| 11649137 | CV299617 | single nucleotide variant | NM_003730.6(RNASET2):c.-14C>A | Cystic leukoencephalopathy without megalencephaly [RCV000285738] | uncertain significance | 6 | 166956196 | 166956196 | Human | 1 | name |
| 11657675 | CV306841 | single nucleotide variant | NM_003730.6(RNASET2):c.-32A>G | Cystic leukoencephalopathy without megalencephaly [RCV000343241] | uncertain significance | 6 | 166956214 | 166956214 | Human | 1 | name |
| 11663414 | CV306847 | deletion | NM_003730.6(RNASET2):c.-77del | Cystic leukoencephalopathy without megalencephaly [RCV000395928] | uncertain significance | 6 | 166956259 | 166956259 | Human | 1 | name |
| 28898479 | CV895667 | single nucleotide variant | NM_003730.6(RNASET2):c.-69C>T | Cystic leukoencephalopathy without megalencephaly [RCV001155447] | uncertain significance | 6 | 166956251 | 166956251 | Human | 1 | name |
| 28898480 | CV895668 | single nucleotide variant | NM_003730.6(RNASET2):c.-72C>G | Cystic leukoencephalopathy without megalencephaly [RCV001155448] | uncertain significance | 6 | 166956254 | 166956254 | Human | 1 | name |
| 155986525 | CV1884044 | single nucleotide variant | NM_003730.6(RNASET2):c.87-9T>A | not provided [RCV003075910] | uncertain significance | 6 | 166952557 | 166952557 | Human | | name |
| 11654464 | CV299622 | single nucleotide variant | NM_003730.4(RNASET2):c.-384G>A | Cystic leukoencephalopathy without megalencephaly [RCV000317972] | uncertain significance | 6 | 166956566 | 166956566 | Human | 1 | name |
| 11658119 | CV302163 | single nucleotide variant | NM_003730.6(RNASET2):c.-114G>C | Cystic leukoencephalopathy without megalencephaly [RCV000346705] | uncertain significance | 6 | 166956296 | 166956296 | Human | 1 | name |
| 11653551 | CV302164 | deletion | NM_003730.6(RNASET2):c.-183del | Cystic leukoencephalopathy without megalencephaly [RCV000311840] | uncertain significance | 6 | 166956365 | 166956365 | Human | 1 | name |
| 11589920 | CV302165 | single nucleotide variant | NM_003730.6(RNASET2):c.-251G>C | Cystic leukoencephalopathy without megalencephaly [RCV000314548] | uncertain significance | 6 | 166956433 | 166956433 | Human | 1 | name |
| 11594254 | CV302176 | single nucleotide variant | NM_003730.6(RNASET2):c.-392G>C | Cystic leukoencephalopathy without megalencephaly [RCV000357502] | uncertain significance | 6 | 166956574 | 166956574 | Human | 1 | name |
| 11649828 | CV306548 | single nucleotide variant | NM_003730.6(RNASET2):c.-104G>T | Cystic leukoencephalopathy without megalencephaly [RCV000289439] | uncertain significance | 6 | 166956286 | 166956286 | Human | 1 | name |
| 11663697 | CV306551 | single nucleotide variant | NM_003730.6(RNASET2):c.-176C>T | Cystic leukoencephalopathy without megalencephaly [RCV000398539] | uncertain significance | 6 | 166956358 | 166956358 | Human | 1 | name |
| 11612022 | CV306552 | single nucleotide variant | NM_003730.6(RNASET2):c.-227G>T | Cystic leukoencephalopathy without megalencephaly [RCV000402342] | benign | 6 | 166956409 | 166956409 | Human | 1 | name |
| 11598829 | CV306554 | single nucleotide variant | NM_003730.6(RNASET2):c.-322T>C | Cystic leukoencephalopathy without megalencephaly [RCV000260374] | benign | 6 | 166956504 | 166956504 | Human | 1 | name |
| 11599412 | CV306565 | single nucleotide variant | NM_003730.4(RNASET2):c.-396T>C | Cystic leukoencephalopathy without megalencephaly [RCV000264966] | uncertain significance | 6 | 166956578 | 166956578 | Human | 1 | name |
| 11609469 | CV306859 | single nucleotide variant | NM_003730.6(RNASET2):c.-203G>A | Cystic leukoencephalopathy without megalencephaly [RCV000368868] | uncertain significance | 6 | 166956385 | 166956385 | Human | 1 | name |
| 11608281 | CV306861 | single nucleotide variant | NM_003730.6(RNASET2):c.-321G>T | Cystic leukoencephalopathy without megalencephaly [RCV000352982] | benign|likely benign | 6 | 166956503 | 166956503 | Human | 1 | name |
| 597976008 | CV3829024 | single nucleotide variant | NM_003730.6(RNASET2):c.86+9C>T | not provided [RCV005169473] | likely benign | 6 | 166956088 | 166956088 | Human | | name |
| 28898482 | CV895669 | single nucleotide variant | NM_003730.6(RNASET2):c.-155C>T | Cystic leukoencephalopathy without megalencephaly [RCV001155449] | uncertain significance | 6 | 166956337 | 166956337 | Human | 1 | name |
| 28902447 | CV895670 | single nucleotide variant | NM_003730.6(RNASET2):c.-221G>A | Cystic leukoencephalopathy without megalencephaly [RCV001157124] | uncertain significance | 6 | 166956403 | 166956403 | Human | 1 | name |
