ClinVar Miner

List of variants in gene GNE reported as likely pathogenic by Counsyl

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Gene type:
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Total variants: 44
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HGVS dbSNP
NM_001128227.2(GNE):c.1376delG (p.Gly459Valfs) rs1057516705
NM_001128227.2(GNE):c.1504+1delG rs1057516597
NM_001128227.2(GNE):c.709+1delG rs1554663295
NM_001128227.3(GNE):c.88C>T (p.Gln30Ter) rs1554664090
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522
NM_005476.7(GNE):c.1158del (p.Lys386fs) rs1057516275
NM_005476.7(GNE):c.1262T>C (p.Val421Ala) rs1057516364
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter) rs786204558
NM_005476.7(GNE):c.1417del (p.Ser473fs) rs1057516965
NM_005476.7(GNE):c.1485G>A (p.Trp495Ter) rs1212623980
NM_005476.7(GNE):c.1523T>C (p.Leu508Ser) rs1057516798
NM_005476.7(GNE):c.1525C>T (p.His509Tyr) rs754892377
NM_005476.7(GNE):c.1543_1544del (p.Asp515fs) rs1057516657
NM_005476.7(GNE):c.1556A>G (p.Asn519Ser) rs1554658910
NM_005476.7(GNE):c.1609_1616del (p.Phe537fs) rs1057516340
NM_005476.7(GNE):c.1686del (p.Cys563fs) rs886044449
NM_005476.7(GNE):c.1740del (p.Cys581fs) rs1554658453
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603
NM_005476.7(GNE):c.1781del (p.Met594fs) rs1057517157
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005476.7(GNE):c.2122G>A (p.Gly708Ser) rs1554657922
NM_005476.7(GNE):c.31C>T (p.Arg11Trp) rs769716748
NM_005476.7(GNE):c.385C>T (p.Arg129Ter) rs372872777
NM_005476.7(GNE):c.386G>A (p.Arg129Gln) rs748704459
NM_005476.7(GNE):c.388del (p.Ile130fs) rs1423445315
NM_005476.7(GNE):c.435_438del (p.Ile146fs) rs1057516915
NM_005476.7(GNE):c.484C>T (p.Arg162Cys) rs769215411
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514
NM_005476.7(GNE):c.529C>T (p.Arg177Cys) rs539332585
NM_005476.7(GNE):c.572C>G (p.Ser191Ter) rs1357906793
NM_005476.7(GNE):c.612G>A (p.Trp204Ter) rs786204476
NM_005476.7(GNE):c.630dup (p.Ser211fs) rs1554661569
NM_005476.7(GNE):c.636dup (p.Asp213fs) rs1057517094
NM_005476.7(GNE):c.640del (p.Tyr214fs) rs1554661561
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939
NM_005476.7(GNE):c.655C>T (p.Gln219Ter) rs1057516906
NM_005476.7(GNE):c.680dup (p.His228fs) rs1554661552
NM_005476.7(GNE):c.722T>G (p.Ile241Ser) rs759945787
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629
NM_005476.7(GNE):c.80C>T (p.Pro27Leu) rs1236647498
NM_005476.7(GNE):c.829C>T (p.Arg277Cys) rs762106720
NM_005476.7(GNE):c.856C>T (p.Gln286Ter) rs1057516746
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387
NM_005476.7(GNE):c.916C>T (p.Arg306Ter) rs1057516374

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