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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


169 records found for search term Rnaset2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
11649137CV299617single nucleotide variantNM_003730.6(RNASET2):c.-14C>ACystic leukoencephalopathy without megalencephaly [RCV000285738]uncertain significance6166956196166956196Human1name
11657675CV306841single nucleotide variantNM_003730.6(RNASET2):c.-32A>GCystic leukoencephalopathy without megalencephaly [RCV000343241]uncertain significance6166956214166956214Human1name
11663414CV306847deletionNM_003730.6(RNASET2):c.-77delCystic leukoencephalopathy without megalencephaly [RCV000395928]uncertain significance6166956259166956259Human1name
28898479CV895667single nucleotide variantNM_003730.6(RNASET2):c.-69C>TCystic leukoencephalopathy without megalencephaly [RCV001155447]uncertain significance6166956251166956251Human1name
28898480CV895668single nucleotide variantNM_003730.6(RNASET2):c.-72C>GCystic leukoencephalopathy without megalencephaly [RCV001155448]uncertain significance6166956254166956254Human1name
155986525CV1884044single nucleotide variantNM_003730.6(RNASET2):c.87-9T>Anot provided [RCV003075910]uncertain significance6166952557166952557Humanname
11654464CV299622single nucleotide variantNM_003730.4(RNASET2):c.-384G>ACystic leukoencephalopathy without megalencephaly [RCV000317972]uncertain significance6166956566166956566Human1name
11658119CV302163single nucleotide variantNM_003730.6(RNASET2):c.-114G>CCystic leukoencephalopathy without megalencephaly [RCV000346705]uncertain significance6166956296166956296Human1name
11653551CV302164deletionNM_003730.6(RNASET2):c.-183delCystic leukoencephalopathy without megalencephaly [RCV000311840]uncertain significance6166956365166956365Human1name
11589920CV302165single nucleotide variantNM_003730.6(RNASET2):c.-251G>CCystic leukoencephalopathy without megalencephaly [RCV000314548]uncertain significance6166956433166956433Human1name
11594254CV302176single nucleotide variantNM_003730.6(RNASET2):c.-392G>CCystic leukoencephalopathy without megalencephaly [RCV000357502]uncertain significance6166956574166956574Human1name
11649828CV306548single nucleotide variantNM_003730.6(RNASET2):c.-104G>TCystic leukoencephalopathy without megalencephaly [RCV000289439]uncertain significance6166956286166956286Human1name
11663697CV306551single nucleotide variantNM_003730.6(RNASET2):c.-176C>TCystic leukoencephalopathy without megalencephaly [RCV000398539]uncertain significance6166956358166956358Human1name
11612022CV306552single nucleotide variantNM_003730.6(RNASET2):c.-227G>TCystic leukoencephalopathy without megalencephaly [RCV000402342]benign6166956409166956409Human1name
11598829CV306554single nucleotide variantNM_003730.6(RNASET2):c.-322T>CCystic leukoencephalopathy without megalencephaly [RCV000260374]benign6166956504166956504Human1name
11599412CV306565single nucleotide variantNM_003730.4(RNASET2):c.-396T>CCystic leukoencephalopathy without megalencephaly [RCV000264966]uncertain significance6166956578166956578Human1name
11609469CV306859single nucleotide variantNM_003730.6(RNASET2):c.-203G>ACystic leukoencephalopathy without megalencephaly [RCV000368868]uncertain significance6166956385166956385Human1name
11608281CV306861single nucleotide variantNM_003730.6(RNASET2):c.-321G>TCystic leukoencephalopathy without megalencephaly [RCV000352982]benign|likely benign6166956503166956503Human1name
597976008CV3829024single nucleotide variantNM_003730.6(RNASET2):c.86+9C>Tnot provided [RCV005169473]likely benign6166956088166956088Humanname
28898482CV895669single nucleotide variantNM_003730.6(RNASET2):c.-155C>TCystic leukoencephalopathy without megalencephaly [RCV001155449]uncertain significance6166956337166956337Human1name
