NM_000289.6(PFKM):c.2176C>T (p.Leu726=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001412333] |
Chr12:48145293 [GRCh38] Chr12:48539076 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000001213] |
Chr12:48130393 [GRCh38] Chr12:48524176 [GRCh37] Chr12:12q13.11 |
pathogenic|likely pathogenic |
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000001214] |
Chr12:48142041 [GRCh38] Chr12:48535824 [GRCh37] Chr12:12q13.11 |
pathogenic|uncertain significance |
NM_000289.6(PFKM):c.116G>T (p.Arg39Leu) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000001216] |
Chr12:48130393 [GRCh38] Chr12:48524176 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000001217] |
Chr12:48132913 [GRCh38] Chr12:48526696 [GRCh37] Chr12:12q13.11 |
pathogenic|likely pathogenic |
NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000001218] |
Chr12:48145096 [GRCh38] Chr12:48538879 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.1341+1G>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000001211] |
Chr12:48140872 [GRCh38] Chr12:48534655 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.428-2A>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000001212] |
Chr12:48133313 [GRCh38] Chr12:48527096 [GRCh37] Chr12:12q13.11 |
pathogenic |
PFKM, IVS5DS, G-A, +1 |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000001215] |
Chr12:12q13.3 |
pathogenic |
PFKM, 1-BP DEL, 2003C |
deletion |
Glycogen storage disease, type VII [RCV000001219] |
Chr12:12q13.3 |
pathogenic |
NM_000289.6(PFKM):c.2137A>G (p.Met713Val) |
single nucleotide variant |
not provided [RCV000122465] |
Chr12:48145254 [GRCh38] Chr12:48539037 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1192-4A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001494591] |
Chr12:48140718 [GRCh38] Chr12:48534501 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2126G>A (p.Cys709Tyr) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001286169] |
Chr12:48145243 [GRCh38] Chr12:48539026 [GRCh37] Chr12:12q13.11 |
uncertain significance |
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33 |
pathogenic |
NM_000289.6(PFKM):c.237+1G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000169670]|Rhabdomyolysis [RCV000662285]|not provided [RCV002243838] |
Chr12:48131394 [GRCh38] Chr12:48525177 [GRCh37] Chr12:12q13.11 |
pathogenic|likely pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001079312]|not provided [RCV000756472] |
Chr12:48140869 [GRCh38] Chr12:48534652 [GRCh37] Chr12:12q13.11 |
benign|likely benign |
GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 |
copy number gain |
See cases [RCV000207454] |
Chr12:31886971..50360461 [GRCh37] Chr12:12p11.21-q13.12 |
pathogenic |
NM_000289.6(PFKM):c.1880+27A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001533439]|not provided [RCV000675440]|not specified [RCV000243490] |
Chr12:48143841 [GRCh38] Chr12:48537624 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.844-44G>T |
single nucleotide variant |
not provided [RCV001541245]|not specified [RCV000251013] |
Chr12:48135247 [GRCh38] Chr12:48529030 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.747+24T>G |
single nucleotide variant |
not provided [RCV000675437]|not specified [RCV000246281] |
Chr12:48134853 [GRCh38] Chr12:48528636 [GRCh37] Chr12:12q13.11 |
benign|likely benign |
NM_000289.6(PFKM):c.246G>A (p.Thr82=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000283573]|not provided [RCV000675433]|not specified [RCV000253516] |
Chr12:48132876 [GRCh38] Chr12:48526659 [GRCh37] Chr12:12q13.11 |
benign|likely benign |
NM_000289.6(PFKM):c.2093-14A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000267403]|not provided [RCV000675442]|not specified [RCV000243990] |
Chr12:48145196 [GRCh38] Chr12:48538979 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000266125]|not provided [RCV000509427]|not specified [RCV000248761] |
Chr12:48145699 [GRCh38] Chr12:48539482 [GRCh37] Chr12:12q13.11 |
benign|not provided |
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000631186]|not provided [RCV000675441]|not specified [RCV000251357] |
Chr12:48145125 [GRCh38] Chr12:48538908 [GRCh37] Chr12:12q13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000289.6(PFKM):c.428-39G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001533436]|not provided [RCV001675687]|not specified [RCV000253928] |
Chr12:48133276 [GRCh38] Chr12:48527059 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.306C>T (p.Ala102=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000374501]|not provided [RCV000675435]|not specified [RCV000249166] |
Chr12:48132936 [GRCh38] Chr12:48526719 [GRCh37] Chr12:12q13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000289.6(PFKM):c.1819-39A>G |
single nucleotide variant |
not provided [RCV001589230]|not specified [RCV000251669] |
Chr12:48143714 [GRCh38] Chr12:48537497 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1127+45G>A |
single nucleotide variant |
not specified [RCV000242417] |
Chr12:48139394 [GRCh38] Chr12:48533177 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000322166]|not provided [RCV000675434]|not specified [RCV000245226] |
Chr12:48132929 [GRCh38] Chr12:48526712 [GRCh37] Chr12:12q13.11 |
benign|likely benign |
NM_000289.6(PFKM):c.160-44A>G |
single nucleotide variant |
not provided [RCV001559762]|not specified [RCV000247748] |
Chr12:48131272 [GRCh38] Chr12:48525055 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1500+32C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001001669]|not provided [RCV000836221]|not specified [RCV000242921] |
Chr12:48141859 [GRCh38] Chr12:48535642 [GRCh37] Chr12:12q13.11 |
benign|likely benign |
NM_000289.6(PFKM):c.1342-14G>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000307386]|not provided [RCV000675438]|not specified [RCV000252753] |
Chr12:48141297 [GRCh38] Chr12:48535080 [GRCh37] Chr12:12q13.11 |
benign|likely benign |
NM_000289.6(PFKM):c.594-41A>G |
single nucleotide variant |
not provided [RCV001711530]|not specified [RCV000243097] |
Chr12:48134191 [GRCh38] Chr12:48527974 [GRCh37] Chr12:12q13.11 |
benign|likely benign |
NM_000289.6(PFKM):c.1308C>G (p.Val436=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001442383]|not specified [RCV000248010] |
Chr12:48140838 [GRCh38] Chr12:48534621 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.594-38G>A |
single nucleotide variant |
not provided [RCV000836219]|not specified [RCV000250504] |
Chr12:48134194 [GRCh38] Chr12:48527977 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.516C>T (p.Thr172=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000407369]|not provided [RCV000675436]|not specified [RCV000245750] |
Chr12:48133403 [GRCh38] Chr12:48527186 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.1880+32G>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001533440]|not provided [RCV000835757]|not specified [RCV000248238] |
Chr12:48143846 [GRCh38] Chr12:48537629 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.1127+43G>C |
single nucleotide variant |
not specified [RCV000250659] |
Chr12:48139392 [GRCh38] Chr12:48533175 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000396042]|not provided [RCV000756473] |
Chr12:48140868 [GRCh38] Chr12:48534651 [GRCh37] Chr12:12q13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000289.5(PFKM):c.-112T>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000323145]|not provided [RCV001612979] |
Chr12:48119303 [GRCh38] Chr12:48513086 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.2199-12A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000306016]|not provided [RCV001718628] |
Chr12:48145552 [GRCh38] Chr12:48539335 [GRCh37] Chr12:12q13.11 |
benign|likely benign|uncertain significance |
NM_000289.5(PFKM):c.-171C>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000270470]|not provided [RCV001672471] |
Chr12:48119244 [GRCh38] Chr12:48513027 [GRCh37] Chr12:12q13.11 |
benign|likely benign |
NM_000289.5(PFKM):c.-177G>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000274905]|not provided [RCV001508331] |
Chr12:48119238 [GRCh38] Chr12:48513021 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.638+15C>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000295502]|not specified [RCV000436568] |
Chr12:48134291 [GRCh38] Chr12:48528074 [GRCh37] Chr12:12q13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000289.6(PFKM):c.*503G>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000388201] |
Chr12:48146211 [GRCh38] Chr12:48539994 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.*622G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000296441] |
Chr12:48146330 [GRCh38] Chr12:48540113 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000364293] |
Chr12:48144111 [GRCh38] Chr12:48537894 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.*134G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000259886] |
Chr12:48145842 [GRCh38] Chr12:48539625 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.360C>T (p.Gly120=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000282483] |
Chr12:48132990 [GRCh38] Chr12:48526773 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000352719]|not provided [RCV003480590] |
Chr12:48135015 [GRCh38] Chr12:48528798 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000404608] |
Chr12:48137817 [GRCh38] Chr12:48531600 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1063-7C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000312118] |
Chr12:48139278 [GRCh38] Chr12:48533061 [GRCh37] Chr12:12q13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000289.6(PFKM):c.453G>A (p.Thr151=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000335148]|not specified [RCV000437761] |
Chr12:48133340 [GRCh38] Chr12:48527123 [GRCh37] Chr12:12q13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000289.6(PFKM):c.2201A>G (p.His734Arg) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000358403]|not provided [RCV003480591] |
Chr12:48145566 [GRCh38] Chr12:48539349 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.5(PFKM):c.-174G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000362895] |
Chr12:48119241 [GRCh38] Chr12:48513024 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.*3C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000318944] |
Chr12:48145711 [GRCh38] Chr12:48539494 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.846G>A (p.Leu282=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001277403] |
Chr12:48135293 [GRCh38] Chr12:48529076 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.5(PFKM):c.-176C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000329129] |
Chr12:48119239 [GRCh38] Chr12:48513022 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.5(PFKM):c.-64C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000380343] |
Chr12:48119351 [GRCh38] Chr12:48513134 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1242C>G (p.Gly414=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000364433] |
Chr12:48140772 [GRCh38] Chr12:48534555 [GRCh37] Chr12:12q13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000289.6(PFKM):c.*489T>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000317409] |
Chr12:48146197 [GRCh38] Chr12:48539980 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.2194T>G (p.Phe732Val) |
single nucleotide variant |
not provided [RCV000585555] |
Chr12:48145311 [GRCh38] Chr12:48539094 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.*98G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000375600] |
Chr12:48145806 [GRCh38] Chr12:48539589 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000631185]|not provided [RCV000592245] |
Chr12:48140833 [GRCh38] Chr12:48534616 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1993-7_1993-4del |
deletion |
not provided [RCV000416196] |
Chr12:48145024..48145027 [GRCh38] Chr12:48538807..48538810 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1413-2A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001065921]|not provided [RCV000733881] |
Chr12:48141738 [GRCh38] Chr12:48535521 [GRCh37] Chr12:12q13.11 |
pathogenic|likely pathogenic |
NM_000289.6(PFKM):c.5C>T (p.Thr2Ile) |
single nucleotide variant |
not provided [RCV000732676] |
Chr12:48122779 [GRCh38] Chr12:48516562 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.103A>C (p.Arg35=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001470788]|not specified [RCV000420711] |
Chr12:48130380 [GRCh38] Chr12:48524163 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1501-15C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001803744]|not specified [RCV000434373] |
Chr12:48141899 [GRCh38] Chr12:48535682 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2085C>T (p.Tyr695=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001465570]|not specified [RCV000427834] |
Chr12:48145123 [GRCh38] Chr12:48538906 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1063-19C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002521740]|not specified [RCV000418163] |
Chr12:48139266 [GRCh38] Chr12:48533049 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1401T>C (p.Leu467=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000908848]|not specified [RCV000422013] |
Chr12:48141370 [GRCh38] Chr12:48535153 [GRCh37] Chr12:12q13.11 |
benign|likely benign |
NM_000289.6(PFKM):c.594-18T>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002521769]|not specified [RCV000433570] |
Chr12:48134214 [GRCh38] Chr12:48527997 [GRCh37] Chr12:12q13.11 |
likely benign |
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)x3 |
copy number gain |
See cases [RCV000448835] |
Chr12:37857750..49791459 [GRCh37] Chr12:12q11-13.12 |
pathogenic |
NM_000289.6(PFKM):c.817C>A (p.Pro273Thr) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001835822]|not provided [RCV000485586] |
Chr12:48135012 [GRCh38] Chr12:48528795 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001274001]|not provided [RCV000485301] |
Chr12:48130392 [GRCh38] Chr12:48524175 [GRCh37] Chr12:12q13.11 |
pathogenic|likely pathogenic |
NM_001166686.2(PFKM):c.5A>T (p.His2Leu) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001284933]|not provided [RCV000509231] |
Chr12:48107378 [GRCh38] Chr12:48501161 [GRCh37] Chr12:12q13.11 |
benign|not provided |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_000289.6(PFKM):c.1260C>T (p.Arg420=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001403370]|not specified [RCV000603633] |
Chr12:48140790 [GRCh38] Chr12:48534573 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1637T>A (p.Leu546His) |
single nucleotide variant |
Inborn genetic diseases [RCV003250244] |
Chr12:48142050 [GRCh38] Chr12:48535833 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.809A>T (p.Asn270Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003281646] |
Chr12:48135004 [GRCh38] Chr12:48528787 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys) |
indel |
Glycogen storage disease, type VII [RCV000631187]|not provided [RCV002275121] |
Chr12:48140868..48140869 [GRCh38] Chr12:48534651..48534652 [GRCh37] Chr12:12q13.11 |
likely benign|uncertain significance |
NM_000289.6(PFKM):c.233A>T (p.Gln78Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003268792] |
Chr12:48131389 [GRCh38] Chr12:48525172 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1412+6T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002531639]|not specified [RCV000611211] |
Chr12:48141387 [GRCh38] Chr12:48535170 [GRCh37] Chr12:12q13.11 |
likely benign|uncertain significance |
NM_000289.6(PFKM):c.1191+6G>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002531708]|not specified [RCV000611528] |
Chr12:48139918 [GRCh38] Chr12:48533701 [GRCh37] Chr12:12q13.11 |
likely benign|uncertain significance |
NM_000289.6(PFKM):c.844-17T>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002064287]|not specified [RCV000612000] |
Chr12:48135274 [GRCh38] Chr12:48529057 [GRCh37] Chr12:12q13.11 |
benign|likely benign |
NM_000289.6(PFKM):c.2092+17C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002531181]|not specified [RCV000614861] |
Chr12:48145147 [GRCh38] Chr12:48538930 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.702A>T (p.Pro234=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000962254]|not provided [RCV001697400] |
Chr12:48134784 [GRCh38] Chr12:48528567 [GRCh37] Chr12:12q13.11 |
benign|likely benign |
NM_000289.6(PFKM):c.570T>C (p.Asp190=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001434188]|not specified [RCV000607167] |
Chr12:48133457 [GRCh38] Chr12:48527240 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1867G>A (p.Gly623Ser) |
single nucleotide variant |
not provided [RCV000675439] |
Chr12:48143801 [GRCh38] Chr12:48537584 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000670080] |
Chr12:48139349 [GRCh38] Chr12:48533132 [GRCh37] Chr12:12q13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000289.6(PFKM):c.1005A>G (p.Val335=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000686340] |
Chr12:48137789 [GRCh38] Chr12:48531572 [GRCh37] Chr12:12q13.11 |
likely benign|uncertain significance |
NC_000012.11:g.26370251_54361538inv |
inversion |
not specified [RCV000714265] |
Chr12:26370251..54361538 [GRCh37] Chr12:12p12.1-q13.13 |
uncertain significance |
NM_000289.6(PFKM):c.59T>C (p.Val20Ala) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000709984]|Inborn genetic diseases [RCV003165940]|not provided [RCV001759430] |
Chr12:48122833 [GRCh38] Chr12:48516616 [GRCh37] Chr12:12q13.11 |
uncertain significance|not provided |
NM_000289.6(PFKM):c.1191+1G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000696045] |
Chr12:48139913 [GRCh38] Chr12:48533696 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000705427] |
Chr12:48139331 [GRCh38] Chr12:48533114 [GRCh37] Chr12:12q13.11 |
uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_000289.6(PFKM):c.2121G>A (p.Ser707=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000941174] |
Chr12:48145238 [GRCh38] Chr12:48539021 [GRCh37] Chr12:12q13.11 |
likely benign|conflicting interpretations of pathogenicity |
NM_001166686.2(PFKM):c.-9-281A>T |
single nucleotide variant |
not provided [RCV001546294] |
Chr12:48107084 [GRCh38] Chr12:48500867 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1779C>G (p.Ala593=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001465890] |
Chr12:48142907 [GRCh38] Chr12:48536690 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1255G>A (p.Val419Ile) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001580759] |
Chr12:48140785 [GRCh38] Chr12:48534568 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.2078_2081dup (p.Ser694fs) |
microsatellite |
not provided [RCV000994909] |
Chr12:48145113..48145114 [GRCh38] Chr12:48538896..48538897 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.160-260A>G |
single nucleotide variant |
not provided [RCV001570053] |
Chr12:48131056 [GRCh38] Chr12:48524839 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.160-229A>G |
single nucleotide variant |
not provided [RCV001612364] |
Chr12:48131087 [GRCh38] Chr12:48524870 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000878987] |
Chr12:48122815 [GRCh38] Chr12:48516598 [GRCh37] Chr12:12q13.11 |
likely benign|conflicting interpretations of pathogenicity |
NM_000289.6(PFKM):c.1182G>A (p.Pro394=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000942090] |
Chr12:48139903 [GRCh38] Chr12:48533686 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1819-9C>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000975570] |
Chr12:48143744 [GRCh38] Chr12:48537527 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1818+10C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000982369] |
Chr12:48142956 [GRCh38] Chr12:48536739 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1881-8C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000981505] |
Chr12:48144038 [GRCh38] Chr12:48537821 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.318G>A (p.Val106=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000943724] |
Chr12:48132948 [GRCh38] Chr12:48526731 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1476C>T (p.Gly492=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000897540] |
Chr12:48141803 [GRCh38] Chr12:48535586 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2040C>T (p.Gly680=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000960475] |
Chr12:48145078 [GRCh38] Chr12:48538861 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001287107] |
Chr12:48140825 [GRCh38] Chr12:48534608 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.2219A>G (p.Gln740Arg) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001284981] |
Chr12:48145584 [GRCh38] Chr12:48539367 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.2003del (p.Pro668fs) |
deletion |
Glycogen storage disease [RCV000826149]|Glycogen storage disease, type VII [RCV000779105]|not provided [RCV002464314] |
Chr12:48145039 [GRCh38] Chr12:48538822 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.237+188G>A |
single nucleotide variant |
not provided [RCV000826598] |
Chr12:48131581 [GRCh38] Chr12:48525364 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.638+161C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001533437]|not provided [RCV000826600] |
Chr12:48134437 [GRCh38] Chr12:48528220 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.1464T>C (p.Phe488=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000920524] |
Chr12:48141791 [GRCh38] Chr12:48535574 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1063-6C>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000920593] |
Chr12:48139279 [GRCh38] Chr12:48533062 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1770C>T (p.Ala590=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001277405] |
Chr12:48142898 [GRCh38] Chr12:48536681 [GRCh37] Chr12:12q13.11 |
likely benign|uncertain significance |
NM_000289.6(PFKM):c.1342-7C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001474268] |
Chr12:48141304 [GRCh38] Chr12:48535087 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1192-5T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000943846] |
Chr12:48140717 [GRCh38] Chr12:48534500 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.292C>G (p.Arg98Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003267544] |
Chr12:48132922 [GRCh38] Chr12:48526705 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.639-85T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001533438]|not provided [RCV000835571] |
Chr12:48134636 [GRCh38] Chr12:48528419 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.1653+8C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001089134]|not provided [RCV000841531] |
Chr12:48142074 [GRCh38] Chr12:48535857 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_001166686.2(PFKM):c.-9-284C>G |
single nucleotide variant |
not provided [RCV000831362] |
Chr12:48107081 [GRCh38] Chr12:48500864 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.427+52G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001533435]|not provided [RCV000835755] |
Chr12:48133109 [GRCh38] Chr12:48526892 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.427+129T>G |
single nucleotide variant |
not provided [RCV000835756] |
Chr12:48133186 [GRCh38] Chr12:48526969 [GRCh37] Chr12:12q13.11 |
benign |
NC_000012.12:g.48143846G>C |
single nucleotide variant |
not provided [RCV000835757] |
Chr12:48537629 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000823397] |
Chr12:48145647 [GRCh38] Chr12:48539430 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1993-199A>G |
single nucleotide variant |
not provided [RCV000831843] |
Chr12:48144832 [GRCh38] Chr12:48538615 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.1929_1933del (p.Leu643_Tyr644insTer) |
deletion |
Glycogen storage disease, type VII [RCV000817843] |
Chr12:48144092..48144096 [GRCh38] Chr12:48537875..48537879 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.1191+125G>T |
single nucleotide variant |
not provided [RCV000836220] |
Chr12:48140037 [GRCh38] Chr12:48533820 [GRCh37] Chr12:12q13.11 |
likely benign |
NC_000012.12:g.48141859C>T |
single nucleotide variant |
not provided [RCV000836221] |
Chr12:48535642 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.594-300C>T |
single nucleotide variant |
not provided [RCV000828737] |
Chr12:48133932 [GRCh38] Chr12:48527715 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.593+255T>C |
single nucleotide variant |
not provided [RCV000832702] |
Chr12:48133735 [GRCh38] Chr12:48527518 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.594-295A>G |
single nucleotide variant |
not provided [RCV000832703] |
Chr12:48133937 [GRCh38] Chr12:48527720 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.237+201G>A |
single nucleotide variant |
not provided [RCV000826599] |
Chr12:48131594 [GRCh38] Chr12:48525377 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.335A>G (p.Asn112Ser) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000811535] |
Chr12:48132965 [GRCh38] Chr12:48526748 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.238-291A>G |
single nucleotide variant |
not provided [RCV000844585] |
Chr12:48132577 [GRCh38] Chr12:48526360 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.1192-217T>G |
single nucleotide variant |
not provided [RCV000826619] |
Chr12:48140505 [GRCh38] Chr12:48534288 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000800630]|Inborn genetic diseases [RCV002537125] |
Chr12:48142855 [GRCh38] Chr12:48536638 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1857T>C (p.Thr619=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001492160]|not provided [RCV000827404] |
Chr12:48143791 [GRCh38] Chr12:48537574 [GRCh37] Chr12:12q13.11 |
likely benign |
NC_000012.12:g.48134853T>G |
single nucleotide variant |
not provided [RCV000834934] |
Chr12:48528636 [GRCh37] Chr12:12q13.11 |
likely benign |
NC_000012.11:g.48501161A>T |
single nucleotide variant |
not provided [RCV000835568] |
Chr12:48501161 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.-8-254T>C |
single nucleotide variant |
not provided [RCV000835569] |
Chr12:48122513 [GRCh38] Chr12:48516296 [GRCh37] Chr12:12q13.11 |
benign |
NM_001166686.2(PFKM):c.205+123A>G |
single nucleotide variant |
not provided [RCV000835570] |
Chr12:48108317 [GRCh38] Chr12:48502100 [GRCh37] Chr12:12q13.11 |
benign |
NC_000012.12:g.48143841A>G |
single nucleotide variant |
not provided [RCV000835572] |
Chr12:48537624 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.-8-86G>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001533433]|not provided [RCV000835573] |
Chr12:48122681 [GRCh38] Chr12:48516464 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.459C>T (p.Ser153=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001277401]|not provided [RCV000842129] |
Chr12:48133346 [GRCh38] Chr12:48527129 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.237+73G>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001533434]|not provided [RCV000836218] |
Chr12:48131466 [GRCh38] Chr12:48525249 [GRCh37] Chr12:12q13.11 |
likely benign |
NC_000012.12:g.48134194G>A |
single nucleotide variant |
not provided [RCV000836219] |
Chr12:48527977 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_001166686.2(PFKM):c.82+173A>G |
single nucleotide variant |
not provided [RCV000826618] |
Chr12:48107628 [GRCh38] Chr12:48501411 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.*532A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001114585] |
Chr12:48146240 [GRCh38] Chr12:48540023 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1063-5C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000917293] |
Chr12:48139280 [GRCh38] Chr12:48533063 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.978G>A (p.Glu326=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000897461] |
Chr12:48137762 [GRCh38] Chr12:48531545 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.-8-457C>A |
single nucleotide variant |
not provided [RCV000843653] |
Chr12:48122310 [GRCh38] Chr12:48516093 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.160-295A>G |
single nucleotide variant |
not provided [RCV000843655] |
Chr12:48131021 [GRCh38] Chr12:48524804 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.1062+288T>A |
single nucleotide variant |
not provided [RCV000843658] |
Chr12:48138134 [GRCh38] Chr12:48531917 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.369T>G (p.Thr123=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001398465] |
Chr12:48132999 [GRCh38] Chr12:48526782 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.483G>A (p.Leu161=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001830857]|not provided [RCV000841369] |
Chr12:48133370 [GRCh38] Chr12:48527153 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.936+228C>A |
single nucleotide variant |
not provided [RCV000826601] |
Chr12:48135611 [GRCh38] Chr12:48529394 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.936+287C>T |
single nucleotide variant |
not provided [RCV000832704] |
Chr12:48135670 [GRCh38] Chr12:48529453 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001232301]|not provided [RCV000994908] |
Chr12:48130416 [GRCh38] Chr12:48524199 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.-17G>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001113123] |
Chr12:48119398 [GRCh38] Chr12:48513181 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.888G>A (p.Leu296=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001002422] |
Chr12:48135335 [GRCh38] Chr12:48529118 [GRCh37] Chr12:12q13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000289.6(PFKM):c.*411G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001113228] |
Chr12:48146119 [GRCh38] Chr12:48539902 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.936+1G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001215639] |
Chr12:48135384 [GRCh38] Chr12:48529167 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.634T>C (p.Cys212Arg) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001241631] |
Chr12:48134272 [GRCh38] Chr12:48528055 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1500+1G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001215088] |
Chr12:48141828 [GRCh38] Chr12:48535611 [GRCh37] Chr12:12q13.11 |
pathogenic|likely pathogenic |
NM_000289.6(PFKM):c.1114A>G (p.Lys372Glu) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001210553] |
Chr12:48139336 [GRCh38] Chr12:48533119 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.*668G>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001114587] |
Chr12:48146376 [GRCh38] Chr12:48540159 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1648T>C (p.Cys550Arg) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001111220] |
Chr12:48142061 [GRCh38] Chr12:48535844 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.780_783del (p.Ile260fs) |
deletion |
Glycogen storage disease, type VII [RCV003104691] |
Chr12:48134974..48134977 [GRCh38] Chr12:48528757..48528760 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.783T>C (p.Ile261=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003104692] |
Chr12:48134978 [GRCh38] Chr12:48528761 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1654-262T>G |
single nucleotide variant |
not provided [RCV001572246] |
Chr12:48142520 [GRCh38] Chr12:48536303 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.936+264G>A |
single nucleotide variant |
not provided [RCV001566393] |
Chr12:48135647 [GRCh38] Chr12:48529430 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.427+49C>T |
single nucleotide variant |
not provided [RCV001561015] |
Chr12:48133106 [GRCh38] Chr12:48526889 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.926A>G (p.Asp309Gly) |
single nucleotide variant |
not provided [RCV002284332] |
Chr12:48135373 [GRCh38] Chr12:48529156 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1412+114C>T |
single nucleotide variant |
not provided [RCV001590015] |
Chr12:48141495 [GRCh38] Chr12:48535278 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.160-305T>G |
single nucleotide variant |
not provided [RCV001671804] |
Chr12:48131011 [GRCh38] Chr12:48524794 [GRCh37] Chr12:12q13.11 |
benign |
NM_001267594.1(SENP1):c.-165T>A |
single nucleotide variant |
not provided [RCV001639948] |
Chr12:48106148 [GRCh38] Chr12:48499931 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.428-68T>C |
single nucleotide variant |
not provided [RCV001611660] |
Chr12:48133247 [GRCh38] Chr12:48527030 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.1992+37A>G |
single nucleotide variant |
not provided [RCV001665449] |
Chr12:48144194 [GRCh38] Chr12:48537977 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1654-266_1654-263del |
microsatellite |
not provided [RCV001620929] |
Chr12:48142509..48142512 [GRCh38] Chr12:48536292..48536295 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.428-128C>G |
single nucleotide variant |
not provided [RCV001559828] |
Chr12:48133187 [GRCh38] Chr12:48526970 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1521A>G (p.Glu507=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001395423] |
Chr12:48141934 [GRCh38] Chr12:48535717 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1275T>C (p.Ile425=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001474723] |
Chr12:48140805 [GRCh38] Chr12:48534588 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1254T>G (p.Ala418=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001405067] |
Chr12:48140784 [GRCh38] Chr12:48534567 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2265C>T (p.Tyr755=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000902144] |
Chr12:48145630 [GRCh38] Chr12:48539413 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.297C>T (p.Leu99=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001402450] |
Chr12:48132927 [GRCh38] Chr12:48526710 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1992+5G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001244559] |
Chr12:48144162 [GRCh38] Chr12:48537945 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001047427] |
Chr12:48132922 [GRCh38] Chr12:48526705 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.1320C>T (p.Phe440=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV000934896] |
Chr12:48140850 [GRCh38] Chr12:48534633 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2199-4G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001478664] |
Chr12:48145560 [GRCh38] Chr12:48539343 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1302C>G (p.Leu434=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002726201] |
Chr12:48140832 [GRCh38] Chr12:48534615 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1341+83C>T |
single nucleotide variant |
not provided [RCV001577311] |
Chr12:48140954 [GRCh38] Chr12:48534737 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_001354735.1(PFKM):c.53G>T (p.Arg18Leu) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001578663] |
Chr12:48107426 [GRCh38] Chr12:48501209 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.237+214G>A |
single nucleotide variant |
not provided [RCV001567579] |
Chr12:48131607 [GRCh38] Chr12:48525390 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.159+89C>A |
single nucleotide variant |
not provided [RCV001635920] |
Chr12:48130525 [GRCh38] Chr12:48524308 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.1341+161dup |
duplication |
not provided [RCV001676445] |
Chr12:48141031..48141032 [GRCh38] Chr12:48534814..48534815 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.1818+153del |
deletion |
not provided [RCV001641515] |
Chr12:48143099 [GRCh38] Chr12:48536882 [GRCh37] Chr12:12q13.11 |
benign |
NM_001267594.1(SENP1):c.-132G>A |
single nucleotide variant |
not provided [RCV001587636] |
Chr12:48106115 [GRCh38] Chr12:48499898 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.*163G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001113226] |
Chr12:48145871 [GRCh38] Chr12:48539654 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.*282C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001113227] |
Chr12:48145990 [GRCh38] Chr12:48539773 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.864A>G (p.Gly288=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001110465] |
Chr12:48135311 [GRCh38] Chr12:48529094 [GRCh37] Chr12:12q13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000289.6(PFKM):c.965T>C (p.Met322Thr) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001110466] |
Chr12:48137749 [GRCh38] Chr12:48531532 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1653+110T>G |
single nucleotide variant |
not provided [RCV001652151] |
Chr12:48142176 [GRCh38] Chr12:48535959 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.1654-159A>G |
single nucleotide variant |
not provided [RCV001609086] |
Chr12:48142623 [GRCh38] Chr12:48536406 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.2108A>T (p.Asn703Ile) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001580760] |
Chr12:48145225 [GRCh38] Chr12:48539008 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1127+217G>A |
single nucleotide variant |
not provided [RCV001696477] |
Chr12:48139566 [GRCh38] Chr12:48533349 [GRCh37] Chr12:12q13.11 |
benign |
NM_001166686.2(PFKM):c.205+55A>C |
single nucleotide variant |
not provided [RCV001566225] |
Chr12:48108249 [GRCh38] Chr12:48502032 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1063-265G>A |
single nucleotide variant |
not provided [RCV001583894] |
Chr12:48139020 [GRCh38] Chr12:48532803 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_001166686.2(PFKM):c.205+166G>A |
single nucleotide variant |
not provided [RCV001567414] |
Chr12:48108360 [GRCh38] Chr12:48502143 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.935T>C (p.Leu312Pro) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001056104] |
Chr12:48135382 [GRCh38] Chr12:48529165 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.140G>A (p.Arg47His) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001040102] |
Chr12:48130417 [GRCh38] Chr12:48524200 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.*564G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001114586] |
Chr12:48146272 [GRCh38] Chr12:48540055 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1115A>G (p.Lys372Arg) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001203122] |
Chr12:48139337 [GRCh38] Chr12:48533120 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.*452T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001113229] |
Chr12:48146160 [GRCh38] Chr12:48539943 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.514A>G (p.Thr172Ala) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001114502] |
Chr12:48133401 [GRCh38] Chr12:48527184 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001114503]|Inborn genetic diseases [RCV002556241]|not provided [RCV002261278] |
Chr12:48134804 [GRCh38] Chr12:48528587 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.468G>C (p.Leu156=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001277402] |
Chr12:48133355 [GRCh38] Chr12:48527138 [GRCh37] Chr12:12q13.11 |
benign|likely benign |
NM_000289.6(PFKM):c.1192-3_1192-2del |
microsatellite |
Glycogen storage disease, type VII [RCV001277404] |
Chr12:48140717..48140718 [GRCh38] Chr12:48534500..48534501 [GRCh37] Chr12:12q13.11 |
likely benign|uncertain significance |
NM_000289.6(PFKM):c.2274C>G (p.Asp758Glu) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001277406] |
Chr12:48145639 [GRCh38] Chr12:48539422 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1413-58C>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001286953]|not provided [RCV001556143] |
Chr12:48141682 [GRCh38] Chr12:48535465 [GRCh37] Chr12:12q13.11 |
benign|likely benign |
NM_000289.6(PFKM):c.564T>C (p.Ile188=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001461864]|not provided [RCV001311815] |
Chr12:48133451 [GRCh38] Chr12:48527234 [GRCh37] Chr12:12q13.11 |
likely benign |
NC_000012.11:g.(?_48240430)_(48539491_?)dup |
duplication |
not provided [RCV001319329] |
Chr12:48240430..48539491 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1500+9C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001415179] |
Chr12:48141836 [GRCh38] Chr12:48535619 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2241C>T (p.Pro747=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001413364] |
Chr12:48145606 [GRCh38] Chr12:48539389 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2211C>G (p.Pro737=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001423031] |
Chr12:48145576 [GRCh38] Chr12:48539359 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1417C>T (p.Leu473=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001422781] |
Chr12:48141744 [GRCh38] Chr12:48535527 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.834C>T (p.Asp278=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001422640] |
Chr12:48135029 [GRCh38] Chr12:48528812 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1127+7A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001433005] |
Chr12:48139356 [GRCh38] Chr12:48533139 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1285C>T (p.Gln429Ter) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001333355] |
Chr12:48140815 [GRCh38] Chr12:48534598 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.921C>T (p.Ala307=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001392777] |
Chr12:48135368 [GRCh38] Chr12:48529151 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.428-5G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001422902] |
Chr12:48133310 [GRCh38] Chr12:48527093 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1063-6C>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001286776] |
Chr12:48139279 [GRCh38] Chr12:48533062 [GRCh37] Chr12:12q13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000289.6(PFKM):c.2337C>T (p.Ala779=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001395475] |
Chr12:48145702 [GRCh38] Chr12:48539485 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.71G>C (p.Gly24Ala) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001277400] |
Chr12:48122845 [GRCh38] Chr12:48516628 [GRCh37] Chr12:12q13.11 |
uncertain significance |
GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3 |
copy number gain |
See cases [RCV001353185] |
Chr12:37873948..49578619 [GRCh37] Chr12:12q11-13.12 |
likely pathogenic |
NM_000289.6(PFKM):c.327G>A (p.Gly109=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001395210] |
Chr12:48132957 [GRCh38] Chr12:48526740 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.747+10C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001401920] |
Chr12:48134839 [GRCh38] Chr12:48528622 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1980T>A (p.Gly660=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001505645] |
Chr12:48144145 [GRCh38] Chr12:48537928 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1416T>C (p.Thr472=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001505653] |
Chr12:48141743 [GRCh38] Chr12:48535526 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1596del (p.Asn532fs) |
deletion |
not provided [RCV001508333] |
Chr12:48142009 [GRCh38] Chr12:48535792 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1224G>C (p.Val408=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001487234] |
Chr12:48140754 [GRCh38] Chr12:48534537 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1311T>C (p.His437=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001473347] |
Chr12:48140841 [GRCh38] Chr12:48534624 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer) |
deletion |
Glycogen storage disease, type VII [RCV001380454] |
Chr12:48142020 [GRCh38] Chr12:48535803 [GRCh37] Chr12:12q13.11 |
pathogenic|likely pathogenic |
NM_000289.6(PFKM):c.1127+9A>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001482023] |
Chr12:48139358 [GRCh38] Chr12:48533141 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.912G>A (p.Thr304=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001504636] |
Chr12:48135359 [GRCh38] Chr12:48529142 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001385034] |
Chr12:48132928 [GRCh38] Chr12:48526711 [GRCh37] Chr12:12q13.11 |
pathogenic|likely pathogenic |
NM_000289.6(PFKM):c.1659T>C (p.Cys553=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001488131] |
Chr12:48142787 [GRCh38] Chr12:48536570 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1956C>T (p.Phe652=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001417650] |
Chr12:48144121 [GRCh38] Chr12:48537904 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.428-6T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001438865] |
Chr12:48133309 [GRCh38] Chr12:48527092 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1599C>A (p.Val533=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001441604] |
Chr12:48142012 [GRCh38] Chr12:48535795 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2233C>T (p.Leu745=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001441783] |
Chr12:48145598 [GRCh38] Chr12:48539381 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.702A>G (p.Pro234=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001430984] |
Chr12:48134784 [GRCh38] Chr12:48528567 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1993-6C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001452160] |
Chr12:48145025 [GRCh38] Chr12:48538808 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1161T>C (p.Leu387=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001496925] |
Chr12:48139882 [GRCh38] Chr12:48533665 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1032G>A (p.Val344=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001502933] |
Chr12:48137816 [GRCh38] Chr12:48531599 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.597C>T (p.His199=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001488960] |
Chr12:48134235 [GRCh38] Chr12:48528018 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2097G>C (p.Arg699=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001491543] |
Chr12:48145214 [GRCh38] Chr12:48538997 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1374C>G (p.Gly458=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001500692]|not provided [RCV003389879] |
Chr12:48141343 [GRCh38] Chr12:48535126 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.222G>A (p.Ser74=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001483763] |
Chr12:48131378 [GRCh38] Chr12:48525161 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.36G>A (p.Leu12=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001474389] |
Chr12:48122810 [GRCh38] Chr12:48516593 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1020T>C (p.Gly340=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001483922] |
Chr12:48137804 [GRCh38] Chr12:48531587 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.711C>T (p.Asp237=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001439628] |
Chr12:48134793 [GRCh38] Chr12:48528576 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1128-4A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001486911] |
Chr12:48139845 [GRCh38] Chr12:48533628 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.552G>T (p.Arg184=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001480642] |
Chr12:48133439 [GRCh38] Chr12:48527222 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1044C>G (p.Leu348=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001501441] |
Chr12:48137828 [GRCh38] Chr12:48531611 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.237+10A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001398221] |
Chr12:48131403 [GRCh38] Chr12:48525186 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1127+1G>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001379631] |
Chr12:48139350 [GRCh38] Chr12:48533133 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.627C>G (p.Gly209=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001498569] |
Chr12:48134265 [GRCh38] Chr12:48528048 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1200G>A (p.Ser400=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001488050] |
Chr12:48140730 [GRCh38] Chr12:48534513 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1212T>C (p.Ala404=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001474829] |
Chr12:48140742 [GRCh38] Chr12:48534525 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.192C>T (p.His64=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001398618] |
Chr12:48131348 [GRCh38] Chr12:48525131 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.477G>T (p.Val159=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001486380] |
Chr12:48133364 [GRCh38] Chr12:48527147 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.21T>C (p.His7=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001469126] |
Chr12:48122795 [GRCh38] Chr12:48516578 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1063-6C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001474868] |
Chr12:48139279 [GRCh38] Chr12:48533062 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.748-6A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001429811] |
Chr12:48134937 [GRCh38] Chr12:48528720 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.937-8T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001432605] |
Chr12:48137713 [GRCh38] Chr12:48531496 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1347G>A (p.Glu449=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001434207] |
Chr12:48141316 [GRCh38] Chr12:48535099 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.471C>T (p.Asn157=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001407198] |
Chr12:48133358 [GRCh38] Chr12:48527141 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1503T>A (p.Ala501=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001448926] |
Chr12:48141916 [GRCh38] Chr12:48535699 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2190A>G (p.Thr730=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001410071] |
Chr12:48145307 [GRCh38] Chr12:48539090 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1908C>T (p.Thr636=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001426682] |
Chr12:48144073 [GRCh38] Chr12:48537856 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.129C>T (p.Phe43=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001402690] |
Chr12:48130406 [GRCh38] Chr12:48524189 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.594-4G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001449503] |
Chr12:48134228 [GRCh38] Chr12:48528011 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1128-10C>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001415895] |
Chr12:48139839 [GRCh38] Chr12:48533622 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1127+10T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001439551] |
Chr12:48139359 [GRCh38] Chr12:48533142 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1932C>T (p.Tyr644=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001426768] |
Chr12:48144097 [GRCh38] Chr12:48537880 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2034G>A (p.Lys678=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001411033] |
Chr12:48145072 [GRCh38] Chr12:48538855 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.165T>A (p.Tyr55Ter) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001387775] |
Chr12:48131321 [GRCh38] Chr12:48525104 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.1413-64A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001387777] |
Chr12:48141676 [GRCh38] Chr12:48535459 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.1501-12TCT[2] |
microsatellite |
Glycogen storage disease, type VII [RCV001445474] |
Chr12:48141902..48141904 [GRCh38] Chr12:48535685..48535687 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.138C>T (p.Ala46=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001445487] |
Chr12:48130415 [GRCh38] Chr12:48524198 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.543C>T (p.Ala181=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001425807] |
Chr12:48133430 [GRCh38] Chr12:48527213 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.66C>G (p.Thr22=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001411609] |
Chr12:48122840 [GRCh38] Chr12:48516623 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1501-2del |
deletion |
Glycogen storage disease, type VII [RCV001377683] |
Chr12:48141912 [GRCh38] Chr12:48535695 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1014C>G (p.Leu338=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001435554] |
Chr12:48137798 [GRCh38] Chr12:48531581 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.309C>T (p.Tyr103=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001435671] |
Chr12:48132939 [GRCh38] Chr12:48526722 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.774C>T (p.Asn258=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001454329] |
Chr12:48134969 [GRCh38] Chr12:48528752 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1155C>T (p.Tyr385=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001472879] |
Chr12:48139876 [GRCh38] Chr12:48533659 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1221C>T (p.Asn407=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001493797] |
Chr12:48140751 [GRCh38] Chr12:48534534 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1611C>T (p.Asp537=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001468955] |
Chr12:48142024 [GRCh38] Chr12:48535807 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2092+7G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001469024] |
Chr12:48145137 [GRCh38] Chr12:48538920 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1834C>T (p.Leu612=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001451859] |
Chr12:48143768 [GRCh38] Chr12:48537551 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.859C>T (p.Leu287=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001503479] |
Chr12:48135306 [GRCh38] Chr12:48529089 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.159+10G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001452146] |
Chr12:48130446 [GRCh38] Chr12:48524229 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.86-54G>T |
single nucleotide variant |
not provided [RCV001671515] |
Chr12:48130309 [GRCh38] Chr12:48524092 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.639-145C>T |
single nucleotide variant |
not provided [RCV001615610] |
Chr12:48134576 [GRCh38] Chr12:48528359 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.1077C>G (p.Thr359=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001500754] |
Chr12:48139299 [GRCh38] Chr12:48533082 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.333C>T (p.Thr111=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001466718] |
Chr12:48132963 [GRCh38] Chr12:48526746 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.937-4G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001456190] |
Chr12:48137717 [GRCh38] Chr12:48531500 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1647C>A (p.Ile549=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001463793] |
Chr12:48142060 [GRCh38] Chr12:48535843 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2199-9C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001481081] |
Chr12:48145555 [GRCh38] Chr12:48539338 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.937-6C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001453205] |
Chr12:48137715 [GRCh38] Chr12:48531498 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.844-8C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001481075] |
Chr12:48135283 [GRCh38] Chr12:48529066 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1587C>T (p.Val529=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001453468] |
Chr12:48142000 [GRCh38] Chr12:48535783 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1302C>T (p.Leu434=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001456923] |
Chr12:48140832 [GRCh38] Chr12:48534615 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2292T>C (p.His764=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001464286] |
Chr12:48145657 [GRCh38] Chr12:48539440 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1701G>A (p.Val567=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001472063] |
Chr12:48142829 [GRCh38] Chr12:48536612 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.927C>T (p.Asp309=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001457012] |
Chr12:48135374 [GRCh38] Chr12:48529157 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1341+8del |
deletion |
Glycogen storage disease, type VII [RCV001520515] |
Chr12:48140876 [GRCh38] Chr12:48534659 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.2092+9G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001486462] |
Chr12:48145139 [GRCh38] Chr12:48538922 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1041C>T (p.Pro347=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001470753] |
Chr12:48137825 [GRCh38] Chr12:48531608 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1004T>C (p.Val335Ala) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001520921] |
Chr12:48137788 [GRCh38] Chr12:48531571 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.495T>A (p.Ile165=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001469318] |
Chr12:48133382 [GRCh38] Chr12:48527165 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1192-7T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001505029] |
Chr12:48140715 [GRCh38] Chr12:48534498 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.987A>T (p.Pro329=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001452963] |
Chr12:48137771 [GRCh38] Chr12:48531554 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1617C>T (p.Ser539=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001452976] |
Chr12:48142030 [GRCh38] Chr12:48535813 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2253C>A (p.Ile751=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001496399] |
Chr12:48145618 [GRCh38] Chr12:48539401 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.870C>T (p.Asp290=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001404251] |
Chr12:48135317 [GRCh38] Chr12:48529100 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2127T>C (p.Cys709=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001454027] |
Chr12:48145244 [GRCh38] Chr12:48539027 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.825C>T (p.Thr275=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001500737] |
Chr12:48135020 [GRCh38] Chr12:48528803 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1503T>G (p.Ala501=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001420032] |
Chr12:48141916 [GRCh38] Chr12:48535699 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.593+10C>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001434274] |
Chr12:48133490 [GRCh38] Chr12:48527273 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1104C>T (p.Asp368=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001456073] |
Chr12:48139326 [GRCh38] Chr12:48533109 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1164A>G (p.Leu388=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001434769] |
Chr12:48139885 [GRCh38] Chr12:48533668 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.159+1G>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001378843] |
Chr12:48130437 [GRCh38] Chr12:48524220 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.2092+9G>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001459599] |
Chr12:48145139 [GRCh38] Chr12:48538922 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.132C>T (p.Thr44=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001402526] |
Chr12:48130409 [GRCh38] Chr12:48524192 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.366C>T (p.Leu122=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001450347] |
Chr12:48132996 [GRCh38] Chr12:48526779 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.5(PFKM):c.-65C>A |
single nucleotide variant |
not provided [RCV001508332] |
Chr12:48119350 [GRCh38] Chr12:48513133 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.204C>T (p.Ala68=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001497301] |
Chr12:48131360 [GRCh38] Chr12:48525143 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1443C>T (p.Ile481=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001501248] |
Chr12:48141770 [GRCh38] Chr12:48535553 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2322G>A (p.Arg774=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001485513] |
Chr12:48145687 [GRCh38] Chr12:48539470 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1467C>T (p.Asn489=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001427067] |
Chr12:48141794 [GRCh38] Chr12:48535577 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1342-9del |
deletion |
Glycogen storage disease, type VII [RCV001437451] |
Chr12:48141302 [GRCh38] Chr12:48535085 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.675C>T (p.Ala225=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001477336] |
Chr12:48134757 [GRCh38] Chr12:48528540 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.262C>T (p.Arg88Trp) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002541237]|not provided [RCV001786118] |
Chr12:48132892 [GRCh38] Chr12:48526675 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_001354741.2(PFKM):c.-81+2015G>A |
single nucleotide variant |
not provided [RCV001770950] |
Chr12:48107434 [GRCh38] Chr12:48501217 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_001354735.1(PFKM):c.226C>A (p.Gln76Lys) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001788885] |
Chr12:48118502 [GRCh38] Chr12:48512285 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.639-10C>G |
single nucleotide variant |
not provided [RCV001761278] |
Chr12:48134711 [GRCh38] Chr12:48528494 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.52A>G (p.Ile18Val) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002544106]|not provided [RCV001761271] |
Chr12:48122826 [GRCh38] Chr12:48516609 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1043T>C (p.Leu348Pro) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001802373] |
Chr12:48137827 [GRCh38] Chr12:48531610 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_001354741.2(PFKM):c.-81+1955A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001802614] |
Chr12:48107374 [GRCh38] Chr12:48501157 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.-9+86A>G |
single nucleotide variant |
not provided [RCV001787535] |
Chr12:48119492 [GRCh38] Chr12:48513275 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.606A>G (p.Thr202=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002077268]|not provided [RCV001815740] |
Chr12:48134244 [GRCh38] Chr12:48528027 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.237+1G>T |
single nucleotide variant |
Peroxisomal biogenesis disorder 3b [RCV000008219] |
Chr12:48131394 [GRCh38] Chr12:48525177 [GRCh37] Chr17 Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.1500+29C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001802734] |
Chr12:48141856 [GRCh38] Chr12:48535639 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.857G>A (p.Arg286His) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001802642] |
Chr12:48135304 [GRCh38] Chr12:48529087 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1925A>G (p.Asn642Ser) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001803477]|Inborn genetic diseases [RCV002544391] |
Chr12:48144090 [GRCh38] Chr12:48537873 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1704del (p.Phe568fs) |
deletion |
Glycogen storage disease, type VII [RCV001950036] |
Chr12:48142830 [GRCh38] Chr12:48536613 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.216C>T (p.Ser72=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002043091] |
Chr12:48131372 [GRCh38] Chr12:48525155 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.237+1G>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002002423] |
Chr12:48131394 [GRCh38] Chr12:48525177 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.74del (p.Gly25fs) |
deletion |
Glycogen storage disease, type VII [RCV001893655] |
Chr12:48122847 [GRCh38] Chr12:48516630 [GRCh37] Chr12:12q13.11 |
pathogenic |
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459) |
copy number gain |
not specified [RCV002052988] |
Chr12:37857750..49791459 [GRCh37] Chr12:12q11-13.12 |
pathogenic |
NM_000289.6(PFKM):c.289G>A (p.Gly97Arg) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001966341] |
Chr12:48132919 [GRCh38] Chr12:48526702 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.160-11G>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002024159] |
Chr12:48131305 [GRCh38] Chr12:48525088 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.874del (p.Arg292fs) |
deletion |
Glycogen storage disease, type VII [RCV001949263] |
Chr12:48135319 [GRCh38] Chr12:48529102 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.1062+2T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001983899] |
Chr12:48137848 [GRCh38] Chr12:48531631 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1761del (p.Ala588fs) |
deletion |
Glycogen storage disease, type VII [RCV001926361] |
Chr12:48142889 [GRCh38] Chr12:48536672 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.646dup (p.Ala216fs) |
duplication |
Glycogen storage disease, type VII [RCV001886569] |
Chr12:48134726..48134727 [GRCh38] Chr12:48528509..48528510 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.1514G>T (p.Gly505Val) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001975344] |
Chr12:48141927 [GRCh38] Chr12:48535710 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1191+12T>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001997458] |
Chr12:48139924 [GRCh38] Chr12:48533707 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1663C>T (p.Arg555Cys) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001941034] |
Chr12:48142791 [GRCh38] Chr12:48536574 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.2100C>G (p.Ile700Met) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001935711] |
Chr12:48145217 [GRCh38] Chr12:48539000 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.2075_2076del (p.Lys692fs) |
deletion |
Glycogen storage disease, type VII [RCV001950814] |
Chr12:48145112..48145113 [GRCh38] Chr12:48538895..48538896 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.500A>G (p.Asn167Ser) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001952304] |
Chr12:48133387 [GRCh38] Chr12:48527170 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.320A>G (p.Lys107Arg) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001995313] |
Chr12:48132950 [GRCh38] Chr12:48526733 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.800T>C (p.Ile267Thr) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001916594] |
Chr12:48134995 [GRCh38] Chr12:48528778 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001906465] |
Chr12:48140824 [GRCh38] Chr12:48534607 [GRCh37] Chr12:12q13.11 |
pathogenic|likely pathogenic |
NM_000289.6(PFKM):c.1338del (p.Gln447fs) |
deletion |
Glycogen storage disease, type VII [RCV001960493] |
Chr12:48140865 [GRCh38] Chr12:48534648 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001939132] |
Chr12:48134818 [GRCh38] Chr12:48528601 [GRCh37] Chr12:12q13.11 |
pathogenic|likely pathogenic |
NM_000289.6(PFKM):c.2308A>G (p.Ile770Val) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001931180] |
Chr12:48145673 [GRCh38] Chr12:48539456 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.2173G>A (p.Glu725Lys) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001999388] |
Chr12:48145290 [GRCh38] Chr12:48539073 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1540C>A (p.Gln514Lys) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001939825] |
Chr12:48141953 [GRCh38] Chr12:48535736 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.381_385dup (p.Arg129fs) |
duplication |
Glycogen storage disease, type VII [RCV001879110] |
Chr12:48133009..48133010 [GRCh38] Chr12:48526792..48526793 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs) |
microsatellite |
Glycogen storage disease, type VII [RCV001950953] |
Chr12:48145114..48145115 [GRCh38] Chr12:48538897..48538898 [GRCh37] Chr12:12q13.11 |
pathogenic|likely pathogenic |
NM_000289.6(PFKM):c.2338G>A (p.Val780Ile) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001878266] |
Chr12:48145703 [GRCh38] Chr12:48539486 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.2096G>A (p.Arg699Gln) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV001919134] |
Chr12:48145213 [GRCh38] Chr12:48538996 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1653+8C>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002210360] |
Chr12:48142074 [GRCh38] Chr12:48535857 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1017T>C (p.Ser339=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002165007] |
Chr12:48137801 [GRCh38] Chr12:48531584 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1875G>A (p.Val625=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002105107] |
Chr12:48143809 [GRCh38] Chr12:48537592 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1653+10T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002128389] |
Chr12:48142076 [GRCh38] Chr12:48535859 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1506C>T (p.Tyr502=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002190715] |
Chr12:48141919 [GRCh38] Chr12:48535702 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1127+8G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002209509] |
Chr12:48139357 [GRCh38] Chr12:48533140 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.993C>G (p.Thr331=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002128727] |
Chr12:48137777 [GRCh38] Chr12:48531560 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.891G>T (p.Gly297=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002207594] |
Chr12:48135338 [GRCh38] Chr12:48529121 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.453G>C (p.Thr151=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002208138] |
Chr12:48133340 [GRCh38] Chr12:48527123 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2236A>C (p.Arg746=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002189506] |
Chr12:48145601 [GRCh38] Chr12:48539384 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1262C>T (p.Ser421Phe) |
single nucleotide variant |
not provided [RCV002211219] |
Chr12:48140792 [GRCh38] Chr12:48534575 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.238-17T>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002169811] |
Chr12:48132851 [GRCh38] Chr12:48526634 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.627C>A (p.Gly209=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002186832] |
Chr12:48134265 [GRCh38] Chr12:48528048 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1884T>C (p.Asn628=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002128850] |
Chr12:48144049 [GRCh38] Chr12:48537832 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1746C>T (p.Thr582=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002106867] |
Chr12:48142874 [GRCh38] Chr12:48536657 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2093-5T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002071262] |
Chr12:48145205 [GRCh38] Chr12:48538988 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.546G>A (p.Leu182=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002164961] |
Chr12:48133433 [GRCh38] Chr12:48527216 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.375T>C (p.Ala125=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002085107] |
Chr12:48133005 [GRCh38] Chr12:48526788 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1632A>G (p.Thr544=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002144880] |
Chr12:48142045 [GRCh38] Chr12:48535828 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1023C>T (p.Asn341=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002185764] |
Chr12:48137807 [GRCh38] Chr12:48531590 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.638+20C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002145854] |
Chr12:48134296 [GRCh38] Chr12:48528079 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1293C>T (p.Asn431=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002116552] |
Chr12:48140823 [GRCh38] Chr12:48534606 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1563A>G (p.Pro521=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002146438] |
Chr12:48141976 [GRCh38] Chr12:48535759 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.171C>A (p.Gly57=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002173278] |
Chr12:48131327 [GRCh38] Chr12:48525110 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.534T>C (p.Thr178=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002080791] |
Chr12:48133421 [GRCh38] Chr12:48527204 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.702A>C (p.Pro234=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002211673] |
Chr12:48134784 [GRCh38] Chr12:48528567 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.354T>C (p.Gly118=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002193303] |
Chr12:48132984 [GRCh38] Chr12:48526767 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2268G>A (p.Glu756=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002152713] |
Chr12:48145633 [GRCh38] Chr12:48539416 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1413-5A>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002212507] |
Chr12:48141735 [GRCh38] Chr12:48535518 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.732T>C (p.Cys244=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002105155]|not provided [RCV003395389] |
Chr12:48134814 [GRCh38] Chr12:48528597 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.844-6C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002094217] |
Chr12:48135285 [GRCh38] Chr12:48529068 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.593+8G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002215827] |
Chr12:48133488 [GRCh38] Chr12:48527271 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.428-10T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002149959] |
Chr12:48133305 [GRCh38] Chr12:48527088 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1063-18G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002197134] |
Chr12:48139267 [GRCh38] Chr12:48533050 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1412+9C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002093752] |
Chr12:48141390 [GRCh38] Chr12:48535173 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.291A>C (p.Gly97=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002133073] |
Chr12:48132921 [GRCh38] Chr12:48526704 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2166A>G (p.Pro722=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002127546] |
Chr12:48145283 [GRCh38] Chr12:48539066 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2325C>T (p.Ser775=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002195362] |
Chr12:48145690 [GRCh38] Chr12:48539473 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1113G>A (p.Leu371=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002149200] |
Chr12:48139335 [GRCh38] Chr12:48533118 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.123T>C (p.Gly41=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002089771] |
Chr12:48130400 [GRCh38] Chr12:48524183 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1149G>A (p.Glu383=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002191531] |
Chr12:48139870 [GRCh38] Chr12:48533653 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2286A>G (p.Ser762=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002077639] |
Chr12:48145651 [GRCh38] Chr12:48539434 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.573C>T (p.Ala191=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002089920] |
Chr12:48133460 [GRCh38] Chr12:48527243 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.844-4T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002212999] |
Chr12:48135287 [GRCh38] Chr12:48529070 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2334T>A (p.Ala778=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002114948] |
Chr12:48145699 [GRCh38] Chr12:48539482 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.687T>C (p.Phe229=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002105105] |
Chr12:48134769 [GRCh38] Chr12:48528552 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2277G>A (p.Leu759=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002138928] |
Chr12:48145642 [GRCh38] Chr12:48539425 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.238-9C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002119436] |
Chr12:48132859 [GRCh38] Chr12:48526642 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2092+8G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002156181] |
Chr12:48145138 [GRCh38] Chr12:48538921 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.987A>G (p.Pro329=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002179529] |
Chr12:48137771 [GRCh38] Chr12:48531554 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1761A>G (p.Ala587=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002139504] |
Chr12:48142889 [GRCh38] Chr12:48536672 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1941G>A (p.Glu647=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002200509] |
Chr12:48144106 [GRCh38] Chr12:48537889 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1626T>C (p.Ala542=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002102603] |
Chr12:48142039 [GRCh38] Chr12:48535822 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.777C>T (p.Ile259=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002155324] |
Chr12:48134972 [GRCh38] Chr12:48528755 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1995T>C (p.Gly665=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002201528] |
Chr12:48145033 [GRCh38] Chr12:48538816 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.747+9A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002199920] |
Chr12:48134838 [GRCh38] Chr12:48528621 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1653+9C>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002216833] |
Chr12:48142075 [GRCh38] Chr12:48535858 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1029T>A (p.Ala343=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002143173] |
Chr12:48137813 [GRCh38] Chr12:48531596 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.507C>T (p.Phe169=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002156434] |
Chr12:48133394 [GRCh38] Chr12:48527177 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.85+9G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002163733] |
Chr12:48122868 [GRCh38] Chr12:48516651 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2093-9T>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002200493] |
Chr12:48145201 [GRCh38] Chr12:48538984 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.93T>C (p.Asn31=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002101106] |
Chr12:48130370 [GRCh38] Chr12:48524153 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.936+10T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002164463] |
Chr12:48135393 [GRCh38] Chr12:48529176 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2337C>G (p.Ala779=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002176675] |
Chr12:48145702 [GRCh38] Chr12:48539485 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.85+8G>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002082776] |
Chr12:48122867 [GRCh38] Chr12:48516650 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.108T>C (p.Ala36=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002218148] |
Chr12:48130385 [GRCh38] Chr12:48524168 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1413-20C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002163064] |
Chr12:48141720 [GRCh38] Chr12:48535503 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1128-10C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002102122] |
Chr12:48139839 [GRCh38] Chr12:48533622 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1127+13C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002135824] |
Chr12:48139362 [GRCh38] Chr12:48533145 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.594-7C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002081733] |
Chr12:48134225 [GRCh38] Chr12:48528008 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.222G>T (p.Ser74=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002220860] |
Chr12:48131378 [GRCh38] Chr12:48525161 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.666C>T (p.Ser222=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002098885] |
Chr12:48134748 [GRCh38] Chr12:48528531 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1599C>T (p.Val533=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002179828] |
Chr12:48142012 [GRCh38] Chr12:48535795 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1192-16G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002101439] |
Chr12:48140706 [GRCh38] Chr12:48534489 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1455A>C (p.Ile485=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002201620] |
Chr12:48141782 [GRCh38] Chr12:48535565 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.384C>T (p.Phe128=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002221007] |
Chr12:48133014 [GRCh38] Chr12:48526797 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.393G>A (p.Glu131=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002139815] |
Chr12:48133023 [GRCh38] Chr12:48526806 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2217A>G (p.Glu739=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002219407] |
Chr12:48145582 [GRCh38] Chr12:48539365 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.903G>A (p.Arg301=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002179804] |
Chr12:48135350 [GRCh38] Chr12:48529133 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.186A>C (p.Gly62=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002141289] |
Chr12:48131342 [GRCh38] Chr12:48525125 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1158G>A (p.Lys386=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002099262] |
Chr12:48139879 [GRCh38] Chr12:48533662 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.936+46C>T |
single nucleotide variant |
not provided [RCV002221737] |
|
likely benign |
NM_000289.6(PFKM):c.748-4C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002162989] |
Chr12:48134939 [GRCh38] Chr12:48528722 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.438A>T (p.Thr146=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002201008] |
Chr12:48133325 [GRCh38] Chr12:48527108 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.735C>T (p.Arg245=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002219968] |
Chr12:48134817 [GRCh38] Chr12:48528600 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.276T>C (p.Phe92=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002119252] |
Chr12:48132906 [GRCh38] Chr12:48526689 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2019G>A (p.Arg673=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002142761] |
Chr12:48145057 [GRCh38] Chr12:48538840 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1656del (p.Cys553fs) |
deletion |
Glycogen storage disease, type VII [RCV003112259] |
Chr12:48142783 [GRCh38] Chr12:48536566 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.1412+1G>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003115091] |
Chr12:48141382 [GRCh38] Chr12:48535165 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_001354741.2(PFKM):c.-81+1966C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003120349] |
Chr12:48107385 [GRCh38] Chr12:48501168 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1060G>A (p.Val354Met) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003095914]|not provided [RCV002261936] |
Chr12:48137844 [GRCh38] Chr12:48531627 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.2314C>T (p.Arg772Trp) |
single nucleotide variant |
not provided [RCV002261939] |
Chr12:48145679 [GRCh38] Chr12:48539462 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1063-10C>G |
single nucleotide variant |
not provided [RCV002261937] |
Chr12:48139275 [GRCh38] Chr12:48533058 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.733C>T (p.Arg245Cys) |
single nucleotide variant |
not specified [RCV002266263] |
Chr12:48134815 [GRCh38] Chr12:48528598 [GRCh37] Chr12:12q13.11 |
uncertain significance |
GRCh37/hg19 12q12-13.11(chr12:44661149-48921204)x1 |
copy number loss |
not provided [RCV002291537] |
Chr12:44661149..48921204 [GRCh37] Chr12:12q12-13.11 |
pathogenic |
NM_000289.6(PFKM):c.1124G>T (p.Gly375Val) |
single nucleotide variant |
not provided [RCV002261938] |
Chr12:48139346 [GRCh38] Chr12:48533129 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1226G>T (p.Gly409Val) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002297289] |
Chr12:48140756 [GRCh38] Chr12:48534539 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1192-6G>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002613529] |
Chr12:48140716 [GRCh38] Chr12:48534499 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1859_1860del (p.Val620fs) |
microsatellite |
Glycogen storage disease, type VII [RCV002309596] |
Chr12:48143791..48143792 [GRCh38] Chr12:48537574..48537575 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1459A>T (p.Lys487Ter) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002309600] |
Chr12:48141786 [GRCh38] Chr12:48535569 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1358G>A (p.Trp453Ter) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002309642] |
Chr12:48141327 [GRCh38] Chr12:48535110 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002309296] |
Chr12:48140851 [GRCh38] Chr12:48534634 [GRCh37] Chr12:12q13.11 |
pathogenic|likely pathogenic |
NM_000289.6(PFKM):c.1876_1877del (p.Leu626fs) |
deletion |
Glycogen storage disease, type VII [RCV002309911] |
Chr12:48143810..48143811 [GRCh38] Chr12:48537593..48537594 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1721del (p.Gly574fs) |
deletion |
Glycogen storage disease, type VII [RCV002310255] |
Chr12:48142847 [GRCh38] Chr12:48536630 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.399_400del (p.Ser133fs) |
deletion |
Glycogen storage disease, type VII [RCV002310104] |
Chr12:48133028..48133029 [GRCh38] Chr12:48526811..48526812 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.204_207delinsTG (p.Thr69fs) |
indel |
Glycogen storage disease, type VII [RCV002308039] |
Chr12:48131360..48131363 [GRCh38] Chr12:48525143..48525146 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1199C>A (p.Ser400Ter) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002308102] |
Chr12:48140729 [GRCh38] Chr12:48534512 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1227_1228del (p.Ala410fs) |
deletion |
Glycogen storage disease, type VII [RCV002310032] |
Chr12:48140754..48140755 [GRCh38] Chr12:48534537..48534538 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.582del (p.Thr195fs) |
deletion |
Glycogen storage disease, type VII [RCV002308427] |
Chr12:48133468 [GRCh38] Chr12:48527251 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1385_1386insTCCTGCTATAG (p.Gln462fs) |
insertion |
Glycogen storage disease, type VII [RCV002306838] |
Chr12:48141354..48141355 [GRCh38] Chr12:48535137..48535138 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.374C>A (p.Ala125Asp) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002301686] |
Chr12:48133004 [GRCh38] Chr12:48526787 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.867T>A (p.Tyr289Ter) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002306819] |
Chr12:48135314 [GRCh38] Chr12:48529097 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.512G>T (p.Gly171Val) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002301476] |
Chr12:48133399 [GRCh38] Chr12:48527182 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1493del (p.Gly498fs) |
deletion |
Glycogen storage disease, type VII [RCV002306892] |
Chr12:48141816 [GRCh38] Chr12:48535599 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.631dup (p.His211fs) |
duplication |
Glycogen storage disease, type VII [RCV002307130] |
Chr12:48134267..48134268 [GRCh38] Chr12:48528050..48528051 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1145G>A (p.Trp382Ter) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002306908] |
Chr12:48139866 [GRCh38] Chr12:48533649 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.465_466del (p.Leu156fs) |
deletion |
Glycogen storage disease, type VII [RCV002309443] |
Chr12:48133352..48133353 [GRCh38] Chr12:48527135..48527136 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.31dup (p.Thr11fs) |
duplication |
Glycogen storage disease, type VII [RCV002309247] |
Chr12:48122801..48122802 [GRCh38] Chr12:48516584..48516585 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1734_1735del (p.Tyr579fs) |
deletion |
Glycogen storage disease, type VII [RCV002307890] |
Chr12:48142862..48142863 [GRCh38] Chr12:48536645..48536646 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.851_852del (p.Val284fs) |
deletion |
Glycogen storage disease, type VII [RCV002309499] |
Chr12:48135298..48135299 [GRCh38] Chr12:48529081..48529082 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1905T>A (p.Tyr635Ter) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002310548] |
Chr12:48144070 [GRCh38] Chr12:48537853 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.184G>T (p.Gly62Ter) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002310337] |
Chr12:48131340 [GRCh38] Chr12:48525123 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.638+4A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002967988] |
Chr12:48134280 [GRCh38] Chr12:48528063 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.2042C>T (p.Ala681Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002905374] |
Chr12:48145080 [GRCh38] Chr12:48538863 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1880+19G>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002971364] |
Chr12:48143833 [GRCh38] Chr12:48537616 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1413-19G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002970600] |
Chr12:48141721 [GRCh38] Chr12:48535504 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.1053del (p.Cys351fs) |
deletion |
Glycogen storage disease, type VII [RCV002862007] |
Chr12:48137837 [GRCh38] Chr12:48531620 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.1896T>C (p.Asn632=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003013898] |
Chr12:48144061 [GRCh38] Chr12:48537844 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.852T>G (p.Val284=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002862880] |
Chr12:48135299 [GRCh38] Chr12:48529082 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.957A>G (p.Glu319=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002863586] |
Chr12:48137741 [GRCh38] Chr12:48531524 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1034G>A (p.Arg345His) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003076139]|not provided [RCV003325616] |
Chr12:48137818 [GRCh38] Chr12:48531601 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1989G>A (p.Gln663=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002755477] |
Chr12:48144154 [GRCh38] Chr12:48537937 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1199C>T (p.Ser400Leu) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002947555] |
Chr12:48140729 [GRCh38] Chr12:48534512 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.293G>A (p.Arg98Gln) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002726752] |
Chr12:48132923 [GRCh38] Chr12:48526706 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1266T>C (p.Thr422=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002947577] |
Chr12:48140796 [GRCh38] Chr12:48534579 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1342-15G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002750166] |
Chr12:48141296 [GRCh38] Chr12:48535079 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.548A>G (p.His183Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002860227] |
Chr12:48133435 [GRCh38] Chr12:48527218 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.150T>C (p.Phe50=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002843084] |
Chr12:48130427 [GRCh38] Chr12:48524210 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.639-8C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003034693] |
Chr12:48134713 [GRCh38] Chr12:48528496 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1938G>A (p.Glu646=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003076721] |
Chr12:48144103 [GRCh38] Chr12:48537886 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1439A>G (p.Gln480Arg) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002967721] |
Chr12:48141766 [GRCh38] Chr12:48535549 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.427+9G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002863865] |
Chr12:48133066 [GRCh38] Chr12:48526849 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2092+20G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002993739] |
Chr12:48145150 [GRCh38] Chr12:48538933 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1062+8C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002726904] |
Chr12:48137854 [GRCh38] Chr12:48531637 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2184C>T (p.Asp728=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002995163] |
Chr12:48145301 [GRCh38] Chr12:48539084 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.114T>C (p.Val38=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002771070] |
Chr12:48130391 [GRCh38] Chr12:48524174 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.531C>A (p.Gly177=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003034201] |
Chr12:48133418 [GRCh38] Chr12:48527201 [GRCh37] Chr12:12q13.11 |
likely benign |
GRCh37/hg19 12q13.11(chr12:48380031-48542853)x3 |
copy number gain |
not provided [RCV002475846] |
Chr12:48380031..48542853 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.133G>A (p.Gly45Ser) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003073782] |
Chr12:48130410 [GRCh38] Chr12:48524193 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.872C>G (p.Thr291Ser) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002970805] |
Chr12:48135319 [GRCh38] Chr12:48529102 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.2271T>C (p.Ile757=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003076097] |
Chr12:48145636 [GRCh38] Chr12:48539419 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.867T>C (p.Tyr289=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003034989] |
Chr12:48135314 [GRCh38] Chr12:48529097 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.21dup (p.Ala8fs) |
duplication |
Glycogen storage disease, type VII [RCV002816338] |
Chr12:48122794..48122795 [GRCh38] Chr12:48516577..48516578 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.1725C>T (p.Gly575=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003033818] |
Chr12:48142853 [GRCh38] Chr12:48536636 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1880+12A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002623189] |
Chr12:48143826 [GRCh38] Chr12:48537609 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.189T>G (p.Asp63Glu) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002662901] |
Chr12:48131345 [GRCh38] Chr12:48525128 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.2220G>A (p.Gln740=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002637924] |
Chr12:48145585 [GRCh38] Chr12:48539368 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.936+9C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002780707] |
Chr12:48135392 [GRCh38] Chr12:48529175 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.594-11A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003080644] |
Chr12:48134221 [GRCh38] Chr12:48528004 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.160-18G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002691158] |
Chr12:48131298 [GRCh38] Chr12:48525081 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.712G>A (p.Asp238Asn) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002912823] |
Chr12:48134794 [GRCh38] Chr12:48528577 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1127+14G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002948339] |
Chr12:48139363 [GRCh38] Chr12:48533146 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.86G>A (p.Gly29Asp) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002949654] |
Chr12:48130363 [GRCh38] Chr12:48524146 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.237+8C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002705700] |
Chr12:48131401 [GRCh38] Chr12:48525184 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1880+3A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002695872] |
Chr12:48143817 [GRCh38] Chr12:48537600 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1036C>T (p.Leu346=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003039177] |
Chr12:48137820 [GRCh38] Chr12:48531603 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.757C>T (p.Arg253Cys) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003078560] |
Chr12:48134952 [GRCh38] Chr12:48528735 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.799A>G (p.Ile267Val) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003078416] |
Chr12:48134994 [GRCh38] Chr12:48528777 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.996A>G (p.Pro332=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003080101] |
Chr12:48137780 [GRCh38] Chr12:48531563 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1902C>T (p.Asn634=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002846714] |
Chr12:48144067 [GRCh38] Chr12:48537850 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1742C>T (p.Ala581Val) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002949627]|Inborn genetic diseases [RCV002967286] |
Chr12:48142870 [GRCh38] Chr12:48536653 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1341+1G>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002949644] |
Chr12:48140872 [GRCh38] Chr12:48534655 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1992+14C>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002948353] |
Chr12:48144171 [GRCh38] Chr12:48537954 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.1028C>A (p.Ala343Asp) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003078273] |
Chr12:48137812 [GRCh38] Chr12:48531595 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.428-9C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002619701] |
Chr12:48133306 [GRCh38] Chr12:48527089 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2053A>G (p.Asn685Asp) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002949099] |
Chr12:48145091 [GRCh38] Chr12:48538874 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.551G>A (p.Arg184Gln) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003078074] |
Chr12:48133438 [GRCh38] Chr12:48527221 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.873C>A (p.Thr291=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003019435] |
Chr12:48135320 [GRCh38] Chr12:48529103 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2093-6T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002706216] |
Chr12:48145204 [GRCh38] Chr12:48538987 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1925A>C (p.Asn642Thr) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002736826] |
Chr12:48144090 [GRCh38] Chr12:48537873 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1191+3A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002870869] |
Chr12:48139915 [GRCh38] Chr12:48533698 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1908C>G (p.Thr636=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002889194] |
Chr12:48144073 [GRCh38] Chr12:48537856 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2253C>G (p.Ile751Met) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003020218] |
Chr12:48145618 [GRCh38] Chr12:48539401 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1501-8C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002797172] |
Chr12:48141906 [GRCh38] Chr12:48535689 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.720G>A (p.Glu240=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003017876] |
Chr12:48134802 [GRCh38] Chr12:48528585 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1035C>T (p.Arg345=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003079782] |
Chr12:48137819 [GRCh38] Chr12:48531602 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1057C>T (p.Gln353Ter) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002844028] |
Chr12:48137841 [GRCh38] Chr12:48531624 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.1128-18T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003054848] |
Chr12:48139831 [GRCh38] Chr12:48533614 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2312C>T (p.Thr771Ile) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003078207] |
Chr12:48145677 [GRCh38] Chr12:48539460 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1192-10T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002691077] |
Chr12:48140712 [GRCh38] Chr12:48534495 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.431A>C (p.Lys144Thr) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002636870] |
Chr12:48133318 [GRCh38] Chr12:48527101 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1062+1G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003077821] |
Chr12:48137847 [GRCh38] Chr12:48531630 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.385C>T (p.Arg129Cys) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003078760] |
Chr12:48133015 [GRCh38] Chr12:48526798 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.2001C>T (p.Ser667=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002662553] |
Chr12:48145039 [GRCh38] Chr12:48538822 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.937-19G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002700700] |
Chr12:48137702 [GRCh38] Chr12:48531485 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1819-9C>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003083110] |
Chr12:48143744 [GRCh38] Chr12:48537527 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1619T>C (p.Val540Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002742444] |
Chr12:48142032 [GRCh38] Chr12:48535815 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.2041G>A (p.Ala681Thr) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002932461] |
Chr12:48145079 [GRCh38] Chr12:48538862 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1654-5T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002667854] |
Chr12:48142777 [GRCh38] Chr12:48536560 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.237+5_237+6insCTGAATATG |
insertion |
Glycogen storage disease, type VII [RCV003085830] |
Chr12:48131394..48131395 [GRCh38] Chr12:48525177..48525178 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1314T>C (p.Asp438=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002918025] |
Chr12:48140844 [GRCh38] Chr12:48534627 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.428-7T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002851260] |
Chr12:48133308 [GRCh38] Chr12:48527091 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.926A>T (p.Asp309Val) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003057414] |
Chr12:48135373 [GRCh38] Chr12:48529156 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1992+20C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003081942] |
Chr12:48144177 [GRCh38] Chr12:48537960 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1557C>T (p.Cys519=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002700300] |
Chr12:48141970 [GRCh38] Chr12:48535753 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.18C>T (p.His6=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002872261] |
Chr12:48122792 [GRCh38] Chr12:48516575 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2287G>A (p.Asp763Asn) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003084277] |
Chr12:48145652 [GRCh38] Chr12:48539435 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1122A>G (p.Arg374=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002802077] |
Chr12:48139344 [GRCh38] Chr12:48533127 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.86-5T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002853376] |
Chr12:48130358 [GRCh38] Chr12:48524141 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1127+6G>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002982426] |
Chr12:48139355 [GRCh38] Chr12:48533138 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.321G>A (p.Lys107=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002853408] |
Chr12:48132951 [GRCh38] Chr12:48526734 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1127+19G>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003084582] |
Chr12:48139368 [GRCh38] Chr12:48533151 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.417C>A (p.Leu139=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003056587] |
Chr12:48133047 [GRCh38] Chr12:48526830 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1501-5C>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002871868] |
Chr12:48141909 [GRCh38] Chr12:48535692 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.628C>T (p.Arg210Cys) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002957701] |
Chr12:48134266 [GRCh38] Chr12:48528049 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1828_1834del (p.Glu610fs) |
deletion |
Glycogen storage disease, type VII [RCV002871950] |
Chr12:48143762..48143768 [GRCh38] Chr12:48537545..48537551 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.38G>A (p.Gly13Glu) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002740946] |
Chr12:48122812 [GRCh38] Chr12:48516595 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.2326G>A (p.Gly776Arg) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003056815] |
Chr12:48145691 [GRCh38] Chr12:48539474 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.936+10_936+28del |
deletion |
Glycogen storage disease, type VII [RCV002575667] |
Chr12:48135393..48135411 [GRCh38] Chr12:48529176..48529194 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1383C>T (p.Gly461=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002871668] |
Chr12:48141352 [GRCh38] Chr12:48535135 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1808G>A (p.Arg603Gln) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003085006] |
Chr12:48142936 [GRCh38] Chr12:48536719 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.766C>T (p.Arg256Cys) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003091766] |
Chr12:48134961 [GRCh38] Chr12:48528744 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1826T>C (p.Val609Ala) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003047293] |
Chr12:48143760 [GRCh38] Chr12:48537543 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.954G>A (p.Val318=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003066011] |
Chr12:48137738 [GRCh38] Chr12:48531521 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1002T>C (p.Cys334=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002720061] |
Chr12:48137786 [GRCh38] Chr12:48531569 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1064C>A (p.Thr355Asn) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003090321] |
Chr12:48139286 [GRCh38] Chr12:48533069 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1992+14C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003065155] |
Chr12:48144171 [GRCh38] Chr12:48537954 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1918A>G (p.Ile640Val) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002651312] |
Chr12:48144083 [GRCh38] Chr12:48537866 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.262C>A (p.Arg88=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002632307] |
Chr12:48132892 [GRCh38] Chr12:48526675 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2199-5T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003047870] |
Chr12:48145559 [GRCh38] Chr12:48539342 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2086C>T (p.Arg696Cys) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003091613] |
Chr12:48145124 [GRCh38] Chr12:48538907 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.147C>T (p.Phe49=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002580692] |
Chr12:48130424 [GRCh38] Chr12:48524207 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1993-16_1993-15del |
deletion |
Glycogen storage disease, type VII [RCV003063475] |
Chr12:48145014..48145015 [GRCh38] Chr12:48538797..48538798 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1177C>T (p.Pro393Ser) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003061060]|Inborn genetic diseases [RCV003061061] |
Chr12:48139898 [GRCh38] Chr12:48533681 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.594-20C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003089585] |
Chr12:48134212 [GRCh38] Chr12:48527995 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.874C>T (p.Arg292Trp) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002648067]|Inborn genetic diseases [RCV002630018]|not provided [RCV003128883] |
Chr12:48135321 [GRCh38] Chr12:48529104 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1063-5del |
deletion |
Glycogen storage disease, type VII [RCV002988480] |
Chr12:48139275 [GRCh38] Chr12:48533058 [GRCh37] Chr12:12q13.11 |
benign |
NM_000289.6(PFKM):c.1192-2A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002857659] |
Chr12:48140720 [GRCh38] Chr12:48534503 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.783T>A (p.Ile261=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002834620] |
Chr12:48134978 [GRCh38] Chr12:48528761 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1452T>C (p.Asn484=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002895627] |
Chr12:48141779 [GRCh38] Chr12:48535562 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.657C>T (p.Thr219=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002899248] |
Chr12:48134739 [GRCh38] Chr12:48528522 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.936+2T>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003045184] |
Chr12:48135385 [GRCh38] Chr12:48529168 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1880+5C>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002647716] |
Chr12:48143819 [GRCh38] Chr12:48537602 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.213G>T (p.Glu71Asp) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002895539]|Inborn genetic diseases [RCV002895538] |
Chr12:48131369 [GRCh38] Chr12:48525152 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.116G>A (p.Arg39Gln) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003062509] |
Chr12:48130393 [GRCh38] Chr12:48524176 [GRCh37] Chr12:12q13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000289.6(PFKM):c.444G>C (p.Glu148Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002717628] |
Chr12:48133331 [GRCh38] Chr12:48527114 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1060G>T (p.Val354Leu) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002650176] |
Chr12:48137844 [GRCh38] Chr12:48531627 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.2244C>A (p.Ile748=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003030416] |
Chr12:48145609 [GRCh38] Chr12:48539392 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1596T>C (p.Asn532=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002627551] |
Chr12:48142009 [GRCh38] Chr12:48535792 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2234dup (p.Arg746fs) |
duplication |
Glycogen storage disease, type VII [RCV002856765] |
Chr12:48145598..48145599 [GRCh38] Chr12:48539381..48539382 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.972T>A (p.Leu324=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002646956] |
Chr12:48137756 [GRCh38] Chr12:48531539 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1905T>C (p.Tyr635=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002810125] |
Chr12:48144070 [GRCh38] Chr12:48537853 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.710A>G (p.Asp237Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002714653] |
Chr12:48134792 [GRCh38] Chr12:48528575 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.160-13A>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003061961] |
Chr12:48131303 [GRCh38] Chr12:48525086 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2327G>A (p.Gly776Glu) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003111717]|Inborn genetic diseases [RCV002920744]|not provided [RCV003328721] |
Chr12:48145692 [GRCh38] Chr12:48539475 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1441A>T (p.Ile481Phe) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002962182] |
Chr12:48141768 [GRCh38] Chr12:48535551 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1565T>C (p.Phe522Ser) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002600684] |
Chr12:48141978 [GRCh38] Chr12:48535761 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.2307C>T (p.His769=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002680975] |
Chr12:48145672 [GRCh38] Chr12:48539455 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1063-10C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003069869] |
Chr12:48139275 [GRCh38] Chr12:48533058 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2077G>C (p.Glu693Gln) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003050135] |
Chr12:48145115 [GRCh38] Chr12:48538898 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1208T>C (p.Val403Ala) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003051059] |
Chr12:48140738 [GRCh38] Chr12:48534521 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.995C>T (p.Pro332Leu) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002634058] |
Chr12:48137779 [GRCh38] Chr12:48531562 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.2315G>A (p.Arg772Gln) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003052613] |
Chr12:48145680 [GRCh38] Chr12:48539463 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1453A>G (p.Ile485Val) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002605240] |
Chr12:48141780 [GRCh38] Chr12:48535563 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1771G>A (p.Asp591Asn) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002633708] |
Chr12:48142899 [GRCh38] Chr12:48536682 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.290del (p.Gly97fs) |
deletion |
Glycogen storage disease, type VII [RCV003049510] |
Chr12:48132919 [GRCh38] Chr12:48526702 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.492A>C (p.Ser164=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003049732] |
Chr12:48133379 [GRCh38] Chr12:48527162 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1618G>A (p.Val540Ile) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003069238] |
Chr12:48142031 [GRCh38] Chr12:48535814 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.594-14T>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002607724] |
Chr12:48134218 [GRCh38] Chr12:48528001 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1127+19G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002587971] |
Chr12:48139368 [GRCh38] Chr12:48533151 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2266G>A (p.Glu756Lys) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002942771] |
Chr12:48145631 [GRCh38] Chr12:48539414 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002633476] |
Chr12:48142935 [GRCh38] Chr12:48536718 [GRCh37] Chr12:12q13.11 |
pathogenic|likely pathogenic |
NM_000289.6(PFKM):c.2169G>A (p.Val723=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002585550] |
Chr12:48145286 [GRCh38] Chr12:48539069 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2070A>G (p.Lys690=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002635276] |
Chr12:48145108 [GRCh38] Chr12:48538891 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.883G>A (p.Val295Ile) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002606634] |
Chr12:48135330 [GRCh38] Chr12:48529113 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.857G>T (p.Arg286Leu) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002612277] |
Chr12:48135304 [GRCh38] Chr12:48529087 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.438A>G (p.Thr146=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003070838] |
Chr12:48133325 [GRCh38] Chr12:48527108 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1451A>G (p.Asn484Ser) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003093612] |
Chr12:48141778 [GRCh38] Chr12:48535561 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.160-13A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002610615] |
Chr12:48131303 [GRCh38] Chr12:48525086 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1193G>A (p.Ser398Asn) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002612571] |
Chr12:48140723 [GRCh38] Chr12:48534506 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.843+20G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV002612577] |
Chr12:48135058 [GRCh38] Chr12:48528841 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1377G>C (p.Trp459Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003205134] |
Chr12:48141346 [GRCh38] Chr12:48535129 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.238-3A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003134804] |
Chr12:48132865 [GRCh38] Chr12:48526648 [GRCh37] Chr12:12q13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000289.6(PFKM):c.558G>A (p.Met186Ile) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003134806] |
Chr12:48133445 [GRCh38] Chr12:48527228 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.2120C>T (p.Ser707Leu) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003134807] |
Chr12:48145237 [GRCh38] Chr12:48539020 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.962T>C (p.Val321Ala) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003134808] |
Chr12:48137746 [GRCh38] Chr12:48531529 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1654-54_1654-46del |
deletion |
Glycogen storage disease, type VII [RCV003134803] |
Chr12:48142727..48142735 [GRCh38] Chr12:48536510..48536518 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.2093-33G>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003134805] |
Chr12:48145177 [GRCh38] Chr12:48538960 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1783A>G (p.Ile595Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003199559] |
Chr12:48142911 [GRCh38] Chr12:48536694 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.376G>A (p.Asp126Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003218451] |
Chr12:48133006 [GRCh38] Chr12:48526789 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_001166686.2(PFKM):c.206-4289C>T |
single nucleotide variant |
not provided [RCV003326856] |
Chr12:48118478 [GRCh38] Chr12:48512261 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1592A>G (p.Asn531Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003370131] |
Chr12:48142005 [GRCh38] Chr12:48535788 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1807C>A (p.Arg603=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003873117] |
Chr12:48142935 [GRCh38] Chr12:48536718 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1711G>A (p.Glu571Lys) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003455833] |
Chr12:48142839 [GRCh38] Chr12:48536622 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1341+1G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003476871] |
Chr12:48140872 [GRCh38] Chr12:48534655 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1620_1625delinsGGGGG (p.Ala542fs) |
indel |
Glycogen storage disease, type VII [RCV003476876] |
Chr12:48142033..48142038 [GRCh38] Chr12:48535816..48535821 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.160-1G>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003472431] |
Chr12:48131315 [GRCh38] Chr12:48525098 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.877dup (p.Val293fs) |
duplication |
Glycogen storage disease, type VII [RCV003472430] |
Chr12:48135321..48135322 [GRCh38] Chr12:48529104..48529105 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1500+2T>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003472437] |
Chr12:48141829 [GRCh38] Chr12:48535612 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1280_1290del (p.Leu427fs) |
deletion |
Glycogen storage disease, type VII [RCV003472429] |
Chr12:48140809..48140819 [GRCh38] Chr12:48534592..48534602 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.259G>A (p.Ala87Thr) |
single nucleotide variant |
not provided [RCV003482060] |
Chr12:48132889 [GRCh38] Chr12:48526672 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.1286A>G (p.Gln429Arg) |
single nucleotide variant |
not provided [RCV003482062] |
Chr12:48140816 [GRCh38] Chr12:48534599 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.539C>G (p.Ser180Cys) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003472436] |
Chr12:48133426 [GRCh38] Chr12:48527209 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.702dup (p.Pro235fs) |
duplication |
Glycogen storage disease, type VII [RCV003472434] |
Chr12:48134783..48134784 [GRCh38] Chr12:48528566..48528567 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.811G>T (p.Gly271Ter) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003472435] |
Chr12:48135006 [GRCh38] Chr12:48528789 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1717_1718del (p.Met573fs) |
deletion |
Glycogen storage disease, type VII [RCV003472428] |
Chr12:48142844..48142845 [GRCh38] Chr12:48536627..48536628 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.86-1G>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003476869] |
Chr12:48130362 [GRCh38] Chr12:48524145 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.491_500del (p.Ser164fs) |
deletion |
Glycogen storage disease, type VII [RCV003476872] |
Chr12:48133378..48133387 [GRCh38] Chr12:48527161..48527170 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1282dup (p.Ile428fs) |
duplication |
Glycogen storage disease, type VII [RCV003476873] |
Chr12:48140811..48140812 [GRCh38] Chr12:48534594..48534595 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.779_783delinsC (p.Ile260fs) |
indel |
Glycogen storage disease, type VII [RCV003476874] |
Chr12:48134974..48134978 [GRCh38] Chr12:48528757..48528761 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.2175del (p.Glu725fs) |
deletion |
Glycogen storage disease, type VII [RCV003476875] |
Chr12:48145292 [GRCh38] Chr12:48539075 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_001166686.2(PFKM):c.206-4206A>G |
single nucleotide variant |
not provided [RCV003391770] |
Chr12:48118561 [GRCh38] Chr12:48512344 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1876_1880+2del |
deletion |
Glycogen storage disease, type VII [RCV003476870] |
Chr12:48143810..48143816 [GRCh38] Chr12:48537593..48537599 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.395G>A (p.Trp132Ter) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003472433] |
Chr12:48133025 [GRCh38] Chr12:48526808 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.-8-2A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003472432] |
Chr12:48122765 [GRCh38] Chr12:48516548 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.1063-18G>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003496007] |
Chr12:48139267 [GRCh38] Chr12:48533050 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.160-14A>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003494695] |
Chr12:48131302 [GRCh38] Chr12:48525085 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1426A>T (p.Lys476Ter) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003496212] |
Chr12:48141753 [GRCh38] Chr12:48535536 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.1062+9T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003495092] |
Chr12:48137855 [GRCh38] Chr12:48531638 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1063-7C>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003496491] |
Chr12:48139278 [GRCh38] Chr12:48533061 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1992+20C>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003496517] |
Chr12:48144177 [GRCh38] Chr12:48537960 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1654-7C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003496614] |
Chr12:48142775 [GRCh38] Chr12:48536558 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2241C>A (p.Pro747=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003495637] |
Chr12:48145606 [GRCh38] Chr12:48539389 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1091del (p.Glu364fs) |
deletion |
Glycogen storage disease, type VII [RCV003496289] |
Chr12:48139313 [GRCh38] Chr12:48533096 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.786G>A (p.Val262=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003495003] |
Chr12:48134981 [GRCh38] Chr12:48528764 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.937-8T>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003496481] |
Chr12:48137713 [GRCh38] Chr12:48531496 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.264G>A (p.Arg88=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003496011] |
Chr12:48132894 [GRCh38] Chr12:48526677 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1707C>A (p.Ile569=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003496625] |
Chr12:48142835 [GRCh38] Chr12:48536618 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.708T>C (p.Asp236=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003496740] |
Chr12:48134790 [GRCh38] Chr12:48528573 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1827del (p.Glu610fs) |
deletion |
Glycogen storage disease, type VII [RCV003496193] |
Chr12:48143760 [GRCh38] Chr12:48537543 [GRCh37] Chr12:12q13.11 |
pathogenic |
NM_000289.6(PFKM):c.2198+8C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003496020] |
Chr12:48145323 [GRCh38] Chr12:48539106 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2047_2092+14del |
deletion |
Glycogen storage disease, type VII [RCV003495402] |
Chr12:48145083..48145142 [GRCh38] Chr12:48538866..48538925 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.85+9del |
deletion |
Glycogen storage disease, type VII [RCV003496036] |
Chr12:48122867 [GRCh38] Chr12:48516650 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1713G>A (p.Glu571=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003496648] |
Chr12:48142841 [GRCh38] Chr12:48536624 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1953C>A (p.Ile651=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003496155] |
Chr12:48144118 [GRCh38] Chr12:48537901 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1192-9C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003495679] |
Chr12:48140713 [GRCh38] Chr12:48534496 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.549T>C (p.His183=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003495813] |
Chr12:48133436 [GRCh38] Chr12:48527219 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1992+13C>G |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003495038] |
Chr12:48144170 [GRCh38] Chr12:48537953 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.937-15T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003494861] |
Chr12:48137706 [GRCh38] Chr12:48531489 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.593+18G>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003494875] |
Chr12:48133498 [GRCh38] Chr12:48527281 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.638+7T>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003496438] |
Chr12:48134283 [GRCh38] Chr12:48528066 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2175G>A (p.Glu725=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003494911] |
Chr12:48145292 [GRCh38] Chr12:48539075 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1653+19T>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003495993] |
Chr12:48142085 [GRCh38] Chr12:48535868 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.660T>C (p.Ser220=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003494997] |
Chr12:48134742 [GRCh38] Chr12:48528525 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.201A>G (p.Glu67=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003496475] |
Chr12:48131357 [GRCh38] Chr12:48525140 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1772A>C (p.Asp591Ala) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003494673] |
Chr12:48142900 [GRCh38] Chr12:48536683 [GRCh37] Chr12:12q13.11 |
likely pathogenic |
NM_000289.6(PFKM):c.2093-7A>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003495941] |
Chr12:48145203 [GRCh38] Chr12:48538986 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1500+15C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003494857] |
Chr12:48141842 [GRCh38] Chr12:48535625 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2199-15C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003494870] |
Chr12:48145549 [GRCh38] Chr12:48539332 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1128-19_1128-16del |
deletion |
Glycogen storage disease, type VII [RCV003495966] |
Chr12:48139829..48139832 [GRCh38] Chr12:48533612..48533615 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.844-11G>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003877018] |
Chr12:48135280 [GRCh38] Chr12:48529063 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1062+14C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003495400] |
Chr12:48137860 [GRCh38] Chr12:48531643 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.638+12A>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003495406] |
Chr12:48134288 [GRCh38] Chr12:48528071 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2093-8C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003496626] |
Chr12:48145202 [GRCh38] Chr12:48538985 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.789T>C (p.Ala263=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003496270] |
Chr12:48134984 [GRCh38] Chr12:48528767 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.85+11G>C |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003495369] |
Chr12:48122870 [GRCh38] Chr12:48516653 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.427G>A (p.Gly143Ser) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003496296] |
Chr12:48133057 [GRCh38] Chr12:48526840 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.160-11G>A |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003496704] |
Chr12:48131305 [GRCh38] Chr12:48525088 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2039G>A (p.Gly680Asp) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003496711] |
Chr12:48145077 [GRCh38] Chr12:48538860 [GRCh37] Chr12:12q13.11 |
uncertain significance |
NM_000289.6(PFKM):c.879T>C (p.Val293=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003495526] |
Chr12:48135326 [GRCh38] Chr12:48529109 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1192-19C>T |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003494679] |
Chr12:48140703 [GRCh38] Chr12:48534486 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.2043C>A (p.Ala681=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003494693] |
Chr12:48145081 [GRCh38] Chr12:48538864 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.15G>A (p.Glu5=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003495703] |
Chr12:48122789 [GRCh38] Chr12:48516572 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.34C>T (p.Leu12=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003496359] |
Chr12:48122808 [GRCh38] Chr12:48516591 [GRCh37] Chr12:12q13.11 |
likely benign |
NM_000289.6(PFKM):c.1152G>A (p.Val384=) |
single nucleotide variant |
Glycogen storage disease, type VII [RCV003494792] |
Chr12:48139873 [GRCh38] Chr12:48533656 [GRCh37] Chr12:12q13.11 |
likely benign |