"GeneDx"[submitter] AND "LOC126860125"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 1192403	NM_001283.5(AP1S1):c.182+78T>C	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1267114	NM_001283.5(AP1S1):c.182+252C>T	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273930	NM_001283.5(AP1S1):c.183-23G>A	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 620377	NM_001283.5(AP1S1):c.186T>G (p.Tyr62Ter)	LOC126860125, AP1S1 (Y62*)	Single nucleotide variant (nonsense)	MEDNIK syndrome +1 more	GPathogenic/Likely pathogenic

ClinVar