Related gene-specific medical variations for Gene (Select 55906) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062545	GRCh37/hg19 Xq11.2(chrX:63730407-64219733)	ZC4H2	Copy number gain	not specified	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 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 1341076	GRCh37/hg19 Xq11.2(chrX:63730407-64219733)x3	ZC4H2	Copy number gain	not provided	GUncertain significance
Select item 1340442	GRCh37/hg19 Xq11.2(chrX:63938973-64276992)x2	ZC4H2	Copy number gain	not provided	GLikely benign
Select item 1325367	NM_018684.4(ZC4H2):c.425G>A (p.Trp142Ter)	ZC4H2 (W119* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 931012	NM_018684.4(ZC4H2):c.170A>C (p.Gln57Pro)	ZC4H2 (Q34P +1 more)	Single nucleotide variant (missense variant +1 more)	Wieacker-Wolff syndrome	GUncertain significance
Select item 930963	NM_018684.4(ZC4H2):c.598G>A (p.Ala200Thr)	ZC4H2 (A177T +2 more)	Single nucleotide variant (missense variant +1 more)	Wieacker-Wolff syndrome	GPathogenic
Select item 930316	NM_018684.4(ZC4H2):c.561G>T (p.Lys187Asn)	ZC4H2 (K164N +1 more)	Single nucleotide variant (missense variant +2 more)	Wieacker-Wolff syndrome	GUncertain significance
Select item 930303	NM_018684.4(ZC4H2):c.576del (p.His193fs)	ZC4H2 (H193fs +2 more)	Deletion (frameshift variant +1 more)	Wieacker-Wolff syndrome	GPathogenic
Select item 686573	GRCh37/hg19 Xq11.2-12(chrX:64100323-64651654)x2	ZC4H2	Copy number gain	not provided	GUncertain significance
Select item 442154	GRCh37/hg19 Xq11.2(chrX:64203981-64499114)x2	ZC4H2	Copy number gain	See cases	GUncertain significance
Select item 253971	GRCh37/hg19 Xq11.2(chrX:64139334-64589683)x3	ZC4H2	Copy number gain	See cases	GUncertain significance