| 9689854 | CV178254 | single nucleotide variant | NM_172245.4(CSF2RA):c.*9G>A | CSF2RA-related disorder [RCV003917531]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001262878]|not provided [RCV001618312]|not specified [RCV000155479] | benign | Y | 1309488 | 1309488 | Human | 1 | name , trait , alternate_id |
| 9689854 | CV178254 | single nucleotide variant | NM_172245.4(CSF2RA):c.*9G>A | CSF2RA-related disorder [RCV003917531]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001262878]|not provided [RCV001618312]|not specified [RCV000155479] | benign | X | 1309488 | 1309488 | Human | 1 | name , trait , alternate_id |
| 13836737 | CV588016 | single nucleotide variant | NM_172245.4(CSF2RA):c.*7G>A | not provided [RCV000732939] | uncertain significance | X | 1309486 | 1309486 | Human | | name |
| 13836737 | CV588016 | single nucleotide variant | NM_172245.4(CSF2RA):c.*7G>A | not provided [RCV000732939] | uncertain significance | Y | 1309486 | 1309486 | Human | | name |
| 11092607 | CV231308 | single nucleotide variant | NM_172245.4(CSF2RA):c.*49G>T | CSF2RA-related disorder [RCV003917866]|not provided [RCV001651072]|not specified [RCV000218760] | benign|likely benign | X | 1309528 | 1309528 | Human | 1 | name , trait , alternate_id |
| 11092607 | CV231308 | single nucleotide variant | NM_172245.4(CSF2RA):c.*49G>T | CSF2RA-related disorder [RCV003917866]|not provided [RCV001651072]|not specified [RCV000218760] | benign|likely benign | Y | 1309528 | 1309528 | Human | 1 | name , trait , alternate_id |
| 329846342 | CV2524665 | single nucleotide variant | NM_172245.4(CSF2RA):c.*44G>A | not provided [RCV003228148] | uncertain significance | X | 1309523 | 1309523 | Human | | name |
| 329846342 | CV2524665 | single nucleotide variant | NM_172245.4(CSF2RA):c.*44G>A | not provided [RCV003228148] | uncertain significance | Y | 1309523 | 1309523 | Human | | name |
| 401934730 | CV2802804 | single nucleotide variant | NM_172245.4(CSF2RA):c.*48C>T | CSF2RA-related disorder [RCV003412157] | uncertain significance | Y | 1309527 | 1309527 | Human | | name , trait , alternate_id |
| 401934730 | CV2802804 | single nucleotide variant | NM_172245.4(CSF2RA):c.*48C>T | CSF2RA-related disorder [RCV003412157] | uncertain significance | X | 1309527 | 1309527 | Human | | name , trait , alternate_id |
| 405259926 | CV3190110 | single nucleotide variant | NM_172245.4(CSF2RA):c.*51G>A | CSF2RA-related disorder [RCV003894513] | likely benign | X | 1309530 | 1309530 | Human | | name , trait , alternate_id |
| 405259926 | CV3190110 | single nucleotide variant | NM_172245.4(CSF2RA):c.*51G>A | CSF2RA-related disorder [RCV003894513] | likely benign | Y | 1309530 | 1309530 | Human | | name , trait , alternate_id |
| 405277555 | CV3195885 | single nucleotide variant | NM_172245.4(CSF2RA):c.*49G>A | CSF2RA-related disorder [RCV003904412]|not specified [RCV004018012] | benign|likely benign | X | 1309528 | 1309528 | Human | 1 | name , trait , alternate_id |
| 405277555 | CV3195885 | single nucleotide variant | NM_172245.4(CSF2RA):c.*49G>A | CSF2RA-related disorder [RCV003904412]|not specified [RCV004018012] | benign|likely benign | Y | 1309528 | 1309528 | Human | 1 | name , trait , alternate_id |
| 127259516 | CV1108659 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-6T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001427616] | likely benign | X | 1285772 | 1285772 | Human | 1 | name , alternate_id |
| 127259516 | CV1108659 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-6T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001427616] | likely benign | Y | 1285772 | 1285772 | Human | 1 | name , alternate_id |
| 150411285 | CV1178812 | single nucleotide variant | NM_172245.4(CSF2RA):c.*274C>T | not provided [RCV001547083] | likely benign | X | 1309753 | 1309753 | Human | | name |
| 150411285 | CV1178812 | single nucleotide variant | NM_172245.4(CSF2RA):c.*274C>T | not provided [RCV001547083] | likely benign | Y | 1309753 | 1309753 | Human | | name |
| 150424511 | CV1185872 | single nucleotide variant | NM_172245.4(CSF2RA):c.*144A>G | not provided [RCV001556756] | likely benign | X | 1309623 | 1309623 | Human | | name |
| 150424511 | CV1185872 | single nucleotide variant | NM_172245.4(CSF2RA):c.*144A>G | not provided [RCV001556756] | likely benign | Y | 1309623 | 1309623 | Human | | name |
| 150476779 | CV1203092 | single nucleotide variant | NM_172245.4(CSF2RA):c.*195G>T | not provided [RCV001589686] | likely benign | X | 1309674 | 1309674 | Human | | name |
| 150476779 | CV1203092 | single nucleotide variant | NM_172245.4(CSF2RA):c.*195G>T | not provided [RCV001589686] | likely benign | Y | 1309674 | 1309674 | Human | | name |
| 150501250 | CV1256255 | single nucleotide variant | NM_172245.4(CSF2RA):c.*235C>T | not provided [RCV001676879] | benign | X | 1309714 | 1309714 | Human | | name |
| 150501250 | CV1256255 | single nucleotide variant | NM_172245.4(CSF2RA):c.*235C>T | not provided [RCV001676879] | benign | Y | 1309714 | 1309714 | Human | | name |
| 150442078 | CV1265878 | single nucleotide variant | NM_172245.4(CSF2RA):c.*358A>G | not provided [RCV001690603] | benign | X | 1309837 | 1309837 | Human | | name |
| 150442078 | CV1265878 | single nucleotide variant | NM_172245.4(CSF2RA):c.*358A>G | not provided [RCV001690603] | benign | Y | 1309837 | 1309837 | Human | | name |
| 150460238 | CV1268466 | single nucleotide variant | NM_172245.4(CSF2RA):c.*366A>G | not provided [RCV001693463] | benign | X | 1309845 | 1309845 | Human | | name |
| 150460238 | CV1268466 | single nucleotide variant | NM_172245.4(CSF2RA):c.*366A>G | not provided [RCV001693463] | benign | Y | 1309845 | 1309845 | Human | | name |
| 150452189 | CV1276696 | single nucleotide variant | NM_172245.4(CSF2RA):c.*385C>G | not provided [RCV001708485] | benign | X | 1309864 | 1309864 | Human | | name |
| 150452189 | CV1276696 | single nucleotide variant | NM_172245.4(CSF2RA):c.*385C>G | not provided [RCV001708485] | benign | Y | 1309864 | 1309864 | Human | | name |
| 152060699 | CV1559238 | single nucleotide variant | NM_172245.4(CSF2RA):c.76+7A>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002167966] | likely benign | X | 1282786 | 1282786 | Human | 1 | name , alternate_id |
| 152060699 | CV1559238 | single nucleotide variant | NM_172245.4(CSF2RA):c.76+7A>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002167966] | likely benign | Y | 1282786 | 1282786 | Human | 1 | name , alternate_id |
| 156399344 | CV2013169 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-3C>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002725864] | uncertain significance | X | 1285775 | 1285775 | Human | 1 | name , alternate_id |
| 156399344 | CV2013169 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-3C>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002725864] | uncertain significance | Y | 1285775 | 1285775 | Human | 1 | name , alternate_id |
| 126775038 | CV1035669 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+3C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001347921] | uncertain significance | X | 1294464 | 1294464 | Human | 1 | name , alternate_id |
| 126775038 | CV1035669 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+3C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001347921] | uncertain significance | Y | 1294464 | 1294464 | Human | 1 | name , alternate_id |
| 127308192 | CV1151081 | single nucleotide variant | NM_172245.4(CSF2RA):c.946+7G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001480542] | likely benign | X | 1300633 | 1300633 | Human | 1 | name , alternate_id |
| 127308192 | CV1151081 | single nucleotide variant | NM_172245.4(CSF2RA):c.946+7G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001480542] | likely benign | Y | 1300633 | 1300633 | Human | 1 | name , alternate_id |
| 150414794 | CV1192580 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-35G>A | not provided [RCV001567698] | likely benign | X | 1285743 | 1285743 | Human | | name |
| 150414794 | CV1192580 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-35G>A | not provided [RCV001567698] | likely benign | Y | 1285743 | 1285743 | Human | | name |
| 150475458 | CV1251719 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-46G>A | not provided [RCV001671917] | benign | X | 1285732 | 1285732 | Human | | name |
| 150475458 | CV1251719 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-46G>A | not provided [RCV001671917] | benign | Y | 1285732 | 1285732 | Human | | name |
| 151766947 | CV1391526 | single nucleotide variant | NM_172245.4(CSF2RA):c.810+2T>A | CSF2RA-related disorder [RCV004752118]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001970797] | likely pathogenic | X | 1295458 | 1295458 | Human | 1 | name , trait , alternate_id |
| 151766947 | CV1391526 | single nucleotide variant | NM_172245.4(CSF2RA):c.810+2T>A | CSF2RA-related disorder [RCV004752118]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001970797] | likely pathogenic | Y | 1295458 | 1295458 | Human | 1 | name , trait , alternate_id |
| 151876333 | CV1484279 | single nucleotide variant | NM_172245.4(CSF2RA):c.646+3G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001981946] | uncertain significance | X | 1290512 | 1290512 | Human | 1 | name , alternate_id |
| 151876333 | CV1484279 | single nucleotide variant | NM_172245.4(CSF2RA):c.646+3G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001981946] | uncertain significance | Y | 1290512 | 1290512 | Human | 1 | name , alternate_id |
| 152139401 | CV1562811 | single nucleotide variant | NM_172245.4(CSF2RA):c.344-4C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002100560] | likely benign | X | 1288755 | 1288755 | Human | 1 | name , alternate_id |
| 152139401 | CV1562811 | single nucleotide variant | NM_172245.4(CSF2RA):c.344-4C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002100560] | likely benign | Y | 1288755 | 1288755 | Human | 1 | name , alternate_id |
| 152089484 | CV1563105 | single nucleotide variant | NM_172245.4(CSF2RA):c.811-4A>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002113876] | likely benign | X | 1300487 | 1300487 | Human | 1 | name , alternate_id |
| 152089484 | CV1563105 | single nucleotide variant | NM_172245.4(CSF2RA):c.811-4A>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002113876] | likely benign | Y | 1300487 | 1300487 | Human | 1 | name , alternate_id |
| 152123495 | CV1563750 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-12C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002175892] | likely benign | X | 1285766 | 1285766 | Human | 1 | name , alternate_id |
| 152123495 | CV1563750 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-12C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002175892] | likely benign | Y | 1285766 | 1285766 | Human | 1 | name , alternate_id |
| 152121256 | CV1574432 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-14C>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002175609] | likely benign | X | 1285764 | 1285764 | Human | 1 | name , alternate_id |
| 152121256 | CV1574432 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-14C>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002175609] | likely benign | Y | 1285764 | 1285764 | Human | 1 | name , alternate_id |
| 152075101 | CV1599414 | single nucleotide variant | NM_172245.4(CSF2RA):c.946+8T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002075623] | likely benign | X | 1300634 | 1300634 | Human | 1 | name , alternate_id |
| 152075101 | CV1599414 | single nucleotide variant | NM_172245.4(CSF2RA):c.946+8T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002075623] | likely benign | Y | 1300634 | 1300634 | Human | 1 | name , alternate_id |
| 152122878 | CV1641018 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-16T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002098403]|not provided [RCV004704730] | likely benign | X | 1285762 | 1285762 | Human | 1 | name , alternate_id |
| 152122878 | CV1641018 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-16T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002098403]|not provided [RCV004704730] | likely benign | Y | 1285762 | 1285762 | Human | 1 | name , alternate_id |
| 152039655 | CV1649042 | single nucleotide variant | NM_172245.4(CSF2RA):c.474-9A>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002206151] | likely benign | X | 1290328 | 1290328 | Human | 1 | name , alternate_id |
| 152039655 | CV1649042 | single nucleotide variant | NM_172245.4(CSF2RA):c.474-9A>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002206151] | likely benign | Y | 1290328 | 1290328 | Human | 1 | name , alternate_id |
| 152060660 | CV1659705 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+7C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002073635] | likely benign | X | 1285927 | 1285927 | Human | 1 | name , alternate_id |
| 152060660 | CV1659705 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+7C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002073635] | likely benign | Y | 1285927 | 1285927 | Human | 1 | name , alternate_id |
| 155944969 | CV1999298 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-2A>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002685690] | likely pathogenic | X | 1294326 | 1294326 | Human | 1 | name , alternate_id |
| 155944969 | CV1999298 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-2A>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002685690] | likely pathogenic | Y | 1294326 | 1294326 | Human | 1 | name , alternate_id |
| 156231994 | CV2039785 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+8G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002805349] | likely benign | X | 1285928 | 1285928 | Human | 1 | name , alternate_id |
| 156231994 | CV2039785 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+8G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002805349] | likely benign | Y | 1285928 | 1285928 | Human | 1 | name , alternate_id |
| 156268377 | CV2059716 | single nucleotide variant | NM_172245.4(CSF2RA):c.76+17G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002806573] | likely benign | X | 1282796 | 1282796 | Human | 1 | name , alternate_id |
| 156268377 | CV2059716 | single nucleotide variant | NM_172245.4(CSF2RA):c.76+17G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002806573] | likely benign | Y | 1282796 | 1282796 | Human | 1 | name , alternate_id |
| 156249271 | CV2106471 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-11G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002933485] | likely benign | X | 1285767 | 1285767 | Human | 1 | name , alternate_id |
| 156249271 | CV2106471 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-11G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002933485] | likely benign | Y | 1285767 | 1285767 | Human | 1 | name , alternate_id |
| 156203297 | CV2134819 | single nucleotide variant | NM_172245.4(CSF2RA):c.344-5C>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002985302] | likely benign | X | 1288754 | 1288754 | Human | 1 | name , alternate_id |
| 156203297 | CV2134819 | single nucleotide variant | NM_172245.4(CSF2RA):c.344-5C>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002985302] | likely benign | Y | 1288754 | 1288754 | Human | 1 | name , alternate_id |
| 11088705 | CV231343 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-7G>A | CSF2RA-related disorder [RCV003897465]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646170]|not specified [RCV000213907] | benign|likely benign | Y | 1294321 | 1294321 | Human | 1 | name , trait , alternate_id |
| 11088705 | CV231343 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-7G>A | CSF2RA-related disorder [RCV003897465]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646170]|not specified [RCV000213907] | benign|likely benign | X | 1294321 | 1294321 | Human | 1 | name , trait , alternate_id |
| 404979723 | CV2882887 | single nucleotide variant | NM_172245.4(CSF2RA):c.811-9C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003511299] | likely benign | X | 1300482 | 1300482 | Human | 1 | name , alternate_id |
| 404979723 | CV2882887 | single nucleotide variant | NM_172245.4(CSF2RA):c.811-9C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003511299] | likely benign | Y | 1300482 | 1300482 | Human | 1 | name , alternate_id |
| 402506755 | CV2908044 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-7T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003509357] | likely benign | X | 1288512 | 1288512 | Human | 1 | name , alternate_id |
| 402506755 | CV2908044 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-7T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003509357] | likely benign | Y | 1288512 | 1288512 | Human | 1 | name , alternate_id |
| 405169464 | CV2951332 | single nucleotide variant | NM_172245.4(CSF2RA):c.76+14C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003621974] | likely benign | X | 1282793 | 1282793 | Human | 1 | name , alternate_id |
| 405169464 | CV2951332 | single nucleotide variant | NM_172245.4(CSF2RA):c.76+14C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003621974] | likely benign | Y | 1282793 | 1282793 | Human | 1 | name , alternate_id |
| 402464654 | CV2952574 | single nucleotide variant | NM_172245.4(CSF2RA):c.76+11A>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622458] | likely benign | X | 1282790 | 1282790 | Human | 1 | name , alternate_id |
| 402464654 | CV2952574 | single nucleotide variant | NM_172245.4(CSF2RA):c.76+11A>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622458] | likely benign | Y | 1282790 | 1282790 | Human | 1 | name , alternate_id |
| 405162279 | CV3160081 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-6C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003857152] | likely benign | X | 1288513 | 1288513 | Human | 1 | name , alternate_id |
| 405162279 | CV3160081 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-6C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003857152] | likely benign | Y | 1288513 | 1288513 | Human | 1 | name , alternate_id |
| 402472864 | CV3172058 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-18A>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003874661] | likely benign | X | 1285760 | 1285760 | Human | 1 | name , alternate_id |
| 402472864 | CV3172058 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-18A>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003874661] | likely benign | Y | 1285760 | 1285760 | Human | 1 | name , alternate_id |
| 405228624 | CV3180402 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-6C>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003864823] | likely benign | X | 1288513 | 1288513 | Human | 1 | name , alternate_id |
| 405228624 | CV3180402 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-6C>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003864823] | likely benign | Y | 1288513 | 1288513 | Human | 1 | name , alternate_id |
| 597925970 | CV3778433 | single nucleotide variant | NM_172245.4(CSF2RA):c.811-8C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005130956] | likely benign | X | 1300483 | 1300483 | Human | 1 | name , alternate_id |
| 597925970 | CV3778433 | single nucleotide variant | NM_172245.4(CSF2RA):c.811-8C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005130956] | likely benign | Y | 1300483 | 1300483 | Human | 1 | name , alternate_id |
| 597892574 | CV3785346 | single nucleotide variant | NM_172245.4(CSF2RA):c.343+4A>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005125932] | uncertain significance | X | 1288646 | 1288646 | Human | 1 | name , alternate_id |
| 597892574 | CV3785346 | single nucleotide variant | NM_172245.4(CSF2RA):c.343+4A>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005125932] | uncertain significance | Y | 1288646 | 1288646 | Human | 1 | name , alternate_id |
| 597954931 | CV3786783 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-10C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005121875] | likely benign | X | 1285768 | 1285768 | Human | 1 | name , alternate_id |
| 597954931 | CV3786783 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-10C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005121875] | likely benign | Y | 1285768 | 1285768 | Human | 1 | name , alternate_id |
| 597970865 | CV3802311 | deletion | NM_172245.4(CSF2RA):c.220-3del | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005141908] | uncertain significance | X | 1288516 | 1288516 | Human | 1 | name , alternate_id |
| 597970865 | CV3802311 | deletion | NM_172245.4(CSF2RA):c.220-3del | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005141908] | uncertain significance | Y | 1288516 | 1288516 | Human | 1 | name , alternate_id |
| 597976396 | CV3829644 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+9G>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005169911] | likely benign | X | 1294470 | 1294470 | Human | 1 | name , alternate_id |
| 597976396 | CV3829644 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+9G>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005169911] | likely benign | Y | 1294470 | 1294470 | Human | 1 | name , alternate_id |
| 15137735 | CV745477 | single nucleotide variant | NM_172245.4(CSF2RA):c.646+8T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001475994] | likely benign | X | 1290517 | 1290517 | Human | 1 | name , alternate_id |
| 15137735 | CV745477 | single nucleotide variant | NM_172245.4(CSF2RA):c.646+8T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001475994] | likely benign | Y | 1290517 | 1290517 | Human | 1 | name , alternate_id |
| 15156644 | CV761007 | single nucleotide variant | NM_172245.4(CSF2RA):c.646+9A>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000924709] | likely benign | X | 1290518 | 1290518 | Human | 1 | name , alternate_id |
| 15156644 | CV761007 | single nucleotide variant | NM_172245.4(CSF2RA):c.646+9A>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000924709] | likely benign | Y | 1290518 | 1290518 | Human | 1 | name , alternate_id |
| 15185126 | CV776976 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-8C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000930974] | likely benign | X | 1294320 | 1294320 | Human | 1 | name , alternate_id |
| 15185126 | CV776976 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-8C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000930974] | likely benign | Y | 1294320 | 1294320 | Human | 1 | name , alternate_id |
