ClinVar Miner

List of variants in gene PYGM reported as pathogenic

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Total variants: 65
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HGVS dbSNP
NC_000011.10:g.(?_64750356)_(64750603_?)del
NC_000011.10:g.(?_64750366)_(64750593_?)del
NC_000011.10:g.(?_64758226)_(64758724_?)del
NM_005609.4(PYGM):c.112_122del (p.Phe38fs)
NM_005609.4(PYGM):c.1162_1169delinsA (p.Trp388fs)
NM_005609.4(PYGM):c.1187T>C (p.Leu396Pro) rs119103254
NM_005609.4(PYGM):c.1239+1G>A rs759657964
NM_005609.4(PYGM):c.129_150del (p.Asp43fs)
NM_005609.4(PYGM):c.1366G>A (p.Val456Met) rs398124208
NM_005609.4(PYGM):c.13_14del (p.Leu5fs) rs772194378
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209
NM_005609.4(PYGM):c.1466dup (p.Arg490fs) rs886041476
NM_005609.4(PYGM):c.1477del (p.Leu493fs)
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly) rs397514631
NM_005609.4(PYGM):c.152_154ACT[2] (p.Tyr53del) rs1325298827
NM_005609.4(PYGM):c.1531del (p.Asp511fs)
NM_005609.4(PYGM):c.1545_1546del (p.Leu516fs)
NM_005609.4(PYGM):c.1561A>T (p.Lys521Ter) rs1592410003
NM_005609.4(PYGM):c.1621G>T (p.Glu541Ter) rs119103257
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) rs119103252
NM_005609.4(PYGM):c.164_168del (p.Ala55fs)
NM_005609.4(PYGM):c.1657G>T (p.Glu553Ter)
NM_005609.4(PYGM):c.1722T>A (p.Tyr574Ter)
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter) rs119103260
NM_005609.4(PYGM):c.1725del (p.Lys575fs) rs786200874
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255
NM_005609.4(PYGM):c.1768+1G>A rs771427957
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) rs119103259
NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter) rs114073621
NM_005609.4(PYGM):c.1948del (p.Arg650fs)
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys) rs119103253
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256
NM_005609.4(PYGM):c.1A>C (p.Met1Leu) rs267606993
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
NM_005609.4(PYGM):c.1A>T (p.Met1Leu) rs267606993
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869
NM_005609.4(PYGM):c.2075_2076del (p.Thr692fs) rs1592408302
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val)
NM_005609.4(PYGM):c.2125_2127TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.2178-1G>A rs143670942
NM_005609.4(PYGM):c.2181dup (p.Asn728fs)
NM_005609.4(PYGM):c.2199C>G (p.Tyr733Ter)
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs) rs770037766
NM_005609.4(PYGM):c.2255_2264dup (p.Gln755fs)
NM_005609.4(PYGM):c.2259dup (p.Lys754fs)
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2380-1G>A rs1555133248
NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter) rs527236146
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp) rs370247862
NM_005609.4(PYGM):c.395_408del (p.Leu132fs) rs1565538121
NM_005609.4(PYGM):c.425-26A>G rs764313717
NM_005609.4(PYGM):c.501dup (p.Asn168Ter) rs1555136390
NM_005609.4(PYGM):c.521dup (p.Trp175fs)
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896
NM_005609.4(PYGM):c.661-601G>A rs1474863903
NM_005609.4(PYGM):c.682del (p.Asp228fs)
NM_005609.4(PYGM):c.78_79del (p.Glu27fs) rs755117847
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769
PYGM, 1-BP INS, A/8-BP DEL, CODON 387
PYGM, IVS14, G-A, +1

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