28902447CV895670single nucleotide variantNM_003730.6(RNASET2):c.-221G>ACystic leukoencephalopathy without megalencephaly [RCV001157124]uncertain significance6166956403166956403Human1name
127261696CV1087334single nucleotide variantNM_003730.6(RNASET2):c.148-1G>TCystic leukoencephalopathy without megalencephaly [RCV001420593]likely pathogenic6166948626166948626Human1name
8555620CV15453single nucleotide variantNM_003730.6(RNASET2):c.262-2A>GCystic leukoencephalopathy without megalencephaly [RCV000000442]pathogenic6166943091166943091Human1name
8555621CV15454deletionNM_003730.6(RNASET2):c.332+1delCystic leukoencephalopathy without megalencephaly [RCV000000443]pathogenic6166943018166943018Human1name
156419173CV1926205single nucleotide variantNM_003730.6(RNASET2):c.87-12A>Cnot provided [RCV002612392]likely benign6166952560166952560Humanname
156442369CV1938595single nucleotide variantNM_003730.6(RNASET2):c.446+8C>Tnot provided [RCV003112710]likely benign6166938887166938887Humanname
156195725CV2171534single nucleotide variantNM_003730.6(RNASET2):c.333-7C>Anot provided [RCV003024280]likely benign6166939015166939015Humanname
156330294CV2180942single nucleotide variantNM_003730.6(RNASET2):c.493-5A>Gnot provided [RCV003047169]uncertain significance6166931123166931123Humanname
243060216CV2413762single nucleotide variantNM_003730.6(RNASET2):c.261+3A>GCystic leukoencephalopathy without megalencephaly [RCV003135781]uncertain significance6166946679166946679Human1name
401798482CV2741511single nucleotide variantNM_003730.6(RNASET2):c.332+1G>TCystic leukoencephalopathy without megalencephaly [RCV003322730]pathogenic6166943018166943018Human1name
402521259CV2871153single nucleotide variantNM_003730.6(RNASET2):c.203+7G>Anot provided [RCV003547714]likely benign6166948563166948563Humanname
405150843CV2956937single nucleotide variantNM_003730.6(RNASET2):c.147+8T>Cnot provided [RCV003669987]likely benign6166952480166952480Humanname
11595644CV302160single nucleotide variantNM_003730.6(RNASET2):c.147+3G>ACystic leukoencephalopathy without megalencephaly [RCV000372996]|not provided [RCV000960564]benign|likely benign6166952485166952485Human1name
28887899CV896214single nucleotide variantNM_003730.6(RNASET2):c.568-4T>CCystic leukoencephalopathy without megalencephaly [RCV001151595]|not provided [RCV005093652]likely benign|uncertain significance6166929795166929795Human1name
152031850CV1546155single nucleotide variantNM_003730.6(RNASET2):c.446+17C>Anot provided [RCV002124645]benign6166938878166938878Humanname
152123781CV1546413single nucleotide variantNM_003730.6(RNASET2):c.148-20T>Anot provided [RCV002118177]benign6166948645166948645Humanname
152138681CV1549568single nucleotide variantNM_003730.6(RNASET2):c.261+14A>Tnot provided [RCV002156475]likely benign6166946668166946668Humanname
152060654CV1557358single nucleotide variantNM_003730.6(RNASET2):c.568-17T>Cnot provided [RCV002146734]benign6166929808166929808Humanname
152094252CV1565724single nucleotide variantNM_003730.6(RNASET2):c.493-14G>Anot provided [RCV002150989]likely benign6166931132166931132Humanname
152069465CV1570999single nucleotide variantNM_003730.6(RNASET2):c.147+20C>Tnot provided [RCV002129415]benign6166952468166952468Humanname
152107559CV1581924duplicationNM_003730.6(RNASET2):c.567+12dupnot provided [RCV002079810]likely benign6166931031166931032Humanname
152149491CV1583109single nucleotide variantNM_003730.6(RNASET2):c.568-20C>Anot provided [RCV002102009]benign6166929811166929811Humanname
152128607CV1583775single nucleotide variantNM_003730.6(RNASET2):c.447-14A>Tnot provided [RCV002199020]likely benign6166934150166934150Humanname
152029155CV1599638single nucleotide variantNM_003730.6(RNASET2):c.446+19C>Tnot provided [RCV002085706]likely benign6166938876166938876Humanname