| 26917715 | CV853066 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+4G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001042825] | uncertain significance | X | 1294465 | 1294465 | Human | 1 | name , alternate_id |
| 26917715 | CV853066 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+4G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001042825] | uncertain significance | Y | 1294465 | 1294465 | Human | 1 | name , alternate_id |
| 26897480 | CV853067 | single nucleotide variant | NM_172245.4(CSF2RA):c.343+5G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001048563] | uncertain significance | X | 1288647 | 1288647 | Human | 1 | name , alternate_id |
| 26897480 | CV853067 | single nucleotide variant | NM_172245.4(CSF2RA):c.343+5G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001048563] | uncertain significance | Y | 1288647 | 1288647 | Human | 1 | name , alternate_id |
| 127294770 | CV1159938 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+19T>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001511916]|not provided [RCV001615181] | benign | X | 1285939 | 1285939 | Human | 1 | name , alternate_id |
| 127294770 | CV1159938 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+19T>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001511916]|not provided [RCV001615181] | benign | Y | 1285939 | 1285939 | Human | 1 | name , alternate_id |
| 127310627 | CV1159941 | single nucleotide variant | NM_172245.4(CSF2RA):c.646+18G>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001518351]|not provided [RCV001658213] | benign | X | 1290527 | 1290527 | Human | 1 | name , alternate_id |
| 127310627 | CV1159941 | single nucleotide variant | NM_172245.4(CSF2RA):c.646+18G>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001518351]|not provided [RCV001658213] | benign | Y | 1290527 | 1290527 | Human | 1 | name , alternate_id |
| 150336288 | CV1173616 | single nucleotide variant | NM_172245.4(CSF2RA):c.781-95C>T | not provided [RCV001540925] | benign | X | 1295332 | 1295332 | Human | | name |
| 150336288 | CV1173616 | single nucleotide variant | NM_172245.4(CSF2RA):c.781-95C>T | not provided [RCV001540925] | benign | Y | 1295332 | 1295332 | Human | | name |
| 150427789 | CV1189175 | single nucleotide variant | NM_172245.4(CSF2RA):c.76+118C>G | not provided [RCV001561394] | likely benign | X | 1282897 | 1282897 | Human | | name |
| 150427789 | CV1189175 | single nucleotide variant | NM_172245.4(CSF2RA):c.76+118C>G | not provided [RCV001561394] | likely benign | Y | 1282897 | 1282897 | Human | | name |
| 150428023 | CV1189176 | single nucleotide variant | NM_172245.4(CSF2RA):c.343+50C>T | not provided [RCV001561707] | likely benign | X | 1288692 | 1288692 | Human | | name |
| 150428023 | CV1189176 | single nucleotide variant | NM_172245.4(CSF2RA):c.343+50C>T | not provided [RCV001561707] | likely benign | Y | 1288692 | 1288692 | Human | | name |
| 150466443 | CV1201244 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+42C>T | not provided [RCV001587724] | likely benign | X | 1285962 | 1285962 | Human | | name |
| 150466443 | CV1201244 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+42C>T | not provided [RCV001587724] | likely benign | Y | 1285962 | 1285962 | Human | | name |
| 150434394 | CV1204337 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-94T>C | not provided [RCV001582086] | likely benign | X | 1294234 | 1294234 | Human | | name |
| 150434394 | CV1204337 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-94T>C | not provided [RCV001582086] | likely benign | Y | 1294234 | 1294234 | Human | | name |
| 150434947 | CV1206874 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+78G>A | not provided [RCV001582223] | likely benign | X | 1294539 | 1294539 | Human | | name |
| 150434947 | CV1206874 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+78G>A | not provided [RCV001582223] | likely benign | Y | 1294539 | 1294539 | Human | | name |
| 150471119 | CV1209479 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-47G>A | not provided [RCV001588590] | likely benign | X | 1294281 | 1294281 | Human | | name |
| 150471119 | CV1209479 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-47G>A | not provided [RCV001588590] | likely benign | Y | 1294281 | 1294281 | Human | | name |
| 150454652 | CV1220319 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-82A>G | not provided [RCV001612411] | benign | X | 1288437 | 1288437 | Human | | name |
| 150454652 | CV1220319 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-82A>G | not provided [RCV001612411] | benign | Y | 1288437 | 1288437 | Human | | name |
| 150503722 | CV1223807 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+97C>A | not provided [RCV001621456] | benign | X | 1286017 | 1286017 | Human | | name |
| 150503722 | CV1223807 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+97C>A | not provided [RCV001621456] | benign | Y | 1286017 | 1286017 | Human | | name |
| 150488320 | CV1226040 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-294G>A | not provided [RCV001618201] | benign | X | 1285484 | 1285484 | Human | | name |
| 150488320 | CV1226040 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-294G>A | not provided [RCV001618201] | benign | Y | 1285484 | 1285484 | Human | | name |
| 150493027 | CV1238589 | single nucleotide variant | NM_172245.4(CSF2RA):c.946+52C>G | not provided [RCV001655133] | benign | X | 1300678 | 1300678 | Human | | name |
| 150493027 | CV1238589 | single nucleotide variant | NM_172245.4(CSF2RA):c.946+52C>G | not provided [RCV001655133] | benign | Y | 1300678 | 1300678 | Human | | name |
| 150436985 | CV1249795 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-118G>C | not provided [RCV001665709] | benign | X | 1285660 | 1285660 | Human | | name |
| 150436985 | CV1249795 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-118G>C | not provided [RCV001665709] | benign | Y | 1285660 | 1285660 | Human | | name |
| 150492059 | CV1253864 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-130C>G | not provided [RCV001674960] | benign | X | 1285648 | 1285648 | Human | | name |
| 150492059 | CV1253864 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-130C>G | not provided [RCV001674960] | benign | Y | 1285648 | 1285648 | Human | | name |
| 150469347 | CV1259643 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-97T>C | not provided [RCV001683944] | benign | X | 1288422 | 1288422 | Human | | name |
| 150469347 | CV1259643 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-97T>C | not provided [RCV001683944] | benign | Y | 1288422 | 1288422 | Human | | name |
| 150455428 | CV1259866 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-35T>C | not provided [RCV001681345] | benign | X | 1288484 | 1288484 | Human | | name |
| 150455428 | CV1259866 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-35T>C | not provided [RCV001681345] | benign | Y | 1288484 | 1288484 | Human | | name |
| 150454856 | CV1261050 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-204C>A | not provided [RCV001681247] | benign | X | 1285574 | 1285574 | Human | | name |
| 150454856 | CV1261050 | single nucleotide variant | NM_172245.4(CSF2RA):c.77-204C>A | not provided [RCV001681247] | benign | Y | 1285574 | 1285574 | Human | | name |
| 150468995 | CV1268022 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-95G>A | not provided [RCV001694885] | benign | X | 1288424 | 1288424 | Human | | name |
| 150468995 | CV1268022 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-95G>A | not provided [RCV001694885] | benign | Y | 1288424 | 1288424 | Human | | name |
| 150471071 | CV1269996 | duplication | NM_172245.4(CSF2RA):c.-26-78dup | not provided [RCV001695283] | benign | X | 1282599 | 1282600 | Human | | name |
| 150471071 | CV1269996 | duplication | NM_172245.4(CSF2RA):c.-26-78dup | not provided [RCV001695283] | benign | Y | 1282599 | 1282600 | Human | | name |
| 150496689 | CV1271595 | single nucleotide variant | NM_172245.4(CSF2RA):c.811-84C>T | not provided [RCV001688896] | benign | X | 1300407 | 1300407 | Human | | name |
| 150496689 | CV1271595 | single nucleotide variant | NM_172245.4(CSF2RA):c.811-84C>T | not provided [RCV001688896] | benign | Y | 1300407 | 1300407 | Human | | name |
| 150497477 | CV1271736 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-80G>A | not provided [RCV001689037] | benign | X | 1288439 | 1288439 | Human | | name |
| 150497477 | CV1271736 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-80G>A | not provided [RCV001689037] | benign | Y | 1288439 | 1288439 | Human | | name |
| 150445286 | CV1278127 | single nucleotide variant | NM_172245.4(CSF2RA):c.810+70G>A | not provided [RCV001707270] | benign | X | 1295526 | 1295526 | Human | | name |
| 150445286 | CV1278127 | single nucleotide variant | NM_172245.4(CSF2RA):c.810+70G>A | not provided [RCV001707270] | benign | Y | 1295526 | 1295526 | Human | | name |
| 152044984 | CV1539417 | single nucleotide variant | NM_172245.4(CSF2RA):c.811-19T>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002144985] | likely benign | X | 1300472 | 1300472 | Human | 1 | name , alternate_id |
| 152044984 | CV1539417 | single nucleotide variant | NM_172245.4(CSF2RA):c.811-19T>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002144985] | likely benign | Y | 1300472 | 1300472 | Human | 1 | name , alternate_id |
| 152111484 | CV1539890 | single nucleotide variant | NM_172245.4(CSF2RA):c.946+18G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002153112] | likely benign | X | 1300644 | 1300644 | Human | 1 | name , alternate_id |
| 152111484 | CV1539890 | single nucleotide variant | NM_172245.4(CSF2RA):c.946+18G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002153112] | likely benign | Y | 1300644 | 1300644 | Human | 1 | name , alternate_id |
| 152072614 | CV1549441 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+17C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002091796] | likely benign | X | 1294478 | 1294478 | Human | 1 | name , alternate_id |
| 152072614 | CV1549441 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+17C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002091796] | likely benign | Y | 1294478 | 1294478 | Human | 1 | name , alternate_id |
| 152153041 | CV1577672 | single nucleotide variant | NM_172245.4(CSF2RA):c.344-20T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002122025] | likely benign | X | 1288739 | 1288739 | Human | 1 | name , alternate_id |
| 152153041 | CV1577672 | single nucleotide variant | NM_172245.4(CSF2RA):c.344-20T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002122025] | likely benign | Y | 1288739 | 1288739 | Human | 1 | name , alternate_id |
| 152153475 | CV1592069 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-18C>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002102586] | likely benign | X | 1288501 | 1288501 | Human | 1 | name , alternate_id |
| 152153475 | CV1592069 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-18C>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002102586] | likely benign | Y | 1288501 | 1288501 | Human | 1 | name , alternate_id |
| 152092433 | CV1593116 | single nucleotide variant | NM_172245.4(CSF2RA):c.473+17T>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002094373] | likely benign | X | 1288905 | 1288905 | Human | 1 | name , alternate_id |
| 152092433 | CV1593116 | single nucleotide variant | NM_172245.4(CSF2RA):c.473+17T>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002094373] | likely benign | Y | 1288905 | 1288905 | Human | 1 | name , alternate_id |
| 152036437 | CV1605388 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-13G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002107060] | benign | X | 1294315 | 1294315 | Human | 1 | name , alternate_id |
| 152036437 | CV1605388 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-13G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002107060] | benign | Y | 1294315 | 1294315 | Human | 1 | name , alternate_id |
| 152097393 | CV1611530 | single nucleotide variant | NM_172245.4(CSF2RA):c.646+20T>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002172646] | likely benign | X | 1290529 | 1290529 | Human | 1 | name , alternate_id |
| 152097393 | CV1611530 | single nucleotide variant | NM_172245.4(CSF2RA):c.646+20T>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002172646] | likely benign | Y | 1290529 | 1290529 | Human | 1 | name , alternate_id |
| 152052142 | CV1617348 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-15G>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002072512] | likely benign | X | 1294313 | 1294313 | Human | 1 | name , alternate_id |
| 152052142 | CV1617348 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-15G>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002072512] | likely benign | Y | 1294313 | 1294313 | Human | 1 | name , alternate_id |
| 152111228 | CV1626158 | single nucleotide variant | NM_172245.4(CSF2RA):c.781-20G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002153078] | likely benign | X | 1295407 | 1295407 | Human | 1 | name , alternate_id |
| 152111228 | CV1626158 | single nucleotide variant | NM_172245.4(CSF2RA):c.781-20G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002153078] | likely benign | Y | 1295407 | 1295407 | Human | 1 | name , alternate_id |
| 152068522 | CV1657211 | single nucleotide variant | NM_172245.4(CSF2RA):c.344-12A>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002191471] | likely benign | X | 1288747 | 1288747 | Human | 1 | name , alternate_id |
| 152068522 | CV1657211 | single nucleotide variant | NM_172245.4(CSF2RA):c.344-12A>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002191471] | likely benign | Y | 1288747 | 1288747 | Human | 1 | name , alternate_id |
| 152150883 | CV1661724 | single nucleotide variant | NM_172245.4(CSF2RA):c.946+13C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002179429] | benign | X | 1300639 | 1300639 | Human | 1 | name , alternate_id |
| 152150883 | CV1661724 | single nucleotide variant | NM_172245.4(CSF2RA):c.946+13C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002179429] | benign | Y | 1300639 | 1300639 | Human | 1 | name , alternate_id |
| 152120313 | CV1661992 | single nucleotide variant | NM_172245.4(CSF2RA):c.473+12C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002117769] | benign | X | 1288900 | 1288900 | Human | 1 | name , alternate_id |
| 152120313 | CV1661992 | single nucleotide variant | NM_172245.4(CSF2RA):c.473+12C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002117769] | benign | Y | 1288900 | 1288900 | Human | 1 | name , alternate_id |
| 156090716 | CV1895510 | single nucleotide variant | NM_172245.4(CSF2RA):c.344-16T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003080203] | likely benign | X | 1288743 | 1288743 | Human | 1 | name , alternate_id |
| 156090716 | CV1895510 | single nucleotide variant | NM_172245.4(CSF2RA):c.344-16T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003080203] | likely benign | Y | 1288743 | 1288743 | Human | 1 | name , alternate_id |
| 156416552 | CV1901444 | single nucleotide variant | NM_172245.4(CSF2RA):c.946+14G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002610234] | likely benign | X | 1300640 | 1300640 | Human | 1 | name , alternate_id |
| 156416552 | CV1901444 | single nucleotide variant | NM_172245.4(CSF2RA):c.946+14G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002610234] | likely benign | Y | 1300640 | 1300640 | Human | 1 | name , alternate_id |
| 156305108 | CV1916387 | single nucleotide variant | NM_172245.4(CSF2RA):c.343+14C>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002599362] | likely benign|uncertain significance | X | 1288656 | 1288656 | Human | 1 | name , alternate_id |
| 156305108 | CV1916387 | single nucleotide variant | NM_172245.4(CSF2RA):c.343+14C>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002599362] | likely benign|uncertain significance | Y | 1288656 | 1288656 | Human | 1 | name , alternate_id |
| 156418718 | CV1918670 | single nucleotide variant | NM_172245.4(CSF2RA):c.1043+1G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002611923] | likely pathogenic | X | 1304020 | 1304020 | Human | 1 | name , alternate_id |
| 156418718 | CV1918670 | single nucleotide variant | NM_172245.4(CSF2RA):c.1043+1G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002611923] | likely pathogenic | Y | 1304020 | 1304020 | Human | 1 | name , alternate_id |
| 156410206 | CV1962152 | single nucleotide variant | NM_172245.4(CSF2RA):c.781-12T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002587078] | likely benign | X | 1295415 | 1295415 | Human | 1 | name , alternate_id |
| 156410206 | CV1962152 | single nucleotide variant | NM_172245.4(CSF2RA):c.781-12T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002587078] | likely benign | Y | 1295415 | 1295415 | Human | 1 | name , alternate_id |
| 156186763 | CV1964741 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-13G>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002574284] | likely benign|uncertain significance | X | 1294315 | 1294315 | Human | 1 | name , alternate_id |
| 156186763 | CV1964741 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-13G>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002574284] | likely benign|uncertain significance | Y | 1294315 | 1294315 | Human | 1 | name , alternate_id |
| 156249058 | CV1969666 | single nucleotide variant | NM_172245.4(CSF2RA):c.474-15T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002597408] | likely benign | X | 1290322 | 1290322 | Human | 1 | name , alternate_id |
| 156249058 | CV1969666 | single nucleotide variant | NM_172245.4(CSF2RA):c.474-15T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002597408] | likely benign | Y | 1290322 | 1290322 | Human | 1 | name , alternate_id |
| 156008119 | CV1989496 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+18T>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002636080] | likely benign | X | 1285938 | 1285938 | Human | 1 | name , alternate_id |
| 156008119 | CV1989496 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+18T>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002636080] | likely benign | Y | 1285938 | 1285938 | Human | 1 | name , alternate_id |
| 156152320 | CV2049149 | single nucleotide variant | NM_172245.4(CSF2RA):c.810+11C>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002801332] | likely benign | X | 1295467 | 1295467 | Human | 1 | name , alternate_id |
| 156152320 | CV2049149 | single nucleotide variant | NM_172245.4(CSF2RA):c.810+11C>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002801332] | likely benign | Y | 1295467 | 1295467 | Human | 1 | name , alternate_id |
| 155943478 | CV2062020 | single nucleotide variant | NM_172245.4(CSF2RA):c.947-14G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002815842] | likely benign | X | 1303909 | 1303909 | Human | 1 | name , alternate_id |
| 155943478 | CV2062020 | single nucleotide variant | NM_172245.4(CSF2RA):c.947-14G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002815842] | likely benign | Y | 1303909 | 1303909 | Human | 1 | name , alternate_id |
| 156118194 | CV2081445 | single nucleotide variant | NM_172245.4(CSF2RA):c.473+17T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002889453] | likely benign | X | 1288905 | 1288905 | Human | 1 | name , alternate_id |
| 156118194 | CV2081445 | single nucleotide variant | NM_172245.4(CSF2RA):c.473+17T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002889453] | likely benign | Y | 1288905 | 1288905 | Human | 1 | name , alternate_id |
| 155977216 | CV2146636 | single nucleotide variant | NM_172245.4(CSF2RA):c.811-11T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003016208] | likely benign | X | 1300480 | 1300480 | Human | 1 | name , alternate_id |
| 155977216 | CV2146636 | single nucleotide variant | NM_172245.4(CSF2RA):c.811-11T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003016208] | likely benign | Y | 1300480 | 1300480 | Human | 1 | name , alternate_id |
| 402516675 | CV2864799 | single nucleotide variant | NM_172245.4(CSF2RA):c.810+18C>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003510443] | likely benign | X | 1295474 | 1295474 | Human | 1 | name , alternate_id |
| 402516675 | CV2864799 | single nucleotide variant | NM_172245.4(CSF2RA):c.810+18C>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003510443] | likely benign | Y | 1295474 | 1295474 | Human | 1 | name , alternate_id |
| 405169551 | CV2961774 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+12C>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003621982] | likely benign | X | 1294473 | 1294473 | Human | 1 | name , alternate_id |
| 405169551 | CV2961774 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+12C>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003621982] | likely benign | Y | 1294473 | 1294473 | Human | 1 | name , alternate_id |
| 402467621 | CV3015955 | single nucleotide variant | NM_172245.4(CSF2RA):c.810+20C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623224] | likely benign | X | 1295476 | 1295476 | Human | 1 | name , alternate_id |
| 402467621 | CV3015955 | single nucleotide variant | NM_172245.4(CSF2RA):c.810+20C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623224] | likely benign | Y | 1295476 | 1295476 | Human | 1 | name , alternate_id |
| 402468792 | CV3027846 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-12G>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623534] | likely benign | X | 1288507 | 1288507 | Human | 1 | name , alternate_id |
| 402468792 | CV3027846 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-12G>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623534] | likely benign | Y | 1288507 | 1288507 | Human | 1 | name , alternate_id |
| 402469170 | CV3036393 | single nucleotide variant | NM_172245.4(CSF2RA):c.781-18G>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623635] | likely benign | X | 1295409 | 1295409 | Human | 1 | name , alternate_id |
| 402469170 | CV3036393 | single nucleotide variant | NM_172245.4(CSF2RA):c.781-18G>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623635] | likely benign | Y | 1295409 | 1295409 | Human | 1 | name , alternate_id |
| 402469235 | CV3039669 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-10A>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623652] | likely benign | X | 1288509 | 1288509 | Human | 1 | name , alternate_id |
