ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as likely pathogenic

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Gene type:
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Total variants: 75
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HGVS dbSNP
NC_000001.10:g.(?_46654371)_(46655681_?)del
NC_000001.10:g.(?_46656135)_(46656466_?)dup
NM_001243766.1(POMGNT1):c.1102_1103GT[1] (p.Gln370fs) rs1553163360
NM_001243766.1(POMGNT1):c.1692_1693CT[1] (p.Ser565fs) rs1057516903
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010
NM_001290129.1(POMGNT1):c.1274_1278CTGGG[2] (p.Trp429fs) rs386834015
NM_017739.3(POMGNT1):c.1011dup (p.Asp338Ter) rs751254522
NM_017739.3(POMGNT1):c.1027-2_1027-1del rs1057516536
NM_017739.3(POMGNT1):c.1113del (p.Tyr372fs) rs1057517369
NM_017739.3(POMGNT1):c.1152+2T>C rs1553163335
NM_017739.3(POMGNT1):c.1212-1G>C rs1553163254
NM_017739.3(POMGNT1):c.1212-3_1212-2del rs1064797111
NM_017739.3(POMGNT1):c.1274G>C (p.Trp425Ser) rs386834011
NM_017739.3(POMGNT1):c.1284+2_1284+19del rs1057516409
NM_017739.3(POMGNT1):c.1285-2A>G rs386834012
NM_017739.3(POMGNT1):c.1319T>G (p.Leu440Arg) rs386834013
NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869
NM_017739.3(POMGNT1):c.1342G>C (p.Gly448Arg) rs386834014
NM_017739.3(POMGNT1):c.1463G>A (p.Arg488Gln) rs766382416
NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960
NM_017739.3(POMGNT1):c.1490G>A (p.Arg497Gln) rs573518562
NM_017739.3(POMGNT1):c.1526A>G (p.Asn509Ser) rs1557671443
NM_017739.3(POMGNT1):c.1538_1539+2del rs1057516576
NM_017739.3(POMGNT1):c.1539+1G>A rs138642840
NM_017739.3(POMGNT1):c.1539+1del rs1553163077
NM_017739.3(POMGNT1):c.1540-2A>G rs386834016
NM_017739.3(POMGNT1):c.1562del (p.Lys521fs) rs1057517422
NM_017739.3(POMGNT1):c.1604+1G>A rs1553162873
NM_017739.3(POMGNT1):c.1604+2T>C rs1553162872
NM_017739.3(POMGNT1):c.1605-1G>C rs770219373
NM_017739.3(POMGNT1):c.1649+2T>G rs1268759044
NM_017739.3(POMGNT1):c.1649G>A (p.Ser550Asn) rs193919335
NM_017739.3(POMGNT1):c.1695_1698del (p.Phe566fs) rs1057516986
NM_017739.3(POMGNT1):c.1719del (p.His573fs) rs386834017
NM_017739.3(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018
NM_017739.3(POMGNT1):c.1741_1745del (p.Met581fs) rs749332339
NM_017739.3(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019
NM_017739.3(POMGNT1):c.1785+2T>G rs386834020
NM_017739.3(POMGNT1):c.1786-1G>A rs1457667479
NM_017739.3(POMGNT1):c.1786-2A>G rs1057517340
NM_017739.3(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017739.3(POMGNT1):c.1852A>T (p.Lys618Ter) rs1553162663
NM_017739.3(POMGNT1):c.1864del (p.Leu622fs) rs386834021
NM_017739.3(POMGNT1):c.1876del (p.Val626fs) rs386834022
NM_017739.3(POMGNT1):c.1895+1G>A rs386834024
NM_017739.3(POMGNT1):c.1895+1G>C rs386834024
NM_017739.3(POMGNT1):c.1895+1G>T rs386834024
NM_017739.3(POMGNT1):c.1895+5_1895+8del rs386834023
NM_017739.3(POMGNT1):c.1896-1G>C rs386834025
NM_017739.3(POMGNT1):c.1905del (p.Lys635fs) rs1553162601
NM_017739.3(POMGNT1):c.1928del (p.Phe643fs) rs386834026
NM_017739.3(POMGNT1):c.447del (p.Phe149fs) rs386834029
NM_017739.3(POMGNT1):c.478del (p.Met160fs) rs1057517355
NM_017739.3(POMGNT1):c.526A>C (p.Thr176Pro) rs386834030
NM_017739.3(POMGNT1):c.593del (p.Ser198fs) rs386834031
NM_017739.3(POMGNT1):c.594C>G (p.Ser198Arg) rs386834032
NM_017739.3(POMGNT1):c.630G>T (p.Trp210Cys) rs386834033
NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034
NM_017739.3(POMGNT1):c.652+1G>A rs386834035
NM_017739.3(POMGNT1):c.652+1G>T
NM_017739.3(POMGNT1):c.653-2A>C rs1553163721
NM_017739.3(POMGNT1):c.667G>A (p.Glu223Lys) rs386834036
NM_017739.3(POMGNT1):c.806G>A (p.Cys269Tyr) rs386834037
NM_017739.3(POMGNT1):c.875del (p.Asp292fs) rs1057517247
NM_017739.3(POMGNT1):c.879+1G>C rs1553163590
NM_017739.3(POMGNT1):c.879+2T>C rs1057516318
NM_017739.3(POMGNT1):c.879+5G>A rs386834038
NM_017739.3(POMGNT1):c.879+5G>T rs386834038
NM_017739.3(POMGNT1):c.880-1G>A rs1317832573
NM_017739.3(POMGNT1):c.880-2A>G rs1057516830
NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039
NM_017739.3(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336
NM_017739.3(POMGNT1):c.982dup (p.Val328fs) rs386834040
NM_017739.3(POMGNT1):c.987del (p.Pro330fs) rs1057516955

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