152105836CV1614764single nucleotide variantNM_003730.6(RNASET2):c.147+12T>Cnot provided [RCV002079597]benign6166952476166952476Humanname
152025985CV1627770single nucleotide variantNM_003730.6(RNASET2):c.261+17A>Gnot provided [RCV002104399]benign|likely benign6166946665166946665Humanname
152026020CV1666161single nucleotide variantNM_003730.6(RNASET2):c.446+12C>Tnot provided [RCV002084660]likely benign6166938883166938883Humanname
156054179CV1924053single nucleotide variantNM_003730.6(RNASET2):c.446+20G>Anot provided [RCV002638048]likely benign6166938875166938875Humanname
156442952CV1945925single nucleotide variantNM_003730.6(RNASET2):c.332+12C>Gnot provided [RCV003113312]likely benign6166943007166943007Humanname
155921668CV2023842single nucleotide variantNM_003730.6(RNASET2):c.492+18T>Cnot provided [RCV002750746]likely benign6166934073166934073Humanname
156211680CV2074272single nucleotide variantNM_003730.6(RNASET2):c.446+16C>Gnot provided [RCV002829321]likely benign6166938879166938879Humanname
156321519CV2101049single nucleotide variantNM_003730.6(RNASET2):c.568-19T>Cnot provided [RCV002899326]likely benign6166929810166929810Humanname
405239322CV2891369single nucleotide variantNM_003730.6(RNASET2):c.147+16T>Cnot provided [RCV003556842]likely benign6166952472166952472Humanname
405014061CV2997684single nucleotide variantNM_003730.6(RNASET2):c.332+16T>Cnot provided [RCV003694148]likely benign6166943003166943003Humanname
38457178CV920226single nucleotide variantNM_003730.6(RNASET2):c.204-14A>GCystic leukoencephalopathy without megalencephaly [RCV001196498]uncertain significance6166946753166946753Human1name
401727009CV2736221single nucleotide variantNM_003730.6(RNASET2):c.446+131G>Anot provided [RCV003312669]likely benign6166938764166938764Humanname
152110317CV1638154microsatelliteNM_003730.6(RNASET2):c.147+7_147+8delnot provided [RCV002196682]likely benign6166952480166952481Humanname
13519094CV486412duplicationNM_003730.6(RNASET2):c.261+3_261+5dupnot provided [RCV000585362]|not specified [RCV005056248]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance6166946676166946677Humanname
152111984CV1658489single nucleotide variantNM_003730.6(RNASET2):c.24G>A (p.Gly8=)not provided [RCV002215619]likely benign6166956159166956159Humanname
155946774CV2062270single nucleotide variantNM_003730.6(RNASET2):c.15C>T (p.Ala5=)not provided [RCV002816030]likely benign6166956168166956168Humanname
11585596CV299616single nucleotide variantNM_003730.6(RNASET2):c.21C>T (p.Arg7=)Cystic leukoencephalopathy without megalencephaly [RCV000282275]|not provided [RCV001517055]benign|likely benign6166956162166956162Human1name
11605527CV306835single nucleotide variantNM_003730.6(RNASET2):c.16C>T (p.Leu6=)Cystic leukoencephalopathy without megalencephaly [RCV000320929]|not provided [RCV001518666]benign|likely benign6166956167166956167Human1name
152135813CV1528371single nucleotide variantNM_003730.6(RNASET2):c.81C>G (p.Arg27=)not provided [RCV002100101]likely benign6166956102166956102Humanname
156369302CV1919988single nucleotide variantNM_003730.6(RNASET2):c.31C>T (p.Leu11=)not provided [RCV002603050]benign6166956152166956152Humanname
155954782CV2043953single nucleotide variantNM_003730.6(RNASET2):c.78G>A (p.Lys26=)not provided [RCV002775963]likely benign6166956105166956105Humanname
155909448CV2073034single nucleotide variantNM_003730.6(RNASET2):c.93C>T (p.Asn31=)not provided [RCV002837598]likely benign6166952542166952542Humanname
405199976CV3147117single nucleotide variantNM_003730.6(RNASET2):c.69T>A (p.Gly23=)not provided [RCV003844277]likely benign6166956114166956114Humanname
405219555CV3154256single nucleotide variantNM_003730.6(RNASET2):c.66C>A (p.Gly22=)not provided [RCV003846948]likely benign6166956117166956117Humanname