| 127261696 | CV1087334 | single nucleotide variant | NM_003730.6(RNASET2):c.148-1G>T | Cystic leukoencephalopathy without megalencephaly [RCV001420593] | likely pathogenic | 6 | 166948626 | 166948626 | Human | 1 | name |
| 8555620 | CV15453 | single nucleotide variant | NM_003730.6(RNASET2):c.262-2A>G | Cystic leukoencephalopathy without megalencephaly [RCV000000442] | pathogenic | 6 | 166943091 | 166943091 | Human | 1 | name |
| 8555621 | CV15454 | deletion | NM_003730.6(RNASET2):c.332+1del | Cystic leukoencephalopathy without megalencephaly [RCV000000443] | pathogenic | 6 | 166943018 | 166943018 | Human | 1 | name |
| 156419173 | CV1926205 | single nucleotide variant | NM_003730.6(RNASET2):c.87-12A>C | not provided [RCV002612392] | likely benign | 6 | 166952560 | 166952560 | Human | | name |
| 156442369 | CV1938595 | single nucleotide variant | NM_003730.6(RNASET2):c.446+8C>T | not provided [RCV003112710] | likely benign | 6 | 166938887 | 166938887 | Human | | name |
| 156195725 | CV2171534 | single nucleotide variant | NM_003730.6(RNASET2):c.333-7C>A | not provided [RCV003024280] | likely benign | 6 | 166939015 | 166939015 | Human | | name |
| 156330294 | CV2180942 | single nucleotide variant | NM_003730.6(RNASET2):c.493-5A>G | not provided [RCV003047169] | uncertain significance | 6 | 166931123 | 166931123 | Human | | name |
| 243060216 | CV2413762 | single nucleotide variant | NM_003730.6(RNASET2):c.261+3A>G | Cystic leukoencephalopathy without megalencephaly [RCV003135781] | uncertain significance | 6 | 166946679 | 166946679 | Human | 1 | name |
| 401798482 | CV2741511 | single nucleotide variant | NM_003730.6(RNASET2):c.332+1G>T | Cystic leukoencephalopathy without megalencephaly [RCV003322730] | pathogenic | 6 | 166943018 | 166943018 | Human | 1 | name |
| 402521259 | CV2871153 | single nucleotide variant | NM_003730.6(RNASET2):c.203+7G>A | not provided [RCV003547714] | likely benign | 6 | 166948563 | 166948563 | Human | | name |
| 405150843 | CV2956937 | single nucleotide variant | NM_003730.6(RNASET2):c.147+8T>C | not provided [RCV003669987] | likely benign | 6 | 166952480 | 166952480 | Human | | name |
| 11595644 | CV302160 | single nucleotide variant | NM_003730.6(RNASET2):c.147+3G>A | Cystic leukoencephalopathy without megalencephaly [RCV000372996]|not provided [RCV000960564] | benign|likely benign | 6 | 166952485 | 166952485 | Human | 1 | name |
| 28887899 | CV896214 | single nucleotide variant | NM_003730.6(RNASET2):c.568-4T>C | Cystic leukoencephalopathy without megalencephaly [RCV001151595]|not provided [RCV005093652] | likely benign|uncertain significance | 6 | 166929795 | 166929795 | Human | 1 | name |
| 152031850 | CV1546155 | single nucleotide variant | NM_003730.6(RNASET2):c.446+17C>A | not provided [RCV002124645] | benign | 6 | 166938878 | 166938878 | Human | | name |
| 152123781 | CV1546413 | single nucleotide variant | NM_003730.6(RNASET2):c.148-20T>A | not provided [RCV002118177] | benign | 6 | 166948645 | 166948645 | Human | | name |
| 152138681 | CV1549568 | single nucleotide variant | NM_003730.6(RNASET2):c.261+14A>T | not provided [RCV002156475] | likely benign | 6 | 166946668 | 166946668 | Human | | name |
| 152060654 | CV1557358 | single nucleotide variant | NM_003730.6(RNASET2):c.568-17T>C | not provided [RCV002146734] | benign | 6 | 166929808 | 166929808 | Human | | name |
| 152094252 | CV1565724 | single nucleotide variant | NM_003730.6(RNASET2):c.493-14G>A | not provided [RCV002150989] | likely benign | 6 | 166931132 | 166931132 | Human | | name |
| 152069465 | CV1570999 | single nucleotide variant | NM_003730.6(RNASET2):c.147+20C>T | not provided [RCV002129415] | benign | 6 | 166952468 | 166952468 | Human | | name |
| 152107559 | CV1581924 | duplication | NM_003730.6(RNASET2):c.567+12dup | not provided [RCV002079810] | likely benign | 6 | 166931031 | 166931032 | Human | | name |
| 152149491 | CV1583109 | single nucleotide variant | NM_003730.6(RNASET2):c.568-20C>A | not provided [RCV002102009] | benign | 6 | 166929811 | 166929811 | Human | | name |
| 152128607 | CV1583775 | single nucleotide variant | NM_003730.6(RNASET2):c.447-14A>T | not provided [RCV002199020] | likely benign | 6 | 166934150 | 166934150 | Human | | name |
| 152029155 | CV1599638 | single nucleotide variant | NM_003730.6(RNASET2):c.446+19C>T | not provided [RCV002085706] | likely benign | 6 | 166938876 | 166938876 | Human | | name |
