ClinVar for MedGen (Select 989503) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2637938	NM_018297.4(NGLY1):c.857G>A (p.Cys286Tyr)	NGLY1 (C244Y +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation 1	GLikely pathogenic
Select item 2637937	NM_018297.4(NGLY1):c.-17_12del (p.Met1fs)	LOC129936379, NGLY1 (M1fs)	Deletion (frameshift variant +2 more)	Congenital disorder of deglycosylation 1	GLikely pathogenic
Select item 2579214	GRCh38/hg38 3p24.2(chr3:25699606-25738988)x0	NGLY1	Copy number loss	Congenital disorder of deglycosylation 1	GPathogenic
Select item 2577880	NM_018297.4(NGLY1):c.1124_1125del (p.Tyr375fs)	NGLY1 (Y333fs +1 more)	Deletion (frameshift variant +1 more)	Congenital disorder of deglycosylation 1	GLikely pathogenic
Select item 2434351	NM_018297.4(NGLY1):c.1931G>A (p.Cys644Tyr)	NGLY1 (C602Y +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation 1	GUncertain significance
Select item 2434350	NM_018297.4(NGLY1):c.1315G>T (p.Val439Leu)	NGLY1 (V397L +2 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation 1	GUncertain significance
Select item 2287190	NM_018297.4(NGLY1):c.1756C>T (p.Arg586Ter)	NGLY1 (R544* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital disorder of deglycosylation +2 more	GPathogenic
Select item 1705659	NM_018297.4(NGLY1):c.490dup (p.Thr164fs)	NGLY1 (T122fs +1 more)	Duplication (frameshift variant)	Congenital disorder of deglycosylation 1	GLikely pathogenic
Select item 1705520	NM_018297.4(NGLY1):c.1168C>G (p.Arg390Gly)	NGLY1 (R348G +2 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation 1	GUncertain significance
Select item 1505975	NM_018297.4(NGLY1):c.-18_14dup (p.Leu6fs)	NGLY1 (L6fs)	Duplication (frameshift variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
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 more	GPathogenic/Likely pathogenic
Select item 1149251	NM_018297.4(NGLY1):c.801T>C (p.Ser267=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation 1 +1 more	GLikely benign
Select item 1039922	NM_018297.4(NGLY1):c.354G>C (p.Lys118Asn)	NGLY1 (K76N +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation +2 more	GUncertain significance
Select item 1014230	NM_018297.4(NGLY1):c.889A>T (p.Asn297Tyr)	NGLY1 (N255Y +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation +2 more	GUncertain significance
Select item 984581	NM_018297.4(NGLY1):c.982C>T (p.Arg328Cys)	NGLY1 (R286C +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation 1	GLikely pathogenic
Select item 807450	NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys)	NGLY1 (Y300C +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation 1 +2 more	GPathogenic
Select item 647531	NM_018297.4(NGLY1):c.1231C>T (p.Arg411Ter)	NGLY1 (R411* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic
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 474211	NM_018297.4(NGLY1):c.1469C>T (p.Ser490Phe)	NGLY1 (S448F +2 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation +1 more	GUncertain significance
Select item 424175	NM_018297.4(NGLY1):c.978_980del (p.Glu326_Ala327delinsAsp)	NGLY1	Deletion (inframe_indel)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 50962	NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)	NGLY1 (R401* +2 more)	Single nucleotide variant (nonsense)	Congenital disorder of deglycosylation 1 +2 more	GPathogenic/Likely pathogenic
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

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Items: 22