacker-Wolff syndrome, female-restricted	GUncertain significance
Select item 2663731	NM_018684.4(ZC4H2):c.88C>T (p.Arg30Cys)	ZC4H2 (R30C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2660754	NM_018684.4(ZC4H2):c.151G>C (p.Glu51Gln)	ZC4H2 (E28Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2660753	NM_018684.4(ZC4H2):c.279T>C (p.Ser93=)	ZC4H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2637564	NM_018684.4(ZC4H2):c.470C>T (p.Ala157Val)	ZC4H2 (A134V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2585507	NM_018684.4(ZC4H2):c.218_220del (p.Ile73del)	ZC4H2 (I50del +1 more)	Deletion (inframe_deletion +1 more)	Wieacker-Wolff syndrome, female-restricted	GUncertain significance
Select item 2584832	NM_018684.4(ZC4H2):c.269T>C (p.Leu90Pro)	ZC4H2 (L67P +1 more)	Single nucleotide variant (missense variant +1 more)	Wieacker-Wolff syndrome, female-restricted	GUncertain significance
Select item 2582376	NM_018684.4(ZC4H2):c.388del (p.Leu130fs)	ZC4H2 (L107fs +1 more)	Deletion (frameshift variant +1 more)	Wieacker-Wolff syndrome, female-restricted	GPathogenic
Select item 2581749	NM_018684.4(ZC4H2):c.298G>A (p.Glu100Lys)	ZC4H2 (E100K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576658	NM_018684.4(ZC4H2):c.27C>G (p.Cys9Trp)	ZC4H2 (C9W)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 2572536	NM_018684.4(ZC4H2):c.142T>A (p.Tyr48Asn)	ZC4H2 (Y25N +1 more)	Single nucleotide variant (missense variant +1 more)	Wieacker-Wolff syndrome	GUncertain significance
Select item 2571669	NM_018684.4(ZC4H2):c.92T>C (p.Leu31Ser)	ZC4H2 (L31S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2559343	NM_018684.4(ZC4H2):c.316G>A (p.Glu106Lys)	ZC4H2 (E83K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2507218	NM_018684.4(ZC4H2):c.419C>A (p.Ala140Glu)	ZC4H2 (A117E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2504994	NM_018684.4(ZC4H2):c.218T>C (p.Ile73Thr)	ZC4H2 (I50T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2500935	NM_018684.4(ZC4H2):c.551del (p.Pro184fs)	ZC4H2 (P161fs +1 more)	Deletion (frameshift variant +2 more)	Wieacker-Wolff syndrome	GUncertain significance
Select item 2500616	NM_018684.4(ZC4H2):c.67C>A (p.Gln23Lys)	ZC4H2 (Q23K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2446256	NM_018684.4(ZC4H2):c.454C>G (p.Pro152Ala)	ZC4H2 (P129A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2446014	NM_018684.4(ZC4H2):c.561+1G>A	ZC4H2	Single nucleotide variant (splice donor variant +1 more)	See cases	GLikely pathogenic
Select item 2438644	NM_018684.4(ZC4H2):c.591C>A (p.His197Gln)	ZC4H2 (H174Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438643	NM_018684.4(ZC4H2):c.613C>G (p.Leu205Val)	ZC4H2 (L182V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2438642	NM_018684.4(ZC4H2):c.658C>T (p.Arg220Trp)	ZC4H2 (R197W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2431957	NM_018684.4(ZC4H2):c.290_292del (p.Leu97del)	ZC4H2 (L74del +1 more)	Deletion (inframe_deletion +1 more)	Wieacker-Wolff syndrome, female-restricted	GUncertain significance
Select item 2426481	NC_000023.10:g.(?_64196185)_(64196257_?)del	ZC4H2	Deletion	not provided	GPathogenic
Select item 2426092	NC_000023.10:g.(?_62857908)_(64196257_?)dup	AMER1, ARHGEF9 +3 more	Duplication	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2412774	NM_018684.4(ZC4H2):c.3G>A (p.Met1Ile)	ZC4H2 (M1I)	Single nucleotide variant (missense variant +3 more)	Wieacker-Wolff syndrome (spectrum)	GUncertain significance
