| 126731364 | CV1019311 | single nucleotide variant | NM_013328.4(PYCR2):c.67+6C>A | Hypomyelinating leukodystrophy 10 [RCV001333698] | uncertain significance | 1 | 225924038 | 225924038 | Human | 1 | name |
| 598221449 | CV3891933 | single nucleotide variant | NM_013328.4(PYCR2):c.67+2C>T | Hypomyelinating leukodystrophy 10 [RCV005253272] | pathogenic | 1 | 225924042 | 225924042 | Human | 1 | name |
| 15181007 | CV743680 | single nucleotide variant | NM_013328.4(PYCR2):c.68-9C>T | not provided [RCV000907487] | likely benign | 1 | 225923780 | 225923780 | Human | | name |
| 127308699 | CV1153513 | single nucleotide variant | NM_013328.4(PYCR2):c.797+9A>C | Hypomyelinating leukodystrophy 10 [RCV001796542]|not provided [RCV001517605] | benign | 1 | 225921199 | 225921199 | Human | 1 | name |
| 150544783 | CV1315237 | single nucleotide variant | NM_013328.4(PYCR2):c.318+1G>A | Hypomyelinating leukodystrophy 10 [RCV001783651] | likely pathogenic | 1 | 225922203 | 225922203 | Human | 1 | name |
| 152063202 | CV1594639 | single nucleotide variant | NM_013328.4(PYCR2):c.68-13C>G | not provided [RCV002110382] | likely benign | 1 | 225923784 | 225923784 | Human | | name |
| 156028796 | CV2096939 | single nucleotide variant | NM_013328.4(PYCR2):c.68-19A>C | not provided [RCV002885307] | likely benign | 1 | 225923790 | 225923790 | Human | | name |
| 405258283 | CV3203160 | single nucleotide variant | NM_013328.4(PYCR2):c.318+6C>T | PYCR2-related disorder [RCV003941771] | likely benign | 1 | 225922198 | 225922198 | Human | | name , trait , alternate_id |
| 597836836 | CV3761397 | single nucleotide variant | NM_013328.4(PYCR2):c.634-5C>G | not provided [RCV005085768] | likely benign | 1 | 225921376 | 225921376 | Human | | name |
| 597960157 | CV3797971 | single nucleotide variant | NM_013328.4(PYCR2):c.138+8G>T | not provided [RCV005138445] | likely benign | 1 | 225923693 | 225923693 | Human | | name |
| 597831894 | CV3863980 | single nucleotide variant | NM_013328.4(PYCR2):c.633+1G>A | Hypomyelinating leukodystrophy 10 [RCV005208395] | likely pathogenic | 1 | 225921551 | 225921551 | Human | 1 | name |
| 13214559 | CV427716 | single nucleotide variant | NM_013328.4(PYCR2):c.139-2A>C | Hypomyelinating leukodystrophy 10 [RCV000501298] | likely pathogenic | 1 | 225922385 | 225922385 | Human | 1 | name |
| 13509032 | CV481585 | single nucleotide variant | NM_013328.4(PYCR2):c.319-1G>C | Hypomyelinating leukodystrophy 10 [RCV005001991]|not provided [RCV000578804] | pathogenic|likely pathogenic|uncertain significance | 1 | 225922080 | 225922080 | Human | 1 | name |
| 13608991 | CV535292 | single nucleotide variant | NM_013328.4(PYCR2):c.138+1G>T | Hypomyelinating leukodystrophy 10 [RCV003994069]|not provided [RCV000656244] | pathogenic|likely pathogenic | 1 | 225923700 | 225923700 | Human | 1 | name |
| 15192347 | CV729968 | single nucleotide variant | NM_013328.4(PYCR2):c.634-3T>C | not provided [RCV000888638]|not specified [RCV001818647] | benign | 1 | 225921374 | 225921374 | Human | | name |
| 38492641 | CV940620 | single nucleotide variant | NM_013328.4(PYCR2):c.540+2T>G | not provided [RCV001223728] | pathogenic | 1 | 225921856 | 225921856 | Human | | name |
| 127303797 | CV1153512 | single nucleotide variant | NM_013328.4(PYCR2):c.797+14G>A | Hypomyelinating leukodystrophy 10 [RCV001796538]|not provided [RCV001515606] | benign | 1 | 225921194 | 225921194 | Human | 1 | name |
| 151883797 | CV1452476 | single nucleotide variant | NM_013328.4(PYCR2):c.797+16G>A | not provided [RCV002037417] | likely benign|uncertain significance | 1 | 225921192 | 225921192 | Human | | name |