| 152105836 | CV1614764 | single nucleotide variant | NM_003730.6(RNASET2):c.147+12T>C | not provided [RCV002079597] | benign | 6 | 166952476 | 166952476 | Human | | name |
| 152025985 | CV1627770 | single nucleotide variant | NM_003730.6(RNASET2):c.261+17A>G | not provided [RCV002104399] | benign|likely benign | 6 | 166946665 | 166946665 | Human | | name |
| 152026020 | CV1666161 | single nucleotide variant | NM_003730.6(RNASET2):c.446+12C>T | not provided [RCV002084660] | likely benign | 6 | 166938883 | 166938883 | Human | | name |
| 156054179 | CV1924053 | single nucleotide variant | NM_003730.6(RNASET2):c.446+20G>A | not provided [RCV002638048] | likely benign | 6 | 166938875 | 166938875 | Human | | name |
| 156442952 | CV1945925 | single nucleotide variant | NM_003730.6(RNASET2):c.332+12C>G | not provided [RCV003113312] | likely benign | 6 | 166943007 | 166943007 | Human | | name |
| 155921668 | CV2023842 | single nucleotide variant | NM_003730.6(RNASET2):c.492+18T>C | not provided [RCV002750746] | likely benign | 6 | 166934073 | 166934073 | Human | | name |
| 156211680 | CV2074272 | single nucleotide variant | NM_003730.6(RNASET2):c.446+16C>G | not provided [RCV002829321] | likely benign | 6 | 166938879 | 166938879 | Human | | name |
| 156321519 | CV2101049 | single nucleotide variant | NM_003730.6(RNASET2):c.568-19T>C | not provided [RCV002899326] | likely benign | 6 | 166929810 | 166929810 | Human | | name |
| 405239322 | CV2891369 | single nucleotide variant | NM_003730.6(RNASET2):c.147+16T>C | not provided [RCV003556842] | likely benign | 6 | 166952472 | 166952472 | Human | | name |
| 405014061 | CV2997684 | single nucleotide variant | NM_003730.6(RNASET2):c.332+16T>C | not provided [RCV003694148] | likely benign | 6 | 166943003 | 166943003 | Human | | name |
| 38457178 | CV920226 | single nucleotide variant | NM_003730.6(RNASET2):c.204-14A>G | Cystic leukoencephalopathy without megalencephaly [RCV001196498] | uncertain significance | 6 | 166946753 | 166946753 | Human | 1 | name |
| 401727009 | CV2736221 | single nucleotide variant | NM_003730.6(RNASET2):c.446+131G>A | not provided [RCV003312669] | likely benign | 6 | 166938764 | 166938764 | Human | | name |
| 152110317 | CV1638154 | microsatellite | NM_003730.6(RNASET2):c.147+7_147+8del | not provided [RCV002196682] | likely benign | 6 | 166952480 | 166952481 | Human | | name |
| 13519094 | CV486412 | duplication | NM_003730.6(RNASET2):c.261+3_261+5dup | not provided [RCV000585362]|not specified [RCV005056248] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 6 | 166946676 | 166946677 | Human | | name |
| 152111984 | CV1658489 | single nucleotide variant | NM_003730.6(RNASET2):c.24G>A (p.Gly8=) | not provided [RCV002215619] | likely benign | 6 | 166956159 | 166956159 | Human | | name |
| 155946774 | CV2062270 | single nucleotide variant | NM_003730.6(RNASET2):c.15C>T (p.Ala5=) | not provided [RCV002816030] | likely benign | 6 | 166956168 | 166956168 | Human | | name |
| 11585596 | CV299616 | single nucleotide variant | NM_003730.6(RNASET2):c.21C>T (p.Arg7=) | Cystic leukoencephalopathy without megalencephaly [RCV000282275]|not provided [RCV001517055] | benign|likely benign | 6 | 166956162 | 166956162 | Human | 1 | name |
| 11605527 | CV306835 | single nucleotide variant | NM_003730.6(RNASET2):c.16C>T (p.Leu6=) | Cystic leukoencephalopathy without megalencephaly [RCV000320929]|not provided [RCV001518666] | benign|likely benign | 6 | 166956167 | 166956167 | Human | 1 | name |
| 152135813 | CV1528371 | single nucleotide variant | NM_003730.6(RNASET2):c.81C>G (p.Arg27=) | not provided [RCV002100101] | likely benign | 6 | 166956102 | 166956102 | Human | | name |
| 156369302 | CV1919988 | single nucleotide variant | NM_003730.6(RNASET2):c.31C>T (p.Leu11=) | not provided [RCV002603050] | benign | 6 | 166956152 | 166956152 | Human | | name |
| 155954782 | CV2043953 | single nucleotide variant | NM_003730.6(RNASET2):c.78G>A (p.Lys26=) | not provided [RCV002775963] | likely benign | 6 | 166956105 | 166956105 | Human | | name |
| 155909448 | CV2073034 | single nucleotide variant | NM_003730.6(RNASET2):c.93C>T (p.Asn31=) | not provided [RCV002837598] | likely benign | 6 | 166952542 | 166952542 | Human | | name |
| 405199976 | CV3147117 | single nucleotide variant | NM_003730.6(RNASET2):c.69T>A (p.Gly23=) | not provided [RCV003844277] | likely benign | 6 | 166956114 | 166956114 | Human | | name |
| 405219555 | CV3154256 | single nucleotide variant | NM_003730.6(RNASET2):c.66C>A (p.Gly22=) | not provided [RCV003846948] | likely benign | 6 | 166956117 | 166956117 | Human | | name |
