ClinVar for Gene (Select 130058849) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259555	NM_152458.7(ZNF785):c.20C>A (p.Pro7Gln)	LOC130058849, ZNF785 (P7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483593	NM_152458.7(ZNF785):c.26C>A (p.Pro9Gln)	LOC130058849, ZNF785 (P9Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405226	NM_152458.7(ZNF785):c.107T>C (p.Val36Ala)	LOC130058849, ZNF785 (V36A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321562	NM_152458.7(ZNF785):c.8C>A (p.Pro3Gln)	LOC130058849, ZNF785 (P3Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146284	GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1	ALDOA, ASPHD1 +180 more	Copy number loss	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic

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