| 402469235 | CV3039669 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-10A>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623652] | likely benign | Y | 1288509 | 1288509 | Human | 1 | name , alternate_id |
| 402469921 | CV3048789 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+18G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623838] | likely benign | X | 1294479 | 1294479 | Human | 1 | name , alternate_id |
| 402469921 | CV3048789 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+18G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623838] | likely benign | Y | 1294479 | 1294479 | Human | 1 | name , alternate_id |
| 405170320 | CV3060912 | single nucleotide variant | NM_172245.4(CSF2RA):c.947-10G>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622053] | likely benign | X | 1303913 | 1303913 | Human | 1 | name , alternate_id |
| 405170320 | CV3060912 | single nucleotide variant | NM_172245.4(CSF2RA):c.947-10G>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622053] | likely benign | Y | 1303913 | 1303913 | Human | 1 | name , alternate_id |
| 405168336 | CV3149814 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-14C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003841285] | likely benign | X | 1294314 | 1294314 | Human | 1 | name , alternate_id |
| 405168336 | CV3149814 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-14C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003841285] | likely benign | Y | 1294314 | 1294314 | Human | 1 | name , alternate_id |
| 405082799 | CV3167146 | single nucleotide variant | NM_172245.4(CSF2RA):c.810+18C>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003851725] | likely benign | X | 1295474 | 1295474 | Human | 1 | name , alternate_id |
| 405082799 | CV3167146 | single nucleotide variant | NM_172245.4(CSF2RA):c.810+18C>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003851725] | likely benign | Y | 1295474 | 1295474 | Human | 1 | name , alternate_id |
| 402488880 | CV3181996 | single nucleotide variant | NM_172245.4(CSF2RA):c.343+19G>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003876665] | likely benign | X | 1288661 | 1288661 | Human | 1 | name , alternate_id |
| 402488880 | CV3181996 | single nucleotide variant | NM_172245.4(CSF2RA):c.343+19G>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003876665] | likely benign | Y | 1288661 | 1288661 | Human | 1 | name , alternate_id |
| 597961819 | CV3756715 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+20C>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005081837] | likely benign | X | 1285940 | 1285940 | Human | 1 | name , alternate_id |
| 597961819 | CV3756715 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+20C>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005081837] | likely benign | Y | 1285940 | 1285940 | Human | 1 | name , alternate_id |
| 597946683 | CV3790509 | single nucleotide variant | NM_172245.4(CSF2RA):c.473+11A>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005134917] | likely benign | X | 1288899 | 1288899 | Human | 1 | name , alternate_id |
| 597946683 | CV3790509 | single nucleotide variant | NM_172245.4(CSF2RA):c.473+11A>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005134917] | likely benign | Y | 1288899 | 1288899 | Human | 1 | name , alternate_id |
| 597904222 | CV3793244 | single nucleotide variant | NM_172245.4(CSF2RA):c.946+17G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005153212] | likely benign | X | 1300643 | 1300643 | Human | 1 | name , alternate_id |
| 597904222 | CV3793244 | single nucleotide variant | NM_172245.4(CSF2RA):c.946+17G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005153212] | likely benign | Y | 1300643 | 1300643 | Human | 1 | name , alternate_id |
| 597887272 | CV3839032 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+14C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005179117] | likely benign | X | 1294475 | 1294475 | Human | 1 | name , alternate_id |
| 597887272 | CV3839032 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+14C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005179117] | likely benign | Y | 1294475 | 1294475 | Human | 1 | name , alternate_id |
| 597950536 | CV3846945 | single nucleotide variant | NM_172245.4(CSF2RA):c.474-19G>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005190116] | likely benign | X | 1290318 | 1290318 | Human | 1 | name , alternate_id |
| 597950536 | CV3846945 | single nucleotide variant | NM_172245.4(CSF2RA):c.474-19G>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005190116] | likely benign | Y | 1290318 | 1290318 | Human | 1 | name , alternate_id |
| 13618605 | CV535222 | single nucleotide variant | NM_172245.4(CSF2RA):c.1125+8G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646178]|not provided [RCV003437364] | likely benign | X | 1305535 | 1305535 | Human | 1 | name , alternate_id |
| 13618605 | CV535222 | single nucleotide variant | NM_172245.4(CSF2RA):c.1125+8G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646178]|not provided [RCV003437364] | likely benign | Y | 1305535 | 1305535 | Human | 1 | name , alternate_id |
| 15173059 | CV780238 | single nucleotide variant | NM_172245.4(CSF2RA):c.1044-6T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000972539] | likely benign | X | 1305440 | 1305440 | Human | 1 | name , alternate_id |
| 15173059 | CV780238 | single nucleotide variant | NM_172245.4(CSF2RA):c.1044-6T>C | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000972539] | likely benign | Y | 1305440 | 1305440 | Human | 1 | name , alternate_id |
| 38493389 | CV960992 | single nucleotide variant | NM_172245.4(CSF2RA):c.1044-3C>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001240653] | uncertain significance | X | 1305443 | 1305443 | Human | 1 | name , alternate_id |
| 38493389 | CV960992 | single nucleotide variant | NM_172245.4(CSF2RA):c.1044-3C>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001240653] | uncertain significance | Y | 1305443 | 1305443 | Human | 1 | name , alternate_id |
| 127293641 | CV1159943 | single nucleotide variant | NM_172245.4(CSF2RA):c.1125+17G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001511411]|not provided [RCV004714222] | benign | X | 1305544 | 1305544 | Human | 1 | name , alternate_id |
| 127293641 | CV1159943 | single nucleotide variant | NM_172245.4(CSF2RA):c.1125+17G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001511411]|not provided [RCV004714222] | benign | Y | 1305544 | 1305544 | Human | 1 | name , alternate_id |
| 150335412 | CV1173614 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+151A>G | not provided [RCV001540550] | benign | X | 1286071 | 1286071 | Human | | name |
| 150335412 | CV1173614 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+151A>G | not provided [RCV001540550] | benign | Y | 1286071 | 1286071 | Human | | name |
| 150334569 | CV1173615 | single nucleotide variant | NM_172245.4(CSF2RA):c.473+245A>G | not provided [RCV001540117] | benign | X | 1289133 | 1289133 | Human | | name |
| 150334569 | CV1173615 | single nucleotide variant | NM_172245.4(CSF2RA):c.473+245A>G | not provided [RCV001540117] | benign | Y | 1289133 | 1289133 | Human | | name |
| 150406759 | CV1178810 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-313G>A | not provided [RCV001545360] | likely benign | X | 1288206 | 1288206 | Human | | name |
| 150406759 | CV1178810 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-313G>A | not provided [RCV001545360] | likely benign | Y | 1288206 | 1288206 | Human | | name |
| 150418053 | CV1182175 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-147C>G | not provided [RCV001550430] | likely benign | X | 1294181 | 1294181 | Human | | name |
| 150418053 | CV1182175 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-147C>G | not provided [RCV001550430] | likely benign | Y | 1294181 | 1294181 | Human | | name |
| 150425920 | CV1185871 | single nucleotide variant | NM_172245.4(CSF2RA):c.946+106C>T | not provided [RCV001558661] | likely benign | X | 1300732 | 1300732 | Human | | name |
| 150425920 | CV1185871 | single nucleotide variant | NM_172245.4(CSF2RA):c.946+106C>T | not provided [RCV001558661] | likely benign | Y | 1300732 | 1300732 | Human | | name |
| 150428616 | CV1189177 | single nucleotide variant | NM_172245.4(CSF2RA):c.1126-37G>A | not provided [RCV001562489] | likely benign | X | 1309365 | 1309365 | Human | | name |
| 150428616 | CV1189177 | single nucleotide variant | NM_172245.4(CSF2RA):c.1126-37G>A | not provided [RCV001562489] | likely benign | Y | 1309365 | 1309365 | Human | | name |
| 150504969 | CV1211504 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-110A>G | not provided [RCV001595669] | benign | X | 1288409 | 1288409 | Human | | name |
| 150504969 | CV1211504 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-110A>G | not provided [RCV001595669] | benign | Y | 1288409 | 1288409 | Human | | name |
| 150503695 | CV1212534 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+118T>C | not provided [RCV001595409] | benign | X | 1286038 | 1286038 | Human | | name |
| 150503695 | CV1212534 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+118T>C | not provided [RCV001595409] | benign | Y | 1286038 | 1286038 | Human | | name |
| 150505516 | CV1213547 | single nucleotide variant | NM_172245.4(CSF2RA):c.473+289G>A | not provided [RCV001595803] | benign | X | 1289177 | 1289177 | Human | | name |
| 150505516 | CV1213547 | single nucleotide variant | NM_172245.4(CSF2RA):c.473+289G>A | not provided [RCV001595803] | benign | Y | 1289177 | 1289177 | Human | | name |
| 150440755 | CV1220209 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-112G>A | not provided [RCV001610192] | benign | X | 1288407 | 1288407 | Human | | name |
| 150440755 | CV1220209 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-112G>A | not provided [RCV001610192] | benign | Y | 1288407 | 1288407 | Human | | name |
| 150435739 | CV1221729 | single nucleotide variant | NM_172245.4(CSF2RA):c.473+105G>T | not provided [RCV001609418] | benign | X | 1288993 | 1288993 | Human | | name |
| 150435739 | CV1221729 | single nucleotide variant | NM_172245.4(CSF2RA):c.473+105G>T | not provided [RCV001609418] | benign | Y | 1288993 | 1288993 | Human | | name |
| 150505386 | CV1222878 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-311A>G | not provided [RCV001621812] | benign | X | 1288208 | 1288208 | Human | | name |
| 150505386 | CV1222878 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-311A>G | not provided [RCV001621812] | benign | Y | 1288208 | 1288208 | Human | | name |
| 150502753 | CV1223297 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-222C>T | not provided [RCV001621231] | benign | X | 1288297 | 1288297 | Human | | name |
| 150502753 | CV1223297 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-222C>T | not provided [RCV001621231] | benign | Y | 1288297 | 1288297 | Human | | name |
| 150483282 | CV1223564 | single nucleotide variant | NM_172245.4(CSF2RA):c.1043+31T>C | not provided [RCV001617278] | benign | X | 1304050 | 1304050 | Human | | name |
| 150483282 | CV1223564 | single nucleotide variant | NM_172245.4(CSF2RA):c.1043+31T>C | not provided [RCV001617278] | benign | Y | 1304050 | 1304050 | Human | | name |
| 150501145 | CV1223638 | single nucleotide variant | NM_172245.4(CSF2RA):c.810+186T>C | not provided [RCV001620759] | benign | X | 1295642 | 1295642 | Human | | name |
| 150501145 | CV1223638 | single nucleotide variant | NM_172245.4(CSF2RA):c.810+186T>C | not provided [RCV001620759] | benign | Y | 1295642 | 1295642 | Human | | name |
| 150503439 | CV1223750 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-106C>T | not provided [RCV001621399] | benign | X | 1288413 | 1288413 | Human | | name |
| 150503439 | CV1223750 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-106C>T | not provided [RCV001621399] | benign | Y | 1288413 | 1288413 | Human | | name |
| 150499894 | CV1224680 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-240T>C | not provided [RCV001620512] | benign | X | 1288279 | 1288279 | Human | | name |
| 150499894 | CV1224680 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-240T>C | not provided [RCV001620512] | benign | Y | 1288279 | 1288279 | Human | | name |
| 150517517 | CV1226968 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-231T>C | not provided [RCV001640064] | benign | X | 1294097 | 1294097 | Human | | name |
| 150517517 | CV1226968 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-231T>C | not provided [RCV001640064] | benign | Y | 1294097 | 1294097 | Human | | name |
| 150430665 | CV1230992 | single nucleotide variant | NM_172245.4(CSF2RA):c.811-135A>G | not provided [RCV001641541] | benign | X | 1300356 | 1300356 | Human | | name |
| 150430665 | CV1230992 | single nucleotide variant | NM_172245.4(CSF2RA):c.811-135A>G | not provided [RCV001641541] | benign | Y | 1300356 | 1300356 | Human | | name |
| 150443843 | CV1232931 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+123T>C | not provided [RCV001645603] | benign | X | 1286043 | 1286043 | Human | | name |
| 150443843 | CV1232931 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+123T>C | not provided [RCV001645603] | benign | Y | 1286043 | 1286043 | Human | | name |
| 150480578 | CV1239608 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-113T>C | not provided [RCV001652771] | benign | X | 1288406 | 1288406 | Human | | name |
| 150480578 | CV1239608 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-113T>C | not provided [RCV001652771] | benign | Y | 1288406 | 1288406 | Human | | name |
| 150502536 | CV1241585 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-121C>G | not provided [RCV001657176] | benign | X | 1288398 | 1288398 | Human | | name |
| 150502536 | CV1241585 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-121C>G | not provided [RCV001657176] | benign | Y | 1288398 | 1288398 | Human | | name |
| 150456955 | CV1248723 | single nucleotide variant | NM_172245.4(CSF2RA):c.473+123C>G | not provided [RCV001668899] | benign | X | 1289011 | 1289011 | Human | | name |
| 150456955 | CV1248723 | single nucleotide variant | NM_172245.4(CSF2RA):c.473+123C>G | not provided [RCV001668899] | benign | Y | 1289011 | 1289011 | Human | | name |
| 150485373 | CV1250214 | single nucleotide variant | NM_172245.4(CSF2RA):c.946+109C>G | not provided [RCV001673827] | benign | X | 1300735 | 1300735 | Human | | name |
| 150485373 | CV1250214 | single nucleotide variant | NM_172245.4(CSF2RA):c.946+109C>G | not provided [RCV001673827] | benign | Y | 1300735 | 1300735 | Human | | name |
| 150447276 | CV1250805 | single nucleotide variant | NM_172245.4(CSF2RA):c.474-144G>T | not provided [RCV001667310] | benign | X | 1290193 | 1290193 | Human | | name |
| 150447276 | CV1250805 | single nucleotide variant | NM_172245.4(CSF2RA):c.474-144G>T | not provided [RCV001667310] | benign | Y | 1290193 | 1290193 | Human | | name |
| 150490669 | CV1251067 | single nucleotide variant | NM_172245.4(CSF2RA):c.781-265G>A | not provided [RCV001674734] | benign | X | 1295162 | 1295162 | Human | | name |
| 150490669 | CV1251067 | single nucleotide variant | NM_172245.4(CSF2RA):c.781-265G>A | not provided [RCV001674734] | benign | Y | 1295162 | 1295162 | Human | | name |
| 150476973 | CV1251945 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+103C>G | not provided [RCV001672144] | benign | X | 1294564 | 1294564 | Human | | name |
| 150476973 | CV1251945 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+103C>G | not provided [RCV001672144] | benign | Y | 1294564 | 1294564 | Human | | name |
| 150460961 | CV1253182 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+135G>A | not provided [RCV001669511] | benign | X | 1294596 | 1294596 | Human | | name |
| 150460961 | CV1253182 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+135G>A | not provided [RCV001669511] | benign | Y | 1294596 | 1294596 | Human | | name |
| 150452799 | CV1255012 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-244C>A | not provided [RCV001668071] | benign | X | 1294084 | 1294084 | Human | | name |
| 150452799 | CV1255012 | single nucleotide variant | NM_172245.4(CSF2RA):c.647-244C>A | not provided [RCV001668071] | benign | Y | 1294084 | 1294084 | Human | | name |
| 150504943 | CV1255344 | single nucleotide variant | NM_172245.4(CSF2RA):c.810+230A>G | not provided [RCV001677791] | benign | X | 1295686 | 1295686 | Human | | name |
| 150504943 | CV1255344 | single nucleotide variant | NM_172245.4(CSF2RA):c.810+230A>G | not provided [RCV001677791] | benign | Y | 1295686 | 1295686 | Human | | name |
| 150466719 | CV1255786 | single nucleotide variant | NM_172245.4(CSF2RA):c.781-255C>T | not provided [RCV001670420] | benign | X | 1295172 | 1295172 | Human | | name |
| 150466719 | CV1255786 | single nucleotide variant | NM_172245.4(CSF2RA):c.781-255C>T | not provided [RCV001670420] | benign | Y | 1295172 | 1295172 | Human | | name |
| 150496945 | CV1256623 | single nucleotide variant | NM_172245.4(CSF2RA):c.810+147A>T | not provided [RCV001676115] | benign | X | 1295603 | 1295603 | Human | | name |
| 150496945 | CV1256623 | single nucleotide variant | NM_172245.4(CSF2RA):c.810+147A>T | not provided [RCV001676115] | benign | Y | 1295603 | 1295603 | Human | | name |
| 150506258 | CV1257294 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-245G>C | not provided [RCV001678132] | benign | X | 1288274 | 1288274 | Human | | name |
| 150506258 | CV1257294 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-245G>C | not provided [RCV001678132] | benign | Y | 1288274 | 1288274 | Human | | name |
| 150506315 | CV1257308 | single nucleotide variant | NM_172245.4(CSF2RA):c.-26-137A>G | not provided [RCV001678146] | benign | X | 1282541 | 1282541 | Human | | name |
| 150506315 | CV1257308 | single nucleotide variant | NM_172245.4(CSF2RA):c.-26-137A>G | not provided [RCV001678146] | benign | Y | 1282541 | 1282541 | Human | | name |
| 150492574 | CV1257385 | single nucleotide variant | NM_172245.4(CSF2RA):c.473+158C>T | not provided [RCV001675058] | benign | X | 1289046 | 1289046 | Human | | name |
| 150492574 | CV1257385 | single nucleotide variant | NM_172245.4(CSF2RA):c.473+158C>T | not provided [RCV001675058] | benign | Y | 1289046 | 1289046 | Human | | name |
| 150479826 | CV1258317 | single nucleotide variant | NM_172245.4(CSF2RA):c.-26-193G>A | not provided [RCV001685736] | benign | X | 1282485 | 1282485 | Human | | name |
| 150479826 | CV1258317 | single nucleotide variant | NM_172245.4(CSF2RA):c.-26-193G>A | not provided [RCV001685736] | benign | Y | 1282485 | 1282485 | Human | | name |
| 150468898 | CV1259567 | single nucleotide variant | NM_172245.4(CSF2RA):c.474-143T>G | not provided [RCV001683867] | benign | X | 1290194 | 1290194 | Human | | name |
| 150468898 | CV1259567 | single nucleotide variant | NM_172245.4(CSF2RA):c.474-143T>G | not provided [RCV001683867] | benign | Y | 1290194 | 1290194 | Human | | name |
| 150469512 | CV1259671 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-139G>A | not provided [RCV001683972] | benign | X | 1288380 | 1288380 | Human | | name |
| 150469512 | CV1259671 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-139G>A | not provided [RCV001683972] | benign | Y | 1288380 | 1288380 | Human | | name |
| 150486184 | CV1262539 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-131G>A | not provided [RCV001686936] | benign | X | 1288388 | 1288388 | Human | | name |
| 150486184 | CV1262539 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-131G>A | not provided [RCV001686936] | benign | Y | 1288388 | 1288388 | Human | | name |
| 150484037 | CV1263094 | single nucleotide variant | NM_172245.4(CSF2RA):c.1044-74G>A | not provided [RCV001686494] | benign | X | 1305372 | 1305372 | Human | | name |
| 150484037 | CV1263094 | single nucleotide variant | NM_172245.4(CSF2RA):c.1044-74G>A | not provided [RCV001686494] | benign | Y | 1305372 | 1305372 | Human | | name |
| 150439836 | CV1265025 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-273C>G | not provided [RCV001679018] | benign | X | 1288246 | 1288246 | Human | | name |
| 150439836 | CV1265025 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-273C>G | not provided [RCV001679018] | benign | Y | 1288246 | 1288246 | Human | | name |
| 150498755 | CV1270706 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+128G>A | not provided [RCV001689254] | benign | X | 1286048 | 1286048 | Human | | name |
| 150498755 | CV1270706 | single nucleotide variant | NM_172245.4(CSF2RA):c.219+128G>A | not provided [RCV001689254] | benign | Y | 1286048 | 1286048 | Human | | name |
| 150473684 | CV1272211 | single nucleotide variant | NM_172245.4(CSF2RA):c.947-251G>A | not provided [RCV001695749] | benign | X | 1303672 | 1303672 | Human | | name |
| 150473684 | CV1272211 | single nucleotide variant | NM_172245.4(CSF2RA):c.947-251G>A | not provided [RCV001695749] | benign | Y | 1303672 | 1303672 | Human | | name |
| 150449349 | CV1273621 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+323C>G | not provided [RCV001691721] | benign | X | 1294784 | 1294784 | Human | | name |
| 150449349 | CV1273621 | single nucleotide variant | NM_172245.4(CSF2RA):c.780+323C>G | not provided [RCV001691721] | benign | Y | 1294784 | 1294784 | Human | | name |
| 150484829 | CV1274062 | single nucleotide variant | NM_172245.4(CSF2RA):c.810+139G>A | not provided [RCV001698578] | benign | X | 1295595 | 1295595 | Human | | name |
| 150484829 | CV1274062 | single nucleotide variant | NM_172245.4(CSF2RA):c.810+139G>A | not provided [RCV001698578] | benign | Y | 1295595 | 1295595 | Human | | name |
| 150457950 | CV1278699 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-221A>G | not provided [RCV001709315] | benign | X | 1288298 | 1288298 | Human | | name |
| 150457950 | CV1278699 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-221A>G | not provided [RCV001709315] | benign | Y | 1288298 | 1288298 | Human | | name |
| 150442226 | CV1287690 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-123T>C | not provided [RCV001725410] | benign | X | 1288396 | 1288396 | Human | | name |
| 150442226 | CV1287690 | single nucleotide variant | NM_172245.4(CSF2RA):c.220-123T>C | not provided [RCV001725410] | benign | Y | 1288396 | 1288396 | Human | | name |