| 15127941 | CV782492 | single nucleotide variant | NM_003730.6(RNASET2):c.82C>T (p.Leu28=) | not provided [RCV000980627] | likely benign | 6 | 166956101 | 166956101 | Human | | name |
| 152120517 | CV1574254 | single nucleotide variant | NM_003730.6(RNASET2):c.297C>T (p.Asp99=) | not provided [RCV002175514] | likely benign | 6 | 166943054 | 166943054 | Human | | name |
| 156160063 | CV2009430 | single nucleotide variant | NM_003730.6(RNASET2):c.22G>C (p.Gly8Arg) | not provided [RCV002710137] | uncertain significance | 6 | 166956161 | 166956161 | Human | | name |
| 156340459 | CV2186792 | single nucleotide variant | NM_003730.6(RNASET2):c.10G>A (p.Ala4Thr) | not provided [RCV003064203] | uncertain significance | 6 | 166956173 | 166956173 | Human | | name |
| 405242106 | CV3070399 | single nucleotide variant | NM_003730.6(RNASET2):c.144C>T (p.Cys48=) | not provided [RCV003737406] | likely benign | 6 | 166952491 | 166952491 | Human | | name |
| 405108359 | CV3136602 | single nucleotide variant | NM_003730.6(RNASET2):c.159C>T (p.Asn53=) | not provided [RCV003835756] | likely benign | 6 | 166948614 | 166948614 | Human | | name |
| 15109156 | CV710328 | single nucleotide variant | NM_003730.6(RNASET2):c.207C>T (p.Pro69=) | Cystic leukoencephalopathy without megalencephaly [RCV001154609]|not provided [RCV000960641] | likely benign|uncertain significance | 6 | 166946736 | 166946736 | Human | 1 | name |
| 15170642 | CV721877 | single nucleotide variant | NM_003730.6(RNASET2):c.201A>G (p.Leu67=) | not provided [RCV000883508] | likely benign | 6 | 166948572 | 166948572 | Human | | name |
| 15145767 | CV749973 | single nucleotide variant | NM_003730.6(RNASET2):c.195T>C (p.His65=) | not provided [RCV000922601] | likely benign | 6 | 166948578 | 166948578 | Human | | name |
| 28877938 | CV861625 | single nucleotide variant | NM_003730.6(RNASET2):c.22G>A (p.Gly8Arg) | Cystic leukoencephalopathy without megalencephaly [RCV001095751] | uncertain significance | 6 | 166956161 | 166956161 | Human | 1 | name |
| 151715491 | CV1392722 | single nucleotide variant | NM_003730.6(RNASET2):c.44G>A (p.Cys15Tyr) | not provided [RCV001908887] | uncertain significance | 6 | 166956139 | 166956139 | Human | | name |
| 8555623 | CV15456 | single nucleotide variant | NM_003730.6(RNASET2):c.567G>A (p.Gln189=) | Cystic leukoencephalopathy without megalencephaly [RCV000000445] | pathogenic|uncertain significance | 6 | 166931044 | 166931044 | Human | 1 | name |
| 152131158 | CV1567956 | single nucleotide variant | NM_003730.6(RNASET2):c.309G>A (p.Ser103=) | not provided [RCV002218090] | likely benign | 6 | 166943042 | 166943042 | Human | | name |
| 152029666 | CV1602533 | single nucleotide variant | NM_003730.6(RNASET2):c.642C>T (p.Thr214=) | not provided [RCV002105664] | likely benign | 6 | 166929717 | 166929717 | Human | | name |
| 152034302 | CV1621531 | single nucleotide variant | NM_003730.6(RNASET2):c.735A>T (p.Pro245=) | not provided [RCV002205323] | likely benign | 6 | 166929624 | 166929624 | Human | | name |
| 156113634 | CV1985064 | single nucleotide variant | NM_003730.6(RNASET2):c.732C>T (p.Gly244=) | not provided [RCV002622675] | likely benign | 6 | 166929627 | 166929627 | Human | | name |
| 155944087 | CV2143176 | single nucleotide variant | NM_003730.6(RNASET2):c.351G>A (p.Lys117=) | not provided [RCV002994240] | likely benign | 6 | 166938990 | 166938990 | Human | | name |
| 156146188 | CV2196859 | single nucleotide variant | NM_003730.6(RNASET2):c.83T>C (p.Leu28Pro) | Inborn genetic diseases [RCV002641586] | uncertain significance | 6 | 166956100 | 166956100 | Human | 1 | name |
| 11595038 | CV299610 | single nucleotide variant | NM_003730.6(RNASET2):c.534G>A (p.Val178=) | Cystic leukoencephalopathy without megalencephaly [RCV000366135]|not provided [RCV002058577] | likely benign|uncertain significance | 6 | 166931077 | 166931077 | Human | 1 | name |
| 11595320 | CV299611 | single nucleotide variant | NM_003730.6(RNASET2):c.360C>A (p.Thr120=) | Cystic leukoencephalopathy without megalencephaly [RCV000369431]|not provided [RCV002523561] | likely benign|uncertain significance | 6 | 166938981 | 166938981 | Human | 1 | name |
| 11583865 | CV302140 | single nucleotide variant | NM_003730.6(RNASET2):c.648G>A (p.Pro216=) | Cystic leukoencephalopathy without megalencephaly [RCV000269870]|not provided [RCV001514238] | benign|likely benign | 6 | 166929711 | 166929711 | Human | 1 | name |
