List of variants reported as likely pathogenic for oligosaccharidosis by Labcorp Genetics (formerly Invitae), Labcorp

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 118

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HGVS	dbSNP	gnomAD frequency
NM_000528.4(MAN2B1):c.2046+2T>A	rs748712495	0.00007
NM_000262.3(NAGA):c.324+1G>A	rs140673721	0.00004
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln)	rs373240866	0.00004
NM_005908.4(MANBA):c.1318-1G>T	rs374545788	0.00004
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys)	rs370760999	0.00003
NM_000528.4(MAN2B1):c.2664+1G>A	rs771953225	0.00003
NM_000308.4(CTSA):c.1318T>G (p.Phe440Val)	rs137854540	0.00002
NM_000528.4(MAN2B1):c.1929-1G>T	rs763100457	0.00002
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg)	rs864621993	0.00002
NM_005908.4(MANBA):c.378+1G>A	rs142029636	0.00002
NM_005908.4(MANBA):c.544C>T (p.Arg182Trp)	rs374377679	0.00002
NM_005908.4(MANBA):c.550-1G>A	rs760404534	0.00002
NM_000027.4(AGA):c.301G>A (p.Ala101Thr)	rs752914246	0.00001
NM_000027.4(AGA):c.508-2A>G	rs986682657	0.00001
NM_000147.5(FUCA1):c.1229T>G (p.Leu410Arg)	rs80358199	0.00001
NM_000308.4(CTSA):c.146A>G (p.Gln49Arg)	rs137854541	0.00001
NM_000308.4(CTSA):c.869+1G>C	rs1987148852	0.00001
NM_000528.4(MAN2B1):c.1420-1G>A	rs752229880	0.00001
NM_000528.4(MAN2B1):c.1528-1G>A	rs561991886	0.00001
NM_000528.4(MAN2B1):c.2267+1G>A	rs1022927322	0.00001
NM_000528.4(MAN2B1):c.2436+2T>C	rs398123457	0.00001
NM_000528.4(MAN2B1):c.2820+1G>A	rs768734132	0.00001
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu)	rs746808159	0.00001
NM_005908.4(MANBA):c.2352_2356del (p.Thr785fs)	rs1341763493	0.00001
NC_000001.10:g.(?_24186268)_(24186413_?)dup
NC_000004.11:g.(?_103635575)_(103635738_?)dup
NC_000019.9:g.(?_12758358)_(12759516_?)del
NC_000019.9:g.(?_12760707)_(12763294_?)dup
NC_000019.9:g.(?_12760717)_(12761046_?)dup
NC_000022.10:g.(?_42461722)_(42464598_?)dup
NM_000027.4(AGA):c.127+1G>A	rs1057516565
NM_000027.4(AGA):c.179G>A (p.Gly60Asp)	rs121964907
NM_000027.4(AGA):c.281+1G>T	rs1553994812
NM_000027.4(AGA):c.346C>T (p.Arg116Trp)	rs386833423
NM_000027.4(AGA):c.698+1G>A	rs1057517175
NM_000027.4(AGA):c.698+2T>C	rs2111013260
NM_000027.4(AGA):c.807-1G>A
NM_000027.4(AGA):c.904G>C (p.Gly302Arg)
NM_000147.5(FUCA1):c.1000A>T (p.Asn334Tyr)
NM_000147.5(FUCA1):c.1261-1G>A
NM_000147.5(FUCA1):c.203C>T (p.Ser68Leu)
NM_000147.5(FUCA1):c.389+2T>G
NM_000147.5(FUCA1):c.662_662+8del	rs766794815
NM_000147.5(FUCA1):c.663-1G>C
NM_000147.5(FUCA1):c.768+1G>A	rs1639468949
NM_000147.5(FUCA1):c.768+1G>T
NM_000147.5(FUCA1):c.768+2T>C
NM_000147.5(FUCA1):c.769-2A>C
NM_000262.3(NAGA):c.16+1G>A
NM_000262.3(NAGA):c.322_324+9del
NM_000262.3(NAGA):c.324+1G>C
NM_000262.3(NAGA):c.325-1G>C
NM_000262.3(NAGA):c.598-1G>A
NM_000262.3(NAGA):c.759+1_759+8del	rs768761898
NM_000262.3(NAGA):c.949_957+8del
NM_000308.4(CTSA):c.1088+1G>A
NM_000308.4(CTSA):c.1255-1G>A
NM_000308.4(CTSA):c.1267C>T (p.Arg423Cys)
NM_000308.4(CTSA):c.306+2T>A
NM_000308.4(CTSA):c.358-2A>G
NM_000308.4(CTSA):c.445-18_447del	rs1987030082
NM_000308.4(CTSA):c.445-1G>C
NM_000308.4(CTSA):c.553C>A (p.Pro185Thr)
NM_000308.4(CTSA):c.601-2A>C
NM_000308.4(CTSA):c.948+13_954delinsAGA
NM_000528.4(MAN2B1):c.1027-1G>C
NM_000528.4(MAN2B1):c.1027-2A>G
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro)	rs864621980
NM_000528.4(MAN2B1):c.1109+1G>C	rs2024027294
NM_000528.4(MAN2B1):c.1110-1G>A
NM_000528.4(MAN2B1):c.1110-1G>T	rs1599352199
NM_000528.4(MAN2B1):c.1231-1G>C
NM_000528.4(MAN2B1):c.1310-1G>A	rs1555708156
NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe)	rs864621984
NM_000528.4(MAN2B1):c.1419+1G>T
NM_000528.4(MAN2B1):c.1419+2_1419+15del	rs2145256406
NM_000528.4(MAN2B1):c.1420-104_1449del
NM_000528.4(MAN2B1):c.1420-27_1420-3del
NM_000528.4(MAN2B1):c.1420-2A>G	rs2145254657
NM_000528.4(MAN2B1):c.1528-1G>T	rs561991886
NM_000528.4(MAN2B1):c.1528-2A>G
NM_000528.4(MAN2B1):c.159+1G>A	rs1555710254
NM_000528.4(MAN2B1):c.159+2T>C	rs1057516501
NM_000528.4(MAN2B1):c.1929-2A>G	rs2023856348
NM_000528.4(MAN2B1):c.2166-2A>G	rs2145232776
NM_000528.4(MAN2B1):c.2248C>G (p.Arg750Gly)	rs80338680
NM_000528.4(MAN2B1):c.2268-2A>T	rs2023783146
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp)	rs864621994
NM_000528.4(MAN2B1):c.2437-300_2719del
NM_000528.4(MAN2B1):c.262+2T>C
NM_000528.4(MAN2B1):c.263-1G>A
NM_000528.4(MAN2B1):c.263-2A>C
NM_000528.4(MAN2B1):c.2665-2A>G
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His)	rs758765126
NM_000528.4(MAN2B1):c.2821-2A>G
NM_000528.4(MAN2B1):c.2887_2902del (p.Glu963fs)	rs2023710111
NM_000528.4(MAN2B1):c.437-1G>A
NM_000528.4(MAN2B1):c.437-2A>G
NM_000528.4(MAN2B1):c.437-2del
NM_000528.4(MAN2B1):c.599A>T (p.His200Leu)	rs864621978
NM_000528.4(MAN2B1):c.631-2A>C
NM_000528.4(MAN2B1):c.686G>T (p.Arg229Leu)	rs574202419
NM_000528.4(MAN2B1):c.763+2_763+8del	rs1057517108
NM_000528.4(MAN2B1):c.909+1G>C
NM_005908.4(MANBA):c.1112+1G>T
NM_005908.4(MANBA):c.1231-1G>A
NM_005908.4(MANBA):c.1704+1G>T
NM_005908.4(MANBA):c.1705-2A>G
NM_005908.4(MANBA):c.178-2A>G
NM_005908.4(MANBA):c.2015-1G>A
NM_005908.4(MANBA):c.272+2T>C
NM_005908.4(MANBA):c.273-1G>A
NM_005908.4(MANBA):c.378+2T>C
NM_005908.4(MANBA):c.379-1G>A
NM_005908.4(MANBA):c.673+1G>A
NM_005908.4(MANBA):c.674-1G>C
NM_005908.4(MANBA):c.674-2A>G
NM_005908.4(MANBA):c.961-2A>C	rs1411236177

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