15127941CV782492single nucleotide variantNM_003730.6(RNASET2):c.82C>T (p.Leu28=)not provided [RCV000980627]likely benign6166956101166956101Humanname
152120517CV1574254single nucleotide variantNM_003730.6(RNASET2):c.297C>T (p.Asp99=)not provided [RCV002175514]likely benign6166943054166943054Humanname
156160063CV2009430single nucleotide variantNM_003730.6(RNASET2):c.22G>C (p.Gly8Arg)not provided [RCV002710137]uncertain significance6166956161166956161Humanname
156340459CV2186792single nucleotide variantNM_003730.6(RNASET2):c.10G>A (p.Ala4Thr)not provided [RCV003064203]uncertain significance6166956173166956173Humanname
405242106CV3070399single nucleotide variantNM_003730.6(RNASET2):c.144C>T (p.Cys48=)not provided [RCV003737406]likely benign6166952491166952491Humanname
405108359CV3136602single nucleotide variantNM_003730.6(RNASET2):c.159C>T (p.Asn53=)not provided [RCV003835756]likely benign6166948614166948614Humanname
15109156CV710328single nucleotide variantNM_003730.6(RNASET2):c.207C>T (p.Pro69=)Cystic leukoencephalopathy without megalencephaly [RCV001154609]|not provided [RCV000960641]likely benign|uncertain significance6166946736166946736Human1name
15170642CV721877single nucleotide variantNM_003730.6(RNASET2):c.201A>G (p.Leu67=)not provided [RCV000883508]likely benign6166948572166948572Humanname
15145767CV749973single nucleotide variantNM_003730.6(RNASET2):c.195T>C (p.His65=)not provided [RCV000922601]likely benign6166948578166948578Humanname
28877938CV861625single nucleotide variantNM_003730.6(RNASET2):c.22G>A (p.Gly8Arg)Cystic leukoencephalopathy without megalencephaly [RCV001095751]uncertain significance6166956161166956161Human1name
151715491CV1392722single nucleotide variantNM_003730.6(RNASET2):c.44G>A (p.Cys15Tyr)not provided [RCV001908887]uncertain significance6166956139166956139Humanname
8555623CV15456single nucleotide variantNM_003730.6(RNASET2):c.567G>A (p.Gln189=)Cystic leukoencephalopathy without megalencephaly [RCV000000445]pathogenic|uncertain significance6166931044166931044Human1name
152131158CV1567956single nucleotide variantNM_003730.6(RNASET2):c.309G>A (p.Ser103=)not provided [RCV002218090]likely benign6166943042166943042Humanname
152029666CV1602533single nucleotide variantNM_003730.6(RNASET2):c.642C>T (p.Thr214=)not provided [RCV002105664]likely benign6166929717166929717Humanname
152034302CV1621531single nucleotide variantNM_003730.6(RNASET2):c.735A>T (p.Pro245=)not provided [RCV002205323]likely benign6166929624166929624Humanname
156113634CV1985064single nucleotide variantNM_003730.6(RNASET2):c.732C>T (p.Gly244=)not provided [RCV002622675]likely benign6166929627166929627Humanname
155944087CV2143176single nucleotide variantNM_003730.6(RNASET2):c.351G>A (p.Lys117=)not provided [RCV002994240]likely benign6166938990166938990Humanname
156146188CV2196859single nucleotide variantNM_003730.6(RNASET2):c.83T>C (p.Leu28Pro)Inborn genetic diseases [RCV002641586]uncertain significance6166956100166956100Human1name
11595038CV299610single nucleotide variantNM_003730.6(RNASET2):c.534G>A (p.Val178=)Cystic leukoencephalopathy without megalencephaly [RCV000366135]|not provided [RCV002058577]likely benign|uncertain significance6166931077166931077Human1name
11595320CV299611single nucleotide variantNM_003730.6(RNASET2):c.360C>A (p.Thr120=)Cystic leukoencephalopathy without megalencephaly [RCV000369431]|not provided [RCV002523561]likely benign|uncertain significance6166938981166938981Human1name
11583865CV302140single nucleotide variantNM_003730.6(RNASET2):c.648G>A (p.Pro216=)Cystic leukoencephalopathy without megalencephaly [RCV000269870]|not provided [RCV001514238]benign|likely benign6166929711166929711Human1name
11584466CV302143single nucleotide variantNM_003730.6(RNASET2):c.516T>C (p.Leu172=)Cystic leukoencephalopathy without megalencephaly [RCV000273891]|not provided [RCV001509842]benign6166931095166931095Human1name