| 11584466 | CV302143 | single nucleotide variant | NM_003730.6(RNASET2):c.516T>C (p.Leu172=) | Cystic leukoencephalopathy without megalencephaly [RCV000273891]|not provided [RCV001509842] | benign | 6 | 166931095 | 166931095 | Human | 1 | name |
| 402470345 | CV3171033 | single nucleotide variant | NM_003730.6(RNASET2):c.363C>T (p.Cys121=) | not provided [RCV003873996] | likely benign | 6 | 166938978 | 166938978 | Human | | name |
| 402509282 | CV3182070 | single nucleotide variant | NM_003730.6(RNASET2):c.699C>T (p.Ala233=) | not provided [RCV003878723] | likely benign | 6 | 166929660 | 166929660 | Human | | name |
| 597899561 | CV3835211 | single nucleotide variant | NM_003730.6(RNASET2):c.474A>G (p.Pro158=) | not provided [RCV005180931] | likely benign | 6 | 166934109 | 166934109 | Human | | name |
| 597871420 | CV3835680 | single nucleotide variant | NM_003730.6(RNASET2):c.504T>C (p.Phe168=) | not provided [RCV005176671] | likely benign | 6 | 166931107 | 166931107 | Human | | name |
| 15155018 | CV710325 | single nucleotide variant | NM_003730.6(RNASET2):c.660G>A (p.Pro220=) | Cystic leukoencephalopathy without megalencephaly [RCV001157009]|not provided [RCV000968845] | likely benign|uncertain significance | 6 | 166929699 | 166929699 | Human | 1 | name |
| 15128968 | CV710326 | single nucleotide variant | NM_003730.6(RNASET2):c.426C>T (p.Tyr142=) | Cystic leukoencephalopathy without megalencephaly [RCV001151597]|RNASET2-related disorder [RCV003960754]|not provided [RCV000964178] | benign | 6 | 166938915 | 166938915 | Human | 1 | name , trait , alternate_id |
| 15193077 | CV735529 | single nucleotide variant | NM_003730.6(RNASET2):c.696C>T (p.Ala232=) | Cystic leukoencephalopathy without megalencephaly [RCV001157008]|not provided [RCV000910736] | benign|likely benign | 6 | 166929663 | 166929663 | Human | 1 | name |
| 15141444 | CV749971 | single nucleotide variant | NM_003730.6(RNASET2):c.381G>A (p.Ala127=) | RNASET2-related disorder [RCV003933105]|not provided [RCV000921842] | likely benign | 6 | 166938960 | 166938960 | Human | 1 | name , trait , alternate_id |
| 15145344 | CV749972 | single nucleotide variant | NM_003730.6(RNASET2):c.366C>T (p.Ala122=) | not provided [RCV000922526] | likely benign | 6 | 166938975 | 166938975 | Human | | name |
| 15199150 | CV765584 | single nucleotide variant | NM_003730.6(RNASET2):c.765G>A (p.Lys255=) | RNASET2-related disorder [RCV003960509]|not provided [RCV000935020] | likely benign | 6 | 166929594 | 166929594 | Human | 1 | name , trait , alternate_id |
| 15172100 | CV765585 | single nucleotide variant | NM_003730.6(RNASET2):c.660G>T (p.Pro220=) | not provided [RCV000928042] | likely benign | 6 | 166929699 | 166929699 | Human | | name |
| 15129074 | CV782491 | single nucleotide variant | NM_003730.6(RNASET2):c.510T>C (p.Asp170=) | not provided [RCV000980818] | likely benign | 6 | 166931101 | 166931101 | Human | | name |
| 28902157 | CV895665 | single nucleotide variant | NM_003730.6(RNASET2):c.648G>C (p.Pro216=) | Cystic leukoencephalopathy without megalencephaly [RCV001157010]|not provided [RCV002070931] | likely benign|uncertain significance | 6 | 166929711 | 166929711 | Human | 1 | name |
| 8555619 | CV15452 | deletion | NM_003730.6(RNASET2):c.87-1341_147+1181del | Cystic leukoencephalopathy without megalencephaly [RCV000000441] | pathogenic | 6 | 166951307 | 166953889 | Human | 1 | name |
| 156373931 | CV1875011 | single nucleotide variant | NM_003730.6(RNASET2):c.160G>A (p.Asp54Asn) | not provided [RCV003066537] | uncertain significance | 6 | 166948613 | 166948613 | Human | | name |
| 156152569 | CV1875210 | single nucleotide variant | NM_003730.6(RNASET2):c.245A>G (p.Asn82Ser) | not provided [RCV003056588] | uncertain significance | 6 | 166946698 | 166946698 | Human | | name |
| 156329342 | CV1881179 | single nucleotide variant | NM_003730.6(RNASET2):c.291G>A (p.Trp97Ter) | not provided [RCV003063601] | pathogenic | 6 | 166943060 | 166943060 | Human | | name |
| 156125802 | CV2036305 | single nucleotide variant | NM_003730.6(RNASET2):c.287A>G (p.Tyr96Cys) | not provided [RCV002785972] | uncertain significance | 6 | 166943064 | 166943064 | Human | | name |
| 155964572 | CV2210009 | single nucleotide variant | NM_003730.6(RNASET2):c.154C>T (p.Gln52Ter) | Inborn genetic diseases [RCV002686942]|not provided [RCV003777611] | pathogenic | 6 | 166948619 | 166948619 | Human | 1 | name |
| 11654238 | CV302151 | single nucleotide variant | NM_003730.6(RNASET2):c.224G>A (p.Cys75Tyr) | Cystic leukoencephalopathy without megalencephaly [RCV000315978] | uncertain significance | 6 | 166946719 | 166946719 | Human | 1 | name |