| 152033200 | CV1568018 | single nucleotide variant | NM_172245.4(CSF2RA):c.1044-20A>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002205129] | likely benign | X | 1305426 | 1305426 | Human | 1 | name , alternate_id |
| 152033200 | CV1568018 | single nucleotide variant | NM_172245.4(CSF2RA):c.1044-20A>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002205129] | likely benign | Y | 1305426 | 1305426 | Human | 1 | name , alternate_id |
| 156175718 | CV1927657 | single nucleotide variant | NM_172245.4(CSF2RA):c.1125+16C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002624865] | likely benign | X | 1305543 | 1305543 | Human | 1 | name , alternate_id |
| 156175718 | CV1927657 | single nucleotide variant | NM_172245.4(CSF2RA):c.1125+16C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002624865] | likely benign | Y | 1305543 | 1305543 | Human | 1 | name , alternate_id |
| 156008421 | CV1981432 | single nucleotide variant | NM_172245.4(CSF2RA):c.1043+19G>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002618777] | likely benign | X | 1304038 | 1304038 | Human | 1 | name , alternate_id |
| 156008421 | CV1981432 | single nucleotide variant | NM_172245.4(CSF2RA):c.1043+19G>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002618777] | likely benign | Y | 1304038 | 1304038 | Human | 1 | name , alternate_id |
| 156091147 | CV2102673 | single nucleotide variant | NM_172245.4(CSF2RA):c.1125+20G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002913041] | likely benign | X | 1305547 | 1305547 | Human | 1 | name , alternate_id |
| 156091147 | CV2102673 | single nucleotide variant | NM_172245.4(CSF2RA):c.1125+20G>A | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002913041] | likely benign | Y | 1305547 | 1305547 | Human | 1 | name , alternate_id |
| 405238946 | CV3165800 | single nucleotide variant | NM_172245.4(CSF2RA):c.1126-15C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003866812] | likely benign | X | 1309387 | 1309387 | Human | 1 | name , alternate_id |
| 405238946 | CV3165800 | single nucleotide variant | NM_172245.4(CSF2RA):c.1126-15C>T | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003866812] | likely benign | Y | 1309387 | 1309387 | Human | 1 | name , alternate_id |
| 597968281 | CV3853419 | single nucleotide variant | NM_172245.4(CSF2RA):c.1126-14C>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005195061] | likely benign | Y | 1309388 | 1309388 | Human | 1 | name , alternate_id |
| 597968281 | CV3853419 | single nucleotide variant | NM_172245.4(CSF2RA):c.1126-14C>G | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005195061] | likely benign | X | 1309388 | 1309388 | Human | 1 | name , alternate_id |
| 150415672 | CV1178811 | single nucleotide variant | NM_172245.4(CSF2RA):c.1126-122A>G | not provided [RCV001548682] | likely benign | X | 1309280 | 1309280 | Human | | name |
| 150415672 | CV1178811 | single nucleotide variant | NM_172245.4(CSF2RA):c.1126-122A>G | not provided [RCV001548682] | likely benign | Y | 1309280 | 1309280 | Human | | name |
| 150511396 | CV1229451 | single nucleotide variant | NM_172245.4(CSF2RA):c.1126-215C>T | not provided [RCV001637380] | benign | X | 1309187 | 1309187 | Human | | name |
| 150511396 | CV1229451 | single nucleotide variant | NM_172245.4(CSF2RA):c.1126-215C>T | not provided [RCV001637380] | benign | Y | 1309187 | 1309187 | Human | | name |
| 150454381 | CV1232260 | single nucleotide variant | NM_172245.4(CSF2RA):c.1125+415T>C | not provided [RCV001648273] | benign | X | 1305942 | 1305942 | Human | | name |
| 150454381 | CV1232260 | single nucleotide variant | NM_172245.4(CSF2RA):c.1125+415T>C | not provided [RCV001648273] | benign | Y | 1305942 | 1305942 | Human | | name |
| 150509573 | CV1247344 | single nucleotide variant | NM_172245.4(CSF2RA):c.1126-219C>T | not provided [RCV001659371] | benign | X | 1309183 | 1309183 | Human | | name |
| 150509573 | CV1247344 | single nucleotide variant | NM_172245.4(CSF2RA):c.1126-219C>T | not provided [RCV001659371] | benign | Y | 1309183 | 1309183 | Human | | name |
| 150505087 | CV1255380 | single nucleotide variant | NM_172245.4(CSF2RA):c.1126-149T>C | not provided [RCV001677827] | benign | X | 1309253 | 1309253 | Human | | name |
| 150505087 | CV1255380 | single nucleotide variant | NM_172245.4(CSF2RA):c.1126-149T>C | not provided [RCV001677827] | benign | Y | 1309253 | 1309253 | Human | | name |
| 150482897 | CV1261694 | single nucleotide variant | NM_172245.4(CSF2RA):c.1044-232A>G | not provided [RCV001686298] | benign | X | 1305214 | 1305214 | Human | | name |
| 150482897 | CV1261694 | single nucleotide variant | NM_172245.4(CSF2RA):c.1044-232A>G | not provided [RCV001686298] | benign | Y | 1305214 | 1305214 | Human | | name |
| 150466256 | CV1277374 | single nucleotide variant | NM_172245.4(CSF2RA):c.1043+127T>C | not provided [RCV001710669] | benign | X | 1304146 | 1304146 | Human | | name |
| 150466256 | CV1277374 | single nucleotide variant | NM_172245.4(CSF2RA):c.1043+127T>C | not provided [RCV001710669] | benign | Y | 1304146 | 1304146 | Human | | name |
| 150510141 | CV1286697 | single nucleotide variant | NM_172245.4(CSF2RA):c.1126-155C>T | not provided [RCV001720932] | benign | X | 1309247 | 1309247 | Human | | name |
| 150510141 | CV1286697 | single nucleotide variant | NM_172245.4(CSF2RA):c.1126-155C>T | not provided [RCV001720932] | benign | Y | 1309247 | 1309247 | Human | | name |
| 9689853 | CV178253 | single nucleotide variant | NM_172245.4(CSF2RA):c.1125+128G>A | not provided [RCV001668314]|not specified [RCV000155478] | benign | X | 1305655 | 1305655 | Human | | name |
| 9689853 | CV178253 | single nucleotide variant | NM_172245.4(CSF2RA):c.1125+128G>A | not provided [RCV001668314]|not specified [RCV000155478] | benign | Y | 1305655 | 1305655 | Human | | name |
| 408378600 | CV3514545 | single nucleotide variant | NM_172245.4(CSF2RA):c.1125+172G>T | CSF2RA-related disorder [RCV004752348] | likely benign | X | 1305699 | 1305699 | Human | | name , trait , alternate_id |
| 408378600 | CV3514545 | single nucleotide variant | NM_172245.4(CSF2RA):c.1125+172G>T | CSF2RA-related disorder [RCV004752348] | likely benign | Y | 1305699 | 1305699 | Human | | name , trait , alternate_id |
| 13465008 | CV472234 | duplication | NM_172245.4(CSF2RA):c.774_780+10dup | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005208581]|not specified [RCV000604731] | benign|likely benign|uncertain significance | X | 1294453 | 1294454 | Human | 1 | name , alternate_id |
| 13465008 | CV472234 | duplication | NM_172245.4(CSF2RA):c.774_780+10dup | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005208581]|not specified [RCV000604731] | benign|likely benign|uncertain significance | Y | 1294453 | 1294454 | Human | 1 | name , alternate_id |
| 150490349 | CV1239099 | deletion | NM_172245.4(CSF2RA):c.77-58_77-46del | not provided [RCV001654667] | benign | X | 1285720 | 1285732 | Human | | name |
| 150490349 | CV1239099 | deletion | NM_172245.4(CSF2RA):c.77-58_77-46del | not provided [RCV001654667] | benign | Y | 1285720 | 1285732 | Human | | name |
| 401905026 | CV2823729 | single nucleotide variant | NM_001379159.1(CSF2RA):c.*39-2557C>T | not provided [RCV003440863] | likely benign | X | 1322471 | 1322471 | Human | | name |
| 401905026 | CV2823729 | single nucleotide variant | NM_001379159.1(CSF2RA):c.*39-2557C>T | not provided [RCV003440863] | likely benign | Y | 1322471 | 1322471 | Human | | name |
| 127324973 | CV1151076 | single nucleotide variant | NM_172245.4(CSF2RA):c.15G>T (p.Val5=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001485640] | likely benign | X | 1282718 | 1282718 | Human | 1 | name , alternate_id |
| 127324973 | CV1151076 | single nucleotide variant | NM_172245.4(CSF2RA):c.15G>T (p.Val5=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001485640] | likely benign | Y | 1282718 | 1282718 | Human | 1 | name , alternate_id |
| 150506420 | CV1257335 | microsatellite | NM_172245.4(CSF2RA):c.474-309TGTTT[2] | not provided [RCV001678174] | benign | X | 1290028 | 1290032 | Human | | name |
| 150506420 | CV1257335 | microsatellite | NM_172245.4(CSF2RA):c.474-309TGTTT[2] | not provided [RCV001678174] | benign | Y | 1290028 | 1290032 | Human | | name |
| 150448932 | CV1270529 | microsatellite | NM_172245.4(CSF2RA):c.811-261AAATA[2] | not provided [RCV001691667] | benign | X | 1300230 | 1300234 | Human | | name |
| 150448932 | CV1270529 | microsatellite | NM_172245.4(CSF2RA):c.811-261AAATA[2] | not provided [RCV001691667] | benign | Y | 1300230 | 1300234 | Human | | name |
| 152073576 | CV1660348 | single nucleotide variant | NM_172245.4(CSF2RA):c.27G>A (p.Leu9=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002169607] | likely benign | X | 1282730 | 1282730 | Human | 1 | name , alternate_id |
| 152073576 | CV1660348 | single nucleotide variant | NM_172245.4(CSF2RA):c.27G>A (p.Leu9=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002169607] | likely benign | Y | 1282730 | 1282730 | Human | 1 | name , alternate_id |
| 156406278 | CV1894849 | single nucleotide variant | NM_172245.4(CSF2RA):c.25C>T (p.Leu9=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003070301] | likely benign | X | 1282728 | 1282728 | Human | 1 | name , alternate_id |
| 156406278 | CV1894849 | single nucleotide variant | NM_172245.4(CSF2RA):c.25C>T (p.Leu9=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003070301] | likely benign | Y | 1282728 | 1282728 | Human | 1 | name , alternate_id |
| 402514036 | CV2910978 | single nucleotide variant | NM_172245.4(CSF2RA):c.12G>C (p.Leu4=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003510125] | likely benign | X | 1282715 | 1282715 | Human | 1 | name , alternate_id |
| 402514036 | CV2910978 | single nucleotide variant | NM_172245.4(CSF2RA):c.12G>C (p.Leu4=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003510125] | likely benign | Y | 1282715 | 1282715 | Human | 1 | name , alternate_id |
| 597880722 | CV3744851 | single nucleotide variant | NM_172245.4(CSF2RA):c.21C>T (p.Ser7=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005069876] | likely benign | X | 1282724 | 1282724 | Human | 1 | name , alternate_id |
| 597880722 | CV3744851 | single nucleotide variant | NM_172245.4(CSF2RA):c.21C>T (p.Ser7=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005069876] | likely benign | Y | 1282724 | 1282724 | Human | 1 | name , alternate_id |
| 127274548 | CV1108658 | single nucleotide variant | NM_172245.4(CSF2RA):c.57C>T (p.Leu19=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001431987] | likely benign | X | 1282760 | 1282760 | Human | 1 | name , alternate_id |
| 127274548 | CV1108658 | single nucleotide variant | NM_172245.4(CSF2RA):c.57C>T (p.Leu19=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001431987] | likely benign | Y | 1282760 | 1282760 | Human | 1 | name , alternate_id |
| 127304923 | CV1151077 | single nucleotide variant | NM_172245.4(CSF2RA):c.87A>G (p.Thr29=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001499791] | likely benign | X | 1285788 | 1285788 | Human | 1 | name , alternate_id |
| 127304923 | CV1151077 | single nucleotide variant | NM_172245.4(CSF2RA):c.87A>G (p.Thr29=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001499791] | likely benign | Y | 1285788 | 1285788 | Human | 1 | name , alternate_id |
| 127294400 | CV1159940 | deletion | NM_172245.4(CSF2RA):c.473+16_473+17del | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001511735]|not provided [RCV001692399] | benign | X | 1288904 | 1288905 | Human | 1 | name , alternate_id |
| 127294400 | CV1159940 | deletion | NM_172245.4(CSF2RA):c.473+16_473+17del | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001511735]|not provided [RCV001692399] | benign | Y | 1288904 | 1288905 | Human | 1 | name , alternate_id |
| 150484422 | CV1250018 | microsatellite | NM_172245.4(CSF2RA):c.77-140_77-134del | not provided [RCV001673631] | benign | X | 1285629 | 1285635 | Human | | name |
| 150484422 | CV1250018 | microsatellite | NM_172245.4(CSF2RA):c.77-140_77-134del | not provided [RCV001673631] | benign | Y | 1285629 | 1285635 | Human | | name |
| 152073302 | CV1615403 | microsatellite | NM_172245.4(CSF2RA):c.473+19_473+20del | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002091885] | likely benign | X | 1288905 | 1288906 | Human | | name , alternate_id |
| 152073302 | CV1615403 | microsatellite | NM_172245.4(CSF2RA):c.473+19_473+20del | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002091885] | likely benign | Y | 1288905 | 1288906 | Human | | name , alternate_id |
| 156020627 | CV2081444 | deletion | NM_172245.4(CSF2RA):c.473+14_473+15del | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002866587] | likely benign | X | 1288901 | 1288902 | Human | 1 | name , alternate_id |
| 156020627 | CV2081444 | deletion | NM_172245.4(CSF2RA):c.473+14_473+15del | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002866587] | likely benign | Y | 1288901 | 1288902 | Human | 1 | name , alternate_id |
| 597891703 | CV3809718 | single nucleotide variant | NM_172245.4(CSF2RA):c.99C>G (p.Ala33=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005151437] | likely benign | X | 1285800 | 1285800 | Human | 1 | name , alternate_id |
| 597891703 | CV3809718 | single nucleotide variant | NM_172245.4(CSF2RA):c.99C>G (p.Ala33=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005151437] | likely benign | Y | 1285800 | 1285800 | Human | 1 | name , alternate_id |
| 38486807 | CV939704 | single nucleotide variant | NM_172245.4(CSF2RA):c.75G>A (p.Ser25=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001209053] | uncertain significance | X | 1282778 | 1282778 | Human | 1 | name , alternate_id |
| 38486807 | CV939704 | single nucleotide variant | NM_172245.4(CSF2RA):c.75G>A (p.Ser25=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001209053] | uncertain significance | Y | 1282778 | 1282778 | Human | 1 | name , alternate_id |
| 127237977 | CV1086956 | single nucleotide variant | NM_172245.4(CSF2RA):c.156A>G (p.Gln52=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001392400] | likely benign | X | 1285857 | 1285857 | Human | 1 | name , alternate_id |
| 127237977 | CV1086956 | single nucleotide variant | NM_172245.4(CSF2RA):c.156A>G (p.Gln52=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001392400] | likely benign | Y | 1285857 | 1285857 | Human | 1 | name , alternate_id |
| 127284007 | CV1108660 | single nucleotide variant | NM_172245.4(CSF2RA):c.273A>C (p.Gly91=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001448914] | likely benign | X | 1288572 | 1288572 | Human | 1 | name , alternate_id |
| 127284007 | CV1108660 | single nucleotide variant | NM_172245.4(CSF2RA):c.273A>C (p.Gly91=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001448914] | likely benign | Y | 1288572 | 1288572 | Human | 1 | name , alternate_id |
| 127333239 | CV1151078 | single nucleotide variant | NM_172245.4(CSF2RA):c.216C>G (p.Pro72=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001490040] | likely benign | X | 1285917 | 1285917 | Human | 1 | name , alternate_id |
| 127333239 | CV1151078 | single nucleotide variant | NM_172245.4(CSF2RA):c.216C>G (p.Pro72=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001490040] | likely benign | Y | 1285917 | 1285917 | Human | 1 | name , alternate_id |
| 151877978 | CV1383378 | single nucleotide variant | NM_172245.4(CSF2RA):c.14T>C (p.Val5Ala) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001907303] | uncertain significance | X | 1282717 | 1282717 | Human | 1 | name , alternate_id |
| 151877978 | CV1383378 | single nucleotide variant | NM_172245.4(CSF2RA):c.14T>C (p.Val5Ala) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001907303] | uncertain significance | Y | 1282717 | 1282717 | Human | 1 | name , alternate_id |
| 151739609 | CV1390230 | single nucleotide variant | NM_172245.4(CSF2RA):c.20G>A (p.Ser7Asn) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001893137] | uncertain significance | X | 1282723 | 1282723 | Human | 1 | name , alternate_id |
| 151739609 | CV1390230 | single nucleotide variant | NM_172245.4(CSF2RA):c.20G>A (p.Ser7Asn) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001893137] | uncertain significance | Y | 1282723 | 1282723 | Human | 1 | name , alternate_id |
| 152090117 | CV1550557 | single nucleotide variant | NM_172245.4(CSF2RA):c.132G>T (p.Thr44=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002131939] | likely benign | X | 1285833 | 1285833 | Human | 1 | name , alternate_id |
| 152090117 | CV1550557 | single nucleotide variant | NM_172245.4(CSF2RA):c.132G>T (p.Thr44=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002131939] | likely benign | Y | 1285833 | 1285833 | Human | 1 | name , alternate_id |
| 152139691 | CV1608293 | single nucleotide variant | NM_172245.4(CSF2RA):c.240G>A (p.Ser80=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002200417] | likely benign | X | 1288539 | 1288539 | Human | 1 | name , alternate_id |
| 152139691 | CV1608293 | single nucleotide variant | NM_172245.4(CSF2RA):c.240G>A (p.Ser80=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002200417] | likely benign | Y | 1288539 | 1288539 | Human | 1 | name , alternate_id |
| 152132815 | CV1630294 | single nucleotide variant | NM_172245.4(CSF2RA):c.240G>C (p.Ser80=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002177025] | likely benign | X | 1288539 | 1288539 | Human | 1 | name , alternate_id |
| 152132815 | CV1630294 | single nucleotide variant | NM_172245.4(CSF2RA):c.240G>C (p.Ser80=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002177025] | likely benign | Y | 1288539 | 1288539 | Human | 1 | name , alternate_id |
| 152115565 | CV1654106 | single nucleotide variant | NM_172245.4(CSF2RA):c.207C>T (p.Val69=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002097431] | likely benign | X | 1285908 | 1285908 | Human | 1 | name , alternate_id |
| 152115565 | CV1654106 | single nucleotide variant | NM_172245.4(CSF2RA):c.207C>T (p.Val69=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002097431] | likely benign | Y | 1285908 | 1285908 | Human | 1 | name , alternate_id |
| 152050021 | CV1656347 | single nucleotide variant | NM_172245.4(CSF2RA):c.183C>T (p.Phe61=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002207402] | likely benign | X | 1285884 | 1285884 | Human | 1 | name , alternate_id |
| 152050021 | CV1656347 | single nucleotide variant | NM_172245.4(CSF2RA):c.183C>T (p.Phe61=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002207402] | likely benign | Y | 1285884 | 1285884 | Human | 1 | name , alternate_id |
| 156048313 | CV2006596 | single nucleotide variant | NM_172245.4(CSF2RA):c.231C>T (p.Asn77=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002659281] | likely benign | X | 1288530 | 1288530 | Human | 1 | name , alternate_id |
| 156048313 | CV2006596 | single nucleotide variant | NM_172245.4(CSF2RA):c.231C>T (p.Asn77=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002659281] | likely benign | Y | 1288530 | 1288530 | Human | 1 | name , alternate_id |
| 156145884 | CV2188236 | single nucleotide variant | NM_172245.4(CSF2RA):c.17C>A (p.Thr6Lys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003056357] | uncertain significance | X | 1282720 | 1282720 | Human | 1 | name , alternate_id |
| 156145884 | CV2188236 | single nucleotide variant | NM_172245.4(CSF2RA):c.17C>A (p.Thr6Lys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003056357] | uncertain significance | Y | 1282720 | 1282720 | Human | 1 | name , alternate_id |
| 11093797 | CV231342 | single nucleotide variant | NM_172245.4(CSF2RA):c.279A>G (p.Thr93=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000530965]|not provided [RCV001701800]|not specified [RCV000220235] | benign|likely benign | Y | 1288578 | 1288578 | Human | 1 | name , alternate_id |
| 11093797 | CV231342 | single nucleotide variant | NM_172245.4(CSF2RA):c.279A>G (p.Thr93=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000530965]|not provided [RCV001701800]|not specified [RCV000220235] | benign|likely benign | X | 1288578 | 1288578 | Human | 1 | name , alternate_id |
| 405172541 | CV3079262 | single nucleotide variant | NM_172245.4(CSF2RA):c.291C>T (p.His97=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622259] | likely benign | X | 1288590 | 1288590 | Human | 1 | name , alternate_id |
| 405172541 | CV3079262 | single nucleotide variant | NM_172245.4(CSF2RA):c.291C>T (p.His97=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622259] | likely benign | Y | 1288590 | 1288590 | Human | 1 | name , alternate_id |
| 405245783 | CV3161801 | single nucleotide variant | NM_172245.4(CSF2RA):c.213A>G (p.Glu71=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003868514] | likely benign | X | 1285914 | 1285914 | Human | 1 | name , alternate_id |
| 405245783 | CV3161801 | single nucleotide variant | NM_172245.4(CSF2RA):c.213A>G (p.Glu71=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003868514] | likely benign | Y | 1285914 | 1285914 | Human | 1 | name , alternate_id |
| 597852220 | CV3758548 | single nucleotide variant | NM_172245.4(CSF2RA):c.285G>A (p.Glu95=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005088107] | likely benign | X | 1288584 | 1288584 | Human | 1 | name , alternate_id |
| 597852220 | CV3758548 | single nucleotide variant | NM_172245.4(CSF2RA):c.285G>A (p.Glu95=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005088107] | likely benign | Y | 1288584 | 1288584 | Human | 1 | name , alternate_id |
| 15174619 | CV774277 | single nucleotide variant | NM_172245.4(CSF2RA):c.294G>A (p.Val98=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001401555] | likely benign | X | 1288593 | 1288593 | Human | 1 | name , alternate_id |
| 15174619 | CV774277 | single nucleotide variant | NM_172245.4(CSF2RA):c.294G>A (p.Val98=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001401555] | likely benign | Y | 1288593 | 1288593 | Human | 1 | name , alternate_id |
| 38485791 | CV929842 | single nucleotide variant | NM_172245.4(CSF2RA):c.21C>A (p.Ser7Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001220008] | uncertain significance | X | 1282724 | 1282724 | Human | 1 | name , alternate_id |
| 38485791 | CV929842 | single nucleotide variant | NM_172245.4(CSF2RA):c.21C>A (p.Ser7Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001220008] | uncertain significance | Y | 1282724 | 1282724 | Human | 1 | name , alternate_id |
| 126917729 | CV1052566 | single nucleotide variant | NM_172245.4(CSF2RA):c.43C>T (p.His15Tyr) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001372240] | uncertain significance | X | 1282746 | 1282746 | Human | 1 | name , alternate_id |
| 126917729 | CV1052566 | single nucleotide variant | NM_172245.4(CSF2RA):c.43C>T (p.His15Tyr) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001372240] | uncertain significance | Y | 1282746 | 1282746 | Human | 1 | name , alternate_id |
| 127265460 | CV1065543 | single nucleotide variant | NM_172245.4(CSF2RA):c.82C>T (p.Arg28Ter) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001388457] | pathogenic | X | 1285783 | 1285783 | Human | 1 | name , alternate_id |
| 127265460 | CV1065543 | single nucleotide variant | NM_172245.4(CSF2RA):c.82C>T (p.Arg28Ter) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001388457] | pathogenic | Y | 1285783 | 1285783 | Human | 1 | name , alternate_id |
| 127268893 | CV1065544 | duplication | NM_172245.4(CSF2RA):c.140dup (p.Leu47fs) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001382275] | pathogenic | X | 1285838 | 1285839 | Human | 1 | name , alternate_id |
| 127268893 | CV1065544 | duplication | NM_172245.4(CSF2RA):c.140dup (p.Leu47fs) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001382275] | pathogenic | Y | 1285838 | 1285839 | Human | 1 | name , alternate_id |
| 127232771 | CV1086957 | single nucleotide variant | NM_172245.4(CSF2RA):c.798G>A (p.Thr266=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001413616] | likely benign | X | 1295444 | 1295444 | Human | 1 | name , alternate_id |
| 127232771 | CV1086957 | single nucleotide variant | NM_172245.4(CSF2RA):c.798G>A (p.Thr266=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001413616] | likely benign | Y | 1295444 | 1295444 | Human | 1 | name , alternate_id |
| 127277481 | CV1086958 | single nucleotide variant | NM_172245.4(CSF2RA):c.900C>T (p.Asp300=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001407856] | likely benign | X | 1300580 | 1300580 | Human | 1 | name , alternate_id |
| 127277481 | CV1086958 | single nucleotide variant | NM_172245.4(CSF2RA):c.900C>T (p.Asp300=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001407856] | likely benign | Y | 1300580 | 1300580 | Human | 1 | name , alternate_id |
| 127241125 | CV1108661 | single nucleotide variant | NM_172245.4(CSF2RA):c.556T>C (p.Leu186=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001434357] | likely benign | X | 1290419 | 1290419 | Human | 1 | name , alternate_id |
| 127241125 | CV1108661 | single nucleotide variant | NM_172245.4(CSF2RA):c.556T>C (p.Leu186=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001434357] | likely benign | Y | 1290419 | 1290419 | Human | 1 | name , alternate_id |
| 127256509 | CV1108662 | single nucleotide variant | NM_172245.4(CSF2RA):c.690G>A (p.Thr230=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001437708] | likely benign | X | 1294371 | 1294371 | Human | 1 | name , alternate_id |
| 127256509 | CV1108662 | single nucleotide variant | NM_172245.4(CSF2RA):c.690G>A (p.Thr230=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001437708] | likely benign | Y | 1294371 | 1294371 | Human | 1 | name , alternate_id |
| 127303163 | CV1130068 | single nucleotide variant | NM_172245.4(CSF2RA):c.417G>A (p.Ala139=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001461869] | likely benign | X | 1288832 | 1288832 | Human | 1 | name , alternate_id |
| 127303163 | CV1130068 | single nucleotide variant | NM_172245.4(CSF2RA):c.417G>A (p.Ala139=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001461869] | likely benign | Y | 1288832 | 1288832 | Human | 1 | name , alternate_id |
| 127329830 | CV1130069 | single nucleotide variant | NM_172245.4(CSF2RA):c.447G>A (p.Gln149=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001470444] | likely benign | X | 1288862 | 1288862 | Human | 1 | name , alternate_id |
| 127329830 | CV1130069 | single nucleotide variant | NM_172245.4(CSF2RA):c.447G>A (p.Gln149=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001470444] | likely benign | Y | 1288862 | 1288862 | Human | 1 | name , alternate_id |
| 127330238 | CV1130070 | single nucleotide variant | NM_172245.4(CSF2RA):c.525T>C (p.His175=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001470759] | likely benign | X | 1290388 | 1290388 | Human | 1 | name , alternate_id |
| 127330238 | CV1130070 | single nucleotide variant | NM_172245.4(CSF2RA):c.525T>C (p.His175=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001470759] | likely benign | Y | 1290388 | 1290388 | Human | 1 | name , alternate_id |
| 127334768 | CV1130071 | single nucleotide variant | NM_172245.4(CSF2RA):c.741G>A (p.Ser247=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001473843] | likely benign | X | 1294422 | 1294422 | Human | 1 | name , alternate_id |
| 127334768 | CV1130071 | single nucleotide variant | NM_172245.4(CSF2RA):c.741G>A (p.Ser247=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001473843] | likely benign | Y | 1294422 | 1294422 | Human | 1 | name , alternate_id |
| 127306211 | CV1151079 | single nucleotide variant | NM_172245.4(CSF2RA):c.585C>T (p.Asn195=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001500144]|not provided [RCV003992529] | likely benign | X | 1290448 | 1290448 | Human | 1 | name , alternate_id |
| 127306211 | CV1151079 | single nucleotide variant | NM_172245.4(CSF2RA):c.585C>T (p.Asn195=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001500144]|not provided [RCV003992529] | likely benign | Y | 1290448 | 1290448 | Human | 1 | name , alternate_id |
| 127333235 | CV1151080 | single nucleotide variant | NM_172245.4(CSF2RA):c.855C>T (p.Ser285=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001490038] | likely benign | X | 1300535 | 1300535 | Human | 1 | name , alternate_id |
| 127333235 | CV1151080 | single nucleotide variant | NM_172245.4(CSF2RA):c.855C>T (p.Ser285=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001490038] | likely benign | Y | 1300535 | 1300535 | Human | 1 | name , alternate_id |
| 127322778 | CV1159939 | single nucleotide variant | NM_172245.4(CSF2RA):c.393G>A (p.Ala131=) | CSF2RA-related disorder [RCV003900777]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001523663] | benign|likely benign | X | 1288808 | 1288808 | Human | 1 | name , trait , alternate_id |
| 127322778 | CV1159939 | single nucleotide variant | NM_172245.4(CSF2RA):c.393G>A (p.Ala131=) | CSF2RA-related disorder [RCV003900777]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001523663] | benign|likely benign | Y | 1288808 | 1288808 | Human | 1 | name , trait , alternate_id |
| 127318636 | CV1159942 | single nucleotide variant | NM_172245.4(CSF2RA):c.693G>A (p.Thr231=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001521734] | benign | X | 1294374 | 1294374 | Human | 1 | name , alternate_id |
| 127318636 | CV1159942 | single nucleotide variant | NM_172245.4(CSF2RA):c.693G>A (p.Thr231=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001521734] | benign | Y | 1294374 | 1294374 | Human | 1 | name , alternate_id |
| 150510967 | CV1229310 | duplication | NM_172245.4(CSF2RA):c.647-286_647-285dup | not provided [RCV001637238] | benign | X | 1294041 | 1294042 | Human | | name |
| 150510967 | CV1229310 | duplication | NM_172245.4(CSF2RA):c.647-286_647-285dup | not provided [RCV001637238] | benign | Y | 1294041 | 1294042 | Human | | name |
| 150446776 | CV1232151 | deletion | NM_172245.4(CSF2RA):c.647-290_647-207del | not provided [RCV001646059] | benign | X | 1294014 | 1294097 | Human | | name |
| 150446776 | CV1232151 | deletion | NM_172245.4(CSF2RA):c.647-290_647-207del | not provided [RCV001646059] | benign | Y | 1294014 | 1294097 | Human | | name |
| 152104901 | CV1536593 | single nucleotide variant | NM_172245.4(CSF2RA):c.708G>A (p.Arg236=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002173581] | likely benign | X | 1294389 | 1294389 | Human | 1 | name , alternate_id |
| 152104901 | CV1536593 | single nucleotide variant | NM_172245.4(CSF2RA):c.708G>A (p.Arg236=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002173581] | likely benign | Y | 1294389 | 1294389 | Human | 1 | name , alternate_id |
| 152075574 | CV1551214 | single nucleotide variant | NM_172245.4(CSF2RA):c.663C>A (p.Pro221=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002192360] | likely benign | X | 1294344 | 1294344 | Human | 1 | name , alternate_id |
| 152075574 | CV1551214 | single nucleotide variant | NM_172245.4(CSF2RA):c.663C>A (p.Pro221=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002192360] | likely benign | Y | 1294344 | 1294344 | Human | 1 | name , alternate_id |
| 152030058 | CV1565975 | single nucleotide variant | NM_172245.4(CSF2RA):c.426G>A (p.Pro142=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002086017] | likely benign | X | 1288841 | 1288841 | Human | 1 | name , alternate_id |
| 152030058 | CV1565975 | single nucleotide variant | NM_172245.4(CSF2RA):c.426G>A (p.Pro142=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002086017] | likely benign | Y | 1288841 | 1288841 | Human | 1 | name , alternate_id |
| 152103318 | CV1569422 | single nucleotide variant | NM_172245.4(CSF2RA):c.954C>T (p.Asp318=) | CSF2RA-related disorder [RCV003978667]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV002115629] | likely benign | X | 1303930 | 1303930 | Human | 1 | name , trait , alternate_id |
| 152103318 | CV1569422 | single nucleotide variant | NM_172245.4(CSF2RA):c.954C>T (p.Asp318=) | CSF2RA-related disorder [RCV003978667]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV002115629] | likely benign | Y | 1303930 | 1303930 | Human | 1 | name , trait , alternate_id |
| 152133350 | CV1585232 | single nucleotide variant | NM_172245.4(CSF2RA):c.408T>C (p.Cys136=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002083170] | likely benign | X | 1288823 | 1288823 | Human | 1 | name , alternate_id |
| 152133350 | CV1585232 | single nucleotide variant | NM_172245.4(CSF2RA):c.408T>C (p.Cys136=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002083170] | likely benign | Y | 1288823 | 1288823 | Human | 1 | name , alternate_id |
| 152165705 | CV1611421 | microsatellite | NM_172245.4(CSF2RA):c.1044-11_1044-10del | CSF2RA-related disorder [RCV003895826]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV002141769] | likely benign | X | 1305432 | 1305433 | Human | | name , trait , alternate_id |
| 152165705 | CV1611421 | microsatellite | NM_172245.4(CSF2RA):c.1044-11_1044-10del | CSF2RA-related disorder [RCV003895826]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV002141769] | likely benign | Y | 1305432 | 1305433 | Human | | name , trait , alternate_id |
| 152099756 | CV1627322 | single nucleotide variant | NM_172245.4(CSF2RA):c.960G>C (p.Gly320=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002095363] | likely benign | X | 1303936 | 1303936 | Human | 1 | name , alternate_id |
| 152099756 | CV1627322 | single nucleotide variant | NM_172245.4(CSF2RA):c.960G>C (p.Gly320=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002095363] | likely benign | Y | 1303936 | 1303936 | Human | 1 | name , alternate_id |
| 152160367 | CV1642459 | single nucleotide variant | NM_172245.4(CSF2RA):c.418A>C (p.Arg140=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002103683] | likely benign | X | 1288833 | 1288833 | Human | 1 | name , alternate_id |
| 152160367 | CV1642459 | single nucleotide variant | NM_172245.4(CSF2RA):c.418A>C (p.Arg140=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002103683] | likely benign | Y | 1288833 | 1288833 | Human | 1 | name , alternate_id |
| 9689850 | CV178249 | single nucleotide variant | NM_172245.4(CSF2RA):c.50C>G (p.Ala17Gly) | CSF2RA-related disorder [RCV003917530]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001513022]|not provided [RCV001675644]|not specified [RCV000155474] | benign | X | 1282753 | 1282753 | Human | 1 | name , trait , alternate_id |
| 9689850 | CV178249 | single nucleotide variant | NM_172245.4(CSF2RA):c.50C>G (p.Ala17Gly) | CSF2RA-related disorder [RCV003917530]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001513022]|not provided [RCV001675644]|not specified [RCV000155474] | benign | Y | 1282753 | 1282753 | Human | 1 | name , trait , alternate_id |
| 9689851 | CV178251 | single nucleotide variant | NM_172245.4(CSF2RA):c.561G>A (p.Thr187=) | CSF2RA-related disorder [RCV003907478]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000534761]|not provided [RCV001689702]|not specified [RCV000155476] | benign | Y | 1290424 | 1290424 | Human | 1 | name , trait , alternate_id |
| 9689851 | CV178251 | single nucleotide variant | NM_172245.4(CSF2RA):c.561G>A (p.Thr187=) | CSF2RA-related disorder [RCV003907478]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000534761]|not provided [RCV001689702]|not specified [RCV000155476] | benign | X | 1290424 | 1290424 | Human | 1 | name , trait , alternate_id |
| 9689852 | CV178252 | single nucleotide variant | NM_172245.4(CSF2RA):c.999G>A (p.Val333=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001514160]|not provided [RCV001668313]|not specified [RCV000155477] | benign | Y | 1303975 | 1303975 | Human | 1 | name , alternate_id |
| 9689852 | CV178252 | single nucleotide variant | NM_172245.4(CSF2RA):c.999G>A (p.Val333=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001514160]|not provided [RCV001668313]|not specified [RCV000155477] | benign | X | 1303975 | 1303975 | Human | 1 | name , alternate_id |
| 156286918 | CV1900681 | single nucleotide variant | NM_172245.4(CSF2RA):c.552A>G (p.Ser184=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002598592] | likely benign | X | 1290415 | 1290415 | Human | 1 | name , alternate_id |
| 156286918 | CV1900681 | single nucleotide variant | NM_172245.4(CSF2RA):c.552A>G (p.Ser184=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002598592] | likely benign | Y | 1290415 | 1290415 | Human | 1 | name , alternate_id |
| 10049722 | CV190850 | single nucleotide variant | NM_172245.4(CSF2RA):c.921C>T (p.Ser307=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001088711]|not provided [RCV000173821] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | X | 1300601 | 1300601 | Human | 1 | name , alternate_id |
| 10049722 | CV190850 | single nucleotide variant | NM_172245.4(CSF2RA):c.921C>T (p.Ser307=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001088711]|not provided [RCV000173821] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | Y | 1300601 | 1300601 | Human | 1 | name , alternate_id |
| 156121968 | CV1969228 | single nucleotide variant | NM_172245.4(CSF2RA):c.720C>T (p.Pro240=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002593165] | likely benign | X | 1294401 | 1294401 | Human | 1 | name , alternate_id |
| 156121968 | CV1969228 | single nucleotide variant | NM_172245.4(CSF2RA):c.720C>T (p.Pro240=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002593165] | likely benign | Y | 1294401 | 1294401 | Human | 1 | name , alternate_id |
| 156183055 | CV2033661 | single nucleotide variant | NM_172245.4(CSF2RA):c.35A>G (p.Glu12Gly) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002765673] | uncertain significance | X | 1282738 | 1282738 | Human | 1 | name , alternate_id |
| 156183055 | CV2033661 | single nucleotide variant | NM_172245.4(CSF2RA):c.35A>G (p.Glu12Gly) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002765673] | uncertain significance | Y | 1282738 | 1282738 | Human | 1 | name , alternate_id |
| 156118389 | CV2086717 | single nucleotide variant | NM_172245.4(CSF2RA):c.825T>C (p.Gly275=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002871165] | likely benign | X | 1300505 | 1300505 | Human | 1 | name , alternate_id |
| 156118389 | CV2086717 | single nucleotide variant | NM_172245.4(CSF2RA):c.825T>C (p.Gly275=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002871165] | likely benign | Y | 1300505 | 1300505 | Human | 1 | name , alternate_id |
| 156217543 | CV2111079 | single nucleotide variant | NM_172245.4(CSF2RA):c.318A>G (p.Gln106=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002932324] | likely benign | X | 1288617 | 1288617 | Human | 1 | name , alternate_id |
| 156217543 | CV2111079 | single nucleotide variant | NM_172245.4(CSF2RA):c.318A>G (p.Gln106=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002932324] | likely benign | Y | 1288617 | 1288617 | Human | 1 | name , alternate_id |
| 156004204 | CV2126472 | single nucleotide variant | NM_172245.4(CSF2RA):c.768C>T (p.Asp256=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002975326] | likely benign | X | 1294449 | 1294449 | Human | 1 | name , alternate_id |
| 156004204 | CV2126472 | single nucleotide variant | NM_172245.4(CSF2RA):c.768C>T (p.Asp256=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002975326] | likely benign | Y | 1294449 | 1294449 | Human | 1 | name , alternate_id |
| 156018007 | CV2151455 | single nucleotide variant | NM_172245.4(CSF2RA):c.495T>C (p.Cys165=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003018088] | likely benign | X | 1290358 | 1290358 | Human | 1 | name , alternate_id |
| 156018007 | CV2151455 | single nucleotide variant | NM_172245.4(CSF2RA):c.495T>C (p.Cys165=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003018088] | likely benign | Y | 1290358 | 1290358 | Human | 1 | name , alternate_id |
| 156131091 | CV2152041 | single nucleotide variant | NM_172245.4(CSF2RA):c.957C>T (p.Asp319=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003003360] | likely benign | X | 1303933 | 1303933 | Human | 1 | name , alternate_id |
| 156131091 | CV2152041 | single nucleotide variant | NM_172245.4(CSF2RA):c.957C>T (p.Asp319=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003003360] | likely benign | Y | 1303933 | 1303933 | Human | 1 | name , alternate_id |
| 11096351 | CV231306 | single nucleotide variant | NM_172245.4(CSF2RA):c.300T>C (p.Thr100=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646176]|not specified [RCV000223467] | benign | X | 1288599 | 1288599 | Human | 1 | name , alternate_id |
| 11096351 | CV231306 | single nucleotide variant | NM_172245.4(CSF2RA):c.300T>C (p.Thr100=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646176]|not specified [RCV000223467] | benign | Y | 1288599 | 1288599 | Human | 1 | name , alternate_id |
| 11089774 | CV231307 | single nucleotide variant | NM_172245.4(CSF2RA):c.549G>C (p.Leu183=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646173]|not provided [RCV004713413]|not specified [RCV000215233] | benign | X | 1290412 | 1290412 | Human | 1 | name , alternate_id |
| 11089774 | CV231307 | single nucleotide variant | NM_172245.4(CSF2RA):c.549G>C (p.Leu183=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646173]|not provided [RCV004713413]|not specified [RCV000215233] | benign | Y | 1290412 | 1290412 | Human | 1 | name , alternate_id |
| 402515701 | CV2923493 | single nucleotide variant | NM_172245.4(CSF2RA):c.330T>C (p.Leu110=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003510361] | likely benign | X | 1288629 | 1288629 | Human | 1 | name , alternate_id |
| 402515701 | CV2923493 | single nucleotide variant | NM_172245.4(CSF2RA):c.330T>C (p.Leu110=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003510361] | likely benign | Y | 1288629 | 1288629 | Human | 1 | name , alternate_id |
| 402515853 | CV2932869 | single nucleotide variant | NM_172245.4(CSF2RA):c.480G>A (p.Arg160=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003510374] | likely benign | X | 1290343 | 1290343 | Human | 1 | name , alternate_id |
| 402515853 | CV2932869 | single nucleotide variant | NM_172245.4(CSF2RA):c.480G>A (p.Arg160=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003510374] | likely benign | Y | 1290343 | 1290343 | Human | 1 | name , alternate_id |
| 405168383 | CV2949141 | single nucleotide variant | NM_172245.4(CSF2RA):c.555A>G (p.Gly185=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003621878] | likely benign | X | 1290418 | 1290418 | Human | 1 | name , alternate_id |
| 405168383 | CV2949141 | single nucleotide variant | NM_172245.4(CSF2RA):c.555A>G (p.Gly185=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003621878] | likely benign | Y | 1290418 | 1290418 | Human | 1 | name , alternate_id |
| 402464713 | CV2956444 | single nucleotide variant | NM_172245.4(CSF2RA):c.97G>C (p.Ala33Pro) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622477] | uncertain significance | X | 1285798 | 1285798 | Human | 1 | name , alternate_id |
| 402464713 | CV2956444 | single nucleotide variant | NM_172245.4(CSF2RA):c.97G>C (p.Ala33Pro) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622477] | uncertain significance | Y | 1285798 | 1285798 | Human | 1 | name , alternate_id |
| 402465475 | CV2970127 | single nucleotide variant | NM_172245.4(CSF2RA):c.537C>T (p.His179=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622659] | likely benign | X | 1290400 | 1290400 | Human | 1 | name , alternate_id |
| 402465475 | CV2970127 | single nucleotide variant | NM_172245.4(CSF2RA):c.537C>T (p.His179=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622659] | likely benign | Y | 1290400 | 1290400 | Human | 1 | name , alternate_id |
| 402467665 | CV3013270 | single nucleotide variant | NM_172245.4(CSF2RA):c.531A>T (p.Gly177=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623236] | likely benign | X | 1290394 | 1290394 | Human | 1 | name , alternate_id |
| 402467665 | CV3013270 | single nucleotide variant | NM_172245.4(CSF2RA):c.531A>T (p.Gly177=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623236] | likely benign | Y | 1290394 | 1290394 | Human | 1 | name , alternate_id |
| 402469601 | CV3050821 | single nucleotide variant | NM_172245.4(CSF2RA):c.726C>A (p.Thr242=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623754] | likely benign | X | 1294407 | 1294407 | Human | 1 | name , alternate_id |
| 402469601 | CV3050821 | single nucleotide variant | NM_172245.4(CSF2RA):c.726C>A (p.Thr242=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623754] | likely benign | Y | 1294407 | 1294407 | Human | 1 | name , alternate_id |
| 405225915 | CV3142441 | single nucleotide variant | NM_172245.4(CSF2RA):c.74C>T (p.Ser25Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003847980] | uncertain significance | X | 1282777 | 1282777 | Human | 1 | name , alternate_id |
| 405225915 | CV3142441 | single nucleotide variant | NM_172245.4(CSF2RA):c.74C>T (p.Ser25Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003847980] | uncertain significance | Y | 1282777 | 1282777 | Human | 1 | name , alternate_id |
| 405189852 | CV3156692 | single nucleotide variant | NM_172245.4(CSF2RA):c.744C>T (p.Tyr248=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003859570] | likely benign | X | 1294425 | 1294425 | Human | 1 | name , alternate_id |
| 405189852 | CV3156692 | single nucleotide variant | NM_172245.4(CSF2RA):c.744C>T (p.Tyr248=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003859570] | likely benign | Y | 1294425 | 1294425 | Human | 1 | name , alternate_id |
| 404993944 | CV3176504 | single nucleotide variant | NM_172245.4(CSF2RA):c.360T>C (p.Ala120=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003881936] | likely benign | X | 1288775 | 1288775 | Human | 1 | name , alternate_id |
| 404993944 | CV3176504 | single nucleotide variant | NM_172245.4(CSF2RA):c.360T>C (p.Ala120=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003881936] | likely benign | Y | 1288775 | 1288775 | Human | 1 | name , alternate_id |
| 597896468 | CV3740406 | single nucleotide variant | NM_172245.4(CSF2RA):c.828T>C (p.Asp276=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005071759] | likely benign | X | 1300508 | 1300508 | Human | 1 | name , alternate_id |
| 597896468 | CV3740406 | single nucleotide variant | NM_172245.4(CSF2RA):c.828T>C (p.Asp276=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005071759] | likely benign | Y | 1300508 | 1300508 | Human | 1 | name , alternate_id |
| 597852947 | CV3743452 | single nucleotide variant | NM_172245.4(CSF2RA):c.984T>C (p.Tyr328=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005060802] | likely benign | X | 1303960 | 1303960 | Human | 1 | name , alternate_id |
| 597852947 | CV3743452 | single nucleotide variant | NM_172245.4(CSF2RA):c.984T>C (p.Tyr328=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005060802] | likely benign | Y | 1303960 | 1303960 | Human | 1 | name , alternate_id |
| 597852375 | CV3758566 | single nucleotide variant | NM_172245.4(CSF2RA):c.432C>T (p.Ala144=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005088125] | likely benign | X | 1288847 | 1288847 | Human | 1 | name , alternate_id |
| 597852375 | CV3758566 | single nucleotide variant | NM_172245.4(CSF2RA):c.432C>T (p.Ala144=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005088125] | likely benign | Y | 1288847 | 1288847 | Human | 1 | name , alternate_id |
| 597905498 | CV3772932 | single nucleotide variant | NM_172245.4(CSF2RA):c.444C>T (p.Val148=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005112997] | likely benign | X | 1288859 | 1288859 | Human | 1 | name , alternate_id |
| 597905498 | CV3772932 | single nucleotide variant | NM_172245.4(CSF2RA):c.444C>T (p.Val148=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005112997] | likely benign | Y | 1288859 | 1288859 | Human | 1 | name , alternate_id |
| 597947569 | CV3817845 | single nucleotide variant | NM_172245.4(CSF2RA):c.792T>G (p.Pro264=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005160312] | likely benign | Y | 1295438 | 1295438 | Human | 1 | name , alternate_id |
| 597947569 | CV3817845 | single nucleotide variant | NM_172245.4(CSF2RA):c.792T>G (p.Pro264=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005160312] | likely benign | X | 1295438 | 1295438 | Human | 1 | name , alternate_id |
| 597965959 | CV3823650 | deletion | NM_172245.4(CSF2RA):c.221del (p.Leu74fs) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005165070] | pathogenic | X | 1288520 | 1288520 | Human | 1 | name , alternate_id |
| 597965959 | CV3823650 | deletion | NM_172245.4(CSF2RA):c.221del (p.Leu74fs) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005165070] | pathogenic | Y | 1288520 | 1288520 | Human | 1 | name , alternate_id |
| 597895345 | CV3853901 | single nucleotide variant | NM_172245.4(CSF2RA):c.879T>C (p.Ser293=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005201184] | likely benign | Y | 1300559 | 1300559 | Human | 1 | name , alternate_id |
| 597895345 | CV3853901 | single nucleotide variant | NM_172245.4(CSF2RA):c.879T>C (p.Ser293=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005201184] | likely benign | X | 1300559 | 1300559 | Human | 1 | name , alternate_id |
| 13618724 | CV535218 | single nucleotide variant | NM_172245.4(CSF2RA):c.972T>G (p.Ser324=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001424734] | likely benign | X | 1303948 | 1303948 | Human | 1 | name , alternate_id |
| 13618724 | CV535218 | single nucleotide variant | NM_172245.4(CSF2RA):c.972T>G (p.Ser324=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001424734] | likely benign | Y | 1303948 | 1303948 | Human | 1 | name , alternate_id |
| 13618597 | CV535219 | single nucleotide variant | NM_172245.4(CSF2RA):c.540G>A (p.Leu180=) | CSF2RA-related disorder [RCV003892463]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646174] | benign|likely benign | Y | 1290403 | 1290403 | Human | 1 | name , trait , alternate_id |
| 13618597 | CV535219 | single nucleotide variant | NM_172245.4(CSF2RA):c.540G>A (p.Leu180=) | CSF2RA-related disorder [RCV003892463]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646174] | benign|likely benign | X | 1290403 | 1290403 | Human | 1 | name , trait , alternate_id |
| 13618600 | CV535220 | single nucleotide variant | NM_172245.4(CSF2RA):c.996C>T (p.Ile332=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646175] | likely benign | X | 1303972 | 1303972 | Human | 1 | name , alternate_id |
| 13618600 | CV535220 | single nucleotide variant | NM_172245.4(CSF2RA):c.996C>T (p.Ile332=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646175] | likely benign | Y | 1303972 | 1303972 | Human | 1 | name , alternate_id |
| 14736488 | CV650287 | single nucleotide variant | NM_172245.4(CSF2RA):c.69G>T (p.Glu23Asp) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000803630] | uncertain significance | Y | 1282772 | 1282772 | Human | 1 | name , alternate_id |
| 14736488 | CV650287 | single nucleotide variant | NM_172245.4(CSF2RA):c.69G>T (p.Glu23Asp) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000803630] | uncertain significance | X | 1282772 | 1282772 | Human | 1 | name , alternate_id |
| 15142629 | CV717883 | single nucleotide variant | NM_172245.4(CSF2RA):c.441C>T (p.Asp147=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000966523] | likely benign | X | 1288856 | 1288856 | Human | 1 | name , alternate_id |
| 15142629 | CV717883 | single nucleotide variant | NM_172245.4(CSF2RA):c.441C>T (p.Asp147=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000966523] | likely benign | Y | 1288856 | 1288856 | Human | 1 | name , alternate_id |
| 15195074 | CV729746 | single nucleotide variant | NM_172245.4(CSF2RA):c.987G>C (p.Val329=) | CSF2RA-related disorder [RCV003895445]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000889400]|not provided [RCV004704273] | likely benign | X | 1303963 | 1303963 | Human | 1 | name , trait , alternate_id |
| 15195074 | CV729746 | single nucleotide variant | NM_172245.4(CSF2RA):c.987G>C (p.Val329=) | CSF2RA-related disorder [RCV003895445]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000889400]|not provided [RCV004704273] | likely benign | Y | 1303963 | 1303963 | Human | 1 | name , trait , alternate_id |
| 15186592 | CV743507 | single nucleotide variant | NM_172245.4(CSF2RA):c.966C>T (p.Leu322=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000908849] | likely benign | X | 1303942 | 1303942 | Human | 1 | name , alternate_id |
| 15186592 | CV743507 | single nucleotide variant | NM_172245.4(CSF2RA):c.966C>T (p.Leu322=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000908849] | likely benign | Y | 1303942 | 1303942 | Human | 1 | name , alternate_id |
| 15124530 | CV774278 | single nucleotide variant | NM_172245.4(CSF2RA):c.357C>T (p.Thr119=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001414480] | likely benign | X | 1288772 | 1288772 | Human | 1 | name , alternate_id |
| 15124530 | CV774278 | single nucleotide variant | NM_172245.4(CSF2RA):c.357C>T (p.Thr119=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001414480] | likely benign | Y | 1288772 | 1288772 | Human | 1 | name , alternate_id |
| 15116029 | CV774279 | single nucleotide variant | NM_172245.4(CSF2RA):c.429G>A (p.Thr143=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001443139] | likely benign | Y | 1288844 | 1288844 | Human | 1 | name , alternate_id |
| 15116029 | CV774279 | single nucleotide variant | NM_172245.4(CSF2RA):c.429G>A (p.Thr143=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001443139] | likely benign | X | 1288844 | 1288844 | Human | 1 | name , alternate_id |
| 15107910 | CV774280 | single nucleotide variant | NM_172245.4(CSF2RA):c.675C>T (p.Thr225=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002544535] | likely benign | X | 1294356 | 1294356 | Human | 1 | name , alternate_id |
| 15107910 | CV774280 | single nucleotide variant | NM_172245.4(CSF2RA):c.675C>T (p.Thr225=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002544535] | likely benign | Y | 1294356 | 1294356 | Human | 1 | name , alternate_id |
| 15176967 | CV774281 | single nucleotide variant | NM_172245.4(CSF2RA):c.681T>C (p.Arg227=) | CSF2RA-related disorder [RCV003895649]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000929044]|not specified [RCV001194227] | benign|likely benign | X | 1294362 | 1294362 | Human | 1 | name , trait , alternate_id |
| 15176967 | CV774281 | single nucleotide variant | NM_172245.4(CSF2RA):c.681T>C (p.Arg227=) | CSF2RA-related disorder [RCV003895649]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000929044]|not specified [RCV001194227] | benign|likely benign | Y | 1294362 | 1294362 | Human | 1 | name , trait , alternate_id |
| 26888493 | CV850350 | single nucleotide variant | NM_172245.4(CSF2RA):c.83G>A (p.Arg28Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001067117] | uncertain significance | X | 1285784 | 1285784 | Human | 1 | name , alternate_id |
| 26888493 | CV850350 | single nucleotide variant | NM_172245.4(CSF2RA):c.83G>A (p.Arg28Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001067117] | uncertain significance | Y | 1285784 | 1285784 | Human | 1 | name , alternate_id |
| 38499610 | CV959380 | single nucleotide variant | NM_172245.4(CSF2RA):c.83G>C (p.Arg28Pro) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001244855] | uncertain significance | X | 1285784 | 1285784 | Human | 1 | name , alternate_id |
| 38499610 | CV959380 | single nucleotide variant | NM_172245.4(CSF2RA):c.83G>C (p.Arg28Pro) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001244855] | uncertain significance | Y | 1285784 | 1285784 | Human | 1 | name , alternate_id |
| 126922030 | CV1052567 | single nucleotide variant | NM_172245.4(CSF2RA):c.101C>G (p.Ser34Cys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001364184] | uncertain significance | X | 1285802 | 1285802 | Human | 1 | name , alternate_id |
| 126922030 | CV1052567 | single nucleotide variant | NM_172245.4(CSF2RA):c.101C>G (p.Ser34Cys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001364184] | uncertain significance | Y | 1285802 | 1285802 | Human | 1 | name , alternate_id |
| 127266389 | CV1065545 | deletion | NM_172245.4(CSF2RA):c.547del (p.Leu183fs) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001388704] | pathogenic | X | 1290409 | 1290409 | Human | 1 | name , alternate_id |
| 127266389 | CV1065545 | deletion | NM_172245.4(CSF2RA):c.547del (p.Leu183fs) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001388704] | pathogenic | Y | 1290409 | 1290409 | Human | 1 | name , alternate_id |
| 127251763 | CV1086959 | single nucleotide variant | NM_172245.4(CSF2RA):c.1026C>T (p.Leu342=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001400187]|not provided [RCV004704527] | likely benign | X | 1304002 | 1304002 | Human | 1 | name , alternate_id |
| 127251763 | CV1086959 | single nucleotide variant | NM_172245.4(CSF2RA):c.1026C>T (p.Leu342=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001400187]|not provided [RCV004704527] | likely benign | Y | 1304002 | 1304002 | Human | 1 | name , alternate_id |
| 127245906 | CV1108663 | single nucleotide variant | NM_172245.4(CSF2RA):c.1056A>T (p.Ile352=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001424425] | likely benign | X | 1305458 | 1305458 | Human | 1 | name , alternate_id |
| 127245906 | CV1108663 | single nucleotide variant | NM_172245.4(CSF2RA):c.1056A>T (p.Ile352=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001424425] | likely benign | Y | 1305458 | 1305458 | Human | 1 | name , alternate_id |
| 127268728 | CV1108664 | single nucleotide variant | NM_172245.4(CSF2RA):c.1071G>T (p.Pro357=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001440879] | likely benign | X | 1305473 | 1305473 | Human | 1 | name , alternate_id |
| 127268728 | CV1108664 | single nucleotide variant | NM_172245.4(CSF2RA):c.1071G>T (p.Pro357=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001440879] | likely benign | Y | 1305473 | 1305473 | Human | 1 | name , alternate_id |
| 127274206 | CV1108665 | single nucleotide variant | NM_172245.4(CSF2RA):c.1116G>A (p.Val372=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001442832] | likely benign | X | 1305518 | 1305518 | Human | 1 | name , alternate_id |
| 127274206 | CV1108665 | single nucleotide variant | NM_172245.4(CSF2RA):c.1116G>A (p.Val372=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001442832] | likely benign | Y | 1305518 | 1305518 | Human | 1 | name , alternate_id |
| 151866711 | CV1342263 | single nucleotide variant | NM_172245.4(CSF2RA):c.250C>T (p.Arg84Cys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001997823] | uncertain significance | X | 1288549 | 1288549 | Human | 1 | name , alternate_id |
| 151866711 | CV1342263 | single nucleotide variant | NM_172245.4(CSF2RA):c.250C>T (p.Arg84Cys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001997823] | uncertain significance | Y | 1288549 | 1288549 | Human | 1 | name , alternate_id |
| 151867355 | CV1435864 | single nucleotide variant | NM_172245.4(CSF2RA):c.239C>T (p.Ser80Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001997896] | uncertain significance | X | 1288538 | 1288538 | Human | 1 | name , alternate_id |
| 151867355 | CV1435864 | single nucleotide variant | NM_172245.4(CSF2RA):c.239C>T (p.Ser80Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001997896] | uncertain significance | Y | 1288538 | 1288538 | Human | 1 | name , alternate_id |
| 151775865 | CV1463720 | single nucleotide variant | NM_172245.4(CSF2RA):c.104G>A (p.Ser35Asn) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001896785] | uncertain significance | X | 1285805 | 1285805 | Human | 1 | name , alternate_id |
| 151775865 | CV1463720 | single nucleotide variant | NM_172245.4(CSF2RA):c.104G>A (p.Ser35Asn) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001896785] | uncertain significance | Y | 1285805 | 1285805 | Human | 1 | name , alternate_id |
| 152087068 | CV1578265 | single nucleotide variant | NM_172245.4(CSF2RA):c.1185C>T (p.Thr395=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002171315] | likely benign | X | 1309461 | 1309461 | Human | 1 | name , alternate_id |
| 152087068 | CV1578265 | single nucleotide variant | NM_172245.4(CSF2RA):c.1185C>T (p.Thr395=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002171315] | likely benign | Y | 1309461 | 1309461 | Human | 1 | name , alternate_id |
| 152072988 | CV1657347 | single nucleotide variant | NM_172245.4(CSF2RA):c.1020C>T (p.Ile340=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002210226] | likely benign | X | 1303996 | 1303996 | Human | 1 | name , alternate_id |
| 152072988 | CV1657347 | single nucleotide variant | NM_172245.4(CSF2RA):c.1020C>T (p.Ile340=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002210226] | likely benign | Y | 1303996 | 1303996 | Human | 1 | name , alternate_id |
| 156412137 | CV1890358 | single nucleotide variant | NM_172245.4(CSF2RA):c.266A>G (p.His89Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003072770] | uncertain significance | X | 1288565 | 1288565 | Human | 1 | name , alternate_id |
| 156412137 | CV1890358 | single nucleotide variant | NM_172245.4(CSF2RA):c.266A>G (p.His89Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003072770] | uncertain significance | Y | 1288565 | 1288565 | Human | 1 | name , alternate_id |
| 156404387 | CV1916541 | single nucleotide variant | NM_172245.4(CSF2RA):c.1128C>A (p.Ile376=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002606082] | likely benign | X | 1309404 | 1309404 | Human | 1 | name , alternate_id |
| 156404387 | CV1916541 | single nucleotide variant | NM_172245.4(CSF2RA):c.1128C>A (p.Ile376=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002606082] | likely benign | Y | 1309404 | 1309404 | Human | 1 | name , alternate_id |
| 156405630 | CV1919426 | single nucleotide variant | NM_172245.4(CSF2RA):c.1110T>C (p.His370=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002585692] | likely benign | X | 1305512 | 1305512 | Human | 1 | name , alternate_id |
| 156405630 | CV1919426 | single nucleotide variant | NM_172245.4(CSF2RA):c.1110T>C (p.His370=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002585692] | likely benign | Y | 1305512 | 1305512 | Human | 1 | name , alternate_id |
| 405167718 | CV2948576 | duplication | NM_172245.4(CSF2RA):c.669dup (p.Val224fs) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003621841] | pathogenic | X | 1294349 | 1294350 | Human | 1 | name , alternate_id |
| 405167718 | CV2948576 | duplication | NM_172245.4(CSF2RA):c.669dup (p.Val224fs) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003621841] | pathogenic | Y | 1294349 | 1294350 | Human | 1 | name , alternate_id |
| 402465026 | CV2974091 | single nucleotide variant | NM_172245.4(CSF2RA):c.147G>A (p.Trp49Ter) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622520] | pathogenic | X | 1285848 | 1285848 | Human | 1 | name , alternate_id |
| 402465026 | CV2974091 | single nucleotide variant | NM_172245.4(CSF2RA):c.147G>A (p.Trp49Ter) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622520] | pathogenic | Y | 1285848 | 1285848 | Human | 1 | name , alternate_id |
| 402465568 | CV2980753 | deletion | NM_172245.4(CSF2RA):c.865del (p.Arg289fs) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622684] | pathogenic | X | 1300545 | 1300545 | Human | 1 | name , alternate_id |
| 402465568 | CV2980753 | deletion | NM_172245.4(CSF2RA):c.865del (p.Arg289fs) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622684] | pathogenic | Y | 1300545 | 1300545 | Human | 1 | name , alternate_id |
| 405041347 | CV3141136 | single nucleotide variant | NM_172245.4(CSF2RA):c.1167C>T (p.Tyr389=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003831429] | likely benign | X | 1309443 | 1309443 | Human | 1 | name , alternate_id |
| 405041347 | CV3141136 | single nucleotide variant | NM_172245.4(CSF2RA):c.1167C>T (p.Tyr389=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003831429] | likely benign | Y | 1309443 | 1309443 | Human | 1 | name , alternate_id |
| 405212330 | CV3173515 | single nucleotide variant | NM_172245.4(CSF2RA):c.161A>G (p.Asn54Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003862264] | uncertain significance | X | 1285862 | 1285862 | Human | 1 | name , alternate_id |
| 405212330 | CV3173515 | single nucleotide variant | NM_172245.4(CSF2RA):c.161A>G (p.Asn54Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003862264] | uncertain significance | Y | 1285862 | 1285862 | Human | 1 | name , alternate_id |
| 597892848 | CV3809843 | single nucleotide variant | NM_172245.4(CSF2RA):c.1164C>T (p.Gly388=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005151564] | likely benign | Y | 1309440 | 1309440 | Human | 1 | name , alternate_id |
| 597892848 | CV3809843 | single nucleotide variant | NM_172245.4(CSF2RA):c.1164C>T (p.Gly388=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005151564] | likely benign | X | 1309440 | 1309440 | Human | 1 | name , alternate_id |
| 597936818 | CV3862579 | single nucleotide variant | NM_172245.4(CSF2RA):c.1140A>G (p.Glu380=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005207851] | likely benign | X | 1309416 | 1309416 | Human | 1 | name , alternate_id |
| 597936818 | CV3862579 | single nucleotide variant | NM_172245.4(CSF2RA):c.1140A>G (p.Glu380=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005207851] | likely benign | Y | 1309416 | 1309416 | Human | 1 | name , alternate_id |
| 13466825 | CV472233 | single nucleotide variant | NM_172245.4(CSF2RA):c.223A>G (p.Ser75Gly) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000552721]|not provided [RCV001584307]|not specified [RCV000616558] | benign|likely benign | X | 1288522 | 1288522 | Human | 1 | name , alternate_id |
| 13466825 | CV472233 | single nucleotide variant | NM_172245.4(CSF2RA):c.223A>G (p.Ser75Gly) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000552721]|not provided [RCV001584307]|not specified [RCV000616558] | benign|likely benign | Y | 1288522 | 1288522 | Human | 1 | name , alternate_id |
| 13618603 | CV535221 | single nucleotide variant | NM_172245.4(CSF2RA):c.1071G>A (p.Pro357=) | CSF2RA-related disorder [RCV003905748]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646177]|not provided [RCV004714106] | benign | X | 1305473 | 1305473 | Human | 1 | name , trait , alternate_id |
| 13618603 | CV535221 | single nucleotide variant | NM_172245.4(CSF2RA):c.1071G>A (p.Pro357=) | CSF2RA-related disorder [RCV003905748]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646177]|not provided [RCV004714106] | benign | Y | 1305473 | 1305473 | Human | 1 | name , trait , alternate_id |
| 13819993 | CV575469 | single nucleotide variant | NM_172245.4(CSF2RA):c.191A>G (p.Asp64Gly) | CSF2RA-related disorder [RCV003892550]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000694681]|not provided [RCV003227831] | likely benign|uncertain significance | X | 1285892 | 1285892 | Human | 1 | name , trait , alternate_id |
| 13819993 | CV575469 | single nucleotide variant | NM_172245.4(CSF2RA):c.191A>G (p.Asp64Gly) | CSF2RA-related disorder [RCV003892550]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000694681]|not provided [RCV003227831] | likely benign|uncertain significance | Y | 1285892 | 1285892 | Human | 1 | name , trait , alternate_id |
| 14697953 | CV623389 | single nucleotide variant | NM_172245.4(CSF2RA):c.281T>C (p.Phe94Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000787037] | uncertain significance | Y | 1288580 | 1288580 | Human | 1 | name , alternate_id |
| 14697953 | CV623389 | single nucleotide variant | NM_172245.4(CSF2RA):c.281T>C (p.Phe94Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000787037] | uncertain significance | X | 1288580 | 1288580 | Human | 1 | name , alternate_id |
| 14698968 | CV624728 | single nucleotide variant | NM_172245.4(CSF2RA):c.167C>A (p.Thr56Asn) | not provided [RCV000788140] | uncertain significance | X | 1285868 | 1285868 | Human | | name |
| 14698968 | CV624728 | single nucleotide variant | NM_172245.4(CSF2RA):c.167C>A (p.Thr56Asn) | not provided [RCV000788140] | uncertain significance | Y | 1285868 | 1285868 | Human | | name |
| 14725053 | CV650288 | single nucleotide variant | NM_172245.4(CSF2RA):c.163A>G (p.Thr55Ala) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000798653] | uncertain significance | Y | 1285864 | 1285864 | Human | 1 | name , alternate_id |
| 14725053 | CV650288 | single nucleotide variant | NM_172245.4(CSF2RA):c.163A>G (p.Thr55Ala) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000798653] | uncertain significance | X | 1285864 | 1285864 | Human | 1 | name , alternate_id |
| 14715047 | CV650289 | single nucleotide variant | NM_172245.4(CSF2RA):c.232G>A (p.Glu78Lys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000794635] | uncertain significance | Y | 1288531 | 1288531 | Human | 1 | name , alternate_id |
| 14715047 | CV650289 | single nucleotide variant | NM_172245.4(CSF2RA):c.232G>A (p.Glu78Lys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000794635] | uncertain significance | X | 1288531 | 1288531 | Human | 1 | name , alternate_id |
| 14719665 | CV650290 | single nucleotide variant | NM_172245.4(CSF2RA):c.251G>A (p.Arg84His) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000796307]|not provided [RCV004597874] | likely benign|uncertain significance | Y | 1288550 | 1288550 | Human | 1 | name , alternate_id |
| 14719665 | CV650290 | single nucleotide variant | NM_172245.4(CSF2RA):c.251G>A (p.Arg84His) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000796307]|not provided [RCV004597874] | likely benign|uncertain significance | X | 1288550 | 1288550 | Human | 1 | name , alternate_id |
| 15110040 | CV729747 | single nucleotide variant | NM_172245.4(CSF2RA):c.1122C>T (p.Asp374=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000893981] | likely benign | X | 1305524 | 1305524 | Human | 1 | name , alternate_id |
| 15110040 | CV729747 | single nucleotide variant | NM_172245.4(CSF2RA):c.1122C>T (p.Asp374=) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000893981] | likely benign | Y | 1305524 | 1305524 | Human | 1 | name , alternate_id |
| 26905166 | CV850351 | single nucleotide variant | NM_172245.4(CSF2RA):c.137A>G (p.Asn46Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001036890] | uncertain significance | X | 1285838 | 1285838 | Human | 1 | name , alternate_id |
| 26905166 | CV850351 | single nucleotide variant | NM_172245.4(CSF2RA):c.137A>G (p.Asn46Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001036890] | uncertain significance | Y | 1285838 | 1285838 | Human | 1 | name , alternate_id |
| 26906293 | CV850352 | single nucleotide variant | NM_172245.4(CSF2RA):c.242G>A (p.Cys81Tyr) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001037382] | uncertain significance | X | 1288541 | 1288541 | Human | 1 | name , alternate_id |
| 26906293 | CV850352 | single nucleotide variant | NM_172245.4(CSF2RA):c.242G>A (p.Cys81Tyr) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001037382] | uncertain significance | Y | 1288541 | 1288541 | Human | 1 | name , alternate_id |
| 38472016 | CV951915 | single nucleotide variant | NM_172245.4(CSF2RA):c.144C>G (p.Ser48Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001231372] | uncertain significance | X | 1285845 | 1285845 | Human | 1 | name , alternate_id |
| 38472016 | CV951915 | single nucleotide variant | NM_172245.4(CSF2RA):c.144C>G (p.Ser48Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001231372] | uncertain significance | Y | 1285845 | 1285845 | Human | 1 | name , alternate_id |
| 38474256 | CV951916 | single nucleotide variant | NM_172245.4(CSF2RA):c.208G>A (p.Val70Met) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001232135] | uncertain significance | X | 1285909 | 1285909 | Human | 1 | name , alternate_id |
| 38474256 | CV951916 | single nucleotide variant | NM_172245.4(CSF2RA):c.208G>A (p.Val70Met) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001232135] | uncertain significance | Y | 1285909 | 1285909 | Human | 1 | name , alternate_id |
| 38467191 | CV959381 | single nucleotide variant | NM_172245.4(CSF2RA):c.131C>T (p.Thr44Met) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001247802] | uncertain significance | X | 1285832 | 1285832 | Human | 1 | name , alternate_id |
| 38467191 | CV959381 | single nucleotide variant | NM_172245.4(CSF2RA):c.131C>T (p.Thr44Met) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001247802] | uncertain significance | Y | 1285832 | 1285832 | Human | 1 | name , alternate_id |
| 126733299 | CV1001297 | single nucleotide variant | NM_172245.4(CSF2RA):c.689C>T (p.Thr230Met) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003106190]|not provided [RCV001311050] | likely benign|uncertain significance | X | 1294370 | 1294370 | Human | 1 | name , alternate_id |
| 126733299 | CV1001297 | single nucleotide variant | NM_172245.4(CSF2RA):c.689C>T (p.Thr230Met) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003106190]|not provided [RCV001311050] | likely benign|uncertain significance | Y | 1294370 | 1294370 | Human | 1 | name , alternate_id |
| 126771734 | CV1015101 | single nucleotide variant | NM_172245.4(CSF2RA):c.566G>A (p.Arg189His) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001323327] | uncertain significance | X | 1290429 | 1290429 | Human | 1 | name , alternate_id |
| 126771734 | CV1015101 | single nucleotide variant | NM_172245.4(CSF2RA):c.566G>A (p.Arg189His) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001323327] | uncertain significance | Y | 1290429 | 1290429 | Human | 1 | name , alternate_id |
| 126737781 | CV1022202 | single nucleotide variant | NM_172245.4(CSF2RA):c.926G>A (p.Trp309Ter) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001335381] | pathogenic | X | 1300606 | 1300606 | Human | | name , alternate_id |
| 126737781 | CV1022202 | single nucleotide variant | NM_172245.4(CSF2RA):c.926G>A (p.Trp309Ter) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001335381] | pathogenic | Y | 1300606 | 1300606 | Human | | name , alternate_id |
| 126909528 | CV1036753 | single nucleotide variant | NM_172245.4(CSF2RA):c.335C>G (p.Pro112Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001353248] | uncertain significance | X | 1288634 | 1288634 | Human | 1 | name , alternate_id |
| 126909528 | CV1036753 | single nucleotide variant | NM_172245.4(CSF2RA):c.335C>G (p.Pro112Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001353248] | uncertain significance | Y | 1288634 | 1288634 | Human | 1 | name , alternate_id |
| 126921344 | CV1052568 | single nucleotide variant | NM_172245.4(CSF2RA):c.615C>A (p.Phe205Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001374339] | uncertain significance | X | 1290478 | 1290478 | Human | 1 | name , alternate_id |
| 126921344 | CV1052568 | single nucleotide variant | NM_172245.4(CSF2RA):c.615C>A (p.Phe205Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001374339] | uncertain significance | Y | 1290478 | 1290478 | Human | 1 | name , alternate_id |
| 126912029 | CV1052569 | single nucleotide variant | NM_172245.4(CSF2RA):c.707G>A (p.Arg236Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001369522] | uncertain significance | X | 1294388 | 1294388 | Human | 1 | name , alternate_id |
| 126912029 | CV1052569 | single nucleotide variant | NM_172245.4(CSF2RA):c.707G>A (p.Arg236Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001369522] | uncertain significance | Y | 1294388 | 1294388 | Human | 1 | name , alternate_id |
| 126912764 | CV1052570 | single nucleotide variant | NM_172245.4(CSF2RA):c.719C>T (p.Pro240Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001358932] | uncertain significance | X | 1294400 | 1294400 | Human | 1 | name , alternate_id |
| 126912764 | CV1052570 | single nucleotide variant | NM_172245.4(CSF2RA):c.719C>T (p.Pro240Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001358932] | uncertain significance | Y | 1294400 | 1294400 | Human | 1 | name , alternate_id |
| 126923614 | CV1052571 | single nucleotide variant | NM_172245.4(CSF2RA):c.794G>C (p.Gly265Ala) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001366043] | uncertain significance | X | 1295440 | 1295440 | Human | 1 | name , alternate_id |
| 126923614 | CV1052571 | single nucleotide variant | NM_172245.4(CSF2RA):c.794G>C (p.Gly265Ala) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001366043] | uncertain significance | Y | 1295440 | 1295440 | Human | 1 | name , alternate_id |
| 151831184 | CV1355898 | single nucleotide variant | NM_172245.4(CSF2RA):c.366G>C (p.Gln122His) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002030821] | uncertain significance | X | 1288781 | 1288781 | Human | 1 | name , alternate_id |
| 151831184 | CV1355898 | single nucleotide variant | NM_172245.4(CSF2RA):c.366G>C (p.Gln122His) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002030821] | uncertain significance | Y | 1288781 | 1288781 | Human | 1 | name , alternate_id |
| 151713112 | CV1383839 | single nucleotide variant | NM_172245.4(CSF2RA):c.766G>A (p.Asp256Asn) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001908411] | uncertain significance | X | 1294447 | 1294447 | Human | 1 | name , alternate_id |
| 151713112 | CV1383839 | single nucleotide variant | NM_172245.4(CSF2RA):c.766G>A (p.Asp256Asn) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001908411] | uncertain significance | Y | 1294447 | 1294447 | Human | 1 | name , alternate_id |
| 151826662 | CV1396227 | single nucleotide variant | NM_172245.4(CSF2RA):c.787C>T (p.Gln263Ter) | CSF2RA-related disorder [RCV003394301]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001934649] | pathogenic|likely pathogenic | X | 1295433 | 1295433 | Human | 1 | name , trait , alternate_id |
| 151826662 | CV1396227 | single nucleotide variant | NM_172245.4(CSF2RA):c.787C>T (p.Gln263Ter) | CSF2RA-related disorder [RCV003394301]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001934649] | pathogenic|likely pathogenic | Y | 1295433 | 1295433 | Human | 1 | name , trait , alternate_id |
| 151742851 | CV1405098 | single nucleotide variant | NM_172245.4(CSF2RA):c.416C>G (p.Ala139Gly) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001947270] | uncertain significance | X | 1288831 | 1288831 | Human | 1 | name , alternate_id |
| 151742851 | CV1405098 | single nucleotide variant | NM_172245.4(CSF2RA):c.416C>G (p.Ala139Gly) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001947270] | uncertain significance | Y | 1288831 | 1288831 | Human | 1 | name , alternate_id |
| 151742235 | CV1409360 | single nucleotide variant | NM_172245.4(CSF2RA):c.872A>G (p.Lys291Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001893378] | uncertain significance | X | 1300552 | 1300552 | Human | 1 | name , alternate_id |
| 151742235 | CV1409360 | single nucleotide variant | NM_172245.4(CSF2RA):c.872A>G (p.Lys291Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001893378] | uncertain significance | Y | 1300552 | 1300552 | Human | 1 | name , alternate_id |
| 151769370 | CV1409692 | single nucleotide variant | NM_172245.4(CSF2RA):c.679C>T (p.Arg227Cys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001896178] | uncertain significance | X | 1294360 | 1294360 | Human | 1 | name , alternate_id |
| 151769370 | CV1409692 | single nucleotide variant | NM_172245.4(CSF2RA):c.679C>T (p.Arg227Cys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001896178] | uncertain significance | Y | 1294360 | 1294360 | Human | 1 | name , alternate_id |
| 151726297 | CV1415995 | single nucleotide variant | NM_172245.4(CSF2RA):c.797C>T (p.Thr266Met) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001945565] | uncertain significance | X | 1295443 | 1295443 | Human | 1 | name , alternate_id |
| 151726297 | CV1415995 | single nucleotide variant | NM_172245.4(CSF2RA):c.797C>T (p.Thr266Met) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001945565] | uncertain significance | Y | 1295443 | 1295443 | Human | 1 | name , alternate_id |
| 151808248 | CV1417849 | single nucleotide variant | NM_172245.4(CSF2RA):c.416C>T (p.Ala139Val) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001867754] | uncertain significance | X | 1288831 | 1288831 | Human | 1 | name , alternate_id |
| 151808248 | CV1417849 | single nucleotide variant | NM_172245.4(CSF2RA):c.416C>T (p.Ala139Val) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001867754] | uncertain significance | Y | 1288831 | 1288831 | Human | 1 | name , alternate_id |
| 151879126 | CV1419223 | single nucleotide variant | NM_172245.4(CSF2RA):c.917G>A (p.Trp306Ter) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001982285] | pathogenic | X | 1300597 | 1300597 | Human | 1 | name , alternate_id |
| 151879126 | CV1419223 | single nucleotide variant | NM_172245.4(CSF2RA):c.917G>A (p.Trp306Ter) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001982285] | pathogenic | Y | 1300597 | 1300597 | Human | 1 | name , alternate_id |
| 151846669 | CV1423884 | single nucleotide variant | NM_172245.4(CSF2RA):c.425C>A (p.Pro142Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001995424] | uncertain significance | X | 1288840 | 1288840 | Human | 1 | name , alternate_id |
| 151846669 | CV1423884 | single nucleotide variant | NM_172245.4(CSF2RA):c.425C>A (p.Pro142Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001995424] | uncertain significance | Y | 1288840 | 1288840 | Human | 1 | name , alternate_id |
| 151824447 | CV1424935 | single nucleotide variant | NM_172245.4(CSF2RA):c.938T>A (p.Ile313Asn) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001901197] | uncertain significance | X | 1300618 | 1300618 | Human | 1 | name , alternate_id |
| 151824447 | CV1424935 | single nucleotide variant | NM_172245.4(CSF2RA):c.938T>A (p.Ile313Asn) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001901197] | uncertain significance | Y | 1300618 | 1300618 | Human | 1 | name , alternate_id |
| 151723924 | CV1425223 | single nucleotide variant | NM_172245.4(CSF2RA):c.703G>T (p.Val235Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001891481] | uncertain significance | X | 1294384 | 1294384 | Human | 1 | name , alternate_id |
| 151723924 | CV1425223 | single nucleotide variant | NM_172245.4(CSF2RA):c.703G>T (p.Val235Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001891481] | uncertain significance | Y | 1294384 | 1294384 | Human | 1 | name , alternate_id |
| 151867607 | CV1429520 | single nucleotide variant | NM_172245.4(CSF2RA):c.414G>A (p.Trp138Ter) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002035251] | pathogenic | X | 1288829 | 1288829 | Human | 1 | name , alternate_id |
| 151867607 | CV1429520 | single nucleotide variant | NM_172245.4(CSF2RA):c.414G>A (p.Trp138Ter) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002035251] | pathogenic | Y | 1288829 | 1288829 | Human | 1 | name , alternate_id |
| 151743809 | CV1431799 | single nucleotide variant | NM_172245.4(CSF2RA):c.700C>A (p.Leu234Ile) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001926737] | uncertain significance | X | 1294381 | 1294381 | Human | 1 | name , alternate_id |
| 151743809 | CV1431799 | single nucleotide variant | NM_172245.4(CSF2RA):c.700C>A (p.Leu234Ile) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001926737] | uncertain significance | Y | 1294381 | 1294381 | Human | 1 | name , alternate_id |
| 151848208 | CV1433488 | single nucleotide variant | NM_172245.4(CSF2RA):c.502T>A (p.Tyr168Asn) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001978576] | uncertain significance | X | 1290365 | 1290365 | Human | 1 | name , alternate_id |
| 151848208 | CV1433488 | single nucleotide variant | NM_172245.4(CSF2RA):c.502T>A (p.Tyr168Asn) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001978576] | uncertain significance | Y | 1290365 | 1290365 | Human | 1 | name , alternate_id |
| 151791372 | CV1436242 | single nucleotide variant | NM_172245.4(CSF2RA):c.877A>C (p.Ser293Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001990110] | uncertain significance | X | 1300557 | 1300557 | Human | 1 | name , alternate_id |
| 151791372 | CV1436242 | single nucleotide variant | NM_172245.4(CSF2RA):c.877A>C (p.Ser293Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001990110] | uncertain significance | Y | 1300557 | 1300557 | Human | 1 | name , alternate_id |
| 151860701 | CV1438564 | single nucleotide variant | NM_172245.4(CSF2RA):c.680G>A (p.Arg227His) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001923957] | uncertain significance | X | 1294361 | 1294361 | Human | 1 | name , alternate_id |
| 151860701 | CV1438564 | single nucleotide variant | NM_172245.4(CSF2RA):c.680G>A (p.Arg227His) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001923957] | uncertain significance | Y | 1294361 | 1294361 | Human | 1 | name , alternate_id |
| 151792943 | CV1446985 | single nucleotide variant | NM_172245.4(CSF2RA):c.536A>G (p.His179Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001876679] | uncertain significance | X | 1290399 | 1290399 | Human | 1 | name , alternate_id |
| 151792943 | CV1446985 | single nucleotide variant | NM_172245.4(CSF2RA):c.536A>G (p.His179Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001876679] | uncertain significance | Y | 1290399 | 1290399 | Human | 1 | name , alternate_id |
| 151827266 | CV1447352 | single nucleotide variant | NM_172245.4(CSF2RA):c.592A>G (p.Ser198Gly) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001870181] | uncertain significance | X | 1290455 | 1290455 | Human | 1 | name , alternate_id |
| 151827266 | CV1447352 | single nucleotide variant | NM_172245.4(CSF2RA):c.592A>G (p.Ser198Gly) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001870181] | uncertain significance | Y | 1290455 | 1290455 | Human | 1 | name , alternate_id |
| 151775480 | CV1450411 | single nucleotide variant | NM_172245.4(CSF2RA):c.901G>T (p.Val301Phe) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001915391] | uncertain significance | X | 1300581 | 1300581 | Human | 1 | name , alternate_id |
| 151775480 | CV1450411 | single nucleotide variant | NM_172245.4(CSF2RA):c.901G>T (p.Val301Phe) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001915391] | uncertain significance | Y | 1300581 | 1300581 | Human | 1 | name , alternate_id |
| 151874038 | CV1470328 | single nucleotide variant | NM_172245.4(CSF2RA):c.617T>C (p.Phe206Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001885635] | uncertain significance | X | 1290480 | 1290480 | Human | 1 | name , alternate_id |
| 151874038 | CV1470328 | single nucleotide variant | NM_172245.4(CSF2RA):c.617T>C (p.Phe206Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001885635] | uncertain significance | Y | 1290480 | 1290480 | Human | 1 | name , alternate_id |
| 151827196 | CV1471939 | single nucleotide variant | NM_172245.4(CSF2RA):c.599A>T (p.Glu200Val) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002030446] | uncertain significance | X | 1290462 | 1290462 | Human | 1 | name , alternate_id |
| 151827196 | CV1471939 | single nucleotide variant | NM_172245.4(CSF2RA):c.599A>T (p.Glu200Val) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002030446] | uncertain significance | Y | 1290462 | 1290462 | Human | 1 | name , alternate_id |
| 151740676 | CV1475031 | single nucleotide variant | NM_172245.4(CSF2RA):c.703G>A (p.Val235Ile) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001968117] | uncertain significance | X | 1294384 | 1294384 | Human | 1 | name , alternate_id |
| 151740676 | CV1475031 | single nucleotide variant | NM_172245.4(CSF2RA):c.703G>A (p.Val235Ile) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001968117] | uncertain significance | Y | 1294384 | 1294384 | Human | 1 | name , alternate_id |
| 151863219 | CV1498462 | single nucleotide variant | NM_172245.4(CSF2RA):c.461T>C (p.Ile154Thr) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001980397] | uncertain significance | X | 1288876 | 1288876 | Human | 1 | name , alternate_id |
| 151863219 | CV1498462 | single nucleotide variant | NM_172245.4(CSF2RA):c.461T>C (p.Ile154Thr) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001980397] | uncertain significance | Y | 1288876 | 1288876 | Human | 1 | name , alternate_id |
| 152982830 | CV1677692 | single nucleotide variant | NM_172245.4(CSF2RA):c.649C>T (p.Arg217Ter) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002249845] | pathogenic | X | 1294330 | 1294330 | Human | 1 | name , alternate_id |
| 152982830 | CV1677692 | single nucleotide variant | NM_172245.4(CSF2RA):c.649C>T (p.Arg217Ter) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002249845] | pathogenic | Y | 1294330 | 1294330 | Human | 1 | name , alternate_id |
| 155715193 | CV1774099 | single nucleotide variant | NM_172245.4(CSF2RA):c.356C>G (p.Thr119Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002296382] | uncertain significance | X | 1288771 | 1288771 | Human | 1 | name , alternate_id |
| 155715193 | CV1774099 | single nucleotide variant | NM_172245.4(CSF2RA):c.356C>G (p.Thr119Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002296382] | uncertain significance | Y | 1288771 | 1288771 | Human | 1 | name , alternate_id |
| 155714520 | CV1776008 | single nucleotide variant | NM_172245.4(CSF2RA):c.414G>T (p.Trp138Cys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002296342] | uncertain significance | X | 1288829 | 1288829 | Human | 1 | name , alternate_id |
| 155714520 | CV1776008 | single nucleotide variant | NM_172245.4(CSF2RA):c.414G>T (p.Trp138Cys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002296342] | uncertain significance | Y | 1288829 | 1288829 | Human | 1 | name , alternate_id |
| 9693574 | CV178250 | single nucleotide variant | NM_172245.4(CSF2RA):c.425C>T (p.Pro142Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000545726]|not provided [RCV001551063]|not specified [RCV000155475] | benign|likely benign | X | 1288840 | 1288840 | Human | 1 | name , alternate_id |
| 9693574 | CV178250 | single nucleotide variant | NM_172245.4(CSF2RA):c.425C>T (p.Pro142Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000545726]|not provided [RCV001551063]|not specified [RCV000155475] | benign|likely benign | Y | 1288840 | 1288840 | Human | 1 | name , alternate_id |
| 156001122 | CV1872864 | single nucleotide variant | NM_172245.4(CSF2RA):c.677T>C (p.Val226Ala) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003076590] | uncertain significance | X | 1294358 | 1294358 | Human | 1 | name , alternate_id |
| 156001122 | CV1872864 | single nucleotide variant | NM_172245.4(CSF2RA):c.677T>C (p.Val226Ala) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003076590] | uncertain significance | Y | 1294358 | 1294358 | Human | 1 | name , alternate_id |
| 156335583 | CV1905979 | single nucleotide variant | NM_172245.4(CSF2RA):c.590C>G (p.Thr197Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003090046] | uncertain significance | X | 1290453 | 1290453 | Human | 1 | name , alternate_id |
| 156335583 | CV1905979 | single nucleotide variant | NM_172245.4(CSF2RA):c.590C>G (p.Thr197Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003090046] | uncertain significance | Y | 1290453 | 1290453 | Human | 1 | name , alternate_id |
| 156017791 | CV1909214 | single nucleotide variant | NM_172245.4(CSF2RA):c.933A>C (p.Glu311Asp) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002619235] | uncertain significance | X | 1300613 | 1300613 | Human | 1 | name , alternate_id |
| 156017791 | CV1909214 | single nucleotide variant | NM_172245.4(CSF2RA):c.933A>C (p.Glu311Asp) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002619235] | uncertain significance | Y | 1300613 | 1300613 | Human | 1 | name , alternate_id |
| 156377874 | CV1930695 | single nucleotide variant | NM_172245.4(CSF2RA):c.650G>A (p.Arg217Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002634004] | uncertain significance | X | 1294331 | 1294331 | Human | 1 | name , alternate_id |
| 156377874 | CV1930695 | single nucleotide variant | NM_172245.4(CSF2RA):c.650G>A (p.Arg217Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002634004] | uncertain significance | Y | 1294331 | 1294331 | Human | 1 | name , alternate_id |
| 156446653 | CV1948001 | single nucleotide variant | NM_172245.4(CSF2RA):c.370T>G (p.Phe124Val) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003118165] | uncertain significance | X | 1288785 | 1288785 | Human | 1 | name , alternate_id |
| 156446653 | CV1948001 | single nucleotide variant | NM_172245.4(CSF2RA):c.370T>G (p.Phe124Val) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003118165] | uncertain significance | Y | 1288785 | 1288785 | Human | 1 | name , alternate_id |
| 156336961 | CV1976904 | single nucleotide variant | NM_172245.4(CSF2RA):c.834A>T (p.Glu278Asp) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002601082] | uncertain significance | X | 1300514 | 1300514 | Human | 1 | name , alternate_id |
| 156336961 | CV1976904 | single nucleotide variant | NM_172245.4(CSF2RA):c.834A>T (p.Glu278Asp) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002601082] | uncertain significance | Y | 1300514 | 1300514 | Human | 1 | name , alternate_id |
| 155920493 | CV1991228 | single nucleotide variant | NM_172245.4(CSF2RA):c.934G>A (p.Ala312Thr) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002614541] | uncertain significance | X | 1300614 | 1300614 | Human | 1 | name , alternate_id |
| 155920493 | CV1991228 | single nucleotide variant | NM_172245.4(CSF2RA):c.934G>A (p.Ala312Thr) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002614541] | uncertain significance | Y | 1300614 | 1300614 | Human | 1 | name , alternate_id |
| 156222386 | CV2005768 | single nucleotide variant | NM_172245.4(CSF2RA):c.497C>T (p.Pro166Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002667275] | uncertain significance | X | 1290360 | 1290360 | Human | 1 | name , alternate_id |
| 156222386 | CV2005768 | single nucleotide variant | NM_172245.4(CSF2RA):c.497C>T (p.Pro166Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002667275] | uncertain significance | Y | 1290360 | 1290360 | Human | 1 | name , alternate_id |
| 155957379 | CV2033497 | single nucleotide variant | NM_172245.4(CSF2RA):c.586G>C (p.Gly196Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002731000] | likely pathogenic | X | 1290449 | 1290449 | Human | 1 | name , alternate_id |
| 155957379 | CV2033497 | single nucleotide variant | NM_172245.4(CSF2RA):c.586G>C (p.Gly196Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002731000] | likely pathogenic | Y | 1290449 | 1290449 | Human | 1 | name , alternate_id |
| 156232697 | CV2039869 | single nucleotide variant | NM_172245.4(CSF2RA):c.893C>T (p.Ala298Val) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002805374] | uncertain significance | X | 1300573 | 1300573 | Human | 1 | name , alternate_id |
| 156232697 | CV2039869 | single nucleotide variant | NM_172245.4(CSF2RA):c.893C>T (p.Ala298Val) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002805374] | uncertain significance | Y | 1300573 | 1300573 | Human | 1 | name , alternate_id |
| 155990217 | CV2066766 | single nucleotide variant | NM_172245.4(CSF2RA):c.868G>A (p.Ala290Thr) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002842927] | uncertain significance | X | 1300548 | 1300548 | Human | 1 | name , alternate_id |
| 155990217 | CV2066766 | single nucleotide variant | NM_172245.4(CSF2RA):c.868G>A (p.Ala290Thr) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002842927] | uncertain significance | Y | 1300548 | 1300548 | Human | 1 | name , alternate_id |
| 156306572 | CV2066962 | single nucleotide variant | NM_172245.4(CSF2RA):c.689C>G (p.Thr230Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002833885] | uncertain significance | X | 1294370 | 1294370 | Human | 1 | name , alternate_id |
| 156306572 | CV2066962 | single nucleotide variant | NM_172245.4(CSF2RA):c.689C>G (p.Thr230Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002833885] | uncertain significance | Y | 1294370 | 1294370 | Human | 1 | name , alternate_id |
| 156033518 | CV2127883 | single nucleotide variant | NM_172245.4(CSF2RA):c.341C>G (p.Ser114Ter) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002923619] | pathogenic | X | 1288640 | 1288640 | Human | 1 | name , alternate_id |
| 156033518 | CV2127883 | single nucleotide variant | NM_172245.4(CSF2RA):c.341C>G (p.Ser114Ter) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002923619] | pathogenic | Y | 1288640 | 1288640 | Human | 1 | name , alternate_id |
| 156214221 | CV2127902 | single nucleotide variant | NM_172245.4(CSF2RA):c.447G>C (p.Gln149His) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002957876] | uncertain significance | X | 1288862 | 1288862 | Human | 1 | name , alternate_id |
| 156214221 | CV2127902 | single nucleotide variant | NM_172245.4(CSF2RA):c.447G>C (p.Gln149His) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002957876] | uncertain significance | Y | 1288862 | 1288862 | Human | 1 | name , alternate_id |
| 156220471 | CV2144103 | single nucleotide variant | NM_172245.4(CSF2RA):c.515C>T (p.Ser172Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003007360] | uncertain significance | X | 1290378 | 1290378 | Human | 1 | name , alternate_id |
| 156220471 | CV2144103 | single nucleotide variant | NM_172245.4(CSF2RA):c.515C>T (p.Ser172Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003007360] | uncertain significance | Y | 1290378 | 1290378 | Human | 1 | name , alternate_id |
| 156155718 | CV2150783 | single nucleotide variant | NM_172245.4(CSF2RA):c.782A>G (p.Asn261Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003023010] | uncertain significance | X | 1295428 | 1295428 | Human | 1 | name , alternate_id |
| 156155718 | CV2150783 | single nucleotide variant | NM_172245.4(CSF2RA):c.782A>G (p.Asn261Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003023010] | uncertain significance | Y | 1295428 | 1295428 | Human | 1 | name , alternate_id |
| 156169172 | CV2190216 | single nucleotide variant | NM_172245.4(CSF2RA):c.802A>G (p.Asn268Asp) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003040976] | uncertain significance | X | 1295448 | 1295448 | Human | 1 | name , alternate_id |
| 156169172 | CV2190216 | single nucleotide variant | NM_172245.4(CSF2RA):c.802A>G (p.Asn268Asp) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003040976] | uncertain significance | Y | 1295448 | 1295448 | Human | 1 | name , alternate_id |
| 8598492 | CV25394 | single nucleotide variant | NM_172245.4(CSF2RA):c.586G>A (p.Gly196Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000011068] | pathogenic | Y | 1290449 | 1290449 | Human | 1 | name , alternate_id |
| 8598492 | CV25394 | single nucleotide variant | NM_172245.4(CSF2RA):c.586G>A (p.Gly196Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000011068] | pathogenic | X | 1290449 | 1290449 | Human | 1 | name , alternate_id |
| 401856266 | CV2752405 | single nucleotide variant | NM_172245.4(CSF2RA):c.581T>G (p.Val194Gly) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003340742] | uncertain significance | X | 1290444 | 1290444 | Human | 1 | name , alternate_id |
| 401856266 | CV2752405 | single nucleotide variant | NM_172245.4(CSF2RA):c.581T>G (p.Val194Gly) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003340742] | uncertain significance | Y | 1290444 | 1290444 | Human | 1 | name , alternate_id |
| 402525092 | CV2892203 | single nucleotide variant | NM_172245.4(CSF2RA):c.437G>A (p.Arg146His) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003511153] | uncertain significance | X | 1288852 | 1288852 | Human | 1 | name , alternate_id |
| 402525092 | CV2892203 | single nucleotide variant | NM_172245.4(CSF2RA):c.437G>A (p.Arg146His) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003511153] | uncertain significance | Y | 1288852 | 1288852 | Human | 1 | name , alternate_id |
| 405255632 | CV3172613 | single nucleotide variant | NM_172245.4(CSF2RA):c.560C>T (p.Thr187Met) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003872551] | uncertain significance | X | 1290423 | 1290423 | Human | 1 | name , alternate_id |
| 405255632 | CV3172613 | single nucleotide variant | NM_172245.4(CSF2RA):c.560C>T (p.Thr187Met) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003872551] | uncertain significance | Y | 1290423 | 1290423 | Human | 1 | name , alternate_id |
| 597952189 | CV3795077 | single nucleotide variant | NM_172245.4(CSF2RA):c.402G>T (p.Met134Ile) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005136289] | uncertain significance | X | 1288817 | 1288817 | Human | 1 | name , alternate_id |
| 597952189 | CV3795077 | single nucleotide variant | NM_172245.4(CSF2RA):c.402G>T (p.Met134Ile) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV005136289] | uncertain significance | Y | 1288817 | 1288817 | Human | 1 | name , alternate_id |
| 13468718 | CV472235 | single nucleotide variant | NM_172245.4(CSF2RA):c.953A>T (p.Asp318Val) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000559632] | uncertain significance | X | 1303929 | 1303929 | Human | 1 | name , alternate_id |
| 13468718 | CV472235 | single nucleotide variant | NM_172245.4(CSF2RA):c.953A>T (p.Asp318Val) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000559632] | uncertain significance | Y | 1303929 | 1303929 | Human | 1 | name , alternate_id |
| 13618729 | CV535216 | single nucleotide variant | NM_172245.4(CSF2RA):c.668A>G (p.Asn223Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646169] | uncertain significance | X | 1294349 | 1294349 | Human | 1 | name , alternate_id |
| 13618729 | CV535216 | single nucleotide variant | NM_172245.4(CSF2RA):c.668A>G (p.Asn223Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646169] | uncertain significance | Y | 1294349 | 1294349 | Human | 1 | name , alternate_id |
| 13618726 | CV535217 | single nucleotide variant | NM_172245.4(CSF2RA):c.997G>A (p.Val333Met) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646171]|not specified [RCV000825153] | likely benign | X | 1303973 | 1303973 | Human | 1 | name , alternate_id |
| 13618726 | CV535217 | single nucleotide variant | NM_172245.4(CSF2RA):c.997G>A (p.Val333Met) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646171]|not specified [RCV000825153] | likely benign | Y | 1303973 | 1303973 | Human | 1 | name , alternate_id |
| 13813048 | CV575464 | single nucleotide variant | NM_172245.4(CSF2RA):c.706C>T (p.Arg236Trp) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000689875] | uncertain significance | X | 1294387 | 1294387 | Human | 1 | name , alternate_id |
| 13813048 | CV575464 | single nucleotide variant | NM_172245.4(CSF2RA):c.706C>T (p.Arg236Trp) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000689875] | uncertain significance | Y | 1294387 | 1294387 | Human | 1 | name , alternate_id |
| 13817054 | CV575467 | single nucleotide variant | NM_172245.4(CSF2RA):c.676G>A (p.Val226Ile) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000692748]|not provided [RCV004692122] | uncertain significance | X | 1294357 | 1294357 | Human | 1 | name , alternate_id |
| 13817054 | CV575467 | single nucleotide variant | NM_172245.4(CSF2RA):c.676G>A (p.Val226Ile) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000692748]|not provided [RCV004692122] | uncertain significance | Y | 1294357 | 1294357 | Human | 1 | name , alternate_id |
| 13806140 | CV575471 | single nucleotide variant | NM_172245.4(CSF2RA):c.530G>A (p.Gly177Glu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000700436] | uncertain significance | X | 1290393 | 1290393 | Human | 1 | name , alternate_id |
| 13806140 | CV575471 | single nucleotide variant | NM_172245.4(CSF2RA):c.530G>A (p.Gly177Glu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000700436] | uncertain significance | Y | 1290393 | 1290393 | Human | 1 | name , alternate_id |
| 13809377 | CV575472 | single nucleotide variant | NM_172245.4(CSF2RA):c.692C>T (p.Thr231Met) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000702107] | uncertain significance | X | 1294373 | 1294373 | Human | 1 | name , alternate_id |
| 13809377 | CV575472 | single nucleotide variant | NM_172245.4(CSF2RA):c.692C>T (p.Thr231Met) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000702107] | uncertain significance | Y | 1294373 | 1294373 | Human | 1 | name , alternate_id |
| 14732339 | CV650291 | single nucleotide variant | NM_172245.4(CSF2RA):c.337A>T (p.Asn113Tyr) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000801802] | uncertain significance | Y | 1288636 | 1288636 | Human | 1 | name , alternate_id |
| 14732339 | CV650291 | single nucleotide variant | NM_172245.4(CSF2RA):c.337A>T (p.Asn113Tyr) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000801802] | uncertain significance | X | 1288636 | 1288636 | Human | 1 | name , alternate_id |
| 14737790 | CV650292 | single nucleotide variant | NM_172245.4(CSF2RA):c.352G>T (p.Gly118Cys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000804224] | uncertain significance | Y | 1288767 | 1288767 | Human | 1 | name , alternate_id |
| 14737790 | CV650292 | single nucleotide variant | NM_172245.4(CSF2RA):c.352G>T (p.Gly118Cys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000804224] | uncertain significance | X | 1288767 | 1288767 | Human | 1 | name , alternate_id |
| 14725356 | CV650293 | single nucleotide variant | NM_172245.4(CSF2RA):c.490C>T (p.Arg164Trp) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000815162] | uncertain significance | Y | 1290353 | 1290353 | Human | 1 | name , alternate_id |
| 14725356 | CV650293 | single nucleotide variant | NM_172245.4(CSF2RA):c.490C>T (p.Arg164Trp) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000815162] | uncertain significance | X | 1290353 | 1290353 | Human | 1 | name , alternate_id |
| 14724015 | CV650294 | single nucleotide variant | NM_172245.4(CSF2RA):c.496C>T (p.Pro166Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000814594] | uncertain significance | Y | 1290359 | 1290359 | Human | 1 | name , alternate_id |
| 14724015 | CV650294 | single nucleotide variant | NM_172245.4(CSF2RA):c.496C>T (p.Pro166Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000814594] | uncertain significance | X | 1290359 | 1290359 | Human | 1 | name , alternate_id |
| 14720982 | CV650295 | single nucleotide variant | NM_172245.4(CSF2RA):c.530G>C (p.Gly177Ala) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000796898]|not provided [RCV004584802] | likely benign|uncertain significance | Y | 1290393 | 1290393 | Human | 1 | name , alternate_id |
| 14720982 | CV650295 | single nucleotide variant | NM_172245.4(CSF2RA):c.530G>C (p.Gly177Ala) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000796898]|not provided [RCV004584802] | likely benign|uncertain significance | X | 1290393 | 1290393 | Human | 1 | name , alternate_id |
| 14722726 | CV650296 | single nucleotide variant | NM_172245.4(CSF2RA):c.565C>T (p.Arg189Cys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000814044] | uncertain significance | Y | 1290428 | 1290428 | Human | 1 | name , alternate_id |
| 14722726 | CV650296 | single nucleotide variant | NM_172245.4(CSF2RA):c.565C>T (p.Arg189Cys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000814044] | uncertain significance | X | 1290428 | 1290428 | Human | 1 | name , alternate_id |
| 14721692 | CV650297 | single nucleotide variant | NM_172245.4(CSF2RA):c.596G>A (p.Arg199Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000797206] | uncertain significance | Y | 1290459 | 1290459 | Human | 1 | name , alternate_id |
| 14721692 | CV650297 | single nucleotide variant | NM_172245.4(CSF2RA):c.596G>A (p.Arg199Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000797206] | uncertain significance | X | 1290459 | 1290459 | Human | 1 | name , alternate_id |
| 14713985 | CV650298 | single nucleotide variant | NM_172245.4(CSF2RA):c.912G>C (p.Leu304Phe) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000794269] | uncertain significance | Y | 1300592 | 1300592 | Human | 1 | name , alternate_id |
| 14713985 | CV650298 | single nucleotide variant | NM_172245.4(CSF2RA):c.912G>C (p.Leu304Phe) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000794269] | uncertain significance | X | 1300592 | 1300592 | Human | 1 | name , alternate_id |
| 15197933 | CV729745 | single nucleotide variant | NM_172245.4(CSF2RA):c.967G>A (p.Gly323Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000890209] | benign | X | 1303943 | 1303943 | Human | 1 | name , alternate_id |
| 15197933 | CV729745 | single nucleotide variant | NM_172245.4(CSF2RA):c.967G>A (p.Gly323Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000890209] | benign | Y | 1303943 | 1303943 | Human | 1 | name , alternate_id |
| 15115589 | CV758686 | single nucleotide variant | NM_172245.4(CSF2RA):c.464G>A (p.Arg155Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001397113] | likely benign | X | 1288879 | 1288879 | Human | 1 | name , alternate_id |
| 15115589 | CV758686 | single nucleotide variant | NM_172245.4(CSF2RA):c.464G>A (p.Arg155Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001397113] | likely benign | Y | 1288879 | 1288879 | Human | 1 | name , alternate_id |
| 26891385 | CV850353 | single nucleotide variant | NM_172245.4(CSF2RA):c.347G>A (p.Arg116Lys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001068230] | uncertain significance | X | 1288762 | 1288762 | Human | 1 | name , alternate_id |
| 26891385 | CV850353 | single nucleotide variant | NM_172245.4(CSF2RA):c.347G>A (p.Arg116Lys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001068230] | uncertain significance | Y | 1288762 | 1288762 | Human | 1 | name , alternate_id |
| 26922581 | CV850355 | single nucleotide variant | NM_172245.4(CSF2RA):c.595C>T (p.Arg199Ter) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001062354] | pathogenic | X | 1290458 | 1290458 | Human | 1 | name , alternate_id |
| 26922581 | CV850355 | single nucleotide variant | NM_172245.4(CSF2RA):c.595C>T (p.Arg199Ter) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001062354] | pathogenic | Y | 1290458 | 1290458 | Human | 1 | name , alternate_id |
| 26920636 | CV850356 | single nucleotide variant | NM_172245.4(CSF2RA):c.601A>C (p.Ile201Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001060192] | uncertain significance | X | 1290464 | 1290464 | Human | 1 | name , alternate_id |
| 26920636 | CV850356 | single nucleotide variant | NM_172245.4(CSF2RA):c.601A>C (p.Ile201Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001060192] | uncertain significance | Y | 1290464 | 1290464 | Human | 1 | name , alternate_id |
| 26904306 | CV850357 | single nucleotide variant | NM_172245.4(CSF2RA):c.610C>T (p.Gln204Ter) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001050755] | pathogenic | X | 1290473 | 1290473 | Human | 1 | name , alternate_id |
| 26904306 | CV850357 | single nucleotide variant | NM_172245.4(CSF2RA):c.610C>T (p.Gln204Ter) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001050755] | pathogenic | Y | 1290473 | 1290473 | Human | 1 | name , alternate_id |
| 26890822 | CV850358 | single nucleotide variant | NM_172245.4(CSF2RA):c.789G>C (p.Gln263His) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001046187] | uncertain significance | X | 1295435 | 1295435 | Human | 1 | name , alternate_id |
| 26890822 | CV850358 | single nucleotide variant | NM_172245.4(CSF2RA):c.789G>C (p.Gln263His) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001046187] | uncertain significance | Y | 1295435 | 1295435 | Human | 1 | name , alternate_id |
| 38491416 | CV929843 | single nucleotide variant | NM_172245.4(CSF2RA):c.334C>T (p.Pro112Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001222822]|not provided [RCV004695212] | uncertain significance | X | 1288633 | 1288633 | Human | 1 | name , alternate_id |
| 38491416 | CV929843 | single nucleotide variant | NM_172245.4(CSF2RA):c.334C>T (p.Pro112Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001222822]|not provided [RCV004695212] | uncertain significance | Y | 1288633 | 1288633 | Human | 1 | name , alternate_id |
| 38478368 | CV929844 | single nucleotide variant | NM_172245.4(CSF2RA):c.358G>A (p.Ala120Thr) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001216564] | uncertain significance | X | 1288773 | 1288773 | Human | 1 | name , alternate_id |
| 38478368 | CV929844 | single nucleotide variant | NM_172245.4