"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ATG9B"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2658170	NM_000603.5(NOS3):c.3261C>T (p.Tyr1087=)	ATG9B, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709432	NM_000603.5(NOS3):c.3324G>C (p.Arg1108=)	NOS3, ATG9B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 2658171	NM_000603.5(NOS3):c.*6G>A	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2658172	NM_001317056.2(ATG9B):c.1329C>T (p.Ala443=)	ATG9B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658173	NM_001317056.2(ATG9B):c.1048C>A (p.Arg350=)	ATG9B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658174	NM_001317056.2(ATG9B):c.1047G>A (p.Pro349=)	ATG9B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	KRBA1, LLCFC1 +125 more	Copy number loss	not provided	GPathogenic

ClinVar