ClinVar for MedGen (Select 989503) - ClinVar - NCBI

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Items: 18

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25792141.	GRCh38/hg38 3p24.2(chr3:25699606-25738988)x0 GRCh38: Chr3:25699606-25738988	NGLY1		Congenital disorder of deglycosylation 1	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25778802.	NM_018297.4(NGLY1):c.1124_1125del (p.Tyr375fs) GRCh37: Chr3:25777519-25777520 GRCh38: Chr3:25736028-25736029	NGLY1	Y333fs, Y375fs	Congenital disorder of deglycosylation 1	Likely pathogenic (Aug 31, 2023)	criteria provided, single submitter
Select item 24343513.	NM_018297.4(NGLY1):c.1931G>A (p.Cys644Tyr) GRCh37: Chr3:25760985 GRCh38: Chr3:25719494	NGLY1	C602Y, C626Y, C644Y	Congenital disorder of deglycosylation 1	Uncertain significance (Mar 2, 2021)	criteria provided, single submitter
Select item 24343504.	NM_018297.4(NGLY1):c.1315G>T (p.Val439Leu) GRCh37: Chr3:25773920 GRCh38: Chr3:25732429	NGLY1	V397L, V421L, V439L	Congenital disorder of deglycosylation 1	Uncertain significance (May 16, 2019)	criteria provided, single submitter
Select item 17056595.	NM_018297.4(NGLY1):c.490dup (p.Thr164fs) GRCh37: Chr3:25805558-25805559 GRCh38: Chr3:25764067-25764068	NGLY1	T122fs, T164fs	Congenital disorder of deglycosylation 1	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 17055206.	NM_018297.4(NGLY1):c.1168C>G (p.Arg390Gly) GRCh37: Chr3:25775455 GRCh38: Chr3:25733964	NGLY1	R348G, R372G, R390G	Congenital disorder of deglycosylation 1	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 15059757.	NM_018297.4(NGLY1):c.-18_14dup (p.Leu6fs) GRCh37: Chr3:25824867-25824868 GRCh38: Chr3:25783376-25783377	NGLY1	L6fs	Congenital disorder of deglycosylation 1, Inborn genetic diseases, Congenital disorder of deglycosylation	Uncertain significance (Mar 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13248098.	NM_018297.4(NGLY1):c.1764_1785del (p.Asp588fs) GRCh37: Chr3:25761509-25761530 GRCh38: Chr3:25720018-25720039	NGLY1	D546fs, D570fs, D588fs	Congenital disorder of deglycosylation 1	Likely pathogenic (May 14, 2021)	criteria provided, single submitter
Select item 11492519.	NM_018297.4(NGLY1):c.801T>C (p.Ser267=) GRCh37: Chr3:25781148 GRCh38: Chr3:25739657	NGLY1		Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1	Likely benign (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103992210.	NM_018297.4(NGLY1):c.354G>C (p.Lys118Asn) GRCh37: Chr3:25805695 GRCh38: Chr3:25764204	NGLY1	K76N, K118N	Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1, not provided	Uncertain significance (Aug 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 101423011.	NM_018297.4(NGLY1):c.889A>T (p.Asn297Tyr) GRCh37: Chr3:25778939 GRCh38: Chr3:25737448	NGLY1	N255Y, N297Y	Inborn genetic diseases, Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation	Uncertain significance (Nov 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98458112.	NM_018297.4(NGLY1):c.982C>T (p.Arg328Cys) GRCh37: Chr3:25778846 GRCh38: Chr3:25737355	NGLY1	R286C, R328C	Congenital disorder of deglycosylation 1	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 80745013.	NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys) GRCh37: Chr3:25777619 GRCh38: Chr3:25736128	NGLY1	Y300C, Y342C	not provided, Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation	Pathogenic (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54865814.	NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) GRCh37: Chr3:25770699-25770702 GRCh38: Chr3:25729208-25729211	NGLY1	N469fs, N493fs, N511fs	Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation, not provided	Pathogenic (Mar 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 47421115.	NM_018297.4(NGLY1):c.1469C>T (p.Ser490Phe) GRCh37: Chr3:25770766 GRCh38: Chr3:25729275	NGLY1	S448F, S490F, S472F	Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42417516.	NM_018297.4(NGLY1):c.978_980del (p.Glu326_Ala327delinsAsp) GRCh37: Chr3:25778848-25778850 GRCh38: Chr3:25737357-25737359	NGLY1		not provided, Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation	Conflicting interpretations of pathogenicity (Apr 9, 2022)	criteria provided, conflicting interpretations
Select item 5096217.	NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) GRCh37: Chr3:25775422 GRCh38: Chr3:25733931	NGLY1	R401, R359, R383*	Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation, not provided	Pathogenic/Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 5096118.	NM_018297.4(NGLY1):c.1891del (p.Gln631fs) GRCh37: Chr3:25761025 GRCh38: Chr3:25719534	NGLY1	Q589fs, Q613fs, Q631fs	Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation, not provided	Pathogenic/Likely pathogenic (Nov 25, 2022)	criteria provided, multiple submitters, no conflicts