| 152127064 | CV1530226 | single nucleotide variant | NM_013328.4(PYCR2):c.634-13C>G | not provided [RCV002198819] | likely benign | 1 | 225921384 | 225921384 | Human | | name |
| 152154295 | CV1550498 | single nucleotide variant | NM_013328.4(PYCR2):c.540+19C>T | not provided [RCV002139969] | benign | 1 | 225921839 | 225921839 | Human | | name |
| 156408808 | CV1954527 | single nucleotide variant | NM_013328.4(PYCR2):c.319-20G>A | not provided [RCV002586622] | likely benign | 1 | 225922099 | 225922099 | Human | | name |
| 156319684 | CV1965983 | single nucleotide variant | NM_013328.4(PYCR2):c.540+20G>A | not provided [RCV002600149] | likely benign | 1 | 225921838 | 225921838 | Human | | name |
| 155906360 | CV2048183 | single nucleotide variant | NM_013328.4(PYCR2):c.541-12G>A | not provided [RCV002771287] | likely benign | 1 | 225921656 | 225921656 | Human | | name |
| 156186461 | CV2164176 | single nucleotide variant | NM_013328.4(PYCR2):c.540+18T>G | not provided [RCV003023994] | likely benign | 1 | 225921840 | 225921840 | Human | | name |
| 597830578 | CV3743115 | single nucleotide variant | NM_013328.4(PYCR2):c.633+17C>T | not provided [RCV005062123] | likely benign | 1 | 225921535 | 225921535 | Human | | name |
| 152158256 | CV1542202 | single nucleotide variant | NM_013328.4(PYCR2):c.6C>T (p.Ser2=) | not provided [RCV002202983] | likely benign | 1 | 225924105 | 225924105 | Human | | name |
| 15156646 | CV778771 | microsatellite | NM_013328.4(PYCR2):c.139-7_139-6del | not provided [RCV000969152]|not specified [RCV001819089] | benign|likely benign | 1 | 225922389 | 225922390 | Human | | name |
| 156026600 | CV2048948 | single nucleotide variant | NM_013328.4(PYCR2):c.18C>A (p.Ile6=) | not provided [RCV002795840] | likely benign | 1 | 225924093 | 225924093 | Human | | name |
| 156200105 | CV2083302 | single nucleotide variant | NM_013328.4(PYCR2):c.3G>A (p.Met1Ile) | not provided [RCV002852435] | uncertain significance | 1 | 225924108 | 225924108 | Human | | name |
| 404996822 | CV2992601 | single nucleotide variant | NM_013328.4(PYCR2):c.2T>G (p.Met1Arg) | not provided [RCV003692779] | uncertain significance | 1 | 225924109 | 225924109 | Human | | name |
| 405189643 | CV3117966 | single nucleotide variant | NM_013328.4(PYCR2):c.43C>T (p.Leu15=) | not provided [RCV003820876] | likely benign | 1 | 225924068 | 225924068 | Human | | name |
| 152090790 | CV1602757 | single nucleotide variant | NM_013328.4(PYCR2):c.156G>A (p.Leu52=) | not provided [RCV002194270] | likely benign | 1 | 225922366 | 225922366 | Human | | name |
| 13215194 | CV427717 | single nucleotide variant | NM_013328.4(PYCR2):c.135C>G (p.Leu45=) | not provided [RCV000888447]|not specified [RCV000502199] | benign|likely benign | 1 | 225923704 | 225923704 | Human | | name |
| 15144090 | CV707134 | single nucleotide variant | NM_013328.4(PYCR2):c.177G>A (p.Thr59=) | not provided [RCV000966781] | likely benign | 1 | 225922345 | 225922345 | Human | | name |
| 15189567 | CV732192 | single nucleotide variant | NM_013328.4(PYCR2):c.288G>A (p.Ala96=) | not provided [RCV000909688] | likely benign | 1 | 225922234 | 225922234 | Human | | name |
| 15198719 | CV746181 | single nucleotide variant | NM_013328.4(PYCR2):c.267A>G (p.Arg89=) | not provided [RCV000912340] | likely benign | 1 | 225922255 | 225922255 | Human | | name |
| 15157427 | CV746182 | single nucleotide variant | NM_013328.4(PYCR2):c.192C>T (p.Asp64=) | not provided [RCV000924859] | likely benign | 1 | 225922330 | 225922330 | Human | | name |
| 15183511 | CV761665 | single nucleotide variant | NM_013328.4(PYCR2):c.132G>T (p.Ala44=) | not provided [RCV000930606] | likely benign | 1 | 225923707 | 225923707 | Human | | name |