402470345CV3171033single nucleotide variantNM_003730.6(RNASET2):c.363C>T (p.Cys121=)not provided [RCV003873996]likely benign6166938978166938978Humanname
402509282CV3182070single nucleotide variantNM_003730.6(RNASET2):c.699C>T (p.Ala233=)not provided [RCV003878723]likely benign6166929660166929660Humanname
597899561CV3835211single nucleotide variantNM_003730.6(RNASET2):c.474A>G (p.Pro158=)not provided [RCV005180931]likely benign6166934109166934109Humanname
597871420CV3835680single nucleotide variantNM_003730.6(RNASET2):c.504T>C (p.Phe168=)not provided [RCV005176671]likely benign6166931107166931107Humanname
15155018CV710325single nucleotide variantNM_003730.6(RNASET2):c.660G>A (p.Pro220=)Cystic leukoencephalopathy without megalencephaly [RCV001157009]|not provided [RCV000968845]likely benign|uncertain significance6166929699166929699Human1name
15128968CV710326single nucleotide variantNM_003730.6(RNASET2):c.426C>T (p.Tyr142=)Cystic leukoencephalopathy without megalencephaly [RCV001151597]|RNASET2-related disorder [RCV003960754]|not provided [RCV000964178]benign6166938915166938915Human1name , trait , alternate_id
15193077CV735529single nucleotide variantNM_003730.6(RNASET2):c.696C>T (p.Ala232=)Cystic leukoencephalopathy without megalencephaly [RCV001157008]|not provided [RCV000910736]benign|likely benign6166929663166929663Human1name
15141444CV749971single nucleotide variantNM_003730.6(RNASET2):c.381G>A (p.Ala127=)RNASET2-related disorder [RCV003933105]|not provided [RCV000921842]likely benign6166938960166938960Human1name , trait , alternate_id
15145344CV749972single nucleotide variantNM_003730.6(RNASET2):c.366C>T (p.Ala122=)not provided [RCV000922526]likely benign6166938975166938975Humanname
15199150CV765584single nucleotide variantNM_003730.6(RNASET2):c.765G>A (p.Lys255=)RNASET2-related disorder [RCV003960509]|not provided [RCV000935020]likely benign6166929594166929594Human1name , trait , alternate_id
15172100CV765585single nucleotide variantNM_003730.6(RNASET2):c.660G>T (p.Pro220=)not provided [RCV000928042]likely benign6166929699166929699Humanname
15129074CV782491single nucleotide variantNM_003730.6(RNASET2):c.510T>C (p.Asp170=)not provided [RCV000980818]likely benign6166931101166931101Humanname
28902157CV895665single nucleotide variantNM_003730.6(RNASET2):c.648G>C (p.Pro216=)Cystic leukoencephalopathy without megalencephaly [RCV001157010]|not provided [RCV002070931]likely benign|uncertain significance6166929711166929711Human1name
8555619CV15452deletionNM_003730.6(RNASET2):c.87-1341_147+1181delCystic leukoencephalopathy without megalencephaly [RCV000000441]pathogenic6166951307166953889Human1name
156373931CV1875011single nucleotide variantNM_003730.6(RNASET2):c.160G>A (p.Asp54Asn)not provided [RCV003066537]uncertain significance6166948613166948613Humanname
156152569CV1875210single nucleotide variantNM_003730.6(RNASET2):c.245A>G (p.Asn82Ser)not provided [RCV003056588]uncertain significance6166946698166946698Humanname
156329342CV1881179single nucleotide variantNM_003730.6(RNASET2):c.291G>A (p.Trp97Ter)not provided [RCV003063601]pathogenic6166943060166943060Humanname
156125802CV2036305single nucleotide variantNM_003730.6(RNASET2):c.287A>G (p.Tyr96Cys)not provided [RCV002785972]uncertain significance6166943064166943064Humanname
155964572CV2210009single nucleotide variantNM_003730.6(RNASET2):c.154C>T (p.Gln52Ter)Inborn genetic diseases [RCV002686942]|not provided [RCV003777611]pathogenic6166948619166948619Human1name
11654238CV302151single nucleotide variantNM_003730.6(RNASET2):c.224G>A (p.Cys75Tyr)Cystic leukoencephalopathy without megalencephaly [RCV000315978]uncertain significance6166946719166946719Human1name