Select item 2305679	NM_018684.4(ZC4H2):c.366C>A (p.Asp122Glu)	ZC4H2 (D122E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246239	NM_018684.4(ZC4H2):c.331C>A (p.Leu111Met)	ZC4H2 (L111M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2182512	NM_018684.4(ZC4H2):c.398+12G>A	ZC4H2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2094342	NM_018684.4(ZC4H2):c.393C>T (p.Ser131=)	ZC4H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2088343	NM_018684.4(ZC4H2):c.160C>T (p.Leu54Phe)	ZC4H2 (L31F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2049625	NM_018684.4(ZC4H2):c.111A>C (p.Ala37=)	ZC4H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2017807	NM_018684.4(ZC4H2):c.90T>A (p.Arg30=)	ZC4H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2009301	NM_018684.4(ZC4H2):c.226-8T>A	ZC4H2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2005072	NM_018684.4(ZC4H2):c.561G>A (p.Lys187=)	ZC4H2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely pathogenic
Select item 1979307	NM_018684.4(ZC4H2):c.9T>C (p.Asp3=)	ZC4H2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1946753	NM_018684.4(ZC4H2):c.276G>A (p.Glu92=)	ZC4H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1943153	NM_018684.4(ZC4H2):c.123G>A (p.Glu41=)	ZC4H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1934610	NM_018684.4(ZC4H2):c.561+17A>G	ZC4H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1921182	NM_018684.4(ZC4H2):c.399-15C>T	ZC4H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1898575	NM_018684.4(ZC4H2):c.54-16T>G	ZC4H2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1896035	NM_018684.4(ZC4H2):c.129G>A (p.Arg43=)	ZC4H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1804896	NM_018684.4(ZC4H2):c.177G>T (p.Lys59Asn)	ZC4H2 (K36N +1 more)	Single nucleotide variant (missense variant +1 more)	Wieacker-Wolff syndrome	GUncertain significance
Select item 1804075	NM_018684.4(ZC4H2):c.172G>T (p.Glu58Ter)	ZC4H2 (E35* +1 more)	Single nucleotide variant (nonsense +1 more)	Wieacker-Wolff syndrome, female-restricted	GPathogenic
Select item 1800773	NM_018684.4(ZC4H2):c.532A>G (p.Thr178Ala)	ZC4H2 (T155A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1786059	NM_018684.4(ZC4H2):c.210C>T (p.His70=)	ZC4H2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1785046	NM_018684.4(ZC4H2):c.204G>T (p.Leu68=)	ZC4H2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1773948	NM_018684.4(ZC4H2):c.149A>T (p.Gln50Leu)	ZC4H2 (Q27L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1744893	NM_018684.4(ZC4H2):c.502G>A (p.Ala168Thr)	ZC4H2 (A145T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1742947	NM_018684.4(ZC4H2):c.476C>T (p.Ala159Val)	ZC4H2 (A136V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1735253	NM_018684.4(ZC4H2):c.381G>A (p.Glu127=)	ZC4H2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1723185	NM_018684.4(ZC4H2):c.566G>C (p.Cys189Ser)	ZC4H2 (A135P +2 more)	Single nucleotide variant (missense variant +1 more)	Wieacker-Wolff syndrome, female-restricted	GLikely pathogenic
Select item 1720836	NM_018684.4(ZC4H2):c.211G>A (p.Ala71Thr)	ZC4H2 (A48T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1720682	NM_018684.4(ZC4H2):c.200G>T (p.Arg67Leu)	ZC4H2 (R44L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703983	NM_018684.4(ZC4H2):c.246A>T (p.Gln82His)	ZC4H2 (Q59H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1698980	NM_018684.4(ZC4H2):c.406G>C (p.Glu136Gln)	ZC4H2 (E113Q +1 more)	Single nucleotide variant (missense variant +2 more)	Wieacker-Wolff syndrome	GUncertain significance
Select item 1698141	NM_018684.4(ZC4H2):c.2T>C (p.Met1Thr)	ZC4H2 (M1T)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 1691760	NM_018684.4(ZC4H2):c.638G>A (p.Arg213Gln)	ZC4H2 (G159R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1691750	NM_018684.4(ZC4H2):c.450del (p.Ile151fs)	ZC4H2 (I128fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1684143	NM_018684.4(ZC4H2):c.88C>G (p.Arg30Gly)	ZC4H2 (R30G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1676835	NM_018684.4(ZC4H2):c.527C>T (p.Thr176Met)	ZC4H2 (T153M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance

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