"Baylor Genetics"[submitter] AND "NGLY1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1324809	NM_018297.4(NGLY1):c.1764_1785del (p.Asp588fs)	NGLY1 (D546fs +2 more)	Deletion (frameshift variant +1 more)	Congenital disorder of deglycosylation 1 +1 more	GPathogenic/Likely pathogenic
Select item 1032034	NM_018297.4(NGLY1):c.1525A>G (p.Asn509Asp)	NGLY1 (N509D +2 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation	GUncertain significance
Select item 126422	NM_018297.4(NGLY1):c.1370dup (p.Arg458fs)	NGLY1 (R440fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 50962	NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)	NGLY1 (R401* +2 more)	Single nucleotide variant (nonsense)	Congenital disorder of deglycosylation +2 more	GPathogenic/Likely pathogenic
Select item 1030644	NM_018297.4(NGLY1):c.776C>G (p.Ser259Cys)	NGLY1 (S259C +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation	GUncertain significance
Select item 951031	NM_018297.4(NGLY1):c.485C>T (p.Ala162Val)	NGLY1 (A120V +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation +1 more	GUncertain significance

ClinVar