405261079CV3186046single nucleotide variantNM_003730.6(RNASET2):c.247T>A (p.Leu83Ile)not provided [RCV003885122]uncertain significance6166946696166946696Humanname
405754085CV3316346single nucleotide variantNM_003730.6(RNASET2):c.186G>T (p.Trp62Cys)Inborn genetic diseases [RCV004454231]uncertain significance6166948587166948587Human1name
405754092CV3316347single nucleotide variantNM_003730.6(RNASET2):c.265C>A (p.Leu89Ile)Inborn genetic diseases [RCV004454232]uncertain significance6166943086166943086Human1name
596921296CV3534940single nucleotide variantNM_003730.6(RNASET2):c.289T>A (p.Trp97Arg)not provided [RCV004784498]uncertain significance6166943062166943062Humanname
597718719CV3593901single nucleotide variantNM_003730.6(RNASET2):c.256A>G (p.Ile86Val)Inborn genetic diseases [RCV004960178]uncertain significance6166946687166946687Human1name
598230444CV3899355single nucleotide variantNM_003730.6(RNASET2):c.208G>A (p.Asp70Asn)Inborn genetic diseases [RCV005274347]uncertain significance6166946735166946735Human1name
13214456CV428599duplicationNM_003730.6(RNASET2):c.710dup (p.Leu238fs)Cystic leukoencephalopathy without megalencephaly [RCV000501289]|not specified [RCV004689766]likely pathogenic|uncertain significance6166929648166929649Human1name
15108667CV710327single nucleotide variantNM_003730.6(RNASET2):c.214A>G (p.Ser72Gly)Cystic leukoencephalopathy without megalencephaly [RCV001154608]|RNASET2-related disorder [RCV003926127]|not provided [RCV000960534]benign|likely benign6166946729166946729Human1name , trait , alternate_id
38598399CV861086single nucleotide variantNM_003730.6(RNASET2):c.233C>A (p.Ser78Ter)Cystic leukoencephalopathy without megalencephaly [RCV001254880]pathogenic|uncertain significance6166946710166946710Human1name
38457180CV919021single nucleotide variantNM_003730.6(RNASET2):c.131C>T (p.Pro44Leu)Cystic leukoencephalopathy without megalencephaly [RCV001196499]|Inborn genetic diseases [RCV003346352]|not provided [RCV001876274]uncertain significance6166952504166952504Human2name
126769808CV1027086single nucleotide variantNM_003730.6(RNASET2):c.610A>G (p.Thr204Ala)Inborn genetic diseases [RCV002547003]|not provided [RCV001344128]uncertain significance6166929749166929749Human1name
151758786CV1340582single nucleotide variantNM_003730.6(RNASET2):c.647C>G (p.Pro216Arg)not provided [RCV001913737]uncertain significance6166929712166929712Humanname
151798030CV1352684single nucleotide variantNM_003730.6(RNASET2):c.346G>A (p.Glu116Lys)not provided [RCV001877121]uncertain significance6166938995166938995Humanname
151852256CV1360981single nucleotide variantNM_003730.6(RNASET2):c.601C>G (p.Leu201Val)not provided [RCV001904254]uncertain significance6166929758166929758Humanname
151768689CV1411113single nucleotide variantNM_003730.6(RNASET2):c.680G>C (p.Trp227Ser)not provided [RCV002045028]uncertain significance6166929679166929679Humanname
151870631CV1417155single nucleotide variantNM_003730.6(RNASET2):c.751C>T (p.Pro251Ser)not provided [RCV001998285]uncertain significance6166929608166929608Humanname
8555618CV15451single nucleotide variantNM_003730.6(RNASET2):c.550T>C (p.Cys184Arg)Cystic leukoencephalopathy without megalencephaly [RCV000000440]pathogenic6166931061166931061Human1name
152155649CV1620535single nucleotide variantNM_003730.6(RNASET2):c.320G>A (p.Arg107His)Inborn genetic diseases [RCV003007125]|not provided [RCV002122376]likely benign|uncertain significance6166943031166943031Human1name
156318789CV1897663single nucleotide variantNM_003730.6(RNASET2):c.448G>T (p.Val150Leu)not provided [RCV002579110]uncertain significance6166934135166934135Humanname
156414409CV1912208single nucleotide variantNM_003730.6(RNASET2):c.325C>T (p.Arg109Cys)not provided [RCV002588594]uncertain significance6166943026166943026Humanname
