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


907 records found for search term Csf2ra
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
9689854CV178254single nucleotide variantNM_172245.4(CSF2RA):c.*9G>ACSF2RA-related disorder [RCV003917531]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001262878]|not provided [RCV001618312]|not specified [RCV000155479]benignY13094881309488Human1name , trait , alternate_id
9689854CV178254single nucleotide variantNM_172245.4(CSF2RA):c.*9G>ACSF2RA-related disorder [RCV003917531]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001262878]|not provided [RCV001618312]|not specified [RCV000155479]benignX13094881309488Human1name , trait , alternate_id
13836737CV588016single nucleotide variantNM_172245.4(CSF2RA):c.*7G>Anot provided [RCV000732939]uncertain significanceX13094861309486Humanname
13836737CV588016single nucleotide variantNM_172245.4(CSF2RA):c.*7G>Anot provided [RCV000732939]uncertain significanceY13094861309486Humanname
11092607CV231308single nucleotide variantNM_172245.4(CSF2RA):c.*49G>TCSF2RA-related disorder [RCV003917866]|not provided [RCV001651072]|not specified [RCV000218760]benign|likely benignX13095281309528Human1name , trait , alternate_id
11092607CV231308single nucleotide variantNM_172245.4(CSF2RA):c.*49G>TCSF2RA-related disorder [RCV003917866]|not provided [RCV001651072]|not specified [RCV000218760]benign|likely benignY13095281309528Human1name , trait , alternate_id
329846342CV2524665single nucleotide variantNM_172245.4(CSF2RA):c.*44G>Anot provided [RCV003228148]uncertain significanceX13095231309523Humanname
329846342CV2524665single nucleotide variantNM_172245.4(CSF2RA):c.*44G>Anot provided [RCV003228148]uncertain significanceY13095231309523Humanname
401934730CV2802804single nucleotide variantNM_172245.4(CSF2RA):c.*48C>TCSF2RA-related disorder [RCV003412157]uncertain significanceY13095271309527Humanname , trait , alternate_id
401934730CV2802804single nucleotide variantNM_172245.4(CSF2RA):c.*48C>TCSF2RA-related disorder [RCV003412157]uncertain significanceX13095271309527Humanname , trait , alternate_id
405259926CV3190110single nucleotide variantNM_172245.4(CSF2RA):c.*51G>ACSF2RA-related disorder [RCV003894513]likely benignX13095301309530Humanname , trait , alternate_id
405259926CV3190110single nucleotide variantNM_172245.4(CSF2RA):c.*51G>ACSF2RA-related disorder [RCV003894513]likely benignY13095301309530Humanname , trait , alternate_id
405277555CV3195885single nucleotide variantNM_172245.4(CSF2RA):c.*49G>ACSF2RA-related disorder [RCV003904412]|not specified [RCV004018012]benign|likely benignX13095281309528Human1name , trait , alternate_id
405277555CV3195885single nucleotide variantNM_172245.4(CSF2RA):c.*49G>ACSF2RA-related disorder [RCV003904412]|not specified [RCV004018012]benign|likely benignY13095281309528Human1name , trait , alternate_id
127259516CV1108659single nucleotide variantNM_172245.4(CSF2RA):c.77-6T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV001427616]likely benignX12857721285772Human1name , alternate_id
127259516CV1108659single nucleotide variantNM_172245.4(CSF2RA):c.77-6T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV001427616]likely benignY12857721285772Human1name , alternate_id
150411285CV1178812single nucleotide variantNM_172245.4(CSF2RA):c.*274C>Tnot provided [RCV001547083]likely benignX13097531309753Humanname
150411285CV1178812single nucleotide variantNM_172245.4(CSF2RA):c.*274C>Tnot provided [RCV001547083]likely benignY13097531309753Humanname
150424511CV1185872single nucleotide variantNM_172245.4(CSF2RA):c.*144A>Gnot provided [RCV001556756]likely benignX13096231309623Humanname
150424511CV1185872single nucleotide variantNM_172245.4(CSF2RA):c.*144A>Gnot provided [RCV001556756]likely benignY13096231309623Humanname
150476779CV1203092single nucleotide variantNM_172245.4(CSF2RA):c.*195G>Tnot provided [RCV001589686]likely benignX13096741309674Humanname
150476779CV1203092single nucleotide variantNM_172245.4(CSF2RA):c.*195G>Tnot provided [RCV001589686]likely benignY13096741309674Humanname
150501250CV1256255single nucleotide variantNM_172245.4(CSF2RA):c.*235C>Tnot provided [RCV001676879]benignX13097141309714Humanname
150501250CV1256255single nucleotide variantNM_172245.4(CSF2RA):c.*235C>Tnot provided [RCV001676879]benignY13097141309714Humanname
150442078CV1265878single nucleotide variantNM_172245.4(CSF2RA):c.*358A>Gnot provided [RCV001690603]benignX13098371309837Humanname
150442078CV1265878single nucleotide variantNM_172245.4(CSF2RA):c.*358A>Gnot provided [RCV001690603]benignY13098371309837Humanname
150460238CV1268466single nucleotide variantNM_172245.4(CSF2RA):c.*366A>Gnot provided [RCV001693463]benignX13098451309845Humanname
150460238CV1268466single nucleotide variantNM_172245.4(CSF2RA):c.*366A>Gnot provided [RCV001693463]benignY13098451309845Humanname
150452189CV1276696single nucleotide variantNM_172245.4(CSF2RA):c.*385C>Gnot provided [RCV001708485]benignX13098641309864Humanname
150452189CV1276696single nucleotide variantNM_172245.4(CSF2RA):c.*385C>Gnot provided [RCV001708485]benignY13098641309864Humanname
152060699CV1559238single nucleotide variantNM_172245.4(CSF2RA):c.76+7A>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV002167966]likely benignX12827861282786Human1name , alternate_id
152060699CV1559238single nucleotide variantNM_172245.4(CSF2RA):c.76+7A>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV002167966]likely benignY12827861282786Human1name , alternate_id
156399344CV2013169single nucleotide variantNM_172245.4(CSF2RA):c.77-3C>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002725864]uncertain significanceX12857751285775Human1name , alternate_id
156399344CV2013169single nucleotide variantNM_172245.4(CSF2RA):c.77-3C>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002725864]uncertain significanceY12857751285775Human1name , alternate_id
126775038CV1035669single nucleotide variantNM_172245.4(CSF2RA):c.780+3C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV001347921]uncertain significanceX12944641294464Human1name , alternate_id
126775038CV1035669single nucleotide variantNM_172245.4(CSF2RA):c.780+3C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV001347921]uncertain significanceY12944641294464Human1name , alternate_id
127308192CV1151081single nucleotide variantNM_172245.4(CSF2RA):c.946+7G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV001480542]likely benignX13006331300633Human1name , alternate_id
127308192CV1151081single nucleotide variantNM_172245.4(CSF2RA):c.946+7G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV001480542]likely benignY13006331300633Human1name , alternate_id
150414794CV1192580single nucleotide variantNM_172245.4(CSF2RA):c.77-35G>Anot provided [RCV001567698]likely benignX12857431285743Humanname
150414794CV1192580single nucleotide variantNM_172245.4(CSF2RA):c.77-35G>Anot provided [RCV001567698]likely benignY12857431285743Humanname
150475458CV1251719single nucleotide variantNM_172245.4(CSF2RA):c.77-46G>Anot provided [RCV001671917]benignX12857321285732Humanname
150475458CV1251719single nucleotide variantNM_172245.4(CSF2RA):c.77-46G>Anot provided [RCV001671917]benignY12857321285732Humanname
151766947CV1391526single nucleotide variantNM_172245.4(CSF2RA):c.810+2T>ACSF2RA-related disorder [RCV004752118]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001970797]likely pathogenicX12954581295458Human1name , trait , alternate_id
151766947CV1391526single nucleotide variantNM_172245.4(CSF2RA):c.810+2T>ACSF2RA-related disorder [RCV004752118]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001970797]likely pathogenicY12954581295458Human1name , trait , alternate_id
151876333CV1484279single nucleotide variantNM_172245.4(CSF2RA):c.646+3G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV001981946]uncertain significanceX12905121290512Human1name , alternate_id
151876333CV1484279single nucleotide variantNM_172245.4(CSF2RA):c.646+3G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV001981946]uncertain significanceY12905121290512Human1name , alternate_id
152139401CV1562811single nucleotide variantNM_172245.4(CSF2RA):c.344-4C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV002100560]likely benignX12887551288755Human1name , alternate_id
152139401CV1562811single nucleotide variantNM_172245.4(CSF2RA):c.344-4C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV002100560]likely benignY12887551288755Human1name , alternate_id
152089484CV1563105single nucleotide variantNM_172245.4(CSF2RA):c.811-4A>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV002113876]likely benignX13004871300487Human1name , alternate_id
152089484CV1563105single nucleotide variantNM_172245.4(CSF2RA):c.811-4A>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV002113876]likely benignY13004871300487Human1name , alternate_id
152123495CV1563750single nucleotide variantNM_172245.4(CSF2RA):c.77-12C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV002175892]likely benignX12857661285766Human1name , alternate_id
152123495CV1563750single nucleotide variantNM_172245.4(CSF2RA):c.77-12C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV002175892]likely benignY12857661285766Human1name , alternate_id
152121256CV1574432single nucleotide variantNM_172245.4(CSF2RA):c.77-14C>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002175609]likely benignX12857641285764Human1name , alternate_id
152121256CV1574432single nucleotide variantNM_172245.4(CSF2RA):c.77-14C>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002175609]likely benignY12857641285764Human1name , alternate_id
152075101CV1599414single nucleotide variantNM_172245.4(CSF2RA):c.946+8T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV002075623]likely benignX13006341300634Human1name , alternate_id
152075101CV1599414single nucleotide variantNM_172245.4(CSF2RA):c.946+8T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV002075623]likely benignY13006341300634Human1name , alternate_id
152122878CV1641018single nucleotide variantNM_172245.4(CSF2RA):c.77-16T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV002098403]|not provided [RCV004704730]likely benignX12857621285762Human1name , alternate_id
152122878CV1641018single nucleotide variantNM_172245.4(CSF2RA):c.77-16T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV002098403]|not provided [RCV004704730]likely benignY12857621285762Human1name , alternate_id
152039655CV1649042single nucleotide variantNM_172245.4(CSF2RA):c.474-9A>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV002206151]likely benignX12903281290328Human1name , alternate_id
152039655CV1649042single nucleotide variantNM_172245.4(CSF2RA):c.474-9A>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV002206151]likely benignY12903281290328Human1name , alternate_id
152060660CV1659705single nucleotide variantNM_172245.4(CSF2RA):c.219+7C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV002073635]likely benignX12859271285927Human1name , alternate_id
152060660CV1659705single nucleotide variantNM_172245.4(CSF2RA):c.219+7C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV002073635]likely benignY12859271285927Human1name , alternate_id
155944969CV1999298single nucleotide variantNM_172245.4(CSF2RA):c.647-2A>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV002685690]likely pathogenicX12943261294326Human1name , alternate_id
155944969CV1999298single nucleotide variantNM_172245.4(CSF2RA):c.647-2A>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV002685690]likely pathogenicY12943261294326Human1name , alternate_id
156231994CV2039785single nucleotide variantNM_172245.4(CSF2RA):c.219+8G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002805349]likely benignX12859281285928Human1name , alternate_id
156231994CV2039785single nucleotide variantNM_172245.4(CSF2RA):c.219+8G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002805349]likely benignY12859281285928Human1name , alternate_id
156268377CV2059716single nucleotide variantNM_172245.4(CSF2RA):c.76+17G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002806573]likely benignX12827961282796Human1name , alternate_id
156268377CV2059716single nucleotide variantNM_172245.4(CSF2RA):c.76+17G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002806573]likely benignY12827961282796Human1name , alternate_id
156249271CV2106471single nucleotide variantNM_172245.4(CSF2RA):c.77-11G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002933485]likely benignX12857671285767Human1name , alternate_id
156249271CV2106471single nucleotide variantNM_172245.4(CSF2RA):c.77-11G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002933485]likely benignY12857671285767Human1name , alternate_id
156203297CV2134819single nucleotide variantNM_172245.4(CSF2RA):c.344-5C>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV002985302]likely benignX12887541288754Human1name , alternate_id
156203297CV2134819single nucleotide variantNM_172245.4(CSF2RA):c.344-5C>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV002985302]likely benignY12887541288754Human1name , alternate_id
11088705CV231343single nucleotide variantNM_172245.4(CSF2RA):c.647-7G>ACSF2RA-related disorder [RCV003897465]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646170]|not specified [RCV000213907]benign|likely benignY12943211294321Human1name , trait , alternate_id
11088705CV231343single nucleotide variantNM_172245.4(CSF2RA):c.647-7G>ACSF2RA-related disorder [RCV003897465]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646170]|not specified [RCV000213907]benign|likely benignX12943211294321Human1name , trait , alternate_id
404979723CV2882887single nucleotide variantNM_172245.4(CSF2RA):c.811-9C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV003511299]likely benignX13004821300482Human1name , alternate_id
404979723CV2882887single nucleotide variantNM_172245.4(CSF2RA):c.811-9C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV003511299]likely benignY13004821300482Human1name , alternate_id
402506755CV2908044single nucleotide variantNM_172245.4(CSF2RA):c.220-7T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV003509357]likely benignX12885121288512Human1name , alternate_id
402506755CV2908044single nucleotide variantNM_172245.4(CSF2RA):c.220-7T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV003509357]likely benignY12885121288512Human1name , alternate_id
405169464CV2951332single nucleotide variantNM_172245.4(CSF2RA):c.76+14C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV003621974]likely benignX12827931282793Human1name , alternate_id
405169464CV2951332single nucleotide variantNM_172245.4(CSF2RA):c.76+14C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV003621974]likely benignY12827931282793Human1name , alternate_id
402464654CV2952574single nucleotide variantNM_172245.4(CSF2RA):c.76+11A>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV003622458]likely benignX12827901282790Human1name , alternate_id
402464654CV2952574single nucleotide variantNM_172245.4(CSF2RA):c.76+11A>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV003622458]likely benignY12827901282790Human1name , alternate_id
405162279CV3160081single nucleotide variantNM_172245.4(CSF2RA):c.220-6C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV003857152]likely benignX12885131288513Human1name , alternate_id
405162279CV3160081single nucleotide variantNM_172245.4(CSF2RA):c.220-6C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV003857152]likely benignY12885131288513Human1name , alternate_id
402472864CV3172058single nucleotide variantNM_172245.4(CSF2RA):c.77-18A>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV003874661]likely benignX12857601285760Human1name , alternate_id
402472864CV3172058single nucleotide variantNM_172245.4(CSF2RA):c.77-18A>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV003874661]likely benignY12857601285760Human1name , alternate_id
405228624CV3180402single nucleotide variantNM_172245.4(CSF2RA):c.220-6C>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV003864823]likely benignX12885131288513Human1name , alternate_id
405228624CV3180402single nucleotide variantNM_172245.4(CSF2RA):c.220-6C>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV003864823]likely benignY12885131288513Human1name , alternate_id
597925970CV3778433single nucleotide variantNM_172245.4(CSF2RA):c.811-8C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV005130956]likely benignX13004831300483Human1name , alternate_id
597925970CV3778433single nucleotide variantNM_172245.4(CSF2RA):c.811-8C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV005130956]likely benignY13004831300483Human1name , alternate_id
597892574CV3785346single nucleotide variantNM_172245.4(CSF2RA):c.343+4A>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV005125932]uncertain significanceX12886461288646Human1name , alternate_id
597892574CV3785346single nucleotide variantNM_172245.4(CSF2RA):c.343+4A>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV005125932]uncertain significanceY12886461288646Human1name , alternate_id
597954931CV3786783single nucleotide variantNM_172245.4(CSF2RA):c.77-10C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV005121875]likely benignX12857681285768Human1name , alternate_id
597954931CV3786783single nucleotide variantNM_172245.4(CSF2RA):c.77-10C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV005121875]likely benignY12857681285768Human1name , alternate_id
597970865CV3802311deletionNM_172245.4(CSF2RA):c.220-3delSurfactant metabolism dysfunction, pulmonary, 4 [RCV005141908]uncertain significanceX12885161288516Human1name , alternate_id
597970865CV3802311deletionNM_172245.4(CSF2RA):c.220-3delSurfactant metabolism dysfunction, pulmonary, 4 [RCV005141908]uncertain significanceY12885161288516Human1name , alternate_id
597976396CV3829644single nucleotide variantNM_172245.4(CSF2RA):c.780+9G>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV005169911]likely benignX12944701294470Human1name , alternate_id
597976396CV3829644single nucleotide variantNM_172245.4(CSF2RA):c.780+9G>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV005169911]likely benignY12944701294470Human1name , alternate_id
15137735CV745477single nucleotide variantNM_172245.4(CSF2RA):c.646+8T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV001475994]likely benignX12905171290517Human1name , alternate_id
15137735CV745477single nucleotide variantNM_172245.4(CSF2RA):c.646+8T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV001475994]likely benignY12905171290517Human1name , alternate_id
15156644CV761007single nucleotide variantNM_172245.4(CSF2RA):c.646+9A>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV000924709]likely benignX12905181290518Human1name , alternate_id
15156644CV761007single nucleotide variantNM_172245.4(CSF2RA):c.646+9A>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV000924709]likely benignY12905181290518Human1name , alternate_id
15185126CV776976single nucleotide variantNM_172245.4(CSF2RA):c.647-8C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV000930974]likely benignX12943201294320Human1name , alternate_id
15185126CV776976single nucleotide variantNM_172245.4(CSF2RA):c.647-8C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV000930974]likely benignY12943201294320Human1name , alternate_id
26917715CV853066single nucleotide variantNM_172245.4(CSF2RA):c.780+4G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV001042825]uncertain significanceX12944651294465Human1name , alternate_id
26917715CV853066single nucleotide variantNM_172245.4(CSF2RA):c.780+4G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV001042825]uncertain significanceY12944651294465Human1name , alternate_id
26897480CV853067single nucleotide variantNM_172245.4(CSF2RA):c.343+5G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV001048563]uncertain significanceX12886471288647Human1name , alternate_id
26897480CV853067single nucleotide variantNM_172245.4(CSF2RA):c.343+5G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV001048563]uncertain significanceY12886471288647Human1name , alternate_id
127294770CV1159938single nucleotide variantNM_172245.4(CSF2RA):c.219+19T>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV001511916]|not provided [RCV001615181]benignX12859391285939Human1name , alternate_id
127294770CV1159938single nucleotide variantNM_172245.4(CSF2RA):c.219+19T>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV001511916]|not provided [RCV001615181]benignY12859391285939Human1name , alternate_id
127310627CV1159941single nucleotide variantNM_172245.4(CSF2RA):c.646+18G>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV001518351]|not provided [RCV001658213]benignX12905271290527Human1name , alternate_id
127310627CV1159941single nucleotide variantNM_172245.4(CSF2RA):c.646+18G>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV001518351]|not provided [RCV001658213]benignY12905271290527Human1name , alternate_id
150336288CV1173616single nucleotide variantNM_172245.4(CSF2RA):c.781-95C>Tnot provided [RCV001540925]benignX12953321295332Humanname
150336288CV1173616single nucleotide variantNM_172245.4(CSF2RA):c.781-95C>Tnot provided [RCV001540925]benignY12953321295332Humanname
150427789CV1189175single nucleotide variantNM_172245.4(CSF2RA):c.76+118C>Gnot provided [RCV001561394]likely benignX12828971282897Humanname
150427789CV1189175single nucleotide variantNM_172245.4(CSF2RA):c.76+118C>Gnot provided [RCV001561394]likely benignY12828971282897Humanname
150428023CV1189176single nucleotide variantNM_172245.4(CSF2RA):c.343+50C>Tnot provided [RCV001561707]likely benignX12886921288692Humanname
150428023CV1189176single nucleotide variantNM_172245.4(CSF2RA):c.343+50C>Tnot provided [RCV001561707]likely benignY12886921288692Humanname
150466443CV1201244single nucleotide variantNM_172245.4(CSF2RA):c.219+42C>Tnot provided [RCV001587724]likely benignX12859621285962Humanname
150466443CV1201244single nucleotide variantNM_172245.4(CSF2RA):c.219+42C>Tnot provided [RCV001587724]likely benignY12859621285962Humanname
150434394CV1204337single nucleotide variantNM_172245.4(CSF2RA):c.647-94T>Cnot provided [RCV001582086]likely benignX12942341294234Humanname
150434394CV1204337single nucleotide variantNM_172245.4(CSF2RA):c.647-94T>Cnot provided [RCV001582086]likely benignY12942341294234Humanname
150434947CV1206874single nucleotide variantNM_172245.4(CSF2RA):c.780+78G>Anot provided [RCV001582223]likely benignX12945391294539Humanname
150434947CV1206874single nucleotide variantNM_172245.4(CSF2RA):c.780+78G>Anot provided [RCV001582223]likely benignY12945391294539Humanname
150471119CV1209479single nucleotide variantNM_172245.4(CSF2RA):c.647-47G>Anot provided [RCV001588590]likely benignX12942811294281Humanname
150471119CV1209479single nucleotide variantNM_172245.4(CSF2RA):c.647-47G>Anot provided [RCV001588590]likely benignY12942811294281Humanname
150454652CV1220319single nucleotide variantNM_172245.4(CSF2RA):c.220-82A>Gnot provided [RCV001612411]benignX12884371288437Humanname
150454652CV1220319single nucleotide variantNM_172245.4(CSF2RA):c.220-82A>Gnot provided [RCV001612411]benignY12884371288437Humanname
150503722CV1223807single nucleotide variantNM_172245.4(CSF2RA):c.219+97C>Anot provided [RCV001621456]benignX12860171286017Humanname
150503722CV1223807single nucleotide variantNM_172245.4(CSF2RA):c.219+97C>Anot provided [RCV001621456]benignY12860171286017Humanname
150488320CV1226040single nucleotide variantNM_172245.4(CSF2RA):c.77-294G>Anot provided [RCV001618201]benignX12854841285484Humanname
150488320CV1226040single nucleotide variantNM_172245.4(CSF2RA):c.77-294G>Anot provided [RCV001618201]benignY12854841285484Humanname
150493027CV1238589single nucleotide variantNM_172245.4(CSF2RA):c.946+52C>Gnot provided [RCV001655133]benignX13006781300678Humanname
150493027CV1238589single nucleotide variantNM_172245.4(CSF2RA):c.946+52C>Gnot provided [RCV001655133]benignY13006781300678Humanname
150436985CV1249795single nucleotide variantNM_172245.4(CSF2RA):c.77-118G>Cnot provided [RCV001665709]benignX12856601285660Humanname
150436985CV1249795single nucleotide variantNM_172245.4(CSF2RA):c.77-118G>Cnot provided [RCV001665709]benignY12856601285660Humanname
150492059CV1253864single nucleotide variantNM_172245.4(CSF2RA):c.77-130C>Gnot provided [RCV001674960]benignX12856481285648Humanname
150492059CV1253864single nucleotide variantNM_172245.4(CSF2RA):c.77-130C>Gnot provided [RCV001674960]benignY12856481285648Humanname
150469347CV1259643single nucleotide variantNM_172245.4(CSF2RA):c.220-97T>Cnot provided [RCV001683944]benignX12884221288422Humanname
150469347CV1259643single nucleotide variantNM_172245.4(CSF2RA):c.220-97T>Cnot provided [RCV001683944]benignY12884221288422Humanname
150455428CV1259866single nucleotide variantNM_172245.4(CSF2RA):c.220-35T>Cnot provided [RCV001681345]benignX12884841288484Humanname
150455428CV1259866single nucleotide variantNM_172245.4(CSF2RA):c.220-35T>Cnot provided [RCV001681345]benignY12884841288484Humanname
150454856CV1261050single nucleotide variantNM_172245.4(CSF2RA):c.77-204C>Anot provided [RCV001681247]benignX12855741285574Humanname
150454856CV1261050single nucleotide variantNM_172245.4(CSF2RA):c.77-204C>Anot provided [RCV001681247]benignY12855741285574Humanname
150468995CV1268022single nucleotide variantNM_172245.4(CSF2RA):c.220-95G>Anot provided [RCV001694885]benignX12884241288424Humanname
150468995CV1268022single nucleotide variantNM_172245.4(CSF2RA):c.220-95G>Anot provided [RCV001694885]benignY12884241288424Humanname
150471071CV1269996duplicationNM_172245.4(CSF2RA):c.-26-78dupnot provided [RCV001695283]benignX12825991282600Humanname
150471071CV1269996duplicationNM_172245.4(CSF2RA):c.-26-78dupnot provided [RCV001695283]benignY12825991282600Humanname
150496689CV1271595single nucleotide variantNM_172245.4(CSF2RA):c.811-84C>Tnot provided [RCV001688896]benignX13004071300407Humanname
150496689CV1271595single nucleotide variantNM_172245.4(CSF2RA):c.811-84C>Tnot provided [RCV001688896]benignY13004071300407Humanname
150497477CV1271736single nucleotide variantNM_172245.4(CSF2RA):c.220-80G>Anot provided [RCV001689037]benignX12884391288439Humanname
150497477CV1271736single nucleotide variantNM_172245.4(CSF2RA):c.220-80G>Anot provided [RCV001689037]benignY12884391288439Humanname
150445286CV1278127single nucleotide variantNM_172245.4(CSF2RA):c.810+70G>Anot provided [RCV001707270]benignX12955261295526Humanname
150445286CV1278127single nucleotide variantNM_172245.4(CSF2RA):c.810+70G>Anot provided [RCV001707270]benignY12955261295526Humanname
152044984CV1539417single nucleotide variantNM_172245.4(CSF2RA):c.811-19T>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002144985]likely benignX13004721300472Human1name , alternate_id
152044984CV1539417single nucleotide variantNM_172245.4(CSF2RA):c.811-19T>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002144985]likely benignY13004721300472Human1name , alternate_id
152111484CV1539890single nucleotide variantNM_172245.4(CSF2RA):c.946+18G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002153112]likely benignX13006441300644Human1name , alternate_id
152111484CV1539890single nucleotide variantNM_172245.4(CSF2RA):c.946+18G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002153112]likely benignY13006441300644Human1name , alternate_id
152072614CV1549441single nucleotide variantNM_172245.4(CSF2RA):c.780+17C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV002091796]likely benignX12944781294478Human1name , alternate_id
152072614CV1549441single nucleotide variantNM_172245.4(CSF2RA):c.780+17C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV002091796]likely benignY12944781294478Human1name , alternate_id
152153041CV1577672single nucleotide variantNM_172245.4(CSF2RA):c.344-20T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV002122025]likely benignX12887391288739Human1name , alternate_id
152153041CV1577672single nucleotide variantNM_172245.4(CSF2RA):c.344-20T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV002122025]likely benignY12887391288739Human1name , alternate_id
152153475CV1592069single nucleotide variantNM_172245.4(CSF2RA):c.220-18C>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV002102586]likely benignX12885011288501Human1name , alternate_id
152153475CV1592069single nucleotide variantNM_172245.4(CSF2RA):c.220-18C>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV002102586]likely benignY12885011288501Human1name , alternate_id
152092433CV1593116single nucleotide variantNM_172245.4(CSF2RA):c.473+17T>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002094373]likely benignX12889051288905Human1name , alternate_id
152092433CV1593116single nucleotide variantNM_172245.4(CSF2RA):c.473+17T>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002094373]likely benignY12889051288905Human1name , alternate_id
152036437CV1605388single nucleotide variantNM_172245.4(CSF2RA):c.647-13G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002107060]benignX12943151294315Human1name , alternate_id
152036437CV1605388single nucleotide variantNM_172245.4(CSF2RA):c.647-13G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002107060]benignY12943151294315Human1name , alternate_id
152097393CV1611530single nucleotide variantNM_172245.4(CSF2RA):c.646+20T>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002172646]likely benignX12905291290529Human1name , alternate_id
152097393CV1611530single nucleotide variantNM_172245.4(CSF2RA):c.646+20T>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002172646]likely benignY12905291290529Human1name , alternate_id
152052142CV1617348single nucleotide variantNM_172245.4(CSF2RA):c.647-15G>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV002072512]likely benignX12943131294313Human1name , alternate_id
152052142CV1617348single nucleotide variantNM_172245.4(CSF2RA):c.647-15G>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV002072512]likely benignY12943131294313Human1name , alternate_id
152111228CV1626158single nucleotide variantNM_172245.4(CSF2RA):c.781-20G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002153078]likely benignX12954071295407Human1name , alternate_id
152111228CV1626158single nucleotide variantNM_172245.4(CSF2RA):c.781-20G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002153078]likely benignY12954071295407Human1name , alternate_id
152068522CV1657211single nucleotide variantNM_172245.4(CSF2RA):c.344-12A>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV002191471]likely benignX12887471288747Human1name , alternate_id
152068522CV1657211single nucleotide variantNM_172245.4(CSF2RA):c.344-12A>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV002191471]likely benignY12887471288747Human1name , alternate_id
152150883CV1661724single nucleotide variantNM_172245.4(CSF2RA):c.946+13C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV002179429]benignX13006391300639Human1name , alternate_id
152150883CV1661724single nucleotide variantNM_172245.4(CSF2RA):c.946+13C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV002179429]benignY13006391300639Human1name , alternate_id
152120313CV1661992single nucleotide variantNM_172245.4(CSF2RA):c.473+12C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV002117769]benignX12889001288900Human1name , alternate_id
152120313CV1661992single nucleotide variantNM_172245.4(CSF2RA):c.473+12C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV002117769]benignY12889001288900Human1name , alternate_id
156090716CV1895510single nucleotide variantNM_172245.4(CSF2RA):c.344-16T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV003080203]likely benignX12887431288743Human1name , alternate_id
156090716CV1895510single nucleotide variantNM_172245.4(CSF2RA):c.344-16T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV003080203]likely benignY12887431288743Human1name , alternate_id
156416552CV1901444single nucleotide variantNM_172245.4(CSF2RA):c.946+14G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002610234]likely benignX13006401300640Human1name , alternate_id
156416552CV1901444single nucleotide variantNM_172245.4(CSF2RA):c.946+14G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002610234]likely benignY13006401300640Human1name , alternate_id
156305108CV1916387single nucleotide variantNM_172245.4(CSF2RA):c.343+14C>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV002599362]likely benign|uncertain significanceX12886561288656Human1name , alternate_id
156305108CV1916387single nucleotide variantNM_172245.4(CSF2RA):c.343+14C>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV002599362]likely benign|uncertain significanceY12886561288656Human1name , alternate_id
156418718CV1918670single nucleotide variantNM_172245.4(CSF2RA):c.1043+1G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002611923]likely pathogenicX13040201304020Human1name , alternate_id
156418718CV1918670single nucleotide variantNM_172245.4(CSF2RA):c.1043+1G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002611923]likely pathogenicY13040201304020Human1name , alternate_id
156410206CV1962152single nucleotide variantNM_172245.4(CSF2RA):c.781-12T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV002587078]likely benignX12954151295415Human1name , alternate_id
156410206CV1962152single nucleotide variantNM_172245.4(CSF2RA):c.781-12T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV002587078]likely benignY12954151295415Human1name , alternate_id
156186763CV1964741single nucleotide variantNM_172245.4(CSF2RA):c.647-13G>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV002574284]likely benign|uncertain significanceX12943151294315Human1name , alternate_id
156186763CV1964741single nucleotide variantNM_172245.4(CSF2RA):c.647-13G>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV002574284]likely benign|uncertain significanceY12943151294315Human1name , alternate_id
156249058CV1969666single nucleotide variantNM_172245.4(CSF2RA):c.474-15T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV002597408]likely benignX12903221290322Human1name , alternate_id
156249058CV1969666single nucleotide variantNM_172245.4(CSF2RA):c.474-15T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV002597408]likely benignY12903221290322Human1name , alternate_id
156008119CV1989496single nucleotide variantNM_172245.4(CSF2RA):c.219+18T>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002636080]likely benignX12859381285938Human1name , alternate_id
156008119CV1989496single nucleotide variantNM_172245.4(CSF2RA):c.219+18T>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002636080]likely benignY12859381285938Human1name , alternate_id
156152320CV2049149single nucleotide variantNM_172245.4(CSF2RA):c.810+11C>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002801332]likely benignX12954671295467Human1name , alternate_id
156152320CV2049149single nucleotide variantNM_172245.4(CSF2RA):c.810+11C>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002801332]likely benignY12954671295467Human1name , alternate_id
155943478CV2062020single nucleotide variantNM_172245.4(CSF2RA):c.947-14G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002815842]likely benignX13039091303909Human1name , alternate_id
155943478CV2062020single nucleotide variantNM_172245.4(CSF2RA):c.947-14G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002815842]likely benignY13039091303909Human1name , alternate_id
156118194CV2081445single nucleotide variantNM_172245.4(CSF2RA):c.473+17T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV002889453]likely benignX12889051288905Human1name , alternate_id
156118194CV2081445single nucleotide variantNM_172245.4(CSF2RA):c.473+17T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV002889453]likely benignY12889051288905Human1name , alternate_id
155977216CV2146636single nucleotide variantNM_172245.4(CSF2RA):c.811-11T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV003016208]likely benignX13004801300480Human1name , alternate_id
155977216CV2146636single nucleotide variantNM_172245.4(CSF2RA):c.811-11T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV003016208]likely benignY13004801300480Human1name , alternate_id
402516675CV2864799single nucleotide variantNM_172245.4(CSF2RA):c.810+18C>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV003510443]likely benignX12954741295474Human1name , alternate_id
402516675CV2864799single nucleotide variantNM_172245.4(CSF2RA):c.810+18C>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV003510443]likely benignY12954741295474Human1name , alternate_id
405169551CV2961774single nucleotide variantNM_172245.4(CSF2RA):c.780+12C>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV003621982]likely benignX12944731294473Human1name , alternate_id
405169551CV2961774single nucleotide variantNM_172245.4(CSF2RA):c.780+12C>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV003621982]likely benignY12944731294473Human1name , alternate_id
402467621CV3015955single nucleotide variantNM_172245.4(CSF2RA):c.810+20C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV003623224]likely benignX12954761295476Human1name , alternate_id
402467621CV3015955single nucleotide variantNM_172245.4(CSF2RA):c.810+20C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV003623224]likely benignY12954761295476Human1name , alternate_id
402468792CV3027846single nucleotide variantNM_172245.4(CSF2RA):c.220-12G>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV003623534]likely benignX12885071288507Human1name , alternate_id
402468792CV3027846single nucleotide variantNM_172245.4(CSF2RA):c.220-12G>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV003623534]likely benignY12885071288507Human1name , alternate_id
402469170CV3036393single nucleotide variantNM_172245.4(CSF2RA):c.781-18G>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV003623635]likely benignX12954091295409Human1name , alternate_id
402469170CV3036393single nucleotide variantNM_172245.4(CSF2RA):c.781-18G>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV003623635]likely benignY12954091295409Human1name , alternate_id
402469235CV3039669single nucleotide variantNM_172245.4(CSF2RA):c.220-10A>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV003623652]likely benignX12885091288509Human1name , alternate_id
402469235CV3039669single nucleotide variantNM_172245.4(CSF2RA):c.220-10A>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV003623652]likely benignY12885091288509Human1name , alternate_id
402469921CV3048789single nucleotide variantNM_172245.4(CSF2RA):c.780+18G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV003623838]likely benignX12944791294479Human1name , alternate_id
402469921CV3048789single nucleotide variantNM_172245.4(CSF2RA):c.780+18G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV003623838]likely benignY12944791294479Human1name , alternate_id
405170320CV3060912single nucleotide variantNM_172245.4(CSF2RA):c.947-10G>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV003622053]likely benignX13039131303913Human1name , alternate_id
405170320CV3060912single nucleotide variantNM_172245.4(CSF2RA):c.947-10G>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV003622053]likely benignY13039131303913Human1name , alternate_id
405168336CV3149814single nucleotide variantNM_172245.4(CSF2RA):c.647-14C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV003841285]likely benignX12943141294314Human1name , alternate_id
405168336CV3149814single nucleotide variantNM_172245.4(CSF2RA):c.647-14C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV003841285]likely benignY12943141294314Human1name , alternate_id
405082799CV3167146single nucleotide variantNM_172245.4(CSF2RA):c.810+18C>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV003851725]likely benignX12954741295474Human1name , alternate_id
405082799CV3167146single nucleotide variantNM_172245.4(CSF2RA):c.810+18C>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV003851725]likely benignY12954741295474Human1name , alternate_id
402488880CV3181996single nucleotide variantNM_172245.4(CSF2RA):c.343+19G>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV003876665]likely benignX12886611288661Human1name , alternate_id
402488880CV3181996single nucleotide variantNM_172245.4(CSF2RA):c.343+19G>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV003876665]likely benignY12886611288661Human1name , alternate_id
597961819CV3756715single nucleotide variantNM_172245.4(CSF2RA):c.219+20C>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV005081837]likely benignX12859401285940Human1name , alternate_id
597961819CV3756715single nucleotide variantNM_172245.4(CSF2RA):c.219+20C>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV005081837]likely benignY12859401285940Human1name , alternate_id
597946683CV3790509single nucleotide variantNM_172245.4(CSF2RA):c.473+11A>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV005134917]likely benignX12888991288899Human1name , alternate_id
597946683CV3790509single nucleotide variantNM_172245.4(CSF2RA):c.473+11A>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV005134917]likely benignY12888991288899Human1name , alternate_id
597904222CV3793244single nucleotide variantNM_172245.4(CSF2RA):c.946+17G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV005153212]likely benignX13006431300643Human1name , alternate_id
597904222CV3793244single nucleotide variantNM_172245.4(CSF2RA):c.946+17G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV005153212]likely benignY13006431300643Human1name , alternate_id
597887272CV3839032single nucleotide variantNM_172245.4(CSF2RA):c.780+14C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV005179117]likely benignX12944751294475Human1name , alternate_id
597887272CV3839032single nucleotide variantNM_172245.4(CSF2RA):c.780+14C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV005179117]likely benignY12944751294475Human1name , alternate_id
597950536CV3846945single nucleotide variantNM_172245.4(CSF2RA):c.474-19G>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV005190116]likely benignX12903181290318Human1name , alternate_id
597950536CV3846945single nucleotide variantNM_172245.4(CSF2RA):c.474-19G>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV005190116]likely benignY12903181290318Human1name , alternate_id
13618605CV535222single nucleotide variantNM_172245.4(CSF2RA):c.1125+8G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV000646178]|not provided [RCV003437364]likely benignX13055351305535Human1name , alternate_id
13618605CV535222single nucleotide variantNM_172245.4(CSF2RA):c.1125+8G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV000646178]|not provided [RCV003437364]likely benignY13055351305535Human1name , alternate_id
15173059CV780238single nucleotide variantNM_172245.4(CSF2RA):c.1044-6T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV000972539]likely benignX13054401305440Human1name , alternate_id
15173059CV780238single nucleotide variantNM_172245.4(CSF2RA):c.1044-6T>CSurfactant metabolism dysfunction, pulmonary, 4 [RCV000972539]likely benignY13054401305440Human1name , alternate_id
38493389CV960992single nucleotide variantNM_172245.4(CSF2RA):c.1044-3C>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV001240653]uncertain significanceX13054431305443Human1name , alternate_id
38493389CV960992single nucleotide variantNM_172245.4(CSF2RA):c.1044-3C>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV001240653]uncertain significanceY13054431305443Human1name , alternate_id
127293641CV1159943single nucleotide variantNM_172245.4(CSF2RA):c.1125+17G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV001511411]|not provided [RCV004714222]benignX13055441305544Human1name , alternate_id
127293641CV1159943single nucleotide variantNM_172245.4(CSF2RA):c.1125+17G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV001511411]|not provided [RCV004714222]benignY13055441305544Human1name , alternate_id
150335412CV1173614single nucleotide variantNM_172245.4(CSF2RA):c.219+151A>Gnot provided [RCV001540550]benignX12860711286071Humanname
150335412CV1173614single nucleotide variantNM_172245.4(CSF2RA):c.219+151A>Gnot provided [RCV001540550]benignY12860711286071Humanname
150334569CV1173615single nucleotide variantNM_172245.4(CSF2RA):c.473+245A>Gnot provided [RCV001540117]benignX12891331289133Humanname
150334569CV1173615single nucleotide variantNM_172245.4(CSF2RA):c.473+245A>Gnot provided [RCV001540117]benignY12891331289133Humanname
150406759CV1178810single nucleotide variantNM_172245.4(CSF2RA):c.220-313G>Anot provided [RCV001545360]likely benignX12882061288206Humanname
150406759CV1178810single nucleotide variantNM_172245.4(CSF2RA):c.220-313G>Anot provided [RCV001545360]likely benignY12882061288206Humanname
150418053CV1182175single nucleotide variantNM_172245.4(CSF2RA):c.647-147C>Gnot provided [RCV001550430]likely benignX12941811294181Humanname
150418053CV1182175single nucleotide variantNM_172245.4(CSF2RA):c.647-147C>Gnot provided [RCV001550430]likely benignY12941811294181Humanname
150425920CV1185871single nucleotide variantNM_172245.4(CSF2RA):c.946+106C>Tnot provided [RCV001558661]likely benignX13007321300732Humanname
150425920CV1185871single nucleotide variantNM_172245.4(CSF2RA):c.946+106C>Tnot provided [RCV001558661]likely benignY13007321300732Humanname
150428616CV1189177single nucleotide variantNM_172245.4(CSF2RA):c.1126-37G>Anot provided [RCV001562489]likely benignX13093651309365Humanname
150428616CV1189177single nucleotide variantNM_172245.4(CSF2RA):c.1126-37G>Anot provided [RCV001562489]likely benignY13093651309365Humanname
150504969CV1211504single nucleotide variantNM_172245.4(CSF2RA):c.220-110A>Gnot provided [RCV001595669]benignX12884091288409Humanname
150504969CV1211504single nucleotide variantNM_172245.4(CSF2RA):c.220-110A>Gnot provided [RCV001595669]benignY12884091288409Humanname
150503695CV1212534single nucleotide variantNM_172245.4(CSF2RA):c.219+118T>Cnot provided [RCV001595409]benignX12860381286038Humanname
150503695CV1212534single nucleotide variantNM_172245.4(CSF2RA):c.219+118T>Cnot provided [RCV001595409]benignY12860381286038Humanname
150505516CV1213547single nucleotide variantNM_172245.4(CSF2RA):c.473+289G>Anot provided [RCV001595803]benignX12891771289177Humanname
150505516CV1213547single nucleotide variantNM_172245.4(CSF2RA):c.473+289G>Anot provided [RCV001595803]benignY12891771289177Humanname
150440755CV1220209single nucleotide variantNM_172245.4(CSF2RA):c.220-112G>Anot provided [RCV001610192]benignX12884071288407Humanname
150440755CV1220209single nucleotide variantNM_172245.4(CSF2RA):c.220-112G>Anot provided [RCV001610192]benignY12884071288407Humanname
150435739CV1221729single nucleotide variantNM_172245.4(CSF2RA):c.473+105G>Tnot provided [RCV001609418]benignX12889931288993Humanname
150435739CV1221729single nucleotide variantNM_172245.4(CSF2RA):c.473+105G>Tnot provided [RCV001609418]benignY12889931288993Humanname
150505386CV1222878single nucleotide variantNM_172245.4(CSF2RA):c.220-311A>Gnot provided [RCV001621812]benignX12882081288208Humanname
150505386CV1222878single nucleotide variantNM_172245.4(CSF2RA):c.220-311A>Gnot provided [RCV001621812]benignY12882081288208Humanname
150502753CV1223297single nucleotide variantNM_172245.4(CSF2RA):c.220-222C>Tnot provided [RCV001621231]benignX12882971288297Humanname
150502753CV1223297single nucleotide variantNM_172245.4(CSF2RA):c.220-222C>Tnot provided [RCV001621231]benignY12882971288297Humanname
150483282CV1223564single nucleotide variantNM_172245.4(CSF2RA):c.1043+31T>Cnot provided [RCV001617278]benignX13040501304050Humanname
150483282CV1223564single nucleotide variantNM_172245.4(CSF2RA):c.1043+31T>Cnot provided [RCV001617278]benignY13040501304050Humanname
150501145CV1223638single nucleotide variantNM_172245.4(CSF2RA):c.810+186T>Cnot provided [RCV001620759]benignX12956421295642Humanname
150501145CV1223638single nucleotide variantNM_172245.4(CSF2RA):c.810+186T>Cnot provided [RCV001620759]benignY12956421295642Humanname
150503439CV1223750single nucleotide variantNM_172245.4(CSF2RA):c.220-106C>Tnot provided [RCV001621399]benignX12884131288413Humanname
150503439CV1223750single nucleotide variantNM_172245.4(CSF2RA):c.220-106C>Tnot provided [RCV001621399]benignY12884131288413Humanname
150499894CV1224680single nucleotide variantNM_172245.4(CSF2RA):c.220-240T>Cnot provided [RCV001620512]benignX12882791288279Humanname
150499894CV1224680single nucleotide variantNM_172245.4(CSF2RA):c.220-240T>Cnot provided [RCV001620512]benignY12882791288279Humanname
150517517CV1226968single nucleotide variantNM_172245.4(CSF2RA):c.647-231T>Cnot provided [RCV001640064]benignX12940971294097Humanname
150517517CV1226968single nucleotide variantNM_172245.4(CSF2RA):c.647-231T>Cnot provided [RCV001640064]benignY12940971294097Humanname
150430665CV1230992single nucleotide variantNM_172245.4(CSF2RA):c.811-135A>Gnot provided [RCV001641541]benignX13003561300356Humanname
150430665CV1230992single nucleotide variantNM_172245.4(CSF2RA):c.811-135A>Gnot provided [RCV001641541]benignY13003561300356Humanname
150443843CV1232931single nucleotide variantNM_172245.4(CSF2RA):c.219+123T>Cnot provided [RCV001645603]benignX12860431286043Humanname
150443843CV1232931single nucleotide variantNM_172245.4(CSF2RA):c.219+123T>Cnot provided [RCV001645603]benignY12860431286043Humanname
150480578CV1239608single nucleotide variantNM_172245.4(CSF2RA):c.220-113T>Cnot provided [RCV001652771]benignX12884061288406Humanname
150480578CV1239608single nucleotide variantNM_172245.4(CSF2RA):c.220-113T>Cnot provided [RCV001652771]benignY12884061288406Humanname
150502536CV1241585single nucleotide variantNM_172245.4(CSF2RA):c.220-121C>Gnot provided [RCV001657176]benignX12883981288398Humanname
150502536CV1241585single nucleotide variantNM_172245.4(CSF2RA):c.220-121C>Gnot provided [RCV001657176]benignY12883981288398Humanname
150456955CV1248723single nucleotide variantNM_172245.4(CSF2RA):c.473+123C>Gnot provided [RCV001668899]benignX12890111289011Humanname
150456955CV1248723single nucleotide variantNM_172245.4(CSF2RA):c.473+123C>Gnot provided [RCV001668899]benignY12890111289011Humanname
150485373CV1250214single nucleotide variantNM_172245.4(CSF2RA):c.946+109C>Gnot provided [RCV001673827]benignX13007351300735Humanname
150485373CV1250214single nucleotide variantNM_172245.4(CSF2RA):c.946+109C>Gnot provided [RCV001673827]benignY13007351300735Humanname
150447276CV1250805single nucleotide variantNM_172245.4(CSF2RA):c.474-144G>Tnot provided [RCV001667310]benignX12901931290193Humanname
150447276CV1250805single nucleotide variantNM_172245.4(CSF2RA):c.474-144G>Tnot provided [RCV001667310]benignY12901931290193Humanname
150490669CV1251067single nucleotide variantNM_172245.4(CSF2RA):c.781-265G>Anot provided [RCV001674734]benignX12951621295162Humanname
150490669CV1251067single nucleotide variantNM_172245.4(CSF2RA):c.781-265G>Anot provided [RCV001674734]benignY12951621295162Humanname
150476973CV1251945single nucleotide variantNM_172245.4(CSF2RA):c.780+103C>Gnot provided [RCV001672144]benignX12945641294564Humanname
150476973CV1251945single nucleotide variantNM_172245.4(CSF2RA):c.780+103C>Gnot provided [RCV001672144]benignY12945641294564Humanname
150460961CV1253182single nucleotide variantNM_172245.4(CSF2RA):c.780+135G>Anot provided [RCV001669511]benignX12945961294596Humanname
150460961CV1253182single nucleotide variantNM_172245.4(CSF2RA):c.780+135G>Anot provided [RCV001669511]benignY12945961294596Humanname
150452799CV1255012single nucleotide variantNM_172245.4(CSF2RA):c.647-244C>Anot provided [RCV001668071]benignX12940841294084Humanname
150452799CV1255012single nucleotide variantNM_172245.4(CSF2RA):c.647-244C>Anot provided [RCV001668071]benignY12940841294084Humanname
150504943CV1255344single nucleotide variantNM_172245.4(CSF2RA):c.810+230A>Gnot provided [RCV001677791]benignX12956861295686Humanname
150504943CV1255344single nucleotide variantNM_172245.4(CSF2RA):c.810+230A>Gnot provided [RCV001677791]benignY12956861295686Humanname
150466719CV1255786single nucleotide variantNM_172245.4(CSF2RA):c.781-255C>Tnot provided [RCV001670420]benignX12951721295172Humanname
150466719CV1255786single nucleotide variantNM_172245.4(CSF2RA):c.781-255C>Tnot provided [RCV001670420]benignY12951721295172Humanname
150496945CV1256623single nucleotide variantNM_172245.4(CSF2RA):c.810+147A>Tnot provided [RCV001676115]benignX12956031295603Humanname
150496945CV1256623single nucleotide variantNM_172245.4(CSF2RA):c.810+147A>Tnot provided [RCV001676115]benignY12956031295603Humanname
150506258CV1257294single nucleotide variantNM_172245.4(CSF2RA):c.220-245G>Cnot provided [RCV001678132]benignX12882741288274Humanname
150506258CV1257294single nucleotide variantNM_172245.4(CSF2RA):c.220-245G>Cnot provided [RCV001678132]benignY12882741288274Humanname
150506315CV1257308single nucleotide variantNM_172245.4(CSF2RA):c.-26-137A>Gnot provided [RCV001678146]benignX12825411282541Humanname
150506315CV1257308single nucleotide variantNM_172245.4(CSF2RA):c.-26-137A>Gnot provided [RCV001678146]benignY12825411282541Humanname
150492574CV1257385single nucleotide variantNM_172245.4(CSF2RA):c.473+158C>Tnot provided [RCV001675058]benignX12890461289046Humanname
150492574CV1257385single nucleotide variantNM_172245.4(CSF2RA):c.473+158C>Tnot provided [RCV001675058]benignY12890461289046Humanname
150479826CV1258317single nucleotide variantNM_172245.4(CSF2RA):c.-26-193G>Anot provided [RCV001685736]benignX12824851282485Humanname
150479826CV1258317single nucleotide variantNM_172245.4(CSF2RA):c.-26-193G>Anot provided [RCV001685736]benignY12824851282485Humanname
150468898CV1259567single nucleotide variantNM_172245.4(CSF2RA):c.474-143T>Gnot provided [RCV001683867]benignX12901941290194Humanname
150468898CV1259567single nucleotide variantNM_172245.4(CSF2RA):c.474-143T>Gnot provided [RCV001683867]benignY12901941290194Humanname
150469512CV1259671single nucleotide variantNM_172245.4(CSF2RA):c.220-139G>Anot provided [RCV001683972]benignX12883801288380Humanname
150469512CV1259671single nucleotide variantNM_172245.4(CSF2RA):c.220-139G>Anot provided [RCV001683972]benignY12883801288380Humanname
150486184CV1262539single nucleotide variantNM_172245.4(CSF2RA):c.220-131G>Anot provided [RCV001686936]benignX12883881288388Humanname
150486184CV1262539single nucleotide variantNM_172245.4(CSF2RA):c.220-131G>Anot provided [RCV001686936]benignY12883881288388Humanname
150484037CV1263094single nucleotide variantNM_172245.4(CSF2RA):c.1044-74G>Anot provided [RCV001686494]benignX13053721305372Humanname
150484037CV1263094single nucleotide variantNM_172245.4(CSF2RA):c.1044-74G>Anot provided [RCV001686494]benignY13053721305372Humanname
150439836CV1265025single nucleotide variantNM_172245.4(CSF2RA):c.220-273C>Gnot provided [RCV001679018]benignX12882461288246Humanname
150439836CV1265025single nucleotide variantNM_172245.4(CSF2RA):c.220-273C>Gnot provided [RCV001679018]benignY12882461288246Humanname
150498755CV1270706single nucleotide variantNM_172245.4(CSF2RA):c.219+128G>Anot provided [RCV001689254]benignX12860481286048Humanname
150498755CV1270706single nucleotide variantNM_172245.4(CSF2RA):c.219+128G>Anot provided [RCV001689254]benignY12860481286048Humanname
150473684CV1272211single nucleotide variantNM_172245.4(CSF2RA):c.947-251G>Anot provided [RCV001695749]benignX13036721303672Humanname
150473684CV1272211single nucleotide variantNM_172245.4(CSF2RA):c.947-251G>Anot provided [RCV001695749]benignY13036721303672Humanname
150449349CV1273621single nucleotide variantNM_172245.4(CSF2RA):c.780+323C>Gnot provided [RCV001691721]benignX12947841294784Humanname
150449349CV1273621single nucleotide variantNM_172245.4(CSF2RA):c.780+323C>Gnot provided [RCV001691721]benignY12947841294784Humanname
150484829CV1274062single nucleotide variantNM_172245.4(CSF2RA):c.810+139G>Anot provided [RCV001698578]benignX12955951295595Humanname
150484829CV1274062single nucleotide variantNM_172245.4(CSF2RA):c.810+139G>Anot provided [RCV001698578]benignY12955951295595Humanname
150457950CV1278699single nucleotide variantNM_172245.4(CSF2RA):c.220-221A>Gnot provided [RCV001709315]benignX12882981288298Humanname
150457950CV1278699single nucleotide variantNM_172245.4(CSF2RA):c.220-221A>Gnot provided [RCV001709315]benignY12882981288298Humanname
150442226CV1287690single nucleotide variantNM_172245.4(CSF2RA):c.220-123T>Cnot provided [RCV001725410]benignX12883961288396Humanname
150442226CV1287690single nucleotide variantNM_172245.4(CSF2RA):c.220-123T>Cnot provided [RCV001725410]benignY12883961288396Humanname
152033200CV1568018single nucleotide variantNM_172245.4(CSF2RA):c.1044-20A>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV002205129]likely benignX13054261305426Human1name , alternate_id
152033200CV1568018single nucleotide variantNM_172245.4(CSF2RA):c.1044-20A>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV002205129]likely benignY13054261305426Human1name , alternate_id
156175718CV1927657single nucleotide variantNM_172245.4(CSF2RA):c.1125+16C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV002624865]likely benignX13055431305543Human1name , alternate_id
156175718CV1927657single nucleotide variantNM_172245.4(CSF2RA):c.1125+16C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV002624865]likely benignY13055431305543Human1name , alternate_id
156008421CV1981432single nucleotide variantNM_172245.4(CSF2RA):c.1043+19G>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV002618777]likely benignX13040381304038Human1name , alternate_id
156008421CV1981432single nucleotide variantNM_172245.4(CSF2RA):c.1043+19G>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV002618777]likely benignY13040381304038Human1name , alternate_id
156091147CV2102673single nucleotide variantNM_172245.4(CSF2RA):c.1125+20G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002913041]likely benignX13055471305547Human1name , alternate_id
156091147CV2102673single nucleotide variantNM_172245.4(CSF2RA):c.1125+20G>ASurfactant metabolism dysfunction, pulmonary, 4 [RCV002913041]likely benignY13055471305547Human1name , alternate_id
405238946CV3165800single nucleotide variantNM_172245.4(CSF2RA):c.1126-15C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV003866812]likely benignX13093871309387Human1name , alternate_id
405238946CV3165800single nucleotide variantNM_172245.4(CSF2RA):c.1126-15C>TSurfactant metabolism dysfunction, pulmonary, 4 [RCV003866812]likely benignY13093871309387Human1name , alternate_id
597968281CV3853419single nucleotide variantNM_172245.4(CSF2RA):c.1126-14C>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV005195061]likely benignY13093881309388Human1name , alternate_id
597968281CV3853419single nucleotide variantNM_172245.4(CSF2RA):c.1126-14C>GSurfactant metabolism dysfunction, pulmonary, 4 [RCV005195061]likely benignX13093881309388Human1name , alternate_id
150415672CV1178811single nucleotide variantNM_172245.4(CSF2RA):c.1126-122A>Gnot provided [RCV001548682]likely benignX13092801309280Humanname
150415672CV1178811single nucleotide variantNM_172245.4(CSF2RA):c.1126-122A>Gnot provided [RCV001548682]likely benignY13092801309280Humanname
150511396CV1229451single nucleotide variantNM_172245.4(CSF2RA):c.1126-215C>Tnot provided [RCV001637380]benignX13091871309187Humanname
150511396CV1229451single nucleotide variantNM_172245.4(CSF2RA):c.1126-215C>Tnot provided [RCV001637380]benignY13091871309187Humanname
150454381CV1232260single nucleotide variantNM_172245.4(CSF2RA):c.1125+415T>Cnot provided [RCV001648273]benignX13059421305942Humanname
150454381CV1232260single nucleotide variantNM_172245.4(CSF2RA):c.1125+415T>Cnot provided [RCV001648273]benignY13059421305942Humanname
150509573CV1247344single nucleotide variantNM_172245.4(CSF2RA):c.1126-219C>Tnot provided [RCV001659371]benignX13091831309183Humanname
150509573CV1247344single nucleotide variantNM_172245.4(CSF2RA):c.1126-219C>Tnot provided [RCV001659371]benignY13091831309183Humanname
150505087CV1255380single nucleotide variantNM_172245.4(CSF2RA):c.1126-149T>Cnot provided [RCV001677827]benignX13092531309253Humanname
150505087CV1255380single nucleotide variantNM_172245.4(CSF2RA):c.1126-149T>Cnot provided [RCV001677827]benignY13092531309253Humanname
150482897CV1261694single nucleotide variantNM_172245.4(CSF2RA):c.1044-232A>Gnot provided [RCV001686298]benignX13052141305214Humanname
150482897CV1261694single nucleotide variantNM_172245.4(CSF2RA):c.1044-232A>Gnot provided [RCV001686298]benignY13052141305214Humanname
150466256CV1277374single nucleotide variantNM_172245.4(CSF2RA):c.1043+127T>Cnot provided [RCV001710669]benignX13041461304146Humanname
150466256CV1277374single nucleotide variantNM_172245.4(CSF2RA):c.1043+127T>Cnot provided [RCV001710669]benignY13041461304146Humanname
150510141CV1286697single nucleotide variantNM_172245.4(CSF2RA):c.1126-155C>Tnot provided [RCV001720932]benignX13092471309247Humanname
150510141CV1286697single nucleotide variantNM_172245.4(CSF2RA):c.1126-155C>Tnot provided [RCV001720932]benignY13092471309247Humanname
9689853CV178253single nucleotide variantNM_172245.4(CSF2RA):c.1125+128G>Anot provided [RCV001668314]|not specified [RCV000155478]benignX13056551305655Humanname
9689853CV178253single nucleotide variantNM_172245.4(CSF2RA):c.1125+128G>Anot provided [RCV001668314]|not specified [RCV000155478]benignY13056551305655Humanname
408378600CV3514545single nucleotide variantNM_172245.4(CSF2RA):c.1125+172G>TCSF2RA-related disorder [RCV004752348]likely benignX13056991305699Humanname , trait , alternate_id
408378600CV3514545single nucleotide variantNM_172245.4(CSF2RA):c.1125+172G>TCSF2RA-related disorder [RCV004752348]likely benignY13056991305699Humanname , trait , alternate_id
13465008CV472234duplicationNM_172245.4(CSF2RA):c.774_780+10dupSurfactant metabolism dysfunction, pulmonary, 4 [RCV005208581]|not specified [RCV000604731]benign|likely benign|uncertain significanceX12944531294454Human1name , alternate_id
13465008CV472234duplicationNM_172245.4(CSF2RA):c.774_780+10dupSurfactant metabolism dysfunction, pulmonary, 4 [RCV005208581]|not specified [RCV000604731]benign|likely benign|uncertain significanceY12944531294454Human1name , alternate_id
150490349CV1239099deletionNM_172245.4(CSF2RA):c.77-58_77-46delnot provided [RCV001654667]benignX12857201285732Humanname
150490349CV1239099deletionNM_172245.4(CSF2RA):c.77-58_77-46delnot provided [RCV001654667]benignY12857201285732Humanname
401905026CV2823729single nucleotide variantNM_001379159.1(CSF2RA):c.*39-2557C>Tnot provided [RCV003440863]likely benignX13224711322471Humanname
401905026CV2823729single nucleotide variantNM_001379159.1(CSF2RA):c.*39-2557C>Tnot provided [RCV003440863]likely benignY13224711322471Humanname
127324973CV1151076single nucleotide variantNM_172245.4(CSF2RA):c.15G>T (p.Val5=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001485640]likely benignX12827181282718Human1name , alternate_id
127324973CV1151076single nucleotide variantNM_172245.4(CSF2RA):c.15G>T (p.Val5=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001485640]likely benignY12827181282718Human1name , alternate_id
150506420CV1257335microsatelliteNM_172245.4(CSF2RA):c.474-309TGTTT[2]not provided [RCV001678174]benignX12900281290032Humanname
150506420CV1257335microsatelliteNM_172245.4(CSF2RA):c.474-309TGTTT[2]not provided [RCV001678174]benignY12900281290032Humanname
150448932CV1270529microsatelliteNM_172245.4(CSF2RA):c.811-261AAATA[2]not provided [RCV001691667]benignX13002301300234Humanname
150448932CV1270529microsatelliteNM_172245.4(CSF2RA):c.811-261AAATA[2]not provided [RCV001691667]benignY13002301300234Humanname
152073576CV1660348single nucleotide variantNM_172245.4(CSF2RA):c.27G>A (p.Leu9=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002169607]likely benignX12827301282730Human1name , alternate_id
152073576CV1660348single nucleotide variantNM_172245.4(CSF2RA):c.27G>A (p.Leu9=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002169607]likely benignY12827301282730Human1name , alternate_id
156406278CV1894849single nucleotide variantNM_172245.4(CSF2RA):c.25C>T (p.Leu9=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003070301]likely benignX12827281282728Human1name , alternate_id
156406278CV1894849single nucleotide variantNM_172245.4(CSF2RA):c.25C>T (p.Leu9=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003070301]likely benignY12827281282728Human1name , alternate_id
402514036CV2910978single nucleotide variantNM_172245.4(CSF2RA):c.12G>C (p.Leu4=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003510125]likely benignX12827151282715Human1name , alternate_id
402514036CV2910978single nucleotide variantNM_172245.4(CSF2RA):c.12G>C (p.Leu4=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003510125]likely benignY12827151282715Human1name , alternate_id
597880722CV3744851single nucleotide variantNM_172245.4(CSF2RA):c.21C>T (p.Ser7=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005069876]likely benignX12827241282724Human1name , alternate_id
597880722CV3744851single nucleotide variantNM_172245.4(CSF2RA):c.21C>T (p.Ser7=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005069876]likely benignY12827241282724Human1name , alternate_id
127274548CV1108658single nucleotide variantNM_172245.4(CSF2RA):c.57C>T (p.Leu19=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001431987]likely benignX12827601282760Human1name , alternate_id
127274548CV1108658single nucleotide variantNM_172245.4(CSF2RA):c.57C>T (p.Leu19=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001431987]likely benignY12827601282760Human1name , alternate_id
127304923CV1151077single nucleotide variantNM_172245.4(CSF2RA):c.87A>G (p.Thr29=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001499791]likely benignX12857881285788Human1name , alternate_id
127304923CV1151077single nucleotide variantNM_172245.4(CSF2RA):c.87A>G (p.Thr29=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001499791]likely benignY12857881285788Human1name , alternate_id
127294400CV1159940deletionNM_172245.4(CSF2RA):c.473+16_473+17delSurfactant metabolism dysfunction, pulmonary, 4 [RCV001511735]|not provided [RCV001692399]benignX12889041288905Human1name , alternate_id
127294400CV1159940deletionNM_172245.4(CSF2RA):c.473+16_473+17delSurfactant metabolism dysfunction, pulmonary, 4 [RCV001511735]|not provided [RCV001692399]benignY12889041288905Human1name , alternate_id
150484422CV1250018microsatelliteNM_172245.4(CSF2RA):c.77-140_77-134delnot provided [RCV001673631]benignX12856291285635Humanname
150484422CV1250018microsatelliteNM_172245.4(CSF2RA):c.77-140_77-134delnot provided [RCV001673631]benignY12856291285635Humanname
152073302CV1615403microsatelliteNM_172245.4(CSF2RA):c.473+19_473+20delSurfactant metabolism dysfunction, pulmonary, 4 [RCV002091885]likely benignX12889051288906Humanname , alternate_id
152073302CV1615403microsatelliteNM_172245.4(CSF2RA):c.473+19_473+20delSurfactant metabolism dysfunction, pulmonary, 4 [RCV002091885]likely benignY12889051288906Humanname , alternate_id
156020627CV2081444deletionNM_172245.4(CSF2RA):c.473+14_473+15delSurfactant metabolism dysfunction, pulmonary, 4 [RCV002866587]likely benignX12889011288902Human1name , alternate_id
156020627CV2081444deletionNM_172245.4(CSF2RA):c.473+14_473+15delSurfactant metabolism dysfunction, pulmonary, 4 [RCV002866587]likely benignY12889011288902Human1name , alternate_id
597891703CV3809718single nucleotide variantNM_172245.4(CSF2RA):c.99C>G (p.Ala33=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005151437]likely benignX12858001285800Human1name , alternate_id
597891703CV3809718single nucleotide variantNM_172245.4(CSF2RA):c.99C>G (p.Ala33=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005151437]likely benignY12858001285800Human1name , alternate_id
38486807CV939704single nucleotide variantNM_172245.4(CSF2RA):c.75G>A (p.Ser25=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001209053]uncertain significanceX12827781282778Human1name , alternate_id
38486807CV939704single nucleotide variantNM_172245.4(CSF2RA):c.75G>A (p.Ser25=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001209053]uncertain significanceY12827781282778Human1name , alternate_id
127237977CV1086956single nucleotide variantNM_172245.4(CSF2RA):c.156A>G (p.Gln52=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001392400]likely benignX12858571285857Human1name , alternate_id
127237977CV1086956single nucleotide variantNM_172245.4(CSF2RA):c.156A>G (p.Gln52=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001392400]likely benignY12858571285857Human1name , alternate_id
127284007CV1108660single nucleotide variantNM_172245.4(CSF2RA):c.273A>C (p.Gly91=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001448914]likely benignX12885721288572Human1name , alternate_id
127284007CV1108660single nucleotide variantNM_172245.4(CSF2RA):c.273A>C (p.Gly91=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001448914]likely benignY12885721288572Human1name , alternate_id
127333239CV1151078single nucleotide variantNM_172245.4(CSF2RA):c.216C>G (p.Pro72=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001490040]likely benignX12859171285917Human1name , alternate_id
127333239CV1151078single nucleotide variantNM_172245.4(CSF2RA):c.216C>G (p.Pro72=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001490040]likely benignY12859171285917Human1name , alternate_id
151877978CV1383378single nucleotide variantNM_172245.4(CSF2RA):c.14T>C (p.Val5Ala)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001907303]uncertain significanceX12827171282717Human1name , alternate_id
151877978CV1383378single nucleotide variantNM_172245.4(CSF2RA):c.14T>C (p.Val5Ala)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001907303]uncertain significanceY12827171282717Human1name , alternate_id
151739609CV1390230single nucleotide variantNM_172245.4(CSF2RA):c.20G>A (p.Ser7Asn)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001893137]uncertain significanceX12827231282723Human1name , alternate_id
151739609CV1390230single nucleotide variantNM_172245.4(CSF2RA):c.20G>A (p.Ser7Asn)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001893137]uncertain significanceY12827231282723Human1name , alternate_id
152090117CV1550557single nucleotide variantNM_172245.4(CSF2RA):c.132G>T (p.Thr44=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002131939]likely benignX12858331285833Human1name , alternate_id
152090117CV1550557single nucleotide variantNM_172245.4(CSF2RA):c.132G>T (p.Thr44=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002131939]likely benignY12858331285833Human1name , alternate_id
152139691CV1608293single nucleotide variantNM_172245.4(CSF2RA):c.240G>A (p.Ser80=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002200417]likely benignX12885391288539Human1name , alternate_id
152139691CV1608293single nucleotide variantNM_172245.4(CSF2RA):c.240G>A (p.Ser80=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002200417]likely benignY12885391288539Human1name , alternate_id
152132815CV1630294single nucleotide variantNM_172245.4(CSF2RA):c.240G>C (p.Ser80=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002177025]likely benignX12885391288539Human1name , alternate_id
152132815CV1630294single nucleotide variantNM_172245.4(CSF2RA):c.240G>C (p.Ser80=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002177025]likely benignY12885391288539Human1name , alternate_id
152115565CV1654106single nucleotide variantNM_172245.4(CSF2RA):c.207C>T (p.Val69=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002097431]likely benignX12859081285908Human1name , alternate_id
152115565CV1654106single nucleotide variantNM_172245.4(CSF2RA):c.207C>T (p.Val69=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002097431]likely benignY12859081285908Human1name , alternate_id
152050021CV1656347single nucleotide variantNM_172245.4(CSF2RA):c.183C>T (p.Phe61=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002207402]likely benignX12858841285884Human1name , alternate_id
152050021CV1656347single nucleotide variantNM_172245.4(CSF2RA):c.183C>T (p.Phe61=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002207402]likely benignY12858841285884Human1name , alternate_id
156048313CV2006596single nucleotide variantNM_172245.4(CSF2RA):c.231C>T (p.Asn77=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002659281]likely benignX12885301288530Human1name , alternate_id
156048313CV2006596single nucleotide variantNM_172245.4(CSF2RA):c.231C>T (p.Asn77=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002659281]likely benignY12885301288530Human1name , alternate_id
156145884CV2188236single nucleotide variantNM_172245.4(CSF2RA):c.17C>A (p.Thr6Lys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003056357]uncertain significanceX12827201282720Human1name , alternate_id
156145884CV2188236single nucleotide variantNM_172245.4(CSF2RA):c.17C>A (p.Thr6Lys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003056357]uncertain significanceY12827201282720Human1name , alternate_id
11093797CV231342single nucleotide variantNM_172245.4(CSF2RA):c.279A>G (p.Thr93=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000530965]|not provided [RCV001701800]|not specified [RCV000220235]benign|likely benignY12885781288578Human1name , alternate_id
11093797CV231342single nucleotide variantNM_172245.4(CSF2RA):c.279A>G (p.Thr93=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000530965]|not provided [RCV001701800]|not specified [RCV000220235]benign|likely benignX12885781288578Human1name , alternate_id
405172541CV3079262single nucleotide variantNM_172245.4(CSF2RA):c.291C>T (p.His97=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622259]likely benignX12885901288590Human1name , alternate_id
405172541CV3079262single nucleotide variantNM_172245.4(CSF2RA):c.291C>T (p.His97=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622259]likely benignY12885901288590Human1name , alternate_id
405245783CV3161801single nucleotide variantNM_172245.4(CSF2RA):c.213A>G (p.Glu71=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003868514]likely benignX12859141285914Human1name , alternate_id
405245783CV3161801single nucleotide variantNM_172245.4(CSF2RA):c.213A>G (p.Glu71=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003868514]likely benignY12859141285914Human1name , alternate_id
597852220CV3758548single nucleotide variantNM_172245.4(CSF2RA):c.285G>A (p.Glu95=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005088107]likely benignX12885841288584Human1name , alternate_id
597852220CV3758548single nucleotide variantNM_172245.4(CSF2RA):c.285G>A (p.Glu95=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005088107]likely benignY12885841288584Human1name , alternate_id
15174619CV774277single nucleotide variantNM_172245.4(CSF2RA):c.294G>A (p.Val98=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001401555]likely benignX12885931288593Human1name , alternate_id
15174619CV774277single nucleotide variantNM_172245.4(CSF2RA):c.294G>A (p.Val98=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001401555]likely benignY12885931288593Human1name , alternate_id
38485791CV929842single nucleotide variantNM_172245.4(CSF2RA):c.21C>A (p.Ser7Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001220008]uncertain significanceX12827241282724Human1name , alternate_id
38485791CV929842single nucleotide variantNM_172245.4(CSF2RA):c.21C>A (p.Ser7Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001220008]uncertain significanceY12827241282724Human1name , alternate_id
126917729CV1052566single nucleotide variantNM_172245.4(CSF2RA):c.43C>T (p.His15Tyr)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001372240]uncertain significanceX12827461282746Human1name , alternate_id
126917729CV1052566single nucleotide variantNM_172245.4(CSF2RA):c.43C>T (p.His15Tyr)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001372240]uncertain significanceY12827461282746Human1name , alternate_id
127265460CV1065543single nucleotide variantNM_172245.4(CSF2RA):c.82C>T (p.Arg28Ter)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001388457]pathogenicX12857831285783Human1name , alternate_id
127265460CV1065543single nucleotide variantNM_172245.4(CSF2RA):c.82C>T (p.Arg28Ter)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001388457]pathogenicY12857831285783Human1name , alternate_id
127268893CV1065544duplicationNM_172245.4(CSF2RA):c.140dup (p.Leu47fs)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001382275]pathogenicX12858381285839Human1name , alternate_id
127268893CV1065544duplicationNM_172245.4(CSF2RA):c.140dup (p.Leu47fs)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001382275]pathogenicY12858381285839Human1name , alternate_id
127232771CV1086957single nucleotide variantNM_172245.4(CSF2RA):c.798G>A (p.Thr266=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001413616]likely benignX12954441295444Human1name , alternate_id
127232771CV1086957single nucleotide variantNM_172245.4(CSF2RA):c.798G>A (p.Thr266=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001413616]likely benignY12954441295444Human1name , alternate_id
127277481CV1086958single nucleotide variantNM_172245.4(CSF2RA):c.900C>T (p.Asp300=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001407856]likely benignX13005801300580Human1name , alternate_id
127277481CV1086958single nucleotide variantNM_172245.4(CSF2RA):c.900C>T (p.Asp300=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001407856]likely benignY13005801300580Human1name , alternate_id
127241125CV1108661single nucleotide variantNM_172245.4(CSF2RA):c.556T>C (p.Leu186=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001434357]likely benignX12904191290419Human1name , alternate_id
127241125CV1108661single nucleotide variantNM_172245.4(CSF2RA):c.556T>C (p.Leu186=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001434357]likely benignY12904191290419Human1name , alternate_id
127256509CV1108662single nucleotide variantNM_172245.4(CSF2RA):c.690G>A (p.Thr230=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001437708]likely benignX12943711294371Human1name , alternate_id
127256509CV1108662single nucleotide variantNM_172245.4(CSF2RA):c.690G>A (p.Thr230=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001437708]likely benignY12943711294371Human1name , alternate_id
127303163CV1130068single nucleotide variantNM_172245.4(CSF2RA):c.417G>A (p.Ala139=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001461869]likely benignX12888321288832Human1name , alternate_id
127303163CV1130068single nucleotide variantNM_172245.4(CSF2RA):c.417G>A (p.Ala139=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001461869]likely benignY12888321288832Human1name , alternate_id
127329830CV1130069single nucleotide variantNM_172245.4(CSF2RA):c.447G>A (p.Gln149=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001470444]likely benignX12888621288862Human1name , alternate_id
127329830CV1130069single nucleotide variantNM_172245.4(CSF2RA):c.447G>A (p.Gln149=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001470444]likely benignY12888621288862Human1name , alternate_id
127330238CV1130070single nucleotide variantNM_172245.4(CSF2RA):c.525T>C (p.His175=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001470759]likely benignX12903881290388Human1name , alternate_id
127330238CV1130070single nucleotide variantNM_172245.4(CSF2RA):c.525T>C (p.His175=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001470759]likely benignY12903881290388Human1name , alternate_id
127334768CV1130071single nucleotide variantNM_172245.4(CSF2RA):c.741G>A (p.Ser247=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001473843]likely benignX12944221294422Human1name , alternate_id
127334768CV1130071single nucleotide variantNM_172245.4(CSF2RA):c.741G>A (p.Ser247=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001473843]likely benignY12944221294422Human1name , alternate_id
127306211CV1151079single nucleotide variantNM_172245.4(CSF2RA):c.585C>T (p.Asn195=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001500144]|not provided [RCV003992529]likely benignX12904481290448Human1name , alternate_id
127306211CV1151079single nucleotide variantNM_172245.4(CSF2RA):c.585C>T (p.Asn195=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001500144]|not provided [RCV003992529]likely benignY12904481290448Human1name , alternate_id
127333235CV1151080single nucleotide variantNM_172245.4(CSF2RA):c.855C>T (p.Ser285=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001490038]likely benignX13005351300535Human1name , alternate_id
127333235CV1151080single nucleotide variantNM_172245.4(CSF2RA):c.855C>T (p.Ser285=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001490038]likely benignY13005351300535Human1name , alternate_id
127322778CV1159939single nucleotide variantNM_172245.4(CSF2RA):c.393G>A (p.Ala131=)CSF2RA-related disorder [RCV003900777]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001523663]benign|likely benignX12888081288808Human1name , trait , alternate_id
127322778CV1159939single nucleotide variantNM_172245.4(CSF2RA):c.393G>A (p.Ala131=)CSF2RA-related disorder [RCV003900777]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001523663]benign|likely benignY12888081288808Human1name , trait , alternate_id
127318636CV1159942single nucleotide variantNM_172245.4(CSF2RA):c.693G>A (p.Thr231=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001521734]benignX12943741294374Human1name , alternate_id
127318636CV1159942single nucleotide variantNM_172245.4(CSF2RA):c.693G>A (p.Thr231=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001521734]benignY12943741294374Human1name , alternate_id
150510967CV1229310duplicationNM_172245.4(CSF2RA):c.647-286_647-285dupnot provided [RCV001637238]benignX12940411294042Humanname
150510967CV1229310duplicationNM_172245.4(CSF2RA):c.647-286_647-285dupnot provided [RCV001637238]benignY12940411294042Humanname
150446776CV1232151deletionNM_172245.4(CSF2RA):c.647-290_647-207delnot provided [RCV001646059]benignX12940141294097Humanname
150446776CV1232151deletionNM_172245.4(CSF2RA):c.647-290_647-207delnot provided [RCV001646059]benignY12940141294097Humanname
152104901CV1536593single nucleotide variantNM_172245.4(CSF2RA):c.708G>A (p.Arg236=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002173581]likely benignX12943891294389Human1name , alternate_id
152104901CV1536593single nucleotide variantNM_172245.4(CSF2RA):c.708G>A (p.Arg236=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002173581]likely benignY12943891294389Human1name , alternate_id
152075574CV1551214single nucleotide variantNM_172245.4(CSF2RA):c.663C>A (p.Pro221=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002192360]likely benignX12943441294344Human1name , alternate_id
152075574CV1551214single nucleotide variantNM_172245.4(CSF2RA):c.663C>A (p.Pro221=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002192360]likely benignY12943441294344Human1name , alternate_id
152030058CV1565975single nucleotide variantNM_172245.4(CSF2RA):c.426G>A (p.Pro142=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002086017]likely benignX12888411288841Human1name , alternate_id
152030058CV1565975single nucleotide variantNM_172245.4(CSF2RA):c.426G>A (p.Pro142=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002086017]likely benignY12888411288841Human1name , alternate_id
152103318CV1569422single nucleotide variantNM_172245.4(CSF2RA):c.954C>T (p.Asp318=)CSF2RA-related disorder [RCV003978667]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV002115629]likely benignX13039301303930Human1name , trait , alternate_id
152103318CV1569422single nucleotide variantNM_172245.4(CSF2RA):c.954C>T (p.Asp318=)CSF2RA-related disorder [RCV003978667]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV002115629]likely benignY13039301303930Human1name , trait , alternate_id
152133350CV1585232single nucleotide variantNM_172245.4(CSF2RA):c.408T>C (p.Cys136=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002083170]likely benignX12888231288823Human1name , alternate_id
152133350CV1585232single nucleotide variantNM_172245.4(CSF2RA):c.408T>C (p.Cys136=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002083170]likely benignY12888231288823Human1name , alternate_id
152165705CV1611421microsatelliteNM_172245.4(CSF2RA):c.1044-11_1044-10delCSF2RA-related disorder [RCV003895826]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV002141769]likely benignX13054321305433Humanname , trait , alternate_id
152165705CV1611421microsatelliteNM_172245.4(CSF2RA):c.1044-11_1044-10delCSF2RA-related disorder [RCV003895826]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV002141769]likely benignY13054321305433Humanname , trait , alternate_id
152099756CV1627322single nucleotide variantNM_172245.4(CSF2RA):c.960G>C (p.Gly320=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002095363]likely benignX13039361303936Human1name , alternate_id
152099756CV1627322single nucleotide variantNM_172245.4(CSF2RA):c.960G>C (p.Gly320=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002095363]likely benignY13039361303936Human1name , alternate_id
152160367CV1642459single nucleotide variantNM_172245.4(CSF2RA):c.418A>C (p.Arg140=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002103683]likely benignX12888331288833Human1name , alternate_id
152160367CV1642459single nucleotide variantNM_172245.4(CSF2RA):c.418A>C (p.Arg140=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002103683]likely benignY12888331288833Human1name , alternate_id
9689850CV178249single nucleotide variantNM_172245.4(CSF2RA):c.50C>G (p.Ala17Gly)CSF2RA-related disorder [RCV003917530]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001513022]|not provided [RCV001675644]|not specified [RCV000155474]benignX12827531282753Human1name , trait , alternate_id
9689850CV178249single nucleotide variantNM_172245.4(CSF2RA):c.50C>G (p.Ala17Gly)CSF2RA-related disorder [RCV003917530]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001513022]|not provided [RCV001675644]|not specified [RCV000155474]benignY12827531282753Human1name , trait , alternate_id
9689851CV178251single nucleotide variantNM_172245.4(CSF2RA):c.561G>A (p.Thr187=)CSF2RA-related disorder [RCV003907478]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000534761]|not provided [RCV001689702]|not specified [RCV000155476]benignY12904241290424Human1name , trait , alternate_id
9689851CV178251single nucleotide variantNM_172245.4(CSF2RA):c.561G>A (p.Thr187=)CSF2RA-related disorder [RCV003907478]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000534761]|not provided [RCV001689702]|not specified [RCV000155476]benignX12904241290424Human1name , trait , alternate_id
9689852CV178252single nucleotide variantNM_172245.4(CSF2RA):c.999G>A (p.Val333=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001514160]|not provided [RCV001668313]|not specified [RCV000155477]benignY13039751303975Human1name , alternate_id
9689852CV178252single nucleotide variantNM_172245.4(CSF2RA):c.999G>A (p.Val333=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001514160]|not provided [RCV001668313]|not specified [RCV000155477]benignX13039751303975Human1name , alternate_id
156286918CV1900681single nucleotide variantNM_172245.4(CSF2RA):c.552A>G (p.Ser184=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002598592]likely benignX12904151290415Human1name , alternate_id
156286918CV1900681single nucleotide variantNM_172245.4(CSF2RA):c.552A>G (p.Ser184=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002598592]likely benignY12904151290415Human1name , alternate_id
10049722CV190850single nucleotide variantNM_172245.4(CSF2RA):c.921C>T (p.Ser307=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001088711]|not provided [RCV000173821]likely benign|conflicting interpretations of pathogenicity|uncertain significanceX13006011300601Human1name , alternate_id
10049722CV190850single nucleotide variantNM_172245.4(CSF2RA):c.921C>T (p.Ser307=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001088711]|not provided [RCV000173821]likely benign|conflicting interpretations of pathogenicity|uncertain significanceY13006011300601Human1name , alternate_id
156121968CV1969228single nucleotide variantNM_172245.4(CSF2RA):c.720C>T (p.Pro240=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002593165]likely benignX12944011294401Human1name , alternate_id
156121968CV1969228single nucleotide variantNM_172245.4(CSF2RA):c.720C>T (p.Pro240=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002593165]likely benignY12944011294401Human1name , alternate_id
156183055CV2033661single nucleotide variantNM_172245.4(CSF2RA):c.35A>G (p.Glu12Gly)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002765673]uncertain significanceX12827381282738Human1name , alternate_id
156183055CV2033661single nucleotide variantNM_172245.4(CSF2RA):c.35A>G (p.Glu12Gly)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002765673]uncertain significanceY12827381282738Human1name , alternate_id
156118389CV2086717single nucleotide variantNM_172245.4(CSF2RA):c.825T>C (p.Gly275=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002871165]likely benignX13005051300505Human1name , alternate_id
156118389CV2086717single nucleotide variantNM_172245.4(CSF2RA):c.825T>C (p.Gly275=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002871165]likely benignY13005051300505Human1name , alternate_id
156217543CV2111079single nucleotide variantNM_172245.4(CSF2RA):c.318A>G (p.Gln106=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002932324]likely benignX12886171288617Human1name , alternate_id
156217543CV2111079single nucleotide variantNM_172245.4(CSF2RA):c.318A>G (p.Gln106=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002932324]likely benignY12886171288617Human1name , alternate_id
156004204CV2126472single nucleotide variantNM_172245.4(CSF2RA):c.768C>T (p.Asp256=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002975326]likely benignX12944491294449Human1name , alternate_id
156004204CV2126472single nucleotide variantNM_172245.4(CSF2RA):c.768C>T (p.Asp256=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002975326]likely benignY12944491294449Human1name , alternate_id
156018007CV2151455single nucleotide variantNM_172245.4(CSF2RA):c.495T>C (p.Cys165=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003018088]likely benignX12903581290358Human1name , alternate_id
156018007CV2151455single nucleotide variantNM_172245.4(CSF2RA):c.495T>C (p.Cys165=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003018088]likely benignY12903581290358Human1name , alternate_id
156131091CV2152041single nucleotide variantNM_172245.4(CSF2RA):c.957C>T (p.Asp319=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003003360]likely benignX13039331303933Human1name , alternate_id
156131091CV2152041single nucleotide variantNM_172245.4(CSF2RA):c.957C>T (p.Asp319=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003003360]likely benignY13039331303933Human1name , alternate_id
11096351CV231306single nucleotide variantNM_172245.4(CSF2RA):c.300T>C (p.Thr100=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646176]|not specified [RCV000223467]benignX12885991288599Human1name , alternate_id
11096351CV231306single nucleotide variantNM_172245.4(CSF2RA):c.300T>C (p.Thr100=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646176]|not specified [RCV000223467]benignY12885991288599Human1name , alternate_id
11089774CV231307single nucleotide variantNM_172245.4(CSF2RA):c.549G>C (p.Leu183=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646173]|not provided [RCV004713413]|not specified [RCV000215233]benignX12904121290412Human1name , alternate_id
11089774CV231307single nucleotide variantNM_172245.4(CSF2RA):c.549G>C (p.Leu183=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646173]|not provided [RCV004713413]|not specified [RCV000215233]benignY12904121290412Human1name , alternate_id
402515701CV2923493single nucleotide variantNM_172245.4(CSF2RA):c.330T>C (p.Leu110=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003510361]likely benignX12886291288629Human1name , alternate_id
402515701CV2923493single nucleotide variantNM_172245.4(CSF2RA):c.330T>C (p.Leu110=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003510361]likely benignY12886291288629Human1name , alternate_id
402515853CV2932869single nucleotide variantNM_172245.4(CSF2RA):c.480G>A (p.Arg160=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003510374]likely benignX12903431290343Human1name , alternate_id
402515853CV2932869single nucleotide variantNM_172245.4(CSF2RA):c.480G>A (p.Arg160=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003510374]likely benignY12903431290343Human1name , alternate_id
405168383CV2949141single nucleotide variantNM_172245.4(CSF2RA):c.555A>G (p.Gly185=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003621878]likely benignX12904181290418Human1name , alternate_id
405168383CV2949141single nucleotide variantNM_172245.4(CSF2RA):c.555A>G (p.Gly185=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003621878]likely benignY12904181290418Human1name , alternate_id
402464713CV2956444single nucleotide variantNM_172245.4(CSF2RA):c.97G>C (p.Ala33Pro)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622477]uncertain significanceX12857981285798Human1name , alternate_id
402464713CV2956444single nucleotide variantNM_172245.4(CSF2RA):c.97G>C (p.Ala33Pro)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622477]uncertain significanceY12857981285798Human1name , alternate_id
402465475CV2970127single nucleotide variantNM_172245.4(CSF2RA):c.537C>T (p.His179=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622659]likely benignX12904001290400Human1name , alternate_id
402465475CV2970127single nucleotide variantNM_172245.4(CSF2RA):c.537C>T (p.His179=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622659]likely benignY12904001290400Human1name , alternate_id
402467665CV3013270single nucleotide variantNM_172245.4(CSF2RA):c.531A>T (p.Gly177=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623236]likely benignX12903941290394Human1name , alternate_id
402467665CV3013270single nucleotide variantNM_172245.4(CSF2RA):c.531A>T (p.Gly177=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623236]likely benignY12903941290394Human1name , alternate_id
402469601CV3050821single nucleotide variantNM_172245.4(CSF2RA):c.726C>A (p.Thr242=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623754]likely benignX12944071294407Human1name , alternate_id
402469601CV3050821single nucleotide variantNM_172245.4(CSF2RA):c.726C>A (p.Thr242=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623754]likely benignY12944071294407Human1name , alternate_id
405225915CV3142441single nucleotide variantNM_172245.4(CSF2RA):c.74C>T (p.Ser25Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003847980]uncertain significanceX12827771282777Human1name , alternate_id
405225915CV3142441single nucleotide variantNM_172245.4(CSF2RA):c.74C>T (p.Ser25Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003847980]uncertain significanceY12827771282777Human1name , alternate_id
405189852CV3156692single nucleotide variantNM_172245.4(CSF2RA):c.744C>T (p.Tyr248=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003859570]likely benignX12944251294425Human1name , alternate_id
405189852CV3156692single nucleotide variantNM_172245.4(CSF2RA):c.744C>T (p.Tyr248=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003859570]likely benignY12944251294425Human1name , alternate_id
404993944CV3176504single nucleotide variantNM_172245.4(CSF2RA):c.360T>C (p.Ala120=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003881936]likely benignX12887751288775Human1name , alternate_id
404993944CV3176504single nucleotide variantNM_172245.4(CSF2RA):c.360T>C (p.Ala120=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003881936]likely benignY12887751288775Human1name , alternate_id
597896468CV3740406single nucleotide variantNM_172245.4(CSF2RA):c.828T>C (p.Asp276=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005071759]likely benignX13005081300508Human1name , alternate_id
597896468CV3740406single nucleotide variantNM_172245.4(CSF2RA):c.828T>C (p.Asp276=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005071759]likely benignY13005081300508Human1name , alternate_id
597852947CV3743452single nucleotide variantNM_172245.4(CSF2RA):c.984T>C (p.Tyr328=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005060802]likely benignX13039601303960Human1name , alternate_id
597852947CV3743452single nucleotide variantNM_172245.4(CSF2RA):c.984T>C (p.Tyr328=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005060802]likely benignY13039601303960Human1name , alternate_id
597852375CV3758566single nucleotide variantNM_172245.4(CSF2RA):c.432C>T (p.Ala144=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005088125]likely benignX12888471288847Human1name , alternate_id
597852375CV3758566single nucleotide variantNM_172245.4(CSF2RA):c.432C>T (p.Ala144=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005088125]likely benignY12888471288847Human1name , alternate_id
597905498CV3772932single nucleotide variantNM_172245.4(CSF2RA):c.444C>T (p.Val148=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005112997]likely benignX12888591288859Human1name , alternate_id
597905498CV3772932single nucleotide variantNM_172245.4(CSF2RA):c.444C>T (p.Val148=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005112997]likely benignY12888591288859Human1name , alternate_id
597947569CV3817845single nucleotide variantNM_172245.4(CSF2RA):c.792T>G (p.Pro264=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005160312]likely benignY12954381295438Human1name , alternate_id
597947569CV3817845single nucleotide variantNM_172245.4(CSF2RA):c.792T>G (p.Pro264=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005160312]likely benignX12954381295438Human1name , alternate_id
597965959CV3823650deletionNM_172245.4(CSF2RA):c.221del (p.Leu74fs)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005165070]pathogenicX12885201288520Human1name , alternate_id
597965959CV3823650deletionNM_172245.4(CSF2RA):c.221del (p.Leu74fs)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005165070]pathogenicY12885201288520Human1name , alternate_id
597895345CV3853901single nucleotide variantNM_172245.4(CSF2RA):c.879T>C (p.Ser293=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005201184]likely benignY13005591300559Human1name , alternate_id
597895345CV3853901single nucleotide variantNM_172245.4(CSF2RA):c.879T>C (p.Ser293=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005201184]likely benignX13005591300559Human1name , alternate_id
13618724CV535218single nucleotide variantNM_172245.4(CSF2RA):c.972T>G (p.Ser324=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001424734]likely benignX13039481303948Human1name , alternate_id
13618724CV535218single nucleotide variantNM_172245.4(CSF2RA):c.972T>G (p.Ser324=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001424734]likely benignY13039481303948Human1name , alternate_id
13618597CV535219single nucleotide variantNM_172245.4(CSF2RA):c.540G>A (p.Leu180=)CSF2RA-related disorder [RCV003892463]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646174]benign|likely benignY12904031290403Human1name , trait , alternate_id
13618597CV535219single nucleotide variantNM_172245.4(CSF2RA):c.540G>A (p.Leu180=)CSF2RA-related disorder [RCV003892463]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646174]benign|likely benignX12904031290403Human1name , trait , alternate_id
13618600CV535220single nucleotide variantNM_172245.4(CSF2RA):c.996C>T (p.Ile332=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646175]likely benignX13039721303972Human1name , alternate_id
13618600CV535220single nucleotide variantNM_172245.4(CSF2RA):c.996C>T (p.Ile332=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646175]likely benignY13039721303972Human1name , alternate_id
14736488CV650287single nucleotide variantNM_172245.4(CSF2RA):c.69G>T (p.Glu23Asp)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000803630]uncertain significanceY12827721282772Human1name , alternate_id
14736488CV650287single nucleotide variantNM_172245.4(CSF2RA):c.69G>T (p.Glu23Asp)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000803630]uncertain significanceX12827721282772Human1name , alternate_id
15142629CV717883single nucleotide variantNM_172245.4(CSF2RA):c.441C>T (p.Asp147=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000966523]likely benignX12888561288856Human1name , alternate_id
15142629CV717883single nucleotide variantNM_172245.4(CSF2RA):c.441C>T (p.Asp147=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000966523]likely benignY12888561288856Human1name , alternate_id
15195074CV729746single nucleotide variantNM_172245.4(CSF2RA):c.987G>C (p.Val329=)CSF2RA-related disorder [RCV003895445]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000889400]|not provided [RCV004704273]likely benignX13039631303963Human1name , trait , alternate_id
15195074CV729746single nucleotide variantNM_172245.4(CSF2RA):c.987G>C (p.Val329=)CSF2RA-related disorder [RCV003895445]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000889400]|not provided [RCV004704273]likely benignY13039631303963Human1name , trait , alternate_id
15186592CV743507single nucleotide variantNM_172245.4(CSF2RA):c.966C>T (p.Leu322=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000908849]likely benignX13039421303942Human1name , alternate_id
15186592CV743507single nucleotide variantNM_172245.4(CSF2RA):c.966C>T (p.Leu322=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000908849]likely benignY13039421303942Human1name , alternate_id
15124530CV774278single nucleotide variantNM_172245.4(CSF2RA):c.357C>T (p.Thr119=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001414480]likely benignX12887721288772Human1name , alternate_id
15124530CV774278single nucleotide variantNM_172245.4(CSF2RA):c.357C>T (p.Thr119=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001414480]likely benignY12887721288772Human1name , alternate_id
15116029CV774279single nucleotide variantNM_172245.4(CSF2RA):c.429G>A (p.Thr143=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001443139]likely benignY12888441288844Human1name , alternate_id
15116029CV774279single nucleotide variantNM_172245.4(CSF2RA):c.429G>A (p.Thr143=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001443139]likely benignX12888441288844Human1name , alternate_id
15107910CV774280single nucleotide variantNM_172245.4(CSF2RA):c.675C>T (p.Thr225=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002544535]likely benignX12943561294356Human1name , alternate_id
15107910CV774280single nucleotide variantNM_172245.4(CSF2RA):c.675C>T (p.Thr225=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002544535]likely benignY12943561294356Human1name , alternate_id
15176967CV774281single nucleotide variantNM_172245.4(CSF2RA):c.681T>C (p.Arg227=)CSF2RA-related disorder [RCV003895649]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000929044]|not specified [RCV001194227]benign|likely benignX12943621294362Human1name , trait , alternate_id
15176967CV774281single nucleotide variantNM_172245.4(CSF2RA):c.681T>C (p.Arg227=)CSF2RA-related disorder [RCV003895649]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000929044]|not specified [RCV001194227]benign|likely benignY12943621294362Human1name , trait , alternate_id
26888493CV850350single nucleotide variantNM_172245.4(CSF2RA):c.83G>A (p.Arg28Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001067117]uncertain significanceX12857841285784Human1name , alternate_id
26888493CV850350single nucleotide variantNM_172245.4(CSF2RA):c.83G>A (p.Arg28Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001067117]uncertain significanceY12857841285784Human1name , alternate_id
38499610CV959380single nucleotide variantNM_172245.4(CSF2RA):c.83G>C (p.Arg28Pro)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001244855]uncertain significanceX12857841285784Human1name , alternate_id
38499610CV959380single nucleotide variantNM_172245.4(CSF2RA):c.83G>C (p.Arg28Pro)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001244855]uncertain significanceY12857841285784Human1name , alternate_id
126922030CV1052567single nucleotide variantNM_172245.4(CSF2RA):c.101C>G (p.Ser34Cys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001364184]uncertain significanceX12858021285802Human1name , alternate_id
126922030CV1052567single nucleotide variantNM_172245.4(CSF2RA):c.101C>G (p.Ser34Cys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001364184]uncertain significanceY12858021285802Human1name , alternate_id
127266389CV1065545deletionNM_172245.4(CSF2RA):c.547del (p.Leu183fs)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001388704]pathogenicX12904091290409Human1name , alternate_id
127266389CV1065545deletionNM_172245.4(CSF2RA):c.547del (p.Leu183fs)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001388704]pathogenicY12904091290409Human1name , alternate_id
127251763CV1086959single nucleotide variantNM_172245.4(CSF2RA):c.1026C>T (p.Leu342=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001400187]|not provided [RCV004704527]likely benignX13040021304002Human1name , alternate_id
127251763CV1086959single nucleotide variantNM_172245.4(CSF2RA):c.1026C>T (p.Leu342=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001400187]|not provided [RCV004704527]likely benignY13040021304002Human1name , alternate_id
127245906CV1108663single nucleotide variantNM_172245.4(CSF2RA):c.1056A>T (p.Ile352=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001424425]likely benignX13054581305458Human1name , alternate_id
127245906CV1108663single nucleotide variantNM_172245.4(CSF2RA):c.1056A>T (p.Ile352=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001424425]likely benignY13054581305458Human1name , alternate_id
127268728CV1108664single nucleotide variantNM_172245.4(CSF2RA):c.1071G>T (p.Pro357=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001440879]likely benignX13054731305473Human1name , alternate_id
127268728CV1108664single nucleotide variantNM_172245.4(CSF2RA):c.1071G>T (p.Pro357=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001440879]likely benignY13054731305473Human1name , alternate_id
127274206CV1108665single nucleotide variantNM_172245.4(CSF2RA):c.1116G>A (p.Val372=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001442832]likely benignX13055181305518Human1name , alternate_id
127274206CV1108665single nucleotide variantNM_172245.4(CSF2RA):c.1116G>A (p.Val372=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001442832]likely benignY13055181305518Human1name , alternate_id
151866711CV1342263single nucleotide variantNM_172245.4(CSF2RA):c.250C>T (p.Arg84Cys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001997823]uncertain significanceX12885491288549Human1name , alternate_id
151866711CV1342263single nucleotide variantNM_172245.4(CSF2RA):c.250C>T (p.Arg84Cys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001997823]uncertain significanceY12885491288549Human1name , alternate_id
151867355CV1435864single nucleotide variantNM_172245.4(CSF2RA):c.239C>T (p.Ser80Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001997896]uncertain significanceX12885381288538Human1name , alternate_id
151867355CV1435864single nucleotide variantNM_172245.4(CSF2RA):c.239C>T (p.Ser80Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001997896]uncertain significanceY12885381288538Human1name , alternate_id
151775865CV1463720single nucleotide variantNM_172245.4(CSF2RA):c.104G>A (p.Ser35Asn)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001896785]uncertain significanceX12858051285805Human1name , alternate_id
151775865CV1463720single nucleotide variantNM_172245.4(CSF2RA):c.104G>A (p.Ser35Asn)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001896785]uncertain significanceY12858051285805Human1name , alternate_id
152087068CV1578265single nucleotide variantNM_172245.4(CSF2RA):c.1185C>T (p.Thr395=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002171315]likely benignX13094611309461Human1name , alternate_id
152087068CV1578265single nucleotide variantNM_172245.4(CSF2RA):c.1185C>T (p.Thr395=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002171315]likely benignY13094611309461Human1name , alternate_id
152072988CV1657347single nucleotide variantNM_172245.4(CSF2RA):c.1020C>T (p.Ile340=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002210226]likely benignX13039961303996Human1name , alternate_id
152072988CV1657347single nucleotide variantNM_172245.4(CSF2RA):c.1020C>T (p.Ile340=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002210226]likely benignY13039961303996Human1name , alternate_id
156412137CV1890358single nucleotide variantNM_172245.4(CSF2RA):c.266A>G (p.His89Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003072770]uncertain significanceX12885651288565Human1name , alternate_id
156412137CV1890358single nucleotide variantNM_172245.4(CSF2RA):c.266A>G (p.His89Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003072770]uncertain significanceY12885651288565Human1name , alternate_id
156404387CV1916541single nucleotide variantNM_172245.4(CSF2RA):c.1128C>A (p.Ile376=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002606082]likely benignX13094041309404Human1name , alternate_id
156404387CV1916541single nucleotide variantNM_172245.4(CSF2RA):c.1128C>A (p.Ile376=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002606082]likely benignY13094041309404Human1name , alternate_id
156405630CV1919426single nucleotide variantNM_172245.4(CSF2RA):c.1110T>C (p.His370=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002585692]likely benignX13055121305512Human1name , alternate_id
156405630CV1919426single nucleotide variantNM_172245.4(CSF2RA):c.1110T>C (p.His370=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002585692]likely benignY13055121305512Human1name , alternate_id
405167718CV2948576duplicationNM_172245.4(CSF2RA):c.669dup (p.Val224fs)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003621841]pathogenicX12943491294350Human1name , alternate_id
405167718CV2948576duplicationNM_172245.4(CSF2RA):c.669dup (p.Val224fs)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003621841]pathogenicY12943491294350Human1name , alternate_id
402465026CV2974091single nucleotide variantNM_172245.4(CSF2RA):c.147G>A (p.Trp49Ter)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622520]pathogenicX12858481285848Human1name , alternate_id
402465026CV2974091single nucleotide variantNM_172245.4(CSF2RA):c.147G>A (p.Trp49Ter)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622520]pathogenicY12858481285848Human1name , alternate_id
402465568CV2980753deletionNM_172245.4(CSF2RA):c.865del (p.Arg289fs)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622684]pathogenicX13005451300545Human1name , alternate_id
402465568CV2980753deletionNM_172245.4(CSF2RA):c.865del (p.Arg289fs)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622684]pathogenicY13005451300545Human1name , alternate_id
405041347CV3141136single nucleotide variantNM_172245.4(CSF2RA):c.1167C>T (p.Tyr389=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003831429]likely benignX13094431309443Human1name , alternate_id
405041347CV3141136single nucleotide variantNM_172245.4(CSF2RA):c.1167C>T (p.Tyr389=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003831429]likely benignY13094431309443Human1name , alternate_id
405212330CV3173515single nucleotide variantNM_172245.4(CSF2RA):c.161A>G (p.Asn54Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003862264]uncertain significanceX12858621285862Human1name , alternate_id
405212330CV3173515single nucleotide variantNM_172245.4(CSF2RA):c.161A>G (p.Asn54Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003862264]uncertain significanceY12858621285862Human1name , alternate_id
597892848CV3809843single nucleotide variantNM_172245.4(CSF2RA):c.1164C>T (p.Gly388=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005151564]likely benignY13094401309440Human1name , alternate_id
597892848CV3809843single nucleotide variantNM_172245.4(CSF2RA):c.1164C>T (p.Gly388=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005151564]likely benignX13094401309440Human1name , alternate_id
597936818CV3862579single nucleotide variantNM_172245.4(CSF2RA):c.1140A>G (p.Glu380=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005207851]likely benignX13094161309416Human1name , alternate_id
597936818CV3862579single nucleotide variantNM_172245.4(CSF2RA):c.1140A>G (p.Glu380=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005207851]likely benignY13094161309416Human1name , alternate_id
13466825CV472233single nucleotide variantNM_172245.4(CSF2RA):c.223A>G (p.Ser75Gly)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000552721]|not provided [RCV001584307]|not specified [RCV000616558]benign|likely benignX12885221288522Human1name , alternate_id
13466825CV472233single nucleotide variantNM_172245.4(CSF2RA):c.223A>G (p.Ser75Gly)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000552721]|not provided [RCV001584307]|not specified [RCV000616558]benign|likely benignY12885221288522Human1name , alternate_id
13618603CV535221single nucleotide variantNM_172245.4(CSF2RA):c.1071G>A (p.Pro357=)CSF2RA-related disorder [RCV003905748]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646177]|not provided [RCV004714106]benignX13054731305473Human1name , trait , alternate_id
13618603CV535221single nucleotide variantNM_172245.4(CSF2RA):c.1071G>A (p.Pro357=)CSF2RA-related disorder [RCV003905748]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646177]|not provided [RCV004714106]benignY13054731305473Human1name , trait , alternate_id
13819993CV575469single nucleotide variantNM_172245.4(CSF2RA):c.191A>G (p.Asp64Gly)CSF2RA-related disorder [RCV003892550]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000694681]|not provided [RCV003227831]likely benign|uncertain significanceX12858921285892Human1name , trait , alternate_id
13819993CV575469single nucleotide variantNM_172245.4(CSF2RA):c.191A>G (p.Asp64Gly)CSF2RA-related disorder [RCV003892550]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000694681]|not provided [RCV003227831]likely benign|uncertain significanceY12858921285892Human1name , trait , alternate_id
14697953CV623389single nucleotide variantNM_172245.4(CSF2RA):c.281T>C (p.Phe94Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000787037]uncertain significanceY12885801288580Human1name , alternate_id
14697953CV623389single nucleotide variantNM_172245.4(CSF2RA):c.281T>C (p.Phe94Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000787037]uncertain significanceX12885801288580Human1name , alternate_id
14698968CV624728single nucleotide variantNM_172245.4(CSF2RA):c.167C>A (p.Thr56Asn)not provided [RCV000788140]uncertain significanceX12858681285868Humanname
14698968CV624728single nucleotide variantNM_172245.4(CSF2RA):c.167C>A (p.Thr56Asn)not provided [RCV000788140]uncertain significanceY12858681285868Humanname
14725053CV650288single nucleotide variantNM_172245.4(CSF2RA):c.163A>G (p.Thr55Ala)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000798653]uncertain significanceY12858641285864Human1name , alternate_id
14725053CV650288single nucleotide variantNM_172245.4(CSF2RA):c.163A>G (p.Thr55Ala)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000798653]uncertain significanceX12858641285864Human1name , alternate_id
14715047CV650289single nucleotide variantNM_172245.4(CSF2RA):c.232G>A (p.Glu78Lys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000794635]uncertain significanceY12885311288531Human1name , alternate_id
14715047CV650289single nucleotide variantNM_172245.4(CSF2RA):c.232G>A (p.Glu78Lys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000794635]uncertain significanceX12885311288531Human1name , alternate_id
14719665CV650290single nucleotide variantNM_172245.4(CSF2RA):c.251G>A (p.Arg84His)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000796307]|not provided [RCV004597874]likely benign|uncertain significanceY12885501288550Human1name , alternate_id
14719665CV650290single nucleotide variantNM_172245.4(CSF2RA):c.251G>A (p.Arg84His)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000796307]|not provided [RCV004597874]likely benign|uncertain significanceX12885501288550Human1name , alternate_id
15110040CV729747single nucleotide variantNM_172245.4(CSF2RA):c.1122C>T (p.Asp374=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000893981]likely benignX13055241305524Human1name , alternate_id
15110040CV729747single nucleotide variantNM_172245.4(CSF2RA):c.1122C>T (p.Asp374=)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000893981]likely benignY13055241305524Human1name , alternate_id
26905166CV850351single nucleotide variantNM_172245.4(CSF2RA):c.137A>G (p.Asn46Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001036890]uncertain significanceX12858381285838Human1name , alternate_id
26905166CV850351single nucleotide variantNM_172245.4(CSF2RA):c.137A>G (p.Asn46Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001036890]uncertain significanceY12858381285838Human1name , alternate_id
26906293CV850352single nucleotide variantNM_172245.4(CSF2RA):c.242G>A (p.Cys81Tyr)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001037382]uncertain significanceX12885411288541Human1name , alternate_id
26906293CV850352single nucleotide variantNM_172245.4(CSF2RA):c.242G>A (p.Cys81Tyr)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001037382]uncertain significanceY12885411288541Human1name , alternate_id
38472016CV951915single nucleotide variantNM_172245.4(CSF2RA):c.144C>G (p.Ser48Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001231372]uncertain significanceX12858451285845Human1name , alternate_id
38472016CV951915single nucleotide variantNM_172245.4(CSF2RA):c.144C>G (p.Ser48Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001231372]uncertain significanceY12858451285845Human1name , alternate_id
38474256CV951916single nucleotide variantNM_172245.4(CSF2RA):c.208G>A (p.Val70Met)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001232135]uncertain significanceX12859091285909Human1name , alternate_id
38474256CV951916single nucleotide variantNM_172245.4(CSF2RA):c.208G>A (p.Val70Met)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001232135]uncertain significanceY12859091285909Human1name , alternate_id
38467191CV959381single nucleotide variantNM_172245.4(CSF2RA):c.131C>T (p.Thr44Met)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001247802]uncertain significanceX12858321285832Human1name , alternate_id
38467191CV959381single nucleotide variantNM_172245.4(CSF2RA):c.131C>T (p.Thr44Met)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001247802]uncertain significanceY12858321285832Human1name , alternate_id
126733299CV1001297single nucleotide variantNM_172245.4(CSF2RA):c.689C>T (p.Thr230Met)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003106190]|not provided [RCV001311050]likely benign|uncertain significanceX12943701294370Human1name , alternate_id
126733299CV1001297single nucleotide variantNM_172245.4(CSF2RA):c.689C>T (p.Thr230Met)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003106190]|not provided [RCV001311050]likely benign|uncertain significanceY12943701294370Human1name , alternate_id
126771734CV1015101single nucleotide variantNM_172245.4(CSF2RA):c.566G>A (p.Arg189His)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001323327]uncertain significanceX12904291290429Human1name , alternate_id
126771734CV1015101single nucleotide variantNM_172245.4(CSF2RA):c.566G>A (p.Arg189His)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001323327]uncertain significanceY12904291290429Human1name , alternate_id
126737781CV1022202single nucleotide variantNM_172245.4(CSF2RA):c.926G>A (p.Trp309Ter)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001335381]pathogenicX13006061300606Humanname , alternate_id
126737781CV1022202single nucleotide variantNM_172245.4(CSF2RA):c.926G>A (p.Trp309Ter)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001335381]pathogenicY13006061300606Humanname , alternate_id
126909528CV1036753single nucleotide variantNM_172245.4(CSF2RA):c.335C>G (p.Pro112Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001353248]uncertain significanceX12886341288634Human1name , alternate_id
126909528CV1036753single nucleotide variantNM_172245.4(CSF2RA):c.335C>G (p.Pro112Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001353248]uncertain significanceY12886341288634Human1name , alternate_id
126921344CV1052568single nucleotide variantNM_172245.4(CSF2RA):c.615C>A (p.Phe205Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001374339]uncertain significanceX12904781290478Human1name , alternate_id
126921344CV1052568single nucleotide variantNM_172245.4(CSF2RA):c.615C>A (p.Phe205Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001374339]uncertain significanceY12904781290478Human1name , alternate_id
126912029CV1052569single nucleotide variantNM_172245.4(CSF2RA):c.707G>A (p.Arg236Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001369522]uncertain significanceX12943881294388Human1name , alternate_id
126912029CV1052569single nucleotide variantNM_172245.4(CSF2RA):c.707G>A (p.Arg236Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001369522]uncertain significanceY12943881294388Human1name , alternate_id
126912764CV1052570single nucleotide variantNM_172245.4(CSF2RA):c.719C>T (p.Pro240Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001358932]uncertain significanceX12944001294400Human1name , alternate_id
126912764CV1052570single nucleotide variantNM_172245.4(CSF2RA):c.719C>T (p.Pro240Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001358932]uncertain significanceY12944001294400Human1name , alternate_id
126923614CV1052571single nucleotide variantNM_172245.4(CSF2RA):c.794G>C (p.Gly265Ala)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001366043]uncertain significanceX12954401295440Human1name , alternate_id
126923614CV1052571single nucleotide variantNM_172245.4(CSF2RA):c.794G>C (p.Gly265Ala)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001366043]uncertain significanceY12954401295440Human1name , alternate_id
151831184CV1355898single nucleotide variantNM_172245.4(CSF2RA):c.366G>C (p.Gln122His)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002030821]uncertain significanceX12887811288781Human1name , alternate_id
151831184CV1355898single nucleotide variantNM_172245.4(CSF2RA):c.366G>C (p.Gln122His)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002030821]uncertain significanceY12887811288781Human1name , alternate_id
151713112CV1383839single nucleotide variantNM_172245.4(CSF2RA):c.766G>A (p.Asp256Asn)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001908411]uncertain significanceX12944471294447Human1name , alternate_id
151713112CV1383839single nucleotide variantNM_172245.4(CSF2RA):c.766G>A (p.Asp256Asn)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001908411]uncertain significanceY12944471294447Human1name , alternate_id
151826662CV1396227single nucleotide variantNM_172245.4(CSF2RA):c.787C>T (p.Gln263Ter)CSF2RA-related disorder [RCV003394301]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001934649]pathogenic|likely pathogenicX12954331295433Human1name , trait , alternate_id
151826662CV1396227single nucleotide variantNM_172245.4(CSF2RA):c.787C>T (p.Gln263Ter)CSF2RA-related disorder [RCV003394301]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001934649]pathogenic|likely pathogenicY12954331295433Human1name , trait , alternate_id
151742851CV1405098single nucleotide variantNM_172245.4(CSF2RA):c.416C>G (p.Ala139Gly)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001947270]uncertain significanceX12888311288831Human1name , alternate_id
151742851CV1405098single nucleotide variantNM_172245.4(CSF2RA):c.416C>G (p.Ala139Gly)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001947270]uncertain significanceY12888311288831Human1name , alternate_id
151742235CV1409360single nucleotide variantNM_172245.4(CSF2RA):c.872A>G (p.Lys291Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001893378]uncertain significanceX13005521300552Human1name , alternate_id
151742235CV1409360single nucleotide variantNM_172245.4(CSF2RA):c.872A>G (p.Lys291Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001893378]uncertain significanceY13005521300552Human1name , alternate_id
151769370CV1409692single nucleotide variantNM_172245.4(CSF2RA):c.679C>T (p.Arg227Cys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001896178]uncertain significanceX12943601294360Human1name , alternate_id
151769370CV1409692single nucleotide variantNM_172245.4(CSF2RA):c.679C>T (p.Arg227Cys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001896178]uncertain significanceY12943601294360Human1name , alternate_id
151726297CV1415995single nucleotide variantNM_172245.4(CSF2RA):c.797C>T (p.Thr266Met)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001945565]uncertain significanceX12954431295443Human1name , alternate_id
151726297CV1415995single nucleotide variantNM_172245.4(CSF2RA):c.797C>T (p.Thr266Met)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001945565]uncertain significanceY12954431295443Human1name , alternate_id
151808248CV1417849single nucleotide variantNM_172245.4(CSF2RA):c.416C>T (p.Ala139Val)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001867754]uncertain significanceX12888311288831Human1name , alternate_id
151808248CV1417849single nucleotide variantNM_172245.4(CSF2RA):c.416C>T (p.Ala139Val)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001867754]uncertain significanceY12888311288831Human1name , alternate_id
151879126CV1419223single nucleotide variantNM_172245.4(CSF2RA):c.917G>A (p.Trp306Ter)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001982285]pathogenicX13005971300597Human1name , alternate_id
151879126CV1419223single nucleotide variantNM_172245.4(CSF2RA):c.917G>A (p.Trp306Ter)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001982285]pathogenicY13005971300597Human1name , alternate_id
151846669CV1423884single nucleotide variantNM_172245.4(CSF2RA):c.425C>A (p.Pro142Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001995424]uncertain significanceX12888401288840Human1name , alternate_id
151846669CV1423884single nucleotide variantNM_172245.4(CSF2RA):c.425C>A (p.Pro142Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001995424]uncertain significanceY12888401288840Human1name , alternate_id
151824447CV1424935single nucleotide variantNM_172245.4(CSF2RA):c.938T>A (p.Ile313Asn)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001901197]uncertain significanceX13006181300618Human1name , alternate_id
151824447CV1424935single nucleotide variantNM_172245.4(CSF2RA):c.938T>A (p.Ile313Asn)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001901197]uncertain significanceY13006181300618Human1name , alternate_id
151723924CV1425223single nucleotide variantNM_172245.4(CSF2RA):c.703G>T (p.Val235Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001891481]uncertain significanceX12943841294384Human1name , alternate_id
151723924CV1425223single nucleotide variantNM_172245.4(CSF2RA):c.703G>T (p.Val235Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001891481]uncertain significanceY12943841294384Human1name , alternate_id
151867607CV1429520single nucleotide variantNM_172245.4(CSF2RA):c.414G>A (p.Trp138Ter)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002035251]pathogenicX12888291288829Human1name , alternate_id
151867607CV1429520single nucleotide variantNM_172245.4(CSF2RA):c.414G>A (p.Trp138Ter)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002035251]pathogenicY12888291288829Human1name , alternate_id
151743809CV1431799single nucleotide variantNM_172245.4(CSF2RA):c.700C>A (p.Leu234Ile)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001926737]uncertain significanceX12943811294381Human1name , alternate_id
151743809CV1431799single nucleotide variantNM_172245.4(CSF2RA):c.700C>A (p.Leu234Ile)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001926737]uncertain significanceY12943811294381Human1name , alternate_id
151848208CV1433488single nucleotide variantNM_172245.4(CSF2RA):c.502T>A (p.Tyr168Asn)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001978576]uncertain significanceX12903651290365Human1name , alternate_id
151848208CV1433488single nucleotide variantNM_172245.4(CSF2RA):c.502T>A (p.Tyr168Asn)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001978576]uncertain significanceY12903651290365Human1name , alternate_id
151791372CV1436242single nucleotide variantNM_172245.4(CSF2RA):c.877A>C (p.Ser293Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001990110]uncertain significanceX13005571300557Human1name , alternate_id
151791372CV1436242single nucleotide variantNM_172245.4(CSF2RA):c.877A>C (p.Ser293Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001990110]uncertain significanceY13005571300557Human1name , alternate_id
151860701CV1438564single nucleotide variantNM_172245.4(CSF2RA):c.680G>A (p.Arg227His)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001923957]uncertain significanceX12943611294361Human1name , alternate_id
151860701CV1438564single nucleotide variantNM_172245.4(CSF2RA):c.680G>A (p.Arg227His)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001923957]uncertain significanceY12943611294361Human1name , alternate_id
151792943CV1446985single nucleotide variantNM_172245.4(CSF2RA):c.536A>G (p.His179Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001876679]uncertain significanceX12903991290399Human1name , alternate_id
151792943CV1446985single nucleotide variantNM_172245.4(CSF2RA):c.536A>G (p.His179Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001876679]uncertain significanceY12903991290399Human1name , alternate_id
151827266CV1447352single nucleotide variantNM_172245.4(CSF2RA):c.592A>G (p.Ser198Gly)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001870181]uncertain significanceX12904551290455Human1name , alternate_id
151827266CV1447352single nucleotide variantNM_172245.4(CSF2RA):c.592A>G (p.Ser198Gly)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001870181]uncertain significanceY12904551290455Human1name , alternate_id
151775480CV1450411single nucleotide variantNM_172245.4(CSF2RA):c.901G>T (p.Val301Phe)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001915391]uncertain significanceX13005811300581Human1name , alternate_id
151775480CV1450411single nucleotide variantNM_172245.4(CSF2RA):c.901G>T (p.Val301Phe)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001915391]uncertain significanceY13005811300581Human1name , alternate_id
151874038CV1470328single nucleotide variantNM_172245.4(CSF2RA):c.617T>C (p.Phe206Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001885635]uncertain significanceX12904801290480Human1name , alternate_id
151874038CV1470328single nucleotide variantNM_172245.4(CSF2RA):c.617T>C (p.Phe206Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001885635]uncertain significanceY12904801290480Human1name , alternate_id
151827196CV1471939single nucleotide variantNM_172245.4(CSF2RA):c.599A>T (p.Glu200Val)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002030446]uncertain significanceX12904621290462Human1name , alternate_id
151827196CV1471939single nucleotide variantNM_172245.4(CSF2RA):c.599A>T (p.Glu200Val)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002030446]uncertain significanceY12904621290462Human1name , alternate_id
151740676CV1475031single nucleotide variantNM_172245.4(CSF2RA):c.703G>A (p.Val235Ile)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001968117]uncertain significanceX12943841294384Human1name , alternate_id
151740676CV1475031single nucleotide variantNM_172245.4(CSF2RA):c.703G>A (p.Val235Ile)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001968117]uncertain significanceY12943841294384Human1name , alternate_id
151863219CV1498462single nucleotide variantNM_172245.4(CSF2RA):c.461T>C (p.Ile154Thr)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001980397]uncertain significanceX12888761288876Human1name , alternate_id
151863219CV1498462single nucleotide variantNM_172245.4(CSF2RA):c.461T>C (p.Ile154Thr)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001980397]uncertain significanceY12888761288876Human1name , alternate_id
152982830CV1677692single nucleotide variantNM_172245.4(CSF2RA):c.649C>T (p.Arg217Ter)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002249845]pathogenicX12943301294330Human1name , alternate_id
152982830CV1677692single nucleotide variantNM_172245.4(CSF2RA):c.649C>T (p.Arg217Ter)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002249845]pathogenicY12943301294330Human1name , alternate_id
155715193CV1774099single nucleotide variantNM_172245.4(CSF2RA):c.356C>G (p.Thr119Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002296382]uncertain significanceX12887711288771Human1name , alternate_id
155715193CV1774099single nucleotide variantNM_172245.4(CSF2RA):c.356C>G (p.Thr119Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002296382]uncertain significanceY12887711288771Human1name , alternate_id
155714520CV1776008single nucleotide variantNM_172245.4(CSF2RA):c.414G>T (p.Trp138Cys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002296342]uncertain significanceX12888291288829Human1name , alternate_id
155714520CV1776008single nucleotide variantNM_172245.4(CSF2RA):c.414G>T (p.Trp138Cys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002296342]uncertain significanceY12888291288829Human1name , alternate_id
9693574CV178250single nucleotide variantNM_172245.4(CSF2RA):c.425C>T (p.Pro142Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000545726]|not provided [RCV001551063]|not specified [RCV000155475]benign|likely benignX12888401288840Human1name , alternate_id
9693574CV178250single nucleotide variantNM_172245.4(CSF2RA):c.425C>T (p.Pro142Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000545726]|not provided [RCV001551063]|not specified [RCV000155475]benign|likely benignY12888401288840Human1name , alternate_id
156001122CV1872864single nucleotide variantNM_172245.4(CSF2RA):c.677T>C (p.Val226Ala)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003076590]uncertain significanceX12943581294358Human1name , alternate_id
156001122CV1872864single nucleotide variantNM_172245.4(CSF2RA):c.677T>C (p.Val226Ala)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003076590]uncertain significanceY12943581294358Human1name , alternate_id
156335583CV1905979single nucleotide variantNM_172245.4(CSF2RA):c.590C>G (p.Thr197Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003090046]uncertain significanceX12904531290453Human1name , alternate_id
156335583CV1905979single nucleotide variantNM_172245.4(CSF2RA):c.590C>G (p.Thr197Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003090046]uncertain significanceY12904531290453Human1name , alternate_id
156017791CV1909214single nucleotide variantNM_172245.4(CSF2RA):c.933A>C (p.Glu311Asp)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002619235]uncertain significanceX13006131300613Human1name , alternate_id
156017791CV1909214single nucleotide variantNM_172245.4(CSF2RA):c.933A>C (p.Glu311Asp)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002619235]uncertain significanceY13006131300613Human1name , alternate_id
156377874CV1930695single nucleotide variantNM_172245.4(CSF2RA):c.650G>A (p.Arg217Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002634004]uncertain significanceX12943311294331Human1name , alternate_id
156377874CV1930695single nucleotide variantNM_172245.4(CSF2RA):c.650G>A (p.Arg217Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002634004]uncertain significanceY12943311294331Human1name , alternate_id
156446653CV1948001single nucleotide variantNM_172245.4(CSF2RA):c.370T>G (p.Phe124Val)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003118165]uncertain significanceX12887851288785Human1name , alternate_id
156446653CV1948001single nucleotide variantNM_172245.4(CSF2RA):c.370T>G (p.Phe124Val)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003118165]uncertain significanceY12887851288785Human1name , alternate_id
156336961CV1976904single nucleotide variantNM_172245.4(CSF2RA):c.834A>T (p.Glu278Asp)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002601082]uncertain significanceX13005141300514Human1name , alternate_id
156336961CV1976904single nucleotide variantNM_172245.4(CSF2RA):c.834A>T (p.Glu278Asp)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002601082]uncertain significanceY13005141300514Human1name , alternate_id
155920493CV1991228single nucleotide variantNM_172245.4(CSF2RA):c.934G>A (p.Ala312Thr)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002614541]uncertain significanceX13006141300614Human1name , alternate_id
155920493CV1991228single nucleotide variantNM_172245.4(CSF2RA):c.934G>A (p.Ala312Thr)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002614541]uncertain significanceY13006141300614Human1name , alternate_id
156222386CV2005768single nucleotide variantNM_172245.4(CSF2RA):c.497C>T (p.Pro166Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002667275]uncertain significanceX12903601290360Human1name , alternate_id
156222386CV2005768single nucleotide variantNM_172245.4(CSF2RA):c.497C>T (p.Pro166Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002667275]uncertain significanceY12903601290360Human1name , alternate_id
155957379CV2033497single nucleotide variantNM_172245.4(CSF2RA):c.586G>C (p.Gly196Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002731000]likely pathogenicX12904491290449Human1name , alternate_id
155957379CV2033497single nucleotide variantNM_172245.4(CSF2RA):c.586G>C (p.Gly196Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002731000]likely pathogenicY12904491290449Human1name , alternate_id
156232697CV2039869single nucleotide variantNM_172245.4(CSF2RA):c.893C>T (p.Ala298Val)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002805374]uncertain significanceX13005731300573Human1name , alternate_id
156232697CV2039869single nucleotide variantNM_172245.4(CSF2RA):c.893C>T (p.Ala298Val)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002805374]uncertain significanceY13005731300573Human1name , alternate_id
155990217CV2066766single nucleotide variantNM_172245.4(CSF2RA):c.868G>A (p.Ala290Thr)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002842927]uncertain significanceX13005481300548Human1name , alternate_id
155990217CV2066766single nucleotide variantNM_172245.4(CSF2RA):c.868G>A (p.Ala290Thr)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002842927]uncertain significanceY13005481300548Human1name , alternate_id
156306572CV2066962single nucleotide variantNM_172245.4(CSF2RA):c.689C>G (p.Thr230Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002833885]uncertain significanceX12943701294370Human1name , alternate_id
156306572CV2066962single nucleotide variantNM_172245.4(CSF2RA):c.689C>G (p.Thr230Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002833885]uncertain significanceY12943701294370Human1name , alternate_id
156033518CV2127883single nucleotide variantNM_172245.4(CSF2RA):c.341C>G (p.Ser114Ter)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002923619]pathogenicX12886401288640Human1name , alternate_id
156033518CV2127883single nucleotide variantNM_172245.4(CSF2RA):c.341C>G (p.Ser114Ter)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002923619]pathogenicY12886401288640Human1name , alternate_id
156214221CV2127902single nucleotide variantNM_172245.4(CSF2RA):c.447G>C (p.Gln149His)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002957876]uncertain significanceX12888621288862Human1name , alternate_id
156214221CV2127902single nucleotide variantNM_172245.4(CSF2RA):c.447G>C (p.Gln149His)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002957876]uncertain significanceY12888621288862Human1name , alternate_id
156220471CV2144103single nucleotide variantNM_172245.4(CSF2RA):c.515C>T (p.Ser172Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003007360]uncertain significanceX12903781290378Human1name , alternate_id
156220471CV2144103single nucleotide variantNM_172245.4(CSF2RA):c.515C>T (p.Ser172Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003007360]uncertain significanceY12903781290378Human1name , alternate_id
156155718CV2150783single nucleotide variantNM_172245.4(CSF2RA):c.782A>G (p.Asn261Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003023010]uncertain significanceX12954281295428Human1name , alternate_id
156155718CV2150783single nucleotide variantNM_172245.4(CSF2RA):c.782A>G (p.Asn261Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003023010]uncertain significanceY12954281295428Human1name , alternate_id
156169172CV2190216single nucleotide variantNM_172245.4(CSF2RA):c.802A>G (p.Asn268Asp)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003040976]uncertain significanceX12954481295448Human1name , alternate_id
156169172CV2190216single nucleotide variantNM_172245.4(CSF2RA):c.802A>G (p.Asn268Asp)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003040976]uncertain significanceY12954481295448Human1name , alternate_id
8598492CV25394single nucleotide variantNM_172245.4(CSF2RA):c.586G>A (p.Gly196Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000011068]pathogenicY12904491290449Human1name , alternate_id
8598492CV25394single nucleotide variantNM_172245.4(CSF2RA):c.586G>A (p.Gly196Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000011068]pathogenicX12904491290449Human1name , alternate_id
401856266CV2752405single nucleotide variantNM_172245.4(CSF2RA):c.581T>G (p.Val194Gly)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003340742]uncertain significanceX12904441290444Human1name , alternate_id
401856266CV2752405single nucleotide variantNM_172245.4(CSF2RA):c.581T>G (p.Val194Gly)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003340742]uncertain significanceY12904441290444Human1name , alternate_id
402525092CV2892203single nucleotide variantNM_172245.4(CSF2RA):c.437G>A (p.Arg146His)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003511153]uncertain significanceX12888521288852Human1name , alternate_id
402525092CV2892203single nucleotide variantNM_172245.4(CSF2RA):c.437G>A (p.Arg146His)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003511153]uncertain significanceY12888521288852Human1name , alternate_id
405255632CV3172613single nucleotide variantNM_172245.4(CSF2RA):c.560C>T (p.Thr187Met)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003872551]uncertain significanceX12904231290423Human1name , alternate_id
405255632CV3172613single nucleotide variantNM_172245.4(CSF2RA):c.560C>T (p.Thr187Met)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003872551]uncertain significanceY12904231290423Human1name , alternate_id
597952189CV3795077single nucleotide variantNM_172245.4(CSF2RA):c.402G>T (p.Met134Ile)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005136289]uncertain significanceX12888171288817Human1name , alternate_id
597952189CV3795077single nucleotide variantNM_172245.4(CSF2RA):c.402G>T (p.Met134Ile)Surfactant metabolism dysfunction, pulmonary, 4 [RCV005136289]uncertain significanceY12888171288817Human1name , alternate_id
13468718CV472235single nucleotide variantNM_172245.4(CSF2RA):c.953A>T (p.Asp318Val)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000559632]uncertain significanceX13039291303929Human1name , alternate_id
13468718CV472235single nucleotide variantNM_172245.4(CSF2RA):c.953A>T (p.Asp318Val)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000559632]uncertain significanceY13039291303929Human1name , alternate_id
13618729CV535216single nucleotide variantNM_172245.4(CSF2RA):c.668A>G (p.Asn223Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646169]uncertain significanceX12943491294349Human1name , alternate_id
13618729CV535216single nucleotide variantNM_172245.4(CSF2RA):c.668A>G (p.Asn223Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646169]uncertain significanceY12943491294349Human1name , alternate_id
13618726CV535217single nucleotide variantNM_172245.4(CSF2RA):c.997G>A (p.Val333Met)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646171]|not specified [RCV000825153]likely benignX13039731303973Human1name , alternate_id
13618726CV535217single nucleotide variantNM_172245.4(CSF2RA):c.997G>A (p.Val333Met)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646171]|not specified [RCV000825153]likely benignY13039731303973Human1name , alternate_id
13813048CV575464single nucleotide variantNM_172245.4(CSF2RA):c.706C>T (p.Arg236Trp)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000689875]uncertain significanceX12943871294387Human1name , alternate_id
13813048CV575464single nucleotide variantNM_172245.4(CSF2RA):c.706C>T (p.Arg236Trp)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000689875]uncertain significanceY12943871294387Human1name , alternate_id
13817054CV575467single nucleotide variantNM_172245.4(CSF2RA):c.676G>A (p.Val226Ile)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000692748]|not provided [RCV004692122]uncertain significanceX12943571294357Human1name , alternate_id
13817054CV575467single nucleotide variantNM_172245.4(CSF2RA):c.676G>A (p.Val226Ile)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000692748]|not provided [RCV004692122]uncertain significanceY12943571294357Human1name , alternate_id
13806140CV575471single nucleotide variantNM_172245.4(CSF2RA):c.530G>A (p.Gly177Glu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000700436]uncertain significanceX12903931290393Human1name , alternate_id
13806140CV575471single nucleotide variantNM_172245.4(CSF2RA):c.530G>A (p.Gly177Glu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000700436]uncertain significanceY12903931290393Human1name , alternate_id
13809377CV575472single nucleotide variantNM_172245.4(CSF2RA):c.692C>T (p.Thr231Met)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000702107]uncertain significanceX12943731294373Human1name , alternate_id
13809377CV575472single nucleotide variantNM_172245.4(CSF2RA):c.692C>T (p.Thr231Met)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000702107]uncertain significanceY12943731294373Human1name , alternate_id
14732339CV650291single nucleotide variantNM_172245.4(CSF2RA):c.337A>T (p.Asn113Tyr)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000801802]uncertain significanceY12886361288636Human1name , alternate_id
14732339CV650291single nucleotide variantNM_172245.4(CSF2RA):c.337A>T (p.Asn113Tyr)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000801802]uncertain significanceX12886361288636Human1name , alternate_id
14737790CV650292single nucleotide variantNM_172245.4(CSF2RA):c.352G>T (p.Gly118Cys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000804224]uncertain significanceY12887671288767Human1name , alternate_id
14737790CV650292single nucleotide variantNM_172245.4(CSF2RA):c.352G>T (p.Gly118Cys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000804224]uncertain significanceX12887671288767Human1name , alternate_id
14725356CV650293single nucleotide variantNM_172245.4(CSF2RA):c.490C>T (p.Arg164Trp)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000815162]uncertain significanceY12903531290353Human1name , alternate_id
14725356CV650293single nucleotide variantNM_172245.4(CSF2RA):c.490C>T (p.Arg164Trp)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000815162]uncertain significanceX12903531290353Human1name , alternate_id
14724015CV650294single nucleotide variantNM_172245.4(CSF2RA):c.496C>T (p.Pro166Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000814594]uncertain significanceY12903591290359Human1name , alternate_id
14724015CV650294single nucleotide variantNM_172245.4(CSF2RA):c.496C>T (p.Pro166Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000814594]uncertain significanceX12903591290359Human1name , alternate_id
14720982CV650295single nucleotide variantNM_172245.4(CSF2RA):c.530G>C (p.Gly177Ala)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000796898]|not provided [RCV004584802]likely benign|uncertain significanceY12903931290393Human1name , alternate_id
14720982CV650295single nucleotide variantNM_172245.4(CSF2RA):c.530G>C (p.Gly177Ala)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000796898]|not provided [RCV004584802]likely benign|uncertain significanceX12903931290393Human1name , alternate_id
14722726CV650296single nucleotide variantNM_172245.4(CSF2RA):c.565C>T (p.Arg189Cys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000814044]uncertain significanceY12904281290428Human1name , alternate_id
14722726CV650296single nucleotide variantNM_172245.4(CSF2RA):c.565C>T (p.Arg189Cys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000814044]uncertain significanceX12904281290428Human1name , alternate_id
14721692CV650297single nucleotide variantNM_172245.4(CSF2RA):c.596G>A (p.Arg199Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000797206]uncertain significanceY12904591290459Human1name , alternate_id
14721692CV650297single nucleotide variantNM_172245.4(CSF2RA):c.596G>A (p.Arg199Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000797206]uncertain significanceX12904591290459Human1name , alternate_id
14713985CV650298single nucleotide variantNM_172245.4(CSF2RA):c.912G>C (p.Leu304Phe)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000794269]uncertain significanceY13005921300592Human1name , alternate_id
14713985CV650298single nucleotide variantNM_172245.4(CSF2RA):c.912G>C (p.Leu304Phe)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000794269]uncertain significanceX13005921300592Human1name , alternate_id
15197933CV729745single nucleotide variantNM_172245.4(CSF2RA):c.967G>A (p.Gly323Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000890209]benignX13039431303943Human1name , alternate_id
15197933CV729745single nucleotide variantNM_172245.4(CSF2RA):c.967G>A (p.Gly323Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000890209]benignY13039431303943Human1name , alternate_id
15115589CV758686single nucleotide variantNM_172245.4(CSF2RA):c.464G>A (p.Arg155Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001397113]likely benignX12888791288879Human1name , alternate_id
15115589CV758686single nucleotide variantNM_172245.4(CSF2RA):c.464G>A (p.Arg155Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001397113]likely benignY12888791288879Human1name , alternate_id
26891385CV850353single nucleotide variantNM_172245.4(CSF2RA):c.347G>A (p.Arg116Lys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001068230]uncertain significanceX12887621288762Human1name , alternate_id
26891385CV850353single nucleotide variantNM_172245.4(CSF2RA):c.347G>A (p.Arg116Lys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001068230]uncertain significanceY12887621288762Human1name , alternate_id
26922581CV850355single nucleotide variantNM_172245.4(CSF2RA):c.595C>T (p.Arg199Ter)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001062354]pathogenicX12904581290458Human1name , alternate_id
26922581CV850355single nucleotide variantNM_172245.4(CSF2RA):c.595C>T (p.Arg199Ter)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001062354]pathogenicY12904581290458Human1name , alternate_id
26920636CV850356single nucleotide variantNM_172245.4(CSF2RA):c.601A>C (p.Ile201Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001060192]uncertain significanceX12904641290464Human1name , alternate_id
26920636CV850356single nucleotide variantNM_172245.4(CSF2RA):c.601A>C (p.Ile201Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001060192]uncertain significanceY12904641290464Human1name , alternate_id
26904306CV850357single nucleotide variantNM_172245.4(CSF2RA):c.610C>T (p.Gln204Ter)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001050755]pathogenicX12904731290473Human1name , alternate_id
26904306CV850357single nucleotide variantNM_172245.4(CSF2RA):c.610C>T (p.Gln204Ter)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001050755]pathogenicY12904731290473Human1name , alternate_id
26890822CV850358single nucleotide variantNM_172245.4(CSF2RA):c.789G>C (p.Gln263His)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001046187]uncertain significanceX12954351295435Human1name , alternate_id
26890822CV850358single nucleotide variantNM_172245.4(CSF2RA):c.789G>C (p.Gln263His)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001046187]uncertain significanceY12954351295435Human1name , alternate_id
38491416CV929843single nucleotide variantNM_172245.4(CSF2RA):c.334C>T (p.Pro112Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001222822]|not provided [RCV004695212]uncertain significanceX12886331288633Human1name , alternate_id
38491416CV929843single nucleotide variantNM_172245.4(CSF2RA):c.334C>T (p.Pro112Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001222822]|not provided [RCV004695212]uncertain significanceY12886331288633Human1name , alternate_id
38478368CV929844single nucleotide variantNM_172245.4(CSF2RA):c.358G>A (p.Ala120Thr)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001216564]uncertain significanceX12887731288773Human1name , alternate_id
38478368CV929844single nucleotide variantNM_172245.4(CSF2RA):c.358G>A (p.Ala120Thr)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001216564]uncertain significanceY12887731288773Human1name , alternate_id
38491813CV929845single nucleotide variantNM_172245.4(CSF2RA):c.428C>T (p.Thr143Met)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001223096]uncertain significanceX12888431288843Human1name , alternate_id
38491813CV929845single nucleotide variantNM_172245.4(CSF2RA):c.428C>T (p.Thr143Met)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001223096]uncertain significanceY12888431288843Human1name , alternate_id
38474278CV939705single nucleotide variantNM_172245.4(CSF2RA):c.580G>A (p.Val194Ile)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001203749]uncertain significanceX12904431290443Human1name , alternate_id
38474278CV939705single nucleotide variantNM_172245.4(CSF2RA):c.580G>A (p.Val194Ile)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001203749]uncertain significanceY12904431290443Human1name , alternate_id
38487810CV939706single nucleotide variantNM_172245.4(CSF2RA):c.625C>G (p.Leu209Val)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001209471]uncertain significanceX12904881290488Human1name , alternate_id
38487810CV939706single nucleotide variantNM_172245.4(CSF2RA):c.625C>G (p.Leu209Val)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001209471]uncertain significanceY12904881290488Human1name , alternate_id
38457804CV939707single nucleotide variantNM_172245.4(CSF2RA):c.836A>C (p.Asn279Thr)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001211231]uncertain significanceX13005161300516Human1name , alternate_id
38457804CV939707single nucleotide variantNM_172245.4(CSF2RA):c.836A>C (p.Asn279Thr)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001211231]uncertain significanceY13005161300516Human1name , alternate_id
38489808CV939708single nucleotide variantNM_172245.4(CSF2RA):c.904C>T (p.Arg302Cys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001210368]uncertain significanceX13005841300584Human1name , alternate_id
38489808CV939708single nucleotide variantNM_172245.4(CSF2RA):c.904C>T (p.Arg302Cys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001210368]uncertain significanceY13005841300584Human1name , alternate_id
38482521CV939709single nucleotide variantNM_172245.4(CSF2RA):c.988C>T (p.Leu330Phe)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001207294]uncertain significanceX13039641303964Human1name , alternate_id
38482521CV939709single nucleotide variantNM_172245.4(CSF2RA):c.988C>T (p.Leu330Phe)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001207294]uncertain significanceY13039641303964Human1name , alternate_id
38470701CV951917single nucleotide variantNM_172245.4(CSF2RA):c.436C>T (p.Arg146Cys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001231041]uncertain significanceX12888511288851Human1name , alternate_id
38470701CV951917single nucleotide variantNM_172245.4(CSF2RA):c.436C>T (p.Arg146Cys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001231041]uncertain significanceY12888511288851Human1name , alternate_id
38484738CV951918single nucleotide variantNM_172245.4(CSF2RA):c.682T>C (p.Cys228Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001236491]uncertain significanceX12943631294363Human1name , alternate_id
38484738CV951918single nucleotide variantNM_172245.4(CSF2RA):c.682T>C (p.Cys228Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001236491]uncertain significanceY12943631294363Human1name , alternate_id
38482733CV951919single nucleotide variantNM_172245.4(CSF2RA):c.826G>A (p.Asp276Asn)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001235643]uncertain significanceX13005061300506Human1name , alternate_id
38482733CV951919single nucleotide variantNM_172245.4(CSF2RA):c.826G>A (p.Asp276Asn)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001235643]uncertain significanceY13005061300506Human1name , alternate_id
38492710CV959382single nucleotide variantNM_172245.4(CSF2RA):c.952G>A (p.Asp318Asn)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001240265]uncertain significanceX13039281303928Human1name , alternate_id
38492710CV959382single nucleotide variantNM_172245.4(CSF2RA):c.952G>A (p.Asp318Asn)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001240265]uncertain significanceY13039281303928Human1name , alternate_id
126753673CV999910single nucleotide variantNM_172245.4(CSF2RA):c.442G>A (p.Val148Ile)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001307444]uncertain significanceX12888571288857Human1name , alternate_id
126753673CV999910single nucleotide variantNM_172245.4(CSF2RA):c.442G>A (p.Val148Ile)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001307444]uncertain significanceY12888571288857Human1name , alternate_id
126768380CV1015102single nucleotide variantNM_172245.4(CSF2RA):c.1171G>A (p.Glu391Lys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001321332]uncertain significanceX13094471309447Human1name , alternate_id
126768380CV1015102single nucleotide variantNM_172245.4(CSF2RA):c.1171G>A (p.Glu391Lys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001321332]uncertain significanceY13094471309447Human1name , alternate_id
126728853CV1035670single nucleotide variantNM_172245.4(CSF2RA):c.1129A>C (p.Ile377Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001349002]uncertain significanceX13094051309405Human1name , alternate_id
126728853CV1035670single nucleotide variantNM_172245.4(CSF2RA):c.1129A>C (p.Ile377Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001349002]uncertain significanceY13094051309405Human1name , alternate_id
126922621CV1052572single nucleotide variantNM_172245.4(CSF2RA):c.1006C>T (p.Leu336Phe)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001364881]uncertain significanceX13039821303982Human1name , alternate_id
126922621CV1052572single nucleotide variantNM_172245.4(CSF2RA):c.1006C>T (p.Leu336Phe)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001364881]uncertain significanceY13039821303982Human1name , alternate_id
126918186CV1052573single nucleotide variantNM_172245.4(CSF2RA):c.1111G>C (p.Glu371Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001372512]uncertain significanceX13055131305513Human1name , alternate_id
126918186CV1052573single nucleotide variantNM_172245.4(CSF2RA):c.1111G>C (p.Glu371Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001372512]uncertain significanceY13055131305513Human1name , alternate_id
126918726CV1052574single nucleotide variantNM_172245.4(CSF2RA):c.1148C>T (p.Pro383Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001372828]uncertain significanceX13094241309424Human1name , alternate_id
126918726CV1052574single nucleotide variantNM_172245.4(CSF2RA):c.1148C>T (p.Pro383Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001372828]uncertain significanceY13094241309424Human1name , alternate_id
151784758CV1344732single nucleotide variantNM_172245.4(CSF2RA):c.1021G>A (p.Val341Ile)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001989459]uncertain significanceX13039971303997Human1name , alternate_id
151784758CV1344732single nucleotide variantNM_172245.4(CSF2RA):c.1021G>A (p.Val341Ile)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001989459]uncertain significanceY13039971303997Human1name , alternate_id
151765561CV1358833single nucleotide variantNM_172245.4(CSF2RA):c.1168C>T (p.Arg390Cys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001970661]uncertain significanceX13094441309444Human1name , alternate_id
151765561CV1358833single nucleotide variantNM_172245.4(CSF2RA):c.1168C>T (p.Arg390Cys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001970661]uncertain significanceY13094441309444Human1name , alternate_id
151817878CV1385043single nucleotide variantNM_172245.4(CSF2RA):c.1123G>A (p.Glu375Lys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001992480]uncertain significanceX13055251305525Human1name , alternate_id
151817878CV1385043single nucleotide variantNM_172245.4(CSF2RA):c.1123G>A (p.Glu375Lys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001992480]uncertain significanceY13055251305525Human1name , alternate_id
151821546CV1387340single nucleotide variantNM_172245.4(CSF2RA):c.1186G>A (p.Val396Met)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001992824]uncertain significanceX13094621309462Human1name , alternate_id
151821546CV1387340single nucleotide variantNM_172245.4(CSF2RA):c.1186G>A (p.Val396Met)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001992824]uncertain significanceY13094621309462Human1name , alternate_id
151793010CV1411266single nucleotide variantNM_172245.4(CSF2RA):c.1015G>A (p.Gly339Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002010876]uncertain significanceX13039911303991Human1name , alternate_id
151793010CV1411266single nucleotide variantNM_172245.4(CSF2RA):c.1015G>A (p.Gly339Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002010876]uncertain significanceY13039911303991Human1name , alternate_id
151777523CV1411748single nucleotide variantNM_172245.4(CSF2RA):c.1143C>G (p.Phe381Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001930118]uncertain significanceX13094191309419Human1name , alternate_id
151777523CV1411748single nucleotide variantNM_172245.4(CSF2RA):c.1143C>G (p.Phe381Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001930118]uncertain significanceY13094191309419Human1name , alternate_id
151827398CV1471990single nucleotide variantNM_172245.4(CSF2RA):c.1123G>C (p.Glu375Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002030465]uncertain significanceX13055251305525Human1name , alternate_id
151827398CV1471990single nucleotide variantNM_172245.4(CSF2RA):c.1123G>C (p.Glu375Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002030465]uncertain significanceY13055251305525Human1name , alternate_id
151844641CV1501491single nucleotide variantNM_172245.4(CSF2RA):c.1027G>T (p.Gly343Cys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002015751]uncertain significanceX13040031304003Human1name , alternate_id
151844641CV1501491single nucleotide variantNM_172245.4(CSF2RA):c.1027G>T (p.Gly343Cys)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002015751]uncertain significanceY13040031304003Human1name , alternate_id
151845637CV1501645single nucleotide variantNM_172245.4(CSF2RA):c.1037T>A (p.Phe346Tyr)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002015869]uncertain significanceX13040131304013Human1name , alternate_id
151845637CV1501645single nucleotide variantNM_172245.4(CSF2RA):c.1037T>A (p.Phe346Tyr)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002015869]uncertain significanceY13040131304013Human1name , alternate_id
151719391CV1505855single nucleotide variantNM_172245.4(CSF2RA):c.1045T>C (p.Phe349Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002039845]uncertain significanceX13054471305447Human1name , alternate_id
151719391CV1505855single nucleotide variantNM_172245.4(CSF2RA):c.1045T>C (p.Phe349Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002039845]uncertain significanceY13054471305447Human1name , alternate_id
156380972CV1873607single nucleotide variantNM_172245.4(CSF2RA):c.1070C>A (p.Pro357Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003067164]uncertain significanceX13054721305472Human1name , alternate_id
156380972CV1873607single nucleotide variantNM_172245.4(CSF2RA):c.1070C>A (p.Pro357Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003067164]uncertain significanceY13054721305472Human1name , alternate_id
156245871CV1890342single nucleotide variantNM_172245.4(CSF2RA):c.1169G>A (p.Arg390His)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003085921]uncertain significanceX13094451309445Human1name , alternate_id
156245871CV1890342single nucleotide variantNM_172245.4(CSF2RA):c.1169G>A (p.Arg390His)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003085921]uncertain significanceY13094451309445Human1name , alternate_id
156034226CV2152788single nucleotide variantNM_172245.4(CSF2RA):c.1172A>C (p.Glu391Ala)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003018806]uncertain significanceX13094481309448Human1name , alternate_id
156034226CV2152788single nucleotide variantNM_172245.4(CSF2RA):c.1172A>C (p.Glu391Ala)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003018806]uncertain significanceY13094481309448Human1name , alternate_id
13822445CV575470single nucleotide variantNM_172245.4(CSF2RA):c.1006C>G (p.Leu336Val)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000697330]|not provided [RCV004692148]uncertain significanceY13039821303982Human1name , alternate_id
13822445CV575470single nucleotide variantNM_172245.4(CSF2RA):c.1006C>G (p.Leu336Val)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000697330]|not provided [RCV004692148]uncertain significanceX13039821303982Human1name , alternate_id
13815274CV575475single nucleotide variantNM_172245.4(CSF2RA):c.1016G>T (p.Gly339Val)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000705602]uncertain significanceX13039921303992Human1name , alternate_id
13815274CV575475single nucleotide variantNM_172245.4(CSF2RA):c.1016G>T (p.Gly339Val)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000705602]uncertain significanceY13039921303992Human1name , alternate_id
14735175CV650299single nucleotide variantNM_172245.4(CSF2RA):c.1034T>C (p.Leu345Pro)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000819471]uncertain significanceY13040101304010Human1name , alternate_id
14735175CV650299single nucleotide variantNM_172245.4(CSF2RA):c.1034T>C (p.Leu345Pro)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000819471]uncertain significanceX13040101304010Human1name , alternate_id
14729264CV650300single nucleotide variantNM_172245.4(CSF2RA):c.1055T>G (p.Ile352Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000800410]uncertain significanceY13054571305457Human1name , alternate_id
14729264CV650300single nucleotide variantNM_172245.4(CSF2RA):c.1055T>G (p.Ile352Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000800410]uncertain significanceX13054571305457Human1name , alternate_id
14729454CV650301single nucleotide variantNM_172245.4(CSF2RA):c.1061G>A (p.Arg354Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000800495]uncertain significanceY13054631305463Human1name , alternate_id
14729454CV650301single nucleotide variantNM_172245.4(CSF2RA):c.1061G>A (p.Arg354Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000800495]uncertain significanceX13054631305463Human1name , alternate_id
14730507CV650302single nucleotide variantNM_172245.4(CSF2RA):c.1156G>A (p.Gly386Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000800984]|not provided [RCV002261210]uncertain significanceY13094321309432Human1name , alternate_id
14730507CV650302single nucleotide variantNM_172245.4(CSF2RA):c.1156G>A (p.Gly386Arg)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000800984]|not provided [RCV002261210]uncertain significanceX13094321309432Human1name , alternate_id
14733371CV650303single nucleotide variantNM_172245.4(CSF2RA):c.1168C>G (p.Arg390Gly)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000818672]uncertain significanceY13094441309444Human1name , alternate_id
14733371CV650303single nucleotide variantNM_172245.4(CSF2RA):c.1168C>G (p.Arg390Gly)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000818672]uncertain significanceX13094441309444Human1name , alternate_id
26897111CV850359single nucleotide variantNM_172245.4(CSF2RA):c.1064T>C (p.Leu355Pro)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001048373]uncertain significanceX13054661305466Human1name , alternate_id
26897111CV850359single nucleotide variantNM_172245.4(CSF2RA):c.1064T>C (p.Leu355Pro)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001048373]uncertain significanceY13054661305466Human1name , alternate_id
34896688CV917375single nucleotide variantNM_172245.4(CSF2RA):c.1118A>T (p.Glu373Val)not specified [RCV001194228]uncertain significanceX13055201305520Humanname
34896688CV917375single nucleotide variantNM_172245.4(CSF2RA):c.1118A>T (p.Glu373Val)not specified [RCV001194228]uncertain significanceY13055201305520Humanname
38478213CV929846single nucleotide variantNM_172245.4(CSF2RA):c.1070C>T (p.Pro357Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001216506]uncertain significanceX13054721305472Human1name , alternate_id
38478213CV929846single nucleotide variantNM_172245.4(CSF2RA):c.1070C>T (p.Pro357Leu)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001216506]uncertain significanceY13054721305472Human1name , alternate_id
38485945CV951920single nucleotide variantNM_172245.4(CSF2RA):c.1027G>A (p.Gly343Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001237000]uncertain significanceX13040031304003Human1name , alternate_id
38485945CV951920single nucleotide variantNM_172245.4(CSF2RA):c.1027G>A (p.Gly343Ser)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001237000]uncertain significanceY13040031304003Human1name , alternate_id
152982832CV1677693duplicationNM_172245.4(CSF2RA):c.920_921dup (p.Ser308fs)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002249846]pathogenicX13005991300600Human1name , alternate_id
152982832CV1677693duplicationNM_172245.4(CSF2RA):c.920_921dup (p.Ser308fs)Surfactant metabolism dysfunction, pulmonary, 4 [RCV002249846]pathogenicY13005991300600Human1name , alternate_id
9688444CV176763single nucleotide variantNM_001161529.1(CSF2RA):c.491G>A (p.Arg164Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000560401]|not provided [RCV001701617]|not specified [RCV000150363]benign|likely benignY12903541290354Human1name , alternate_id
9688444CV176763single nucleotide variantNM_001161529.1(CSF2RA):c.491G>A (p.Arg164Gln)Surfactant metabolism dysfunction, pulmonary, 4 [RCV000560401]|not provided [RCV001701617]|not specified [RCV000150363]benign|likely benignX12903541290354Human1name , alternate_id
156289265CV2155069microsatelliteNM_172245.4(CSF2RA):c.350_353del (p.Glu117fs)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003009901]pathogenicX12887611288764Humanname , alternate_id
156289265CV2155069microsatelliteNM_172245.4(CSF2RA):c.350_353del (p.Glu117fs)Surfactant metabolism dysfunction, pulmonary, 4 [RCV003009901]pathogenicY12887611288764Humanname , alternate_id
26915174CV850354deletionNM_172245.4(CSF2RA):c.368_377del (p.Asn123fs)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001041175]pathogenicX12887831288792Human1name , alternate_id
26915174CV850354deletionNM_172245.4(CSF2RA):c.368_377del (p.Asn123fs)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001041175]pathogenicY12887831288792Human1name , alternate_id
151756823CV1382009deletionNM_172245.4(CSF2RA):c.477_479del (p.Arg161del)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001969744]uncertain significanceX12903381290340Human1name , alternate_id
151756823CV1382009deletionNM_172245.4(CSF2RA):c.477_479del (p.Arg161del)Surfactant metabolism dysfunction, pulmonary, 4 [RCV001969744]uncertain significanceY12903381290340Human1name , alternate_id
8637769CV92995single nucleotide variantNM_001161529.1(CSF2RA):c.1153G>A (p.Glu385Lys)Malignant melanoma [RCV000073093]not providedX13094291309429Humanname
8637769CV92995single nucleotide variantNM_001161529.1(CSF2RA):c.1153G>A (p.Glu385Lys)Malignant melanoma [RCV000073093]not providedY13094291309429Humanname
8561613CV25393deletionNG_012280.1:g.(22122_24720)_(45680_?)delSurfactant metabolism dysfunction, pulmonary, 4 [RCV000011067]pathogenicX12885191309479Human1alternate_id