| 127300542 | CV1153511 | single nucleotide variant | NM_013328.4(PYCR2):c.918G>A (p.Gly306=) | not provided [RCV001514235] | benign | 1 | 225920500 | 225920500 | Human | | name |
| 150415081 | CV1175852 | single nucleotide variant | NM_013328.4(PYCR2):c.40G>C (p.Ala14Pro) | Hypomyelinating leukodystrophy 10 [RCV001824175]|not provided [RCV001548416] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 1 | 225924071 | 225924071 | Human | 1 | name |
| 151777419 | CV1411721 | single nucleotide variant | NM_013328.4(PYCR2):c.53G>C (p.Gly18Ala) | not provided [RCV001930110] | uncertain significance | 1 | 225924058 | 225924058 | Human | | name |
| 152126286 | CV1527926 | single nucleotide variant | NM_013328.4(PYCR2):c.525C>G (p.Gly175=) | not provided [RCV002098863] | likely benign | 1 | 225921873 | 225921873 | Human | | name |
| 152058687 | CV1531949 | single nucleotide variant | NM_013328.4(PYCR2):c.528C>T (p.Ser176=) | not provided [RCV002090002] | likely benign | 1 | 225921870 | 225921870 | Human | | name |
| 152126850 | CV1571991 | single nucleotide variant | NM_013328.4(PYCR2):c.801G>A (p.Glu267=) | not provided [RCV002217527] | likely benign | 1 | 225920617 | 225920617 | Human | | name |
| 152054899 | CV1581971 | single nucleotide variant | NM_013328.4(PYCR2):c.417C>T (p.Thr139=) | not provided [RCV002089586] | likely benign | 1 | 225921981 | 225921981 | Human | | name |
| 152117903 | CV1601100 | single nucleotide variant | NM_013328.4(PYCR2):c.601C>T (p.Leu201=) | not provided [RCV002097747] | benign | 1 | 225921584 | 225921584 | Human | 1 | name |
| 152117903 | CV1601100 | single nucleotide variant | NM_013328.4(PYCR2):c.601C>T (p.Leu201=) | not provided [RCV002097747] | benign | 1 | 225921584 | 225921585 | Human | 1 | name |
| 152165565 | CV1611384 | single nucleotide variant | NM_013328.4(PYCR2):c.573T>G (p.Gly191=) | not provided [RCV002141744] | likely benign | 1 | 225921612 | 225921612 | Human | | name |
| 156103449 | CV1907271 | single nucleotide variant | NM_013328.4(PYCR2):c.690T>C (p.Asn230=) | not provided [RCV003080692] | likely benign | 1 | 225921315 | 225921315 | Human | | name |
| 156418358 | CV1910998 | single nucleotide variant | NM_013328.4(PYCR2):c.300C>T (p.Thr100=) | not provided [RCV002611542] | likely benign | 1 | 225922222 | 225922222 | Human | | name |
| 156312145 | CV1913656 | single nucleotide variant | NM_013328.4(PYCR2):c.558C>T (p.Asp186=) | not provided [RCV002599724] | benign | 1 | 225921627 | 225921627 | Human | | name |
| 156388409 | CV1955085 | deletion | NM_013328.4(PYCR2):c.252del (p.Asp85fs) | Hypomyelinating leukodystrophy 10 [RCV005254110]|not provided [RCV002583665] | pathogenic|likely pathogenic | 1 | 225922270 | 225922270 | Human | 1 | name |
| 155981105 | CV1972427 | single nucleotide variant | NM_013328.4(PYCR2):c.579G>A (p.Val193=) | not provided [RCV002617605] | uncertain significance | 1 | 225921606 | 225921606 | Human | | name |
| 156391127 | CV1990140 | single nucleotide variant | NM_013328.4(PYCR2):c.747C>T (p.Gly249=) | not provided [RCV002604677] | likely benign | 1 | 225921258 | 225921258 | Human | | name |
| 156135373 | CV1995403 | single nucleotide variant | NM_013328.4(PYCR2):c.501C>T (p.Ile167=) | not provided [RCV002663371] | likely benign | 1 | 225921897 | 225921897 | Human | | name |
| 155994288 | CV2126027 | single nucleotide variant | NM_013328.4(PYCR2):c.711C>A (p.Ala237=) | not provided [RCV002974876] | likely benign | 1 | 225921294 | 225921294 | Human | | name |
| 401936820 | CV2816114 | single nucleotide variant | NM_013328.4(PYCR2):c.660G>A (p.Ser220=) | not provided [RCV003414840] | likely benign | 1 | 225921345 | 225921345 | Human | | name |
| 404999798 | CV2850881 | single nucleotide variant | NM_013328.4(PYCR2):c.50G>C (p.Arg17Pro) | Hypomyelinating leukodystrophy 10 [RCV003493147] | uncertain significance | 1 | 225924061 | 225924061 | Human | 1 | name |
| 405037507 | CV3140592 | single nucleotide variant | NM_013328.4(PYCR2):c.631C>T (p.Leu211=) | not provided [RCV003831074] | likely benign | 1 | 225921554 | 225921554 | Human | | name |
| 596944392 | CV3543183 | single nucleotide variant | NM_013328.4(PYCR2):c.28C>T (p.Gln10Ter) | Leukodystrophy [RCV004799055] | likely pathogenic | 1 | 225924083 | 225924083 | Human | 2 | name |
| 597706718 | CV3592499 | single nucleotide variant | NM_013328.4(PYCR2):c.64G>T (p.Ala22Ser) | Inborn genetic diseases [RCV004957416] | uncertain significance | 1 | 225924047 | 225924047 | Human | 1 | name |
| 597893909 | CV3810005 | single nucleotide variant | NM_013328.4(PYCR2):c.375T>G (p.Pro125=) | not provided [RCV005151726] | likely benign | 1 | 225922023 | 225922023 | Human | | name |
| 597855957 | CV3821888 | single nucleotide variant | NM_013328.4(PYCR2):c.874C>T (p.Leu292=) | not provided [RCV005174366] | likely benign | 1 | 225920544 | 225920544 | Human | | name |
| 14396706 | CV612524 | single nucleotide variant | NM_013328.4(PYCR2):c.513G>A (p.Thr171=) | not provided [RCV000761710] | likely benign | 1 | 225921885 | 225921885 | Human | | name |
| 15168361 | CV696503 | single nucleotide variant | NM_013328.4(PYCR2):c.924C>G (p.Leu308=) | Hypomyelinating leukodystrophy 10 [RCV002488029]|not provided [RCV000949240]|not specified [RCV001818949] | benign|likely benign | 1 | 225920494 | 225920494 | Human | 1 | name |
| 15155779 | CV696504 | single nucleotide variant | NM_013328.4(PYCR2):c.399A>G (p.Thr133=) | not provided [RCV000946562]|not specified [RCV001818935] | benign|uncertain significance | 1 | 225921999 | 225921999 | Human | | name |
| 15163935 | CV707133 | single nucleotide variant | NM_013328.4(PYCR2):c.615C>T (p.Leu205=) | not provided [RCV000970597]|not specified [RCV001819108] | likely benign | 1 | 225921570 | 225921570 | Human | | name |
| 15164419 | CV732191 | single nucleotide variant | NM_013328.4(PYCR2):c.762C>T (p.Leu254=) | not provided [RCV000903997] | likely benign | 1 | 225921243 | 225921243 | Human | | name |
| 15200380 | CV761664 | single nucleotide variant | NM_013328.4(PYCR2):c.507C>T (p.Ala169=) | not provided [RCV000935365] | likely benign | 1 | 225921891 | 225921891 | Human | | name |
| 150546545 | CV1313791 | duplication | NM_013328.4(PYCR2):c.354dup (p.Arg119fs) | Hypomyelinating leukodystrophy 10 [RCV001784890] | pathogenic | 1 | 225922043 | 225922044 | Human | 1 | name |
| 151748774 | CV1367837 | deletion | NM_013328.4(PYCR2):c.309del (p.Val104fs) | Hypomyelinating leukodystrophy 10 [RCV002503396]|not provided [RCV001894106] | pathogenic|likely pathogenic | 1 | 225922213 | 225922213 | Human | 1 | name |
| 151883347 | CV1452350 | single nucleotide variant | NM_013328.4(PYCR2):c.193G>A (p.Val65Ile) | Inborn genetic diseases [RCV004038719]|not provided [RCV002037322] | uncertain significance | 1 | 225922329 | 225922329 | Human | 1 | name |
| 151817655 | CV1457089 | single nucleotide variant | NM_013328.4(PYCR2):c.274G>A (p.Val92Met) | Inborn genetic diseases [RCV004953238]|not provided [RCV001900568] | uncertain significance | 1 | 225922248 | 225922248 | Human | 1 | name |
| 156070700 | CV1959193 | single nucleotide variant | NM_013328.4(PYCR2):c.245T>C (p.Ile82Thr) | Inborn genetic diseases [RCV002574906]|not provided [RCV002569596] | uncertain significance | 1 | 225922277 | 225922277 | Human | 1 | name |
| 156085559 | CV2008748 | single nucleotide variant | NM_013328.4(PYCR2):c.144G>A (p.Met48Ile) | not provided [RCV002706134] | uncertain significance | 1 | 225922378 | 225922378 | Human | | name |
