ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Invitae

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 304
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_100381624_100382277del
NC_000001.11:g.(?_99921514)_(99921671_?)del
NC_000001.11:g.(?_99921524)_(99921661_?)del
NC_000003.12:g.(?_81490387)_(81705633_?)del
NC_000003.12:g.(?_81490397)_(81490473_?)del
NC_000005.9:g.(?_78181397)_(78181660_?)dup
NC_000008.10:g.(?_43028846)_(43028896_?)dup
NC_000009.11:g.(?_104169266_104189861del
NC_000009.11:g.(?_104187883_104189197del
NC_000009.11:g.(?_104187884_104189197del
NC_000009.11:g.(?_34649002_34650433del
NC_000011.10:g.(?_64746639)_(64747378_?)del
NC_000011.10:g.(?_64758236)_(64758714_?)del
NC_000012.11:g.(?_65094311_65130836del
NC_000012.11:g.(?_65133151)_(65146547_?)dup
NC_000012.12:g.(?_64716721)_(64723133_?)del
NC_000016.9:g.(?_88884395)_(88884552_?)del
NC_000016.9:g.(?_88893090)_(88904193_?)del
NC_000017.10:g.(?_73754587_73758319del
NC_000017.10:g.(?_78086381_78091497del
NC_000017.11:g.(?_80107537)_(80113386_?)del
NC_000019.9:g.(?_12758358_12759516del
NC_000023.11:g.18895137dup
NM_000027.4(AGA):c.346C>T (p.Arg116Trp) rs386833423
NM_000027.4(AGA):c.508-2A>G rs986682657
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431
NM_000027.4(AGA):c.698+1G>A rs1057517175
NM_000035.4(ALDOB):c.1007_1008delinsT (p.Cys336fs)
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000035.4(ALDOB):c.113-1G>A
NM_000035.4(ALDOB):c.2T>C (p.Met1Thr)
NM_000035.4(ALDOB):c.379+1G>T
NM_000035.4(ALDOB):c.380-2A>G rs1300461861
NM_000035.4(ALDOB):c.541-277_651del
NM_000035.4(ALDOB):c.949_950insCAGGGCCCGTGCACTGGCTGCCTGGGGTGGCA (p.Lys317fs)
NM_000046.5(ARSB):c.1140_1142+2del
NM_000046.5(ARSB):c.1214-2A>T
NM_000046.5(ARSB):c.1289A>G (p.His430Arg) rs1171277553
NM_000046.5(ARSB):c.1438dup (p.Asp480fs) rs1167459660
NM_000046.5(ARSB):c.1601A>C (p.Ter534Ser)
NM_000046.5(ARSB):c.441C>G (p.His147Gln)
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000108.5(DLD):c.1416_1422del (p.Tyr473fs)
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.5(DLD):c.338-1G>T
NM_000108.5(DLD):c.583-1G>C
NM_000108.5(DLD):c.875+1G>A rs1328820332
NM_000151.4(G6PC1):c.323C>T (p.Thr108Ile) rs1597988331
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) rs886052955
NM_000151.4(G6PC1):c.446+1G>C rs1597989983
NM_000151.4(G6PC1):c.446+2T>C rs1597989985
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu) rs1189630738
NM_000151.4(G6PC1):c.626A>G (p.Tyr209Cys)
NM_000151.4(G6PC1):c.792C>G (p.Asn264Lys)
NM_000151.4(G6PC1):c.821C>T (p.Ala274Val)
NM_000152.5(GAA):c.1195-2A>C
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del) rs1555600235
NM_000152.5(GAA):c.1438-1G>T rs147804176
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.1555A>G (p.Met519Val)
NM_000152.5(GAA):c.1754+1_1754+7del
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro) rs775450536
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1888+1G>A
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys) rs1555601633
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg) rs1555601773
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) rs577042191
NM_000152.5(GAA):c.2332-1G>C rs1555602832
NM_000152.5(GAA):c.2707_2709del (p.Lys903del) rs121907939
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) rs200210219
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086
NM_000152.5(GAA):c.854C>G (p.Pro285Arg) rs764622267
NM_000152.5(GAA):c.952A>T (p.Met318Leu) rs886044506
NM_000152.5(GAA):c.953T>A (p.Met318Lys) rs121907936
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811
NM_000155.4(GALT):c.1048del (p.Thr350fs) rs775762045
NM_000155.4(GALT):c.1087G>A (p.Glu363Lys) rs367543273
NM_000155.4(GALT):c.290A>G (p.Asn97Ser) rs111033669
NM_000155.4(GALT):c.378-2A>G
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682
NM_000155.4(GALT):c.428C>G (p.Ser143Trp)
NM_000155.4(GALT):c.428C>T (p.Ser143Leu) rs111033697
NM_000155.4(GALT):c.502G>T (p.Val168Leu) rs367543258
NM_000155.4(GALT):c.508-2_509del
NM_000155.4(GALT):c.556C>T (p.His186Tyr) rs111033725
NM_000155.4(GALT):c.575G>A (p.Ser192Asn) rs111033734
NM_000155.4(GALT):c.626A>C (p.Tyr209Ser) rs111033744
NM_000155.4(GALT):c.688-1G>C
NM_000155.4(GALT):c.691C>G (p.Arg231Gly)
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.892A>G (p.Met298Val)
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000158.4(GBE1):c.143+2T>C
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000158.4(GBE1):c.1618+1G>A
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)
NM_000158.4(GBE1):c.1803+1G>A
NM_000158.4(GBE1):c.1803+2T>C rs539203557
NM_000158.4(GBE1):c.1804-2A>T
NM_000158.4(GBE1):c.555+1G>T rs759707498
NM_000158.4(GBE1):c.956A>G (p.His319Arg)
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671
NM_000158.4(GBE1):c.992+2T>G
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys) rs764057581
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro) rs779703983
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg) rs774010006
NM_000199.5(SGSH):c.268G>C (p.Gly90Arg)
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu) rs104894635
NM_000199.5(SGSH):c.745+1G>C
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254
NM_000199.5(SGSH):c.88_88+67del
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly)
NM_000202.8(IDS):c.1006G>T (p.Gly336Trp) rs1557338581
NM_000202.8(IDS):c.1024C>T (p.His342Tyr)
NM_000202.8(IDS):c.1040A>G (p.Lys347Arg)
NM_000202.8(IDS):c.133G>C (p.Asp45His) rs869025301
NM_000202.8(IDS):c.328A>G (p.Arg110Gly)
NM_000202.8(IDS):c.670G>A (p.Gly224Arg)
NM_000203.5(IDUA):c.1039A>C (p.Ser347Arg)
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn) rs368454909
NM_000203.5(IDUA):c.1330GAC[1] (p.Asp445del)
NM_000203.5(IDUA):c.1403-1G>T rs4690223
NM_000203.5(IDUA):c.1524+1G>A
NM_000203.5(IDUA):c.1525-11_1536del
NM_000203.5(IDUA):c.158+1G>A rs1264013707
NM_000203.5(IDUA):c.159-2A>C
NM_000203.5(IDUA):c.159-2A>G
NM_000203.5(IDUA):c.1651-2A>G
NM_000203.5(IDUA):c.1728-1G>A rs1249951282
NM_000203.5(IDUA):c.1829-1G>A rs745915863
NM_000203.5(IDUA):c.1829-2A>G rs1553917733
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe)
NM_000203.5(IDUA):c.1897del (p.Ser633fs) rs1553917756
NM_000203.5(IDUA):c.299_299+1delinsAT
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del) rs774605197
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg) rs776098539
NM_000203.5(IDUA):c.590-2A>G
NM_000203.5(IDUA):c.904C>A (p.Pro302Thr)
NM_000262.3(NAGA):c.324+1G>A rs140673721
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) rs749140168
NM_000263.4(NAGLU):c.1081T>C (p.Trp361Arg)
NM_000263.4(NAGLU):c.1354G>A (p.Glu452Lys)
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter) rs527236038
NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu) rs527236038
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478
NM_000263.4(NAGLU):c.214_237dup (p.Ala72_Gly79dup)
NM_000263.4(NAGLU):c.457G>A (p.Glu153Lys)
NM_000263.4(NAGLU):c.531+1G>A
NM_000263.4(NAGLU):c.532-1G>C
NM_000289.6(PFKM):c.1127+1G>T
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) rs121918193
NM_000289.6(PFKM):c.1191+1G>A rs746348793
NM_000289.6(PFKM):c.1413-2A>G rs1430517061
NM_000289.6(PFKM):c.1500+1G>A
NM_000289.6(PFKM):c.1501-2del
NM_000289.6(PFKM):c.159+1G>T
NM_000289.6(PFKM):c.936+1G>A
NM_000292.3(PHKA2):c.-9_2del (p.Met1fs) rs1569344469
NM_000292.3(PHKA2):c.1042-1G>A
NM_000292.3(PHKA2):c.1714+1G>A rs1556002344
NM_000292.3(PHKA2):c.1A>G (p.Met1Val)
NM_000292.3(PHKA2):c.2518-1G>A
NM_000292.3(PHKA2):c.2597+1G>A rs1210626722
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp) rs1569297427
NM_000292.3(PHKA2):c.285+2_285+5del
NM_000292.3(PHKA2):c.3283-1G>C
NM_000292.3(PHKA2):c.3336+2T>A rs1555988479
NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile) rs137852293
NM_000292.3(PHKA2):c.3371_3377dup (p.Val1127fs)
NM_000292.3(PHKA2):c.3424_3425insT (p.Glu1142fs)
NM_000292.3(PHKA2):c.3644_3646dup (p.Thr1216_Arg1217insIle)
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) rs137852294
NM_000292.3(PHKA2):c.557G>A (p.Arg186His) rs137852290
NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys) rs797045008
NM_000293.3(PHKB):c.1797+1G>C
NM_000294.3(PHKG2):c.96-11G>A
NM_000308.4(CTSA):c.869+1G>C
NM_000340.2(SLC2A2):c.775+1G>A rs756874949
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn) rs749980306
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) rs28934886
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys) rs72555365
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys) rs968221254
NM_000404.4(GLB1):c.1468_1470del (p.Asn490del)
NM_000404.4(GLB1):c.146G>A (p.Arg49His) rs780523881
NM_000404.4(GLB1):c.1685dup (p.Asp564fs)
NM_000404.4(GLB1):c.1769G>A (p.Arg590His) rs398123351
NM_000404.4(GLB1):c.2006dup (p.Asn669fs)
NM_000404.4(GLB1):c.202C>G (p.Arg68Gly)
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) rs72555370
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly) rs398123355
NM_000404.4(GLB1):c.518T>C (p.Leu173Pro) rs397515617
NM_000404.4(GLB1):c.557A>C (p.Glu186Ala)
NM_000404.4(GLB1):c.716C>T (p.Thr239Met) rs746766232
NM_000404.4(GLB1):c.769_792+13del rs1282958432
NM_000404.4(GLB1):c.955+2T>G
NM_000507.4(FBP1):c.779del (p.Gly260fs) rs1554679825
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg) rs755832705
NM_000512.5(GALNS):c.1219A>C (p.Asn407His) rs749578474
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311
NM_000512.5(GALNS):c.320-1G>T
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu)
NM_000512.5(GALNS):c.422+1G>T
NM_000512.5(GALNS):c.422+2T>G
NM_000512.5(GALNS):c.425A>T (p.His142Leu)
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu) rs1308500116
NM_000512.5(GALNS):c.679T>G (p.Phe227Val)
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro) rs864621980
NM_000528.4(MAN2B1):c.1109+1G>C
NM_000528.4(MAN2B1):c.1110-1G>T rs1599352199
NM_000528.4(MAN2B1):c.1310-1G>A rs1555708156
NM_000528.4(MAN2B1):c.2046+2T>A rs748712495
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg) rs864621993
NM_000528.4(MAN2B1):c.2268-2A>T
NM_000528.4(MAN2B1):c.2437-300_2719del
NM_000528.4(MAN2B1):c.2887_2902del (p.Glu963fs)
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159
NM_000642.3(AGL):c.1284-2A>G
NM_000642.3(AGL):c.2158-2A>G rs878959417
NM_000642.3(AGL):c.2309-1G>A rs786204481
NM_000642.3(AGL):c.2309-2A>G
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.3589-3C>G
NM_000642.3(AGL):c.664+2T>C
NM_001008216.2(GALE):c.351+1G>T
NM_001040716.2(PC):c.1369-1G>C
NM_001040716.2(PC):c.1514-2A>G
NM_001040716.2(PC):c.903+2T>A
NM_001164277.1(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883
NM_001164277.1(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881
NM_001164277.1(SLC37A4):c.784+2T>G rs1592111559
NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu)
NM_001164277.2(SLC37A4):c.786-2A>G
NM_001164278.2(SLC37A4):c.1309C>T (p.Arg437Ter) rs121908979
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu)
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228
NM_001352514.2(HLCS):c.2237-56_2255del
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211
NM_001370658.1(BTD):c.-17+2T>C
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser) rs397514410
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln) rs397514352
NM_001370658.1(BTD):c.419G>T (p.Cys140Phe) rs745343884
NM_001467.6(SLC37A4):c.786-1G>A
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys) rs563971993
NM_002076.4(GNS):c.1308+2T>C
NM_002076.4(GNS):c.625-2A>G
NM_002103.5(GYS1):c.1170-2A>G
NM_002103.5(GYS1):c.119-2_120del rs1422043936
NM_002103.5(GYS1):c.1229+1G>A
NM_002103.5(GYS1):c.678+1G>A
NM_002294.3(LAMP2):c.864G>A (p.Val288=)
NM_002637.4(PHKA1):c.2527-1G>T rs1556257317
NM_002863.5(PYGL):c.772+1G>A rs776545903
NM_002863.5(PYGL):c.772+2_772+3del rs765425704
NM_004130.3(GYG1):c.304G>C (p.Asp102His) rs143137713
NM_005609.4(PYGM):c.1092+1G>A rs749560316
NM_005609.4(PYGM):c.1092+1G>C
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys) rs757681143
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)
NM_005609.4(PYGM):c.1240-2A>G rs1212333772
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) rs119103252
NM_005609.4(PYGM):c.1760T>C (p.Leu587Pro)
NM_005609.4(PYGM):c.1769-1G>A
NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg) rs768604948
NM_005609.4(PYGM):c.2385_2386del (p.Glu797fs)
NM_005609.4(PYGM):c.244-1G>A
NM_005609.4(PYGM):c.2T>C (p.Met1Thr)
NM_005609.4(PYGM):c.345+2T>A
NM_005609.4(PYGM):c.425-2A>G rs752851284
NM_005609.4(PYGM):c.528+1G>A
NM_005609.4(PYGM):c.660+1G>A rs1555136208
NM_005609.4(PYGM):c.773-1G>C
NM_005609.4(PYGM):c.855+1G>A
NM_005908.4(MANBA):c.1318-1G>T rs374545788
NM_006859.4(LIAS):c.737+1G>A rs546751789
NM_013995.2(LAMP2):c.65-1G>C rs730880496
NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu) rs193922697
NM_018297.4(NGLY1):c.1150-1G>C rs532007026
NM_018297.4(NGLY1):c.1426-1G>A
NM_018297.4(NGLY1):c.1891del (p.Gln631fs) rs587776982
NM_018297.4(NGLY1):c.247-1G>A rs1575650389
NM_018297.4(NGLY1):c.658+1G>A
NM_021957.4(GYS2):c.1062+1G>T rs781511110
NM_021957.4(GYS2):c.1229+1G>A rs764539267
NM_152419.3(HGSNAT):c.1013-1G>C
NM_152419.3(HGSNAT):c.1129-2A>T rs749568919
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys) rs121908284
NM_152419.3(HGSNAT):c.563+2T>A
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.