| 405261079 | CV3186046 | single nucleotide variant | NM_003730.6(RNASET2):c.247T>A (p.Leu83Ile) | not provided [RCV003885122] | uncertain significance | 6 | 166946696 | 166946696 | Human | | name |
| 405754085 | CV3316346 | single nucleotide variant | NM_003730.6(RNASET2):c.186G>T (p.Trp62Cys) | Inborn genetic diseases [RCV004454231] | uncertain significance | 6 | 166948587 | 166948587 | Human | 1 | name |
| 405754092 | CV3316347 | single nucleotide variant | NM_003730.6(RNASET2):c.265C>A (p.Leu89Ile) | Inborn genetic diseases [RCV004454232] | uncertain significance | 6 | 166943086 | 166943086 | Human | 1 | name |
| 596921296 | CV3534940 | single nucleotide variant | NM_003730.6(RNASET2):c.289T>A (p.Trp97Arg) | not provided [RCV004784498] | uncertain significance | 6 | 166943062 | 166943062 | Human | | name |
| 597718719 | CV3593901 | single nucleotide variant | NM_003730.6(RNASET2):c.256A>G (p.Ile86Val) | Inborn genetic diseases [RCV004960178] | uncertain significance | 6 | 166946687 | 166946687 | Human | 1 | name |
| 598230444 | CV3899355 | single nucleotide variant | NM_003730.6(RNASET2):c.208G>A (p.Asp70Asn) | Inborn genetic diseases [RCV005274347] | uncertain significance | 6 | 166946735 | 166946735 | Human | 1 | name |
| 13214456 | CV428599 | duplication | NM_003730.6(RNASET2):c.710dup (p.Leu238fs) | Cystic leukoencephalopathy without megalencephaly [RCV000501289]|not specified [RCV004689766] | likely pathogenic|uncertain significance | 6 | 166929648 | 166929649 | Human | 1 | name |
| 15108667 | CV710327 | single nucleotide variant | NM_003730.6(RNASET2):c.214A>G (p.Ser72Gly) | Cystic leukoencephalopathy without megalencephaly [RCV001154608]|RNASET2-related disorder [RCV003926127]|not provided [RCV000960534] | benign|likely benign | 6 | 166946729 | 166946729 | Human | 1 | name , trait , alternate_id |
| 38598399 | CV861086 | single nucleotide variant | NM_003730.6(RNASET2):c.233C>A (p.Ser78Ter) | Cystic leukoencephalopathy without megalencephaly [RCV001254880] | pathogenic|uncertain significance | 6 | 166946710 | 166946710 | Human | 1 | name |
| 38457180 | CV919021 | single nucleotide variant | NM_003730.6(RNASET2):c.131C>T (p.Pro44Leu) | Cystic leukoencephalopathy without megalencephaly [RCV001196499]|Inborn genetic diseases [RCV003346352]|not provided [RCV001876274] | uncertain significance | 6 | 166952504 | 166952504 | Human | 2 | name |
| 126769808 | CV1027086 | single nucleotide variant | NM_003730.6(RNASET2):c.610A>G (p.Thr204Ala) | Inborn genetic diseases [RCV002547003]|not provided [RCV001344128] | uncertain significance | 6 | 166929749 | 166929749 | Human | 1 | name |
| 151758786 | CV1340582 | single nucleotide variant | NM_003730.6(RNASET2):c.647C>G (p.Pro216Arg) | not provided [RCV001913737] | uncertain significance | 6 | 166929712 | 166929712 | Human | | name |
| 151798030 | CV1352684 | single nucleotide variant | NM_003730.6(RNASET2):c.346G>A (p.Glu116Lys) | not provided [RCV001877121] | uncertain significance | 6 | 166938995 | 166938995 | Human | | name |
| 151852256 | CV1360981 | single nucleotide variant | NM_003730.6(RNASET2):c.601C>G (p.Leu201Val) | not provided [RCV001904254] | uncertain significance | 6 | 166929758 | 166929758 | Human | | name |
| 151768689 | CV1411113 | single nucleotide variant | NM_003730.6(RNASET2):c.680G>C (p.Trp227Ser) | not provided [RCV002045028] | uncertain significance | 6 | 166929679 | 166929679 | Human | | name |
| 151870631 | CV1417155 | single nucleotide variant | NM_003730.6(RNASET2):c.751C>T (p.Pro251Ser) | not provided [RCV001998285] | uncertain significance | 6 | 166929608 | 166929608 | Human | | name |
| 8555618 | CV15451 | single nucleotide variant | NM_003730.6(RNASET2):c.550T>C (p.Cys184Arg) | Cystic leukoencephalopathy without megalencephaly [RCV000000440] | pathogenic | 6 | 166931061 | 166931061 | Human | 1 | name |
| 152155649 | CV1620535 | single nucleotide variant | NM_003730.6(RNASET2):c.320G>A (p.Arg107His) | Inborn genetic diseases [RCV003007125]|not provided [RCV002122376] | likely benign|uncertain significance | 6 | 166943031 | 166943031 | Human | 1 | name |
| 156318789 | CV1897663 | single nucleotide variant | NM_003730.6(RNASET2):c.448G>T (p.Val150Leu) | not provided [RCV002579110] | uncertain significance | 6 | 166934135 | 166934135 | Human | | name |
| 156414409 | CV1912208 | single nucleotide variant | NM_003730.6(RNASET2):c.325C>T (p.Arg109Cys) | not provided [RCV002588594] | uncertain significance | 6 | 166943026 | 166943026 | Human | | name |