| 156229601 | CV2156606 | single nucleotide variant | NM_013328.4(PYCR2):c.138G>T (p.Arg46Ser) | not provided [RCV003025592] | uncertain significance | 1 | 225923701 | 225923701 | Human | | name |
| 156334135 | CV2214720 | single nucleotide variant | NM_013328.4(PYCR2):c.256G>A (p.Val86Met) | Inborn genetic diseases [RCV002673677] | uncertain significance | 1 | 225922266 | 225922266 | Human | 1 | name |
| 156261110 | CV2216411 | single nucleotide variant | NM_013328.4(PYCR2):c.197T>G (p.Leu66Arg) | Inborn genetic diseases [RCV002703029] | uncertain significance | 1 | 225922325 | 225922325 | Human | 1 | name |
| 156176611 | CV2278297 | single nucleotide variant | NM_013328.4(PYCR2):c.130G>A (p.Ala44Thr) | Inborn genetic diseases [RCV002873415] | uncertain significance | 1 | 225923709 | 225923709 | Human | 1 | name |
| 401763878 | CV2700241 | single nucleotide variant | NM_013328.4(PYCR2):c.109A>G (p.Met37Val) | Inborn genetic diseases [RCV003281670] | uncertain significance | 1 | 225923730 | 225923730 | Human | 1 | name |
| 405667587 | CV3312001 | single nucleotide variant | NM_013328.4(PYCR2):c.176C>T (p.Thr59Met) | Inborn genetic diseases [RCV004440580] | uncertain significance | 1 | 225922346 | 225922346 | Human | 1 | name |
| 405667592 | CV3312002 | single nucleotide variant | NM_013328.4(PYCR2):c.184C>T (p.His62Tyr) | Inborn genetic diseases [RCV004440581] | uncertain significance | 1 | 225922338 | 225922338 | Human | 1 | name |
| 12838869 | CV364833 | single nucleotide variant | NM_013328.4(PYCR2):c.160C>T (p.Arg54Cys) | Hypomyelinating leukodystrophy 10 [RCV003992296]|Inborn genetic diseases [RCV003168696]|not provided [RCV000994266]|not specified [RCV000427760] | likely benign|uncertain significance | 1 | 225922362 | 225922362 | Human | 2 | name |
| 598217528 | CV3891502 | duplication | NM_013328.4(PYCR2):c.746dup (p.Phe250fs) | Hypomyelinating leukodystrophy 10 [RCV005252344] | pathogenic | 1 | 225921258 | 225921259 | Human | 1 | name |
| 598251978 | CV3898215 | single nucleotide variant | NM_013328.4(PYCR2):c.189C>G (p.Ser63Arg) | Inborn genetic diseases [RCV005259341] | uncertain significance | 1 | 225922333 | 225922333 | Human | 1 | name |
| 40886444 | CV861040 | single nucleotide variant | NM_013328.4(PYCR2):c.257T>G (p.Val86Gly) | Hypomyelinating leukodystrophy 10 [RCV001264779] | likely pathogenic | 1 | 225922265 | 225922265 | Human | 1 | name |
| 126734844 | CV1019309 | single nucleotide variant | NM_013328.4(PYCR2):c.678G>T (p.Gln226His) | Hypomyelinating leukodystrophy 10 [RCV001334714] | uncertain significance | 1 | 225921327 | 225921327 | Human | 1 | name |
| 126734841 | CV1019310 | single nucleotide variant | NM_013328.4(PYCR2):c.676C>T (p.Gln226Ter) | Hypomyelinating leukodystrophy 10 [RCV001814814]|not provided [RCV005095231] | pathogenic|likely pathogenic | 1 | 225921329 | 225921329 | Human | 1 | name |
| 150548872 | CV1293950 | single nucleotide variant | NM_013328.4(PYCR2):c.675C>G (p.Cys225Trp) | not provided [RCV001764789] | uncertain significance | 1 | 225921330 | 225921330 | Human | | name |
| 151736989 | CV1361870 | single nucleotide variant | NM_013328.4(PYCR2):c.410C>T (p.Thr137Met) | not provided [RCV001967738] | uncertain significance | 1 | 225921988 | 225921988 | Human | | name |
| 151861856 | CV1369424 | single nucleotide variant | NM_013328.4(PYCR2):c.508G>A (p.Val170Ile) | not provided [RCV002034455] | uncertain significance | 1 | 225921890 | 225921890 | Human | | name |
| 151890445 | CV1405186 | single nucleotide variant | NM_013328.4(PYCR2):c.745G>C (p.Gly249Arg) | not provided [RCV001888413] | uncertain significance | 1 | 225921260 | 225921260 | Human | | name |
