LOC130058848[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
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 2593035	NM_145271.4(ZNF688):c.140A>C (p.Gln47Pro)	LOC130058848, ZNF688 (Q47P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222831	NM_145271.4(ZNF688):c.59G>T (p.Cys20Phe)	LOC130058848, ZNF688 (C20F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370900	NM_145271.4(ZNF688):c.43G>A (p.Glu15Lys)	LOC130058848, ZNF688 (E15K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405509	NM_145271.4(ZNF688):c.26T>G (p.Leu9Arg)	LOC130058848, ZNF688 (L9R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366182	NM_145271.4(ZNF688):c.14C>G (p.Pro5Arg)	LOC130058848, ZNF688 (P5R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance