ClinVar Miner

List of variants in gene PCCB reported as pathogenic for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP
NC_000003.11:g.(?_136012588)_(136035916_?)del
NC_000003.11:g.(?_136019910_136021257del
NC_000003.12:g.(?_136250366)_(136250568_?)del
NC_000003.12:g.(?_136316921)_(136317084_?)del
NG_008939.1:g.883_8934del8052
NM_000532.4(PCCB):c.1218_1231delGGGCATCATCCGGCins12 (p.?)
NM_000532.5(PCCB):c.-8_12del (p.Met1fs)
NM_000532.5(PCCB):c.105dup (p.Asn36Ter)
NM_000532.5(PCCB):c.1091-8_1091-3del rs1249235758
NM_000532.5(PCCB):c.1143_1144dup (p.Asp382fs)
NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu)
NM_000532.5(PCCB):c.1172_1173del (p.Phe391fs) rs587776758
NM_000532.5(PCCB):c.1173dup (p.Val392fs) rs587776758
NM_000532.5(PCCB):c.1207C>T (p.Gln403Ter) rs768935968
NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys) rs777027944
NM_000532.5(PCCB):c.1214dup (p.Tyr405Ter)
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000532.5(PCCB):c.1220del (p.Gly407fs) rs1576360488
NM_000532.5(PCCB):c.1223del (p.Ile408fs) rs758309460
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter) rs1553784569
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile) rs111033542
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val) rs751538672
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys) rs769521436
NM_000532.5(PCCB):c.1361_1364del (p.Ala454fs)
NM_000532.5(PCCB):c.136_139delinsCCT (p.Ala46fs) rs1576397633
NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs) rs1553784721
NM_000532.5(PCCB):c.1398+1G>T rs794727092
NM_000532.5(PCCB):c.1399-2_1399-1del
NM_000532.5(PCCB):c.1433_1436dup (p.Glu480fs) rs1576361811
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter) rs202247820
NM_000532.5(PCCB):c.1498+2T>C rs879253816
NM_000532.5(PCCB):c.1499-1G>C
NM_000532.5(PCCB):c.152dup (p.Gln52fs)
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys) rs186710233
NM_000532.5(PCCB):c.1538_1540dup (p.Arg514_Ile515insPro) rs202247821
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro) rs202247822
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp) rs202247823
NM_000532.5(PCCB):c.183+5G>A rs879253813
NM_000532.5(PCCB):c.184-49_188delinsTGCTTTGCTTGCTTTGCTTTGCTTT rs1559995259
NM_000532.5(PCCB):c.280G>T (p.Gly94Ter) rs202247817
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter) rs753981900
NM_000532.5(PCCB):c.335G>A (p.Gly112Asp) rs202247818
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457
NM_000532.5(PCCB):c.371del (p.Gln124fs)
NM_000532.5(PCCB):c.372+2T>C rs879253814
NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter) rs398123463
NM_000532.5(PCCB):c.420_421dup (p.Ile141fs)
NM_000532.5(PCCB):c.457G>C (p.Ala153Pro) rs202247819
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp) rs754752068
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp) rs879253815
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln) rs1304714042
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) rs121964960
NM_000532.5(PCCB):c.505G>T (p.Gly169Ter)
NM_000532.5(PCCB):c.517_518del (p.Leu173fs) rs755776820
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg) rs746102997
NM_000532.5(PCCB):c.600T>A (p.Cys200Ter)
NM_000532.5(PCCB):c.638del (p.Phe213fs) rs1196443543
NM_000532.5(PCCB):c.654+462A>G rs1576327011
NM_000532.5(PCCB):c.655-2A>G rs796052020
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096
NM_000532.5(PCCB):c.737G>T (p.Gly246Val)
NM_000532.5(PCCB):c.76dup (p.Arg26fs)
NM_000532.5(PCCB):c.825dup (p.Asn276fs) rs748393514
NM_000532.5(PCCB):c.838dup (p.Leu280fs) rs769968548
NM_000532.5(PCCB):c.839del (p.Leu280fs) rs1576337935
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) rs572246667
NM_000532.5(PCCB):c.966+1G>T rs1385850128
NM_000532.5(PCCB):c.968TTG[1] (p.Val324del) rs1353971489
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
PCCB, 14-BP DEL, 12-BP INS, NT1218
PCCB, 8-BP DEL, NT3

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