| 151857084 | CV1410434 | single nucleotide variant | NM_013328.4(PYCR2):c.598C>T (p.Arg200Cys) | Inborn genetic diseases [RCV004656775]|not provided [RCV001996668] | uncertain significance | 1 | 225921587 | 225921587 | Human | 1 | name |
| 151884020 | CV1476798 | single nucleotide variant | NM_013328.4(PYCR2):c.397A>C (p.Thr133Pro) | not provided [RCV001887058] | uncertain significance | 1 | 225922001 | 225922001 | Human | | name |
| 155700754 | CV1773103 | single nucleotide variant | NM_013328.4(PYCR2):c.817G>C (p.Asp273His) | not provided [RCV002295613] | uncertain significance | 1 | 225920601 | 225920601 | Human | | name |
| 155721776 | CV1776471 | single nucleotide variant | NM_013328.4(PYCR2):c.643A>G (p.Lys215Glu) | not provided [RCV002296733] | uncertain significance | 1 | 225921362 | 225921362 | Human | | name |
| 10047446 | CV190179 | single nucleotide variant | NM_013328.4(PYCR2):c.355C>T (p.Arg119Cys) | Hypomyelinating leukodystrophy 10 [RCV000173021]|not provided [RCV005089871] | pathogenic|likely pathogenic | 1 | 225922043 | 225922043 | Human | 1 | name |
| 10047447 | CV190180 | single nucleotide variant | NM_013328.4(PYCR2):c.751C>T (p.Arg251Cys) | Hypomyelinating leukodystrophy 10 [RCV000173022] | pathogenic | 1 | 225921254 | 225921254 | Human | 1 | name |
| 156217419 | CV1903443 | single nucleotide variant | NM_013328.4(PYCR2):c.596G>A (p.Arg199Gln) | not provided [RCV003084854] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 225921589 | 225921589 | Human | | name |
| 156396787 | CV1924990 | single nucleotide variant | NM_013328.4(PYCR2):c.877G>T (p.Glu293Ter) | not provided [RCV002654985] | uncertain significance | 1 | 225920541 | 225920541 | Human | | name |
| 156446897 | CV1948582 | single nucleotide variant | NM_013328.4(PYCR2):c.607A>G (p.Ile203Val) | not provided [RCV003118416] | uncertain significance | 1 | 225921578 | 225921578 | Human | | name |
| 156155125 | CV1967607 | single nucleotide variant | NM_013328.4(PYCR2):c.559G>A (p.Ala187Thr) | Hypomyelinating leukodystrophy 10 [RCV003157210]|not provided [RCV002594274] | uncertain significance | 1 | 225921626 | 225921626 | Human | 1 | name |
| 156301192 | CV2002179 | single nucleotide variant | NM_013328.4(PYCR2):c.620C>T (p.Ala207Val) | not provided [RCV002671167] | uncertain significance | 1 | 225921565 | 225921565 | Human | | name |
| 155947974 | CV2029078 | single nucleotide variant | NM_013328.4(PYCR2):c.484G>C (p.Val162Leu) | not provided [RCV002730518] | uncertain significance | 1 | 225921914 | 225921914 | Human | | name |
| 156016851 | CV2044125 | single nucleotide variant | NM_013328.4(PYCR2):c.427G>A (p.Val143Met) | not provided [RCV002795390] | uncertain significance | 1 | 225921971 | 225921971 | Human | | name |
| 156224097 | CV2064196 | single nucleotide variant | NM_013328.4(PYCR2):c.346A>G (p.Lys116Glu) | not provided [RCV002829801] | uncertain significance | 1 | 225922052 | 225922052 | Human | | name |
| 155904783 | CV2084100 | single nucleotide variant | NM_013328.4(PYCR2):c.466G>T (p.Val156Leu) | not provided [RCV002858084] | uncertain significance | 1 | 225921932 | 225921932 | Human | | name |
| 156280756 | CV2160955 | single nucleotide variant | NM_013328.4(PYCR2):c.786T>G (p.Cys262Trp) | not provided [RCV003027307] | uncertain significance | 1 | 225921219 | 225921219 | Human | | name |
| 156362130 | CV2265479 | single nucleotide variant | NM_013328.4(PYCR2):c.898C>G (p.Leu300Val) | Inborn genetic diseases [RCV002812984] | uncertain significance | 1 | 225920520 | 225920520 | Human | 1 | name |
| 156051029 | CV2336633 | single nucleotide variant | NM_013328.4(PYCR2):c.416C>G (p.Thr139Ser) | Inborn genetic diseases [RCV002977791] | uncertain significance | 1 | 225921982 | 225921982 | Human | 1 | name |
