ClinVar for MedGen (Select 163227) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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
Select item 1334010	NM_018684.4(ZC4H2):c.174_178del (p.Glu58fs)	ZC4H2 (E35fs +1 more)	Deletion (frameshift variant +1 more)	Wieacker-Wolff syndrome	GLikely pathogenic
Select item 986368	NM_018684.4(ZC4H2):c.535_538dup (p.Arg180fs)	ZC4H2 (R157fs +1 more)	Duplication (frameshift variant +2 more)	Wieacker-Wolff syndrome	GLikely pathogenic
Select item 982608	NM_018684.4(ZC4H2):c.561+7G>A	ZC4H2	Single nucleotide variant (intron variant)	Wieacker-Wolff syndrome	GUncertain significance
Select item 977759	NM_018684.4(ZC4H2):c.53+10513C>T	ZC4H2	Single nucleotide variant (intron variant)	Wieacker-Wolff syndrome	GLikely pathogenic
Select item 977161	NM_018684.4(ZC4H2):c.243_246del (p.Lys81fs)	ZC4H2 (K58fs +1 more)	Deletion (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
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 834097	NM_018684.4(ZC4H2):c.650A>G (p.Lys217Arg)	ZC4H2 (K217R +2 more)	Single nucleotide variant (missense variant +1 more)	Wieacker-Wolff syndrome	GPathogenic
Select item 689619	NM_018684.4(ZC4H2):c.412C>T (p.Gln138Ter)	ZC4H2 (Q115* +1 more)	Single nucleotide variant (nonsense +2 more)	Wieacker-Wolff syndrome +1 more	GPathogenic
Select item 598761	Single allele	ZC4H2	Deletion	Wieacker-Wolff syndrome	GPathogenic
Select item 587852	NM_018684.4(ZC4H2):c.432A>G (p.Thr144=)	ZC4H2	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign
Select item 585201	NM_018684.4(ZC4H2):c.54-1G>A	ZC4H2	Single nucleotide variant (5 prime UTR variant +2 more)	Wieacker-Wolff syndrome	Gnot provided
Select item 548020	NM_018684.4(ZC4H2):c.427C>T (p.Gln143Ter)	ZC4H2 (Q143* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 522752	NM_018684.4(ZC4H2):c.375AGA[1] (p.Glu128del)	ZC4H2 (E105del +1 more)	Microsatellite (inframe_deletion +1 more)	Wieacker-Wolff syndrome	GLikely pathogenic
Select item 488641	NM_018684.4(ZC4H2):c.22_23del (p.Met8fs)	ZC4H2 (M8fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 451159	NM_018684.4(ZC4H2):c.631C>T (p.Arg211Trp)	ZC4H2 (R211W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely pathogenic
Select item 432364	NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp)	ZC4H2 (R198W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 429826	NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter)	ZC4H2 (R67* +1 more)	Single nucleotide variant (nonsense +1 more)	Wieacker-Wolff syndrome, female-restricted +3 more	GPathogenic/Likely pathogenic
Select item 378045	NM_018684.4(ZC4H2):c.53G>A (p.Arg18Lys)	ZC4H2 (R18K)	Single nucleotide variant (missense variant +2 more)	Wieacker-Wolff syndrome	GPathogenic
Select item 378044	NM_018684.4(ZC4H2):c.225+5G>A	ZC4H2	Single nucleotide variant (intron variant)	ZC4H2-related X-linked intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 378042	NM_018684.4(ZC4H2):c.197T>A (p.Leu66His)	ZC4H2 (L66H +1 more)	Single nucleotide variant (missense variant +1 more)	Wieacker-Wolff syndrome	GPathogenic
Select item 50983	NM_018684.4(ZC4H2):c.637C>T (p.Arg213Trp)	ZC4H2 (R213W +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 50982	NM_018684.4(ZC4H2):c.601C>T (p.Pro201Ser)	ZC4H2 (P201S +1 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 50981	NM_018684.4(ZC4H2):c.593G>A (p.Arg198Gln)	ZC4H2 (R198Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 50980	NM_018684.4(ZC4H2):c.187G>C (p.Val63Leu)	ZC4H2 (V63L +1 more)	Single nucleotide variant (missense variant +1 more)	Wieacker-Wolff syndrome	GPathogenic

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Items: 34