156411856CV1973758single nucleotide variantNM_003730.6(RNASET2):c.640A>G (p.Thr214Ala)not provided [RCV002608370]uncertain significance6166929719166929719Humanname
156049292CV1974299single nucleotide variantNM_003730.6(RNASET2):c.668A>C (p.Lys223Thr)not provided [RCV002590604]uncertain significance6166929691166929691Humanname
156341403CV1984924single nucleotide variantNM_003730.6(RNASET2):c.590G>A (p.Gly197Asp)not provided [RCV002631449]uncertain significance6166929769166929769Humanname
156364618CV2013878single nucleotide variantNM_003730.6(RNASET2):c.367G>A (p.Ala123Thr)not provided [RCV002721098]uncertain significance6166938974166938974Humanname
156026086CV2025710single nucleotide variantNM_003730.6(RNASET2):c.532G>A (p.Val178Met)not provided [RCV002735603]uncertain significance6166931079166931079Humanname
156096305CV2132057single nucleotide variantNM_003730.6(RNASET2):c.600A>T (p.Glu200Asp)Inborn genetic diseases [RCV004960873]|not provided [RCV003002036]uncertain significance6166929759166929759Human1name
156212695CV2176373single nucleotide variantNM_003730.6(RNASET2):c.523G>A (p.Val175Ile)not provided [RCV003024868]uncertain significance6166931088166931088Humanname
156087817CV2184601single nucleotide variantNM_003730.6(RNASET2):c.521G>C (p.Arg174Thr)not provided [RCV003054252]uncertain significance6166931090166931090Humanname
156170434CV2197896single nucleotide variantNM_003730.6(RNASET2):c.647C>T (p.Pro216Leu)Inborn genetic diseases [RCV002664690]uncertain significance6166929712166929712Human1name
156140715CV2212220single nucleotide variantNM_003730.6(RNASET2):c.326G>A (p.Arg109His)Inborn genetic diseases [RCV002697031]likely benign6166943025166943025Human1name
156071120CV2381369single nucleotide variantNM_003730.6(RNASET2):c.500A>G (p.Asp167Gly)Inborn genetic diseases [RCV002693975]uncertain significance6166931111166931111Human1name
243060215CV2413761single nucleotide variantNM_003730.6(RNASET2):c.705C>A (p.Ser235Arg)Cystic leukoencephalopathy without megalencephaly [RCV003135780]uncertain significance6166929654166929654Human1name
243051573CV2413763single nucleotide variantNM_003730.6(RNASET2):c.502T>C (p.Phe168Leu)Cystic leukoencephalopathy without megalencephaly [RCV003130414]uncertain significance6166931109166931109Human1name
329391747CV2453089single nucleotide variantNM_003730.6(RNASET2):c.380C>G (p.Ala127Gly)Inborn genetic diseases [RCV003217423]uncertain significance6166938961166938961Human1name
329377675CV2462797single nucleotide variantNM_003730.6(RNASET2):c.499G>C (p.Asp167His)Inborn genetic diseases [RCV003211950]uncertain significance6166931112166931112Human1name
329399530CV2470140single nucleotide variantNM_003730.6(RNASET2):c.749C>T (p.Pro250Leu)Inborn genetic diseases [RCV003220968]uncertain significance6166929610166929610Human1name
11598036CV299596single nucleotide variantNM_003730.6(RNASET2):c.741C>A (p.Phe247Leu)Cystic leukoencephalopathy without megalencephaly [RCV000400857]|not provided [RCV000892106]likely benign|uncertain significance6166929618166929618Human1name
11594717CV299597single nucleotide variantNM_003730.6(RNASET2):c.652G>A (p.Glu218Lys)Cystic leukoencephalopathy without megalencephaly [RCV000362169]|not provided [RCV003574759]likely benign|uncertain significance6166929707166929707Human1name
11588702CV302139single nucleotide variantNM_003730.6(RNASET2):c.706C>T (p.Arg236Trp)Cystic leukoencephalopathy without megalencephaly [RCV000305139]|not provided [RCV001515723]benign|likely benign|conflicting interpretations of pathogenicity6166929653166929654Human4name
11588702CV302139single nucleotide variantNM_003730.6(RNASET2):c.706C>T (p.Arg236Trp)Cystic leukoencephalopathy without megalencephaly [RCV000305139]|not provided [RCV001515723]benign|likely benign|conflicting interpretations of pathogenicity6166929653166929653Human4name