| 156411856 | CV1973758 | single nucleotide variant | NM_003730.6(RNASET2):c.640A>G (p.Thr214Ala) | not provided [RCV002608370] | uncertain significance | 6 | 166929719 | 166929719 | Human | | name |
| 156049292 | CV1974299 | single nucleotide variant | NM_003730.6(RNASET2):c.668A>C (p.Lys223Thr) | not provided [RCV002590604] | uncertain significance | 6 | 166929691 | 166929691 | Human | | name |
| 156341403 | CV1984924 | single nucleotide variant | NM_003730.6(RNASET2):c.590G>A (p.Gly197Asp) | not provided [RCV002631449] | uncertain significance | 6 | 166929769 | 166929769 | Human | | name |
| 156364618 | CV2013878 | single nucleotide variant | NM_003730.6(RNASET2):c.367G>A (p.Ala123Thr) | not provided [RCV002721098] | uncertain significance | 6 | 166938974 | 166938974 | Human | | name |
| 156026086 | CV2025710 | single nucleotide variant | NM_003730.6(RNASET2):c.532G>A (p.Val178Met) | not provided [RCV002735603] | uncertain significance | 6 | 166931079 | 166931079 | Human | | name |
| 156096305 | CV2132057 | single nucleotide variant | NM_003730.6(RNASET2):c.600A>T (p.Glu200Asp) | Inborn genetic diseases [RCV004960873]|not provided [RCV003002036] | uncertain significance | 6 | 166929759 | 166929759 | Human | 1 | name |
| 156212695 | CV2176373 | single nucleotide variant | NM_003730.6(RNASET2):c.523G>A (p.Val175Ile) | not provided [RCV003024868] | uncertain significance | 6 | 166931088 | 166931088 | Human | | name |
| 156087817 | CV2184601 | single nucleotide variant | NM_003730.6(RNASET2):c.521G>C (p.Arg174Thr) | not provided [RCV003054252] | uncertain significance | 6 | 166931090 | 166931090 | Human | | name |
| 156170434 | CV2197896 | single nucleotide variant | NM_003730.6(RNASET2):c.647C>T (p.Pro216Leu) | Inborn genetic diseases [RCV002664690] | uncertain significance | 6 | 166929712 | 166929712 | Human | 1 | name |
| 156140715 | CV2212220 | single nucleotide variant | NM_003730.6(RNASET2):c.326G>A (p.Arg109His) | Inborn genetic diseases [RCV002697031] | likely benign | 6 | 166943025 | 166943025 | Human | 1 | name |
| 156071120 | CV2381369 | single nucleotide variant | NM_003730.6(RNASET2):c.500A>G (p.Asp167Gly) | Inborn genetic diseases [RCV002693975] | uncertain significance | 6 | 166931111 | 166931111 | Human | 1 | name |
| 243060215 | CV2413761 | single nucleotide variant | NM_003730.6(RNASET2):c.705C>A (p.Ser235Arg) | Cystic leukoencephalopathy without megalencephaly [RCV003135780] | uncertain significance | 6 | 166929654 | 166929654 | Human | 1 | name |
| 243051573 | CV2413763 | single nucleotide variant | NM_003730.6(RNASET2):c.502T>C (p.Phe168Leu) | Cystic leukoencephalopathy without megalencephaly [RCV003130414] | uncertain significance | 6 | 166931109 | 166931109 | Human | 1 | name |
| 329391747 | CV2453089 | single nucleotide variant | NM_003730.6(RNASET2):c.380C>G (p.Ala127Gly) | Inborn genetic diseases [RCV003217423] | uncertain significance | 6 | 166938961 | 166938961 | Human | 1 | name |
| 329377675 | CV2462797 | single nucleotide variant | NM_003730.6(RNASET2):c.499G>C (p.Asp167His) | Inborn genetic diseases [RCV003211950] | uncertain significance | 6 | 166931112 | 166931112 | Human | 1 | name |
| 329399530 | CV2470140 | single nucleotide variant | NM_003730.6(RNASET2):c.749C>T (p.Pro250Leu) | Inborn genetic diseases [RCV003220968] | uncertain significance | 6 | 166929610 | 166929610 | Human | 1 | name |
| 11598036 | CV299596 | single nucleotide variant | NM_003730.6(RNASET2):c.741C>A (p.Phe247Leu) | Cystic leukoencephalopathy without megalencephaly [RCV000400857]|not provided [RCV000892106] | likely benign|uncertain significance | 6 | 166929618 | 166929618 | Human | 1 | name |
| 11594717 | CV299597 | single nucleotide variant | NM_003730.6(RNASET2):c.652G>A (p.Glu218Lys) | Cystic leukoencephalopathy without megalencephaly [RCV000362169]|not provided [RCV003574759] | likely benign|uncertain significance | 6 | 166929707 | 166929707 | Human | 1 | name |
| 11588702 | CV302139 | single nucleotide variant | NM_003730.6(RNASET2):c.706C>T (p.Arg236Trp) | Cystic leukoencephalopathy without megalencephaly [RCV000305139]|not provided [RCV001515723] | benign|likely benign|conflicting interpretations of pathogenicity | 6 | 166929653 | 166929654 | Human | 4 | name |
| 11588702 | CV302139 | single nucleotide variant | NM_003730.6(RNASET2):c.706C>T (p.Arg236Trp) | Cystic leukoencephalopathy without megalencephaly [RCV000305139]|not provided [RCV001515723] | benign|likely benign|conflicting interpretations of pathogenicity | 6 | 166929653 | 166929653 | Human | 4 | name |
| 11589239 | CV302141 | single nucleotide variant | NM_003730.6(RNASET2):c.643G>A (p.Glu215Lys) | Cystic leukoencephalopathy without megalencephaly [RCV000309087]|RNASET2-related disorder [RCV003912521]|not provided [RCV000439457] | benign|likely benign|uncertain significance | 6 | 166929716 | 166929716 | Human | 1 | name , trait , alternate_id |
| 11606395 | CV306815 | single nucleotide variant | NM_003730.6(RNASET2):c.380C>T (p.Ala127Val) | Cystic leukoencephalopathy without megalencephaly [RCV000331283] | uncertain significance | 6 | 166938961 | 166938961 | Human | 1 | name |
| 11600820 | CV306816 | single nucleotide variant | NM_003730.6(RNASET2):c.325C>A (p.Arg109Ser) | Cystic leukoencephalopathy without megalencephaly [RCV000277212] | uncertain significance | 6 | 166943026 | 166943026 | Human | 1 | name |
| 405754098 | CV3316348 | single nucleotide variant | NM_003730.6(RNASET2):c.512C>T (p.Ala171Val) | Inborn genetic diseases [RCV004454233] | uncertain significance | 6 | 166931099 | 166931099 | Human | 1 | name |
| 407475971 | CV3483447 | single nucleotide variant | NM_003730.6(RNASET2):c.664C>T (p.Pro222Ser) | Inborn genetic diseases [RCV004663360] | uncertain significance | 6 | 166929695 | 166929695 | Human | 1 | name |
| 597718711 | CV3593900 | single nucleotide variant | NM_003730.6(RNASET2):c.316A>C (p.Asn106His) | Inborn genetic diseases [RCV004960177] | uncertain significance | 6 | 166943035 | 166943035 | Human | 1 | name |
| 597718722 | CV3593903 | single nucleotide variant | NM_003730.6(RNASET2):c.715A>G (p.Arg239Gly) | Inborn genetic diseases [RCV004960179] | uncertain significance | 6 | 166929644 | 166929644 | Human | 1 | name |
| 597718729 | CV3593904 | single nucleotide variant | NM_003730.6(RNASET2):c.682C>A (p.Leu228Met) | Inborn genetic diseases [RCV004960180] | uncertain significance | 6 | 166929677 | 166929677 | Human | 1 | name |
| 598230448 | CV3899356 | single nucleotide variant | NM_003730.6(RNASET2):c.511G>T (p.Ala171Ser) | Inborn genetic diseases [RCV005274348] | uncertain significance | 6 | 166931100 | 166931100 | Human | 1 | name |
| 15197354 | CV699438 | single nucleotide variant | NM_003730.6(RNASET2):c.697G>A (p.Ala233Thr) | RNASET2-related disorder [RCV003903291]|not provided [RCV000956442] | benign | 6 | 166929662 | 166929662 | Human | 1 | name , trait , alternate_id |
| 15192980 | CV721875 | single nucleotide variant | NM_003730.6(RNASET2):c.707G>A (p.Arg236Gln) | Cystic leukoencephalopathy without megalencephaly [RCV001157007]|RNASET2-related disorder [RCV003920724]|not provided [RCV000888819] | benign|likely benign | 6 | 166929652 | 166929652 | Human | 1 | name , trait , alternate_id |
| 15175428 | CV721876 | single nucleotide variant | NM_003730.6(RNASET2):c.662C>A (p.Ser221Tyr) | not provided [RCV000884362] | likely benign | 6 | 166929697 | 166929697 | Human | | name |
| 21404496 | CV802160 | single nucleotide variant | NM_003730.6(RNASET2):c.748C>T (p.Pro250Ser) | Cystic leukoencephalopathy without megalencephaly [RCV001004878] | uncertain significance | 6 | 166929611 | 166929611 | Human | 1 | name |
| 28887902 | CV895666 | single nucleotide variant | NM_003730.6(RNASET2):c.563G>T (p.Ser188Ile) | Cystic leukoencephalopathy without megalencephaly [RCV001151596] | uncertain significance | 6 | 166931048 | 166931048 | Human | 1 | name |
| 151752765 | CV1370742 | deletion | NM_003730.6(RNASET2):c.763_*4del (p.Lys255fs) | not provided [RCV001894507] | uncertain significance | 6 | 166929584 | 166929596 | Human | | name |
| 596946100 | CV3550385 | deletion | NM_003730.6(RNASET2):c.195_198del (p.Gly66fs) | Cystic leukoencephalopathy without megalencephaly [RCV004818926] | likely pathogenic | 6 | 166948575 | 166948578 | Human | 1 | name |
| 243060214 | CV2413760 | microsatellite | NM_003730.6(RNASET2):c.394AAG[1] (p.Lys133del) | Cystic leukoencephalopathy without megalencephaly [RCV003135779]|not specified [RCV003230775] | uncertain significance | 6 | 166938942 | 166938944 | Human | | name |
| 11661562 | CV306547 | deletion | NM_003730.6(RNASET2):c.-3_6del (p.Met1_Arg2del) | Cystic leukoencephalopathy without megalencephaly [RCV000377846] | uncertain significance | 6 | 166956177 | 166956185 | Human | 1 | name |
| 8555622 | CV15455 | deletion | NM_003730.6(RNASET2):c.50_64del (p.Ala17_Leu21del) | Cystic leukoencephalopathy without megalencephaly [RCV000000444] | pathogenic | 6 | 166956119 | 166956133 | Human | 1 | name |