"Eurofins Ntd Llc (ga)"[submitter] AND "NGLY1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 50961	NM_018297.4(NGLY1):c.1891del (p.Gln631fs)	NGLY1 (Q589fs +2 more)	Deletion (frameshift variant +1 more)	Congenital disorder of deglycosylation 1 +2 more	GPathogenic
Select item 541260	NM_018297.4(NGLY1):c.1637C>T (p.Ser546Leu)	NGLY1 (S546L +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation +1 more	GUncertain significance
Select item 548658	NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs)	NGLY1 (N469fs +2 more)	Deletion (frameshift variant)	Congenital disorder of deglycosylation 1 +2 more	GPathogenic
Select item 198889	NM_018297.4(NGLY1):c.1260+7T>G	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation +1 more	GBenign
Select item 197318	NM_018297.4(NGLY1):c.493-9del	NGLY1	Deletion (intron variant)	Congenital disorder of deglycosylation +1 more	GBenign
Select item 195339	NM_018297.4(NGLY1):c.132-14T>C	NGLY1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 193394	NM_018297.4(NGLY1):c.-8G>A	LOC129936379, NGLY1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign

ClinVar