"GeneDx"[submitter] AND "ATG9B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 403251	NM_000603.5(NOS3):c.3106+11G>T	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign
Select item 1221942	NM_000603.5(NOS3):c.3255+161A>C	ATG9B, NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279688	NM_000603.5(NOS3):c.3256-12G>A	ATG9B, NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 403252	NM_000603.5(NOS3):c.3351T>C (p.Val1117=)	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign

ClinVar