| 156217566 | CV2348161 | single nucleotide variant | NM_013328.4(PYCR2):c.866G>A (p.Arg289Lys) | Inborn genetic diseases [RCV002985913] | uncertain significance | 1 | 225920552 | 225920552 | Human | 1 | name |
| 243051612 | CV2413625 | single nucleotide variant | NM_013328.4(PYCR2):c.748T>G (p.Phe250Val) | Hypomyelinating leukodystrophy 10 [RCV003130364] | uncertain significance | 1 | 225921257 | 225921257 | Human | 1 | name |
| 11542146 | CV248761 | single nucleotide variant | NM_013328.4(PYCR2):c.796C>T (p.Arg266Ter) | Hypomyelinating leukodystrophy 10 [RCV000240851]|Leukodystrophy [RCV004798819]|not provided [RCV000578599] | pathogenic | 1 | 225921209 | 225921209 | Human | 3 | name |
| 11542149 | CV248762 | single nucleotide variant | NM_013328.4(PYCR2):c.773T>C (p.Val258Ala) | Hypomyelinating leukodystrophy 10 [RCV000240854] | pathogenic|likely pathogenic | 1 | 225921232 | 225921232 | Human | 1 | name |
| 11542151 | CV248763 | single nucleotide variant | NM_013328.4(PYCR2):c.595C>T (p.Arg199Trp) | Hypomyelinating leukodystrophy 10 [RCV000240857]|not provided [RCV005420934] | pathogenic|likely pathogenic|uncertain significance | 1 | 225921590 | 225921590 | Human | 1 | name |
| 11542147 | CV248764 | single nucleotide variant | NM_013328.4(PYCR2):c.694T>G (p.Cys232Gly) | Hypomyelinating leukodystrophy 10 [RCV000240852] | pathogenic | 1 | 225921311 | 225921311 | Human | 1 | name |
| 401964144 | CV2843520 | single nucleotide variant | NM_013328.4(PYCR2):c.577G>A (p.Val193Met) | Hypomyelinating leukodystrophy 10 [RCV003479863] | likely pathogenic | 1 | 225921608 | 225921608 | Human | 1 | name |
| 405173786 | CV2907831 | single nucleotide variant | NM_013328.4(PYCR2):c.334C>T (p.Gln112Ter) | not provided [RCV003563358] | pathogenic | 1 | 225922064 | 225922064 | Human | | name |
| 405151018 | CV3142142 | single nucleotide variant | NM_013328.4(PYCR2):c.547A>G (p.Met183Val) | not provided [RCV003840064] | uncertain significance | 1 | 225921638 | 225921638 | Human | | name |
| 405667598 | CV3312003 | single nucleotide variant | NM_013328.4(PYCR2):c.541G>T (p.Ala181Ser) | Inborn genetic diseases [RCV004440582] | uncertain significance | 1 | 225921644 | 225921644 | Human | 1 | name |
| 407428158 | CV3412363 | single nucleotide variant | NM_013328.4(PYCR2):c.374C>A (p.Pro125His) | not provided [RCV004593531] | uncertain significance | 1 | 225922024 | 225922024 | Human | | name |
| 407475436 | CV3414361 | single nucleotide variant | NM_013328.4(PYCR2):c.686A>G (p.Asp229Gly) | Hypomyelinating leukodystrophy 10 [RCV004596697] | likely pathogenic | 1 | 225921319 | 225921319 | Human | 1 | name |
| 407499499 | CV3464903 | single nucleotide variant | NM_013328.4(PYCR2):c.841G>A (p.Ala281Thr) | Inborn genetic diseases [RCV004669326] | uncertain significance | 1 | 225920577 | 225920577 | Human | 1 | name |
| 597706702 | CV3592497 | single nucleotide variant | NM_013328.4(PYCR2):c.582G>T (p.Lys194Asn) | Inborn genetic diseases [RCV004957414] | uncertain significance | 1 | 225921603 | 225921603 | Human | 1 | name |
| 597706710 | CV3592498 | single nucleotide variant | NM_013328.4(PYCR2):c.548T>C (p.Met183Thr) | Inborn genetic diseases [RCV004957415] | uncertain significance | 1 | 225921637 | 225921637 | Human | 1 | name |
| 597706728 | CV3592500 | single nucleotide variant | NM_013328.4(PYCR2):c.854C>T (p.Thr285Ile) | Inborn genetic diseases [RCV004957417] | uncertain significance | 1 | 225920564 | 225920564 | Human | 1 | name |
| 597706737 | CV3592501 | single nucleotide variant | NM_013328.4(PYCR2):c.459G>A (p.Met153Ile) | Inborn genetic diseases [RCV004957418] | uncertain significance | 1 | 225921939 | 225921939 | Human | 1 | name |
| 597860401 | CV3748670 | single nucleotide variant | NM_013328.4(PYCR2):c.466G>A (p.Val156Met) | not provided [RCV005067302] | uncertain significance | 1 | 225921932 | 225921932 | Human | | name |
| 597942378 | CV3779902 | single nucleotide variant | NM_013328.4(PYCR2):c.439C>T (p.Gln147Ter) | not provided [RCV005118911] | pathogenic | 1 | 225921959 | 225921959 | Human | | name |
| 598203343 | CV3898214 | single nucleotide variant | NM_013328.4(PYCR2):c.868G>C (p.Val290Leu) | Inborn genetic diseases [RCV005269358] | uncertain significance | 1 | 225920550 | 225920550 | Human | 1 | name |
| 598251982 | CV3898216 | single nucleotide variant | NM_013328.4(PYCR2):c.436G>A (p.Gly146Arg) | Inborn genetic diseases [RCV005259342] | uncertain significance | 1 | 225921962 | 225921962 | Human | 1 | name |
| 616935449 | CV4016054 | single nucleotide variant | NM_013328.4(PYCR2):c.356G>T (p.Arg119Leu) | not provided [RCV005414919] | uncertain significance | 1 | 225922042 | 225922042 | Human | | name |
| 12912768 | CV421212 | single nucleotide variant | NM_013328.4(PYCR2):c.356G>A (p.Arg119His) | Hypomyelinating leukodystrophy 10 [RCV000763308]|not provided [RCV000492990] | likely pathogenic | 1 | 225922042 | 225922042 | Human | 1 | name |
| 15169069 | CV732190 | single nucleotide variant | NM_013328.4(PYCR2):c.941C>G (p.Ala314Gly) | not provided [RCV000904985]|not specified [RCV001818779] | benign | 1 | 225920477 | 225920477 | Human | | name |
| 21068745 | CV788735 | single nucleotide variant | NM_013328.4(PYCR2):c.529G>A (p.Gly177Arg) | Hypomyelinating leukodystrophy 10 [RCV000984917] | likely pathogenic|uncertain significance | 1 | 225921869 | 225921869 | Human | 1 | name |
| 38597634 | CV801778 | single nucleotide variant | NM_013328.4(PYCR2):c.437G>A (p.Gly146Glu) | Microcephaly [RCV001252719] | uncertain significance | 1 | 225921961 | 225921961 | Human | 2 | name |
| 40886445 | CV861041 | single nucleotide variant | NM_013328.4(PYCR2):c.400G>A (p.Val134Met) | Hypomyelinating leukodystrophy 10 [RCV001264780] | likely pathogenic | 1 | 225921998 | 225921998 | Human | 1 | name |
| 41408142 | CV980763 | single nucleotide variant | NM_013328.4(PYCR2):c.752G>A (p.Arg251His) | Hypomyelinating leukodystrophy 10 [RCV001823193]|not provided [RCV001281619] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 1 | 225921253 | 225921253 | Human | 1 | name |
| 41408136 | CV980764 | single nucleotide variant | NM_013328.4(PYCR2):c.647T>G (p.Met216Arg) | Hypomyelinating leukodystrophy 10 [RCV005232235]|not provided [RCV001281618] | likely pathogenic|conflicting interpretations of pathogenicity | 1 | 225921358 | 225921358 | Human | 1 | name |
| 156160288 | CV1925221 | microsatellite | NM_013328.4(PYCR2):c.779CCT[1] (p.Ser261del) | not provided [RCV002664220] | uncertain significance | 1 | 225921221 | 225921223 | Human | | name |
| 11634378 | CV270638 | microsatellite | NM_013328.4(PYCR2):c.757_758dup (p.Leu254fs) | Hypomyelinating leukodystrophy 10 [RCV003479093]|not provided [RCV000341655] | pathogenic|likely pathogenic | 1 | 225921246 | 225921247 | Human | | name |
| 402523371 | CV3011337 | deletion | NM_013328.4(PYCR2):c.618_619del (p.Ala207fs) | not provided [RCV003716534] | pathogenic | 1 | 225921566 | 225921567 | Human | | name |
| 407475429 | CV3414360 | deletion | NM_013328.4(PYCR2):c.398_399del (p.Thr133fs) | Hypomyelinating leukodystrophy 10 [RCV004596696] | likely pathogenic | 1 | 225921999 | 225922000 | Human | 1 | name |
| 38458683 | CV918481 | microsatellite | NM_013328.4(PYCR2):c.402_403del (p.Tyr135fs) | Hypomyelinating leukodystrophy 10 [RCV001195302] | likely pathogenic | 1 | 225921995 | 225921996 | Human | | name |
