"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harva - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982608	NM_018684.4(ZC4H2):c.561+7G>A	ZC4H2	Single nucleotide variant (intron variant)	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 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 977161	NM_018684.4(ZC4H2):c.243_246del (p.Lys81fs)	ZC4H2 (K58fs +1 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
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 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

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