11589239CV302141single nucleotide variantNM_003730.6(RNASET2):c.643G>A (p.Glu215Lys)Cystic leukoencephalopathy without megalencephaly [RCV000309087]|RNASET2-related disorder [RCV003912521]|not provided [RCV000439457]benign|likely benign|uncertain significance6166929716166929716Human1name , trait , alternate_id
11606395CV306815single nucleotide variantNM_003730.6(RNASET2):c.380C>T (p.Ala127Val)Cystic leukoencephalopathy without megalencephaly [RCV000331283]uncertain significance6166938961166938961Human1name
11600820CV306816single nucleotide variantNM_003730.6(RNASET2):c.325C>A (p.Arg109Ser)Cystic leukoencephalopathy without megalencephaly [RCV000277212]uncertain significance6166943026166943026Human1name
405754098CV3316348single nucleotide variantNM_003730.6(RNASET2):c.512C>T (p.Ala171Val)Inborn genetic diseases [RCV004454233]uncertain significance6166931099166931099Human1name
407475971CV3483447single nucleotide variantNM_003730.6(RNASET2):c.664C>T (p.Pro222Ser)Inborn genetic diseases [RCV004663360]uncertain significance6166929695166929695Human1name
597718711CV3593900single nucleotide variantNM_003730.6(RNASET2):c.316A>C (p.Asn106His)Inborn genetic diseases [RCV004960177]uncertain significance6166943035166943035Human1name
597718722CV3593903single nucleotide variantNM_003730.6(RNASET2):c.715A>G (p.Arg239Gly)Inborn genetic diseases [RCV004960179]uncertain significance6166929644166929644Human1name
597718729CV3593904single nucleotide variantNM_003730.6(RNASET2):c.682C>A (p.Leu228Met)Inborn genetic diseases [RCV004960180]uncertain significance6166929677166929677Human1name
598230448CV3899356single nucleotide variantNM_003730.6(RNASET2):c.511G>T (p.Ala171Ser)Inborn genetic diseases [RCV005274348]uncertain significance6166931100166931100Human1name
15197354CV699438single nucleotide variantNM_003730.6(RNASET2):c.697G>A (p.Ala233Thr)RNASET2-related disorder [RCV003903291]|not provided [RCV000956442]benign6166929662166929662Human1name , trait , alternate_id
15192980CV721875single nucleotide variantNM_003730.6(RNASET2):c.707G>A (p.Arg236Gln)Cystic leukoencephalopathy without megalencephaly [RCV001157007]|RNASET2-related disorder [RCV003920724]|not provided [RCV000888819]benign|likely benign6166929652166929652Human1name , trait , alternate_id
15175428CV721876single nucleotide variantNM_003730.6(RNASET2):c.662C>A (p.Ser221Tyr)not provided [RCV000884362]likely benign6166929697166929697Humanname
21404496CV802160single nucleotide variantNM_003730.6(RNASET2):c.748C>T (p.Pro250Ser)Cystic leukoencephalopathy without megalencephaly [RCV001004878]uncertain significance6166929611166929611Human1name
28887902CV895666single nucleotide variantNM_003730.6(RNASET2):c.563G>T (p.Ser188Ile)Cystic leukoencephalopathy without megalencephaly [RCV001151596]uncertain significance6166931048166931048Human1name
151752765CV1370742deletionNM_003730.6(RNASET2):c.763_*4del (p.Lys255fs)not provided [RCV001894507]uncertain significance6166929584166929596Humanname
596946100CV3550385deletionNM_003730.6(RNASET2):c.195_198del (p.Gly66fs)Cystic leukoencephalopathy without megalencephaly [RCV004818926]likely pathogenic6166948575166948578Human1name
243060214CV2413760microsatelliteNM_003730.6(RNASET2):c.394AAG[1] (p.Lys133del)Cystic leukoencephalopathy without megalencephaly [RCV003135779]|not specified [RCV003230775]uncertain significance6166938942166938944Humanname
11661562CV306547deletionNM_003730.6(RNASET2):c.-3_6del (p.Met1_Arg2del)Cystic leukoencephalopathy without megalencephaly [RCV000377846]uncertain significance6166956177166956185Human1name
8555622CV15455deletionNM_003730.6(RNASET2):c.50_64del (p.Ala17_Leu21del)Cystic leukoencephalopathy without megalencephaly [RCV000000444]pathogenic6166956119166956133Human1name