Table 1.
Novel disease‐associated variants added to the Pompe variant database
| DNA nomenclature | Phenotype combined with a null allele | DNA nomenclature | Phenotype combined with a null allele |
|---|---|---|---|
| Ch37/hg19 chr17:78,059,821_ 78,076,592del | Unknown (disease‐associated) | c.1057C>T | Unknown (disease‐associated) |
| c.−113+2T>A | Unknown (disease‐associated) | c.1057del | Unknown (disease‐associated) |
| c.−32‐17_−32‐10delins(30) | Classic infantile | c.1099T>G | Unknown (disease‐associated) |
| c.−32‐1G>C | Unknown (disease‐associated) | c.1106T>A | Unknown (disease‐associated) |
| c.40_47del | Classic infantile | c.1109G>A | Unknown (disease‐associated) |
| c.104T>C | Classic infantile | c.1114C>G | Unknown (disease‐associated) |
| c.169C>T | Classic infantile | c.1114C>T | Unknown (disease‐associated) |
| c.205C>T | Unknown (disease‐associated) | c.1121G>A | Unknown (disease‐associated) |
| c.258C>A | Unknown (disease‐associated) | c.1127_1130del | Unknown (disease‐associated) |
| c.265C>T | Unknown (disease‐associated) | c.1129G>A | Unknown (disease‐associated) |
| c.295_314del | Unknown (disease‐associated) | c.1153del | Unknown (disease‐associated) |
| c.323G>C | Unknown (disease‐associated) | c.1192del | Unknown (disease‐associated) |
| c.365del | Unknown (disease‐associated) | c.1193del | Unknown (disease‐associated) |
| c.380G>A | Unknown (disease‐associated) | c.1201C>A | Unknown (disease‐associated) |
| c.397T>G | Unknown (disease‐associated) | c.1209C>A | Unknown (disease‐associated) |
| c.437del | Classic infantile | c.1211A>C | Unknown (disease‐associated) |
| c.445A>C | Unknown (disease‐associated) | c.1211A>T | Classic infantile |
| c.484A>C | Classic infantile | c.1212C>G | Unknown (disease‐associated) |
| c.502C>T | Unknown (disease‐associated) | c.1216G>A | Childhood |
| c.505C>A | Unknown (disease‐associated) | c.1219T>C | Unknown (disease‐associated) |
| c.517_519del | Childhood | c.1221C>A | Classic infantile |
| c.541_545del | Classic infantile | c.1221del | Unknown (disease‐associated) |
| c.547‐1G>C | Unknown (disease‐associated) | c.1226_1227insG | Classic infantile |
| c.568C>T | Unknown (disease‐associated) | c.1231del | Unknown (disease‐associated) |
| c.665T>G | Classic infantile | c.1240T>C | Unknown (disease‐associated) |
| c.686G>C | Unknown (disease‐associated) | c.1241del | Classic infantile |
| c.691C>T | Unknown (disease‐associated) | c.1242C>A | Unknown (disease‐associated) |
| c.692T>C | Unknown (disease‐associated) | c.1249A>C | Unknown (disease‐associated) |
| c.692+1G>T | Unknown (disease‐associated) | c.1281G>T | Classic infantile |
| c.693‐2A>C | Classic infantile | c.1292_1295dup | Classic infantile |
| c.693‐1G>C | Unknown (disease‐associated) | c.1293_1326+57del | Unknown (disease‐associated) |
| c.715_716del | Unknown (disease‐associated) | c.1298A>C | Classic infantile |
| c.730C>T | Classic infantile | c.1311_1312ins(26) | Classic infantile |
| c.736del | Unknown (disease‐associated) | c.1320_1322del | Classic infantile |
| c.756_757insT | Unknown (disease‐associated) | c.1327‐54_1437+178del | Classic infantile |
| c.759del | Unknown (disease‐associated) | c.1358_1361del | Classic infantile |
| c.766_784del | Unknown (disease‐associated) | c.1378G>T | Unknown (disease‐associated) |
| c.781G>A | Classic infantile | c.1388_1406del | Unknown (disease‐associated) |
| c.784G>C | Unknown (disease‐associated) | c.1396dup | Unknown (disease‐associated) |
| c.796C>A | Childhood | c.1402A>T | Unknown (disease‐associated) |
| c.799_803delinsA | Unknown (disease‐associated) | c.1409A>G | Unknown (disease‐associated) |
| c.837G>C | Unknown (disease‐associated) | c.1431del | Classic infantile |
| c.841C>T | Unknown (disease‐associated) | c.1441del | Unknown (disease‐associated) |
| c.876C>G | Classic infantile | c.1447G>T | Unknown (disease‐associated) |
| c.878G>T | Unknown (disease‐associated) | c.1456G>T | Unknown (disease‐associated) |
| c.883C>A | Unknown (disease‐associated) | c.1464dup | Classic infantile |
| c.930_932del | Classic infantile | c.1470C>A | Childhood |
| c.942C>A | Unknown (disease‐associated) | c.1477C>T | Unknown (disease‐associated) |
| c.947A>G | Classic infantile | c.1493G>A | Classic infantile |
| c.950C>T | Unknown (disease‐associated) | c.1501_1515del | Unknown (disease‐associated) |
| c.955+1G>A | Classic infantile | c.1507del | Classic infantile |
| c.971dup | Classic infantile | c.1526A>T | Unknown (disease‐associated) |
| c.982_988del | Classic infantile | c.1531C>A | Unknown (disease‐associated) |
| c.983T>C | Classic infantile | c.1537G>A | Unknown (disease‐associated) |
| c.994_995insTT | Unknown (disease‐associated) | c.1538A>G | Classic infantile |
| c.1000G>T | Classic infantile | c.1551+3A>T | Unknown (disease‐associated) |
| c.1004_1005dup | Unknown (disease‐associated) | c.1551+5G>A | Unknown (disease‐associated) |
| c.1047del | Unknown (disease‐associated) | c.1559A>G | Unknown (disease‐associated) |
| c.1560C>G | Unknown (disease‐associated) | c.2096T>C | Unknown (disease‐associated) |
| c.1579_1580del | Classic infantile | c.2109del | Unknown (disease‐associated) |
| c.1583G>C | Unknown (disease‐associated) | c.2131A>C | Classic infantile |
| c.1594G>A | Adult | c.2146G>C | Unknown (disease‐associated) |
| c.1597T>G | Classic infantile | c.2153_2156delinsACGCCG | Classic infantile |
| c.1602_1605delinsAGG | Classic infantile | c.2182_2183del | Unknown (disease‐associated) |
| c.1610del | Unknown (disease‐associated) | c.2190‐345A>G | Unknown (disease‐associated) |
| c.1627T>G | Unknown (disease‐associated) | c.2205dup | Classic infantile |
| c.1629C>G | Unknown (disease‐associated) | c.2213G>A | Classic infantile |
| c.1636G>C | Unknown (disease‐associated) | c.2221G>A | Classic infantile |
| c.1636+5G>A | Classic infantile | c.2222A>T | Unknown (disease‐associated) |
| c.1650del | Unknown (disease‐associated) | c.2234T>C | Classic infantile |
| c.1657C>T | Classic infantile | c.2235dup | Classic infantile |
| c.1681_1699dup | Unknown (disease‐associated) | c.2237G>T | Unknown (disease‐associated) |
| c.1688A>T | Unknown (disease‐associated) | c.2240G>A | Unknown (disease‐associated) |
| c.1716C>A | Classic infantile | c.2261dup | Unknown (disease‐associated) |
| c.1721T>C | Unknown (disease‐associated) | c.2294G>A | Classic infantile |
| c.1753_2799del | Classic infantile | c.2296T>A | Classic infantile |
| c.1754+1dup | Unknown (disease‐associated) | c.2297A>C | Classic infantile |
| c.1754+2T>C | Unknown (disease‐associated) | c.2304del | Unknown (disease‐associated) |
| c.1780C>T | Unknown (disease‐associated) | c.2320G>A | Unknown (disease‐associated) |
| c.1784C>T | Unknown (disease‐associated) | c.2331+5G>C | Classic infantile |
| c.1799G>C | Unknown (disease‐associated) | c.2331+102del | Unknown (disease‐associated) |
| c.1822del | Unknown (disease‐associated) | c.2334_2335dup | Unknown (disease‐associated) |
| c.1825T>G | Unknown (disease‐associated) | c.2377_2378insAC | Classic infantile |
| c.1835A>C | Unknown (disease‐associated) | c.2380dup | Unknown (disease‐associated) |
| c.1835A>G | Unknown (disease‐associated) | c.2395C>T | Unknown (disease‐associated) |
| c.1837T>G | Unknown (disease‐associated) | c.2407C>T | Unknown (disease‐associated) |
| c.1839G>C | Unknown (disease‐associated) | c.2411G>A | Classic infantile |
| c.1844_1846del | Unknown (disease‐associated) | c.2459_2461del | Unknown (disease‐associated) |
| c.1844G>T | Classic infantile | c.2460dup | Unknown (disease‐associated) |
| c.1844G>A | Classic infantile | c.2474C>G | Unknown (disease‐associated) |
| c.1847dup | Unknown (disease‐associated) | c.2480A>G | Unknown (disease‐associated) |
| c.1859C>A | Unknown (disease‐associated) | c.2515C>T | Unknown (disease‐associated) |
| c.1879_1881del | Classic infantile | c.2537C>A | Unknown (disease‐associated) |
| c.1888+2_1888+15del | Classic infantile | c.2544del | Unknown (disease‐associated) |
| c.1895T>C | Unknown (disease‐associated) | c.2563G>C | Classic infantile |
| c.1895T>G | Classic infantile | c.2578G>A | Unknown (disease‐associated) |
| c.1903A>G | Unknown (disease‐associated) | c.2584G>A | Childhood |
| c.1913G>A | Classic infantile | c.2585del | Classic infantile |
| c.1944_1950del | Unknown (disease‐associated) | c.2596del | Unknown (disease‐associated) |
| c.1952dup | Unknown (disease‐associated) | c.2619C>G | Unknown (disease‐associated) |
| c.1961C>G | Unknown (disease‐associated) | c.2636T>C | Classic infantile |
| c.2004C>A | Unknown (disease‐associated) | c.2655_2656del | Unknown (disease‐associated) |
| c.2015G>T | Unknown (disease‐associated) | c.2716G>A | Unknown (disease‐associated) |
| c.2020C>G | Unknown (disease‐associated) | c.2720T>C | Unknown (disease‐associated) |
| c.2020C>T | Unknown (disease‐associated) | c.2725G>A | Unknown (disease‐associated) |
| c.2024A>G | Classic infantile | c.2740dup | Unknown (disease‐associated) |
| c.2040+2dup | Unknown (disease‐associated) | c.2742dup | Classic infantile |
| c.2040+29_2190‐270del | Classic infantile | c.2757del | Unknown (disease‐associated) |
| c.2041‐2A>G | Classic infantile | c.2799+5G>A | Unknown (disease‐associated) |
| c.2051C>A | Unknown (disease‐associated) | c.2800‐1G>C | Classic infantile |
| c.2051C>G | Unknown (disease‐associated) | c.2843dup | Classic infantile |
| c.2051C>T | Classic infantile | c.2845_2847del | Unknown (disease‐associated) |
| c.2056_2057delinsCC | Unknown (disease‐associated) | ||
| c.2084dup | Unknown (disease‐associated) |