"GeneDx"[submitter] AND "NGLY1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1311473	NM_018297.4(NGLY1):c.1956T>A (p.Ser652Arg)	NGLY1 (S610R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 960047	NM_018297.4(NGLY1):c.1954A>G (p.Ser652Gly)	NGLY1 (S634G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 474221	NM_018297.4(NGLY1):c.1918C>T (p.His640Tyr)	NGLY1 (H598Y +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation +1 more	GConflicting classifications of pathogenicity
Select item 474220	NM_018297.4(NGLY1):c.1913A>G (p.Asn638Ser)	NGLY1 (N596S +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation +2 more	GUncertain significance
Select item 453046	NM_018297.4(NGLY1):c.1913del (p.Asn638fs)	NGLY1 (N596fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 221582	NM_018297.4(NGLY1):c.1910del (p.Ser636_Leu637insTer)	NGLY1	Deletion (nonsense +1 more)	not provided	GLikely 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 +2 more	GPathogenic
Select item 650805	NM_018297.4(NGLY1):c.1868_1870del (p.Gly623del)	NGLY1 (G581del +2 more)	Deletion (inframe_deletion +1 more)	not provided +1 more	GUncertain significance
Select item 385013	NM_018297.4(NGLY1):c.1869T>C (p.Gly623=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation +1 more	GBenign
Select item 1111974	NM_018297.4(NGLY1):c.1857C>T (p.Ser619=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation +1 more	GLikely benign
Select item 817413	NM_018297.4(NGLY1):c.1819dup (p.Ser607fs)	NGLY1 (S565fs +3 more)	Duplication (frameshift variant)	Congenital disorder of deglycosylation +1 more	GPathogenic/Likely pathogenic
Select item 1439691	NM_018297.4(NGLY1):c.1804T>C (p.Ser602Pro)	NGLY1 (S560P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 571065	NM_018297.4(NGLY1):c.1795A>G (p.Ser599Gly)	NGLY1 (S557G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1191276	NM_018297.4(NGLY1):c.1790-80A>G	NGLY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207671	NM_018297.4(NGLY1):c.1789+174T>C	NGLY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294411	NM_018297.4(NGLY1):c.1789+119dup	NGLY1	Duplication (intron variant)	not provided	GBenign
Select item 681959	NM_018297.4(NGLY1):c.1789+17A>C	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation +1 more	GLikely benign
Select item 489203	NM_018297.4(NGLY1):c.1789+5G>A	NGLY1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 504346	NM_018297.4(NGLY1):c.1789+1G>T	NGLY1	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 381455	NM_018297.4(NGLY1):c.1722A>G (p.Gln574=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation +1 more	GBenign/Likely benign
Select item 126424	NM_018297.4(NGLY1):c.1624C>T (p.Arg542Ter)	NGLY1 (R500* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1291931	NM_018297.4(NGLY1):c.1612-277A>T	NGLY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219468	NM_018297.4(NGLY1):c.1611+297A>G	NGLY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 474215	NM_018297.4(NGLY1):c.1608C>A (p.His536Gln)	NGLY1 (H494Q +2 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation +1 more	GLikely benign
Select item 221577	NM_018297.4(NGLY1):c.1604G>A (p.Trp535Ter)	NGLY1 (W493* +2 more)	Single nucleotide variant (nonsense)	Congenital disorder of deglycosylation +1 more	GPathogenic
Select item 474214	NM_018297.4(NGLY1):c.1579A>G (p.Ile527Val)	NGLY1 (I527V +2 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation +1 more	GLikely benign
Select item 503857	NM_018297.4(NGLY1):c.1570dup (p.Met524fs)	NGLY1 (M482fs +2 more)	Duplication (frameshift variant)	Congenital disorder of deglycosylation +1 more	GPathogenic
Select item 474213	NM_018297.4(NGLY1):c.1560C>T (p.Gly520=)	NGLY1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 541259	NM_018297.4(NGLY1):c.1508G>A (p.Arg503His)	NGLY1 (R503H +2 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation +1 more	GLikely benign
Select item 666353	NM_018297.4(NGLY1):c.1481_1488del (p.His494fs)	NGLY1 (H494fs +2 more)	Deletion (frameshift variant)	Congenital disorder of deglycosylation +1 more	GPathogenic/Likely pathogenic
Select item 474212	NM_018297.4(NGLY1):c.1470T>G (p.Ser490=)	NGLY1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 767376	NM_018297.4(NGLY1):c.1451G>C (p.Cys484Ser)	NGLY1 (C466S +2 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation +2 more	GBenign/Likely benign
Select item 767377	NM_018297.4(NGLY1):c.1436C>T (p.Thr479Ile)	NGLY1 (T479I +2 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation +2 more	GBenign/Likely benign
Select item 1293952	NM_018297.4(NGLY1):c.1425+213A>C	NGLY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179351	NM_018297.4(NGLY1):c.1425+50T>C	NGLY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2763919	NM_018297.4(NGLY1):c.1406G>A (p.Arg469Gln)	NGLY1 (R427Q +2 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation +1 more	GUncertain significance
Select item 488990	NM_018297.4(NGLY1):c.1405C>T (p.Arg469Ter)	NGLY1 (R427* +2 more)	Single nucleotide variant (nonsense)	Congenital disorder of deglycosylation +2 more	GPathogenic
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 541257	NM_018297.4(NGLY1):c.1333A>C (p.Ile445Leu)	NGLY1 (I445L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 474209	NM_018297.4(NGLY1):c.1300C>G (p.Leu434Val)	NGLY1 (L392V +2 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation +1 more	GUncertain significance
Select item 852528	NM_018297.4(NGLY1):c.1289G>A (p.Arg430Lys)	NGLY1 (R388K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 382085	NM_018297.4(NGLY1):c.1261-11A>G	NGLY1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1209381	NM_018297.4(NGLY1):c.1261-48A>G	NGLY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262557	NM_018297.4(NGLY1):c.1260+240T>A	NGLY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294412	NM_018297.4(NGLY1):c.1260+110A>G	NGLY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 198889	NM_018297.4(NGLY1):c.1260+7T>G	NGLY1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 817637	NM_018297.4(NGLY1):c.1242del (p.Asn415fs)	NGLY1 (N373fs +2 more)	Deletion (frameshift variant)	Congenital disorder of deglycosylation +2 more	GPathogenic
Select item 572271	NM_018297.4(NGLY1):c.1235A>T (p.Asp412Val)	NGLY1 (D370V +2 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation +1 more	GUncertain significance
Select item 837016	NM_018297.4(NGLY1):c.1232G>A (p.Arg411Gln)	NGLY1 (R411Q +2 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation +1 more	GUncertain significance
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 647628	NM_018297.4(NGLY1):c.1228C>T (p.Leu410Phe)	NGLY1 (L368F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1254414	NM_018297.4(NGLY1):c.1214T>C (p.Val405Ala)	NGLY1 (V363A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 221580	NM_018297.4(NGLY1):c.1169G>C (p.Arg390Pro)	NGLY1 (R348P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372852	NM_018297.4(NGLY1):c.1150-1G>C	NGLY1	Single nucleotide variant (splice acceptor variant)	Congenital disorder of deglycosylation +1 more	GPathogenic/Likely pathogenic
Select item 1301473	NM_018297.4(NGLY1):c.1150-37A>G	NGLY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174235	NM_018297.4(NGLY1):c.1149+43T>C	NGLY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1302038	NM_018297.4(NGLY1):c.1109G>A (p.Gly370Asp)	NGLY1 (G328D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 807450	NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys)	NGLY1 (Y300C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 1185921	NM_018297.4(NGLY1):c.1004-379del	NGLY1	Deletion (intron variant)	not provided	GLikely benign
Select item 387975	NM_018297.4(NGLY1):c.1003+15A>C	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation +1 more	GBenign/Likely benign
Select item 424175	NM_018297.4(NGLY1):c.978_980del (p.Glu326_Ala327delinsAsp)	NGLY1	Deletion (inframe_indel)	Congenital disorder of deglycosylation +2 more	GConflicting classifications of pathogenicity
Select item 384252	NM_018297.4(NGLY1):c.972G>A (p.Gly324=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation +1 more	GLikely benign
Select item 817550	NM_018297.4(NGLY1):c.961C>T (p.Arg321Ter)	NGLY1 (R279* +1 more)	Single nucleotide variant (nonsense)	Congenital disorder of deglycosylation +1 more	GPathogenic/Likely pathogenic
Select item 999751	NM_018297.4(NGLY1):c.959G>C (p.Cys320Ser)	NGLY1 (C278S +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation +1 more	GUncertain significance
Select item 1182319	NM_018297.4(NGLY1):c.922C>T (p.Arg308Trp)	NGLY1 (R266W +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation +1 more	GConflicting classifications of pathogenicity
Select item 3364167	NM_018297.4(NGLY1):c.882-3C>G	NGLY1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 421762	NM_018297.4(NGLY1):c.882-14dup	NGLY1	Duplication (intron variant)	Congenital disorder of deglycosylation +1 more	GBenign/Likely benign
Select item 1276273	NM_018297.4(NGLY1):c.882-96A>G	NGLY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218090	NM_018297.4(NGLY1):c.882-225G>A	NGLY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 474237	NM_018297.4(NGLY1):c.881+8C>T	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation +1 more	GBenign/Likely benign
Select item 3375561	NM_018297.4(NGLY1):c.874T>C (p.Phe292Leu)	NGLY1 (F250L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 474235	NM_018297.4(NGLY1):c.871C>T (p.Arg291Ter)	NGLY1 (R249* +1 more)	Single nucleotide variant (nonsense)	Congenital disorder of deglycosylation +1 more	GPathogenic/Likely pathogenic
Select item 218753	NM_018297.4(NGLY1):c.869A>G (p.Asn290Ser)	NGLY1 (N248S +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation +3 more	GConflicting classifications of pathogenicity
Select item 581744	NM_018297.4(NGLY1):c.841C>T (p.His281Tyr)	NGLY1 (H281Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 506783	NM_018297.4(NGLY1):c.834G>A (p.Val278=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation +1 more	GLikely benign
Select item 541262	NM_018297.4(NGLY1):c.818G>C (p.Trp273Ser)	NGLY1 (W231S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 644859	NM_018297.4(NGLY1):c.800G>T (p.Ser267Ile)	NGLY1 (S225I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 817497	NM_018297.4(NGLY1):c.798del (p.Ser267fs)	NGLY1 (S225fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1142019	NM_018297.4(NGLY1):c.783T>C (p.Asp261=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation +1 more	GLikely benign
Select item 1132432	NM_018297.4(NGLY1):c.741C>T (p.Asn247=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation +1 more	GLikely benign
Select item 474232	NM_018297.4(NGLY1):c.717A>C (p.Glu239Asp)	NGLY1 (E239D +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation +2 more	GUncertain significance
Select item 745355	NM_018297.4(NGLY1):c.667A>G (p.Ile223Val)	NGLY1 (I181V +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1296484	NM_018297.4(NGLY1):c.659-102A>T	NGLY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235101	NM_018297.4(NGLY1):c.658+281T>C	NGLY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 967858	NM_018297.4(NGLY1):c.658+1G>A	NGLY1	Single nucleotide variant (splice donor variant)	Congenital disorder of deglycosylation +1 more	GLikely pathogenic
Select item 221578	NM_018297.4(NGLY1):c.622C>T (p.Gln208Ter)	NGLY1 (Q166* +1 more)	Single nucleotide variant (nonsense)	Congenital disorder of deglycosylation +1 more	GPathogenic
Select item 417960	NM_018297.4(NGLY1):c.596C>T (p.Pro199Leu)	NGLY1 (P157L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 383504	NM_018297.4(NGLY1):c.582G>A (p.Ala194=)	NGLY1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 474226	NM_018297.4(NGLY1):c.550G>T (p.Val184Phe)	NGLY1 (V184F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1169090	NM_018297.4(NGLY1):c.493-19dup	NGLY1	Duplication (intron variant)	Congenital disorder of deglycosylation +1 more	GBenign
Select item 1207039	NM_018297.4(NGLY1):c.493-232A>G	NGLY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207305	NM_018297.4(NGLY1):c.492+287G>A	NGLY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265852	NM_018297.4(NGLY1):c.492+257A>G	NGLY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274107	NM_018297.4(NGLY1):c.492+167G>A	NGLY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 507010	NM_018297.4(NGLY1):c.492+6G>A	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation +1 more	GConflicting classifications of pathogenicity
Select item 512083	NM_018297.4(NGLY1):c.468A>G (p.Ser156=)	NGLY1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1313246	NM_018297.4(NGLY1):c.413C>G (p.Pro138Arg)	NGLY1 (P138R +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation +1 more	GUncertain significance
Select item 575909	NM_018297.4(NGLY1):c.406A>G (p.Thr136Ala)	NGLY1 (T136A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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