53894[HGNC] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 3341602	NM_001365103.2(ERFL):c.866G>A (p.Arg289His)	ARHGEF1, ERFL (R289H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3341626	NM_001365103.2(ERFL):c.665G>A (p.Arg222His)	ARHGEF1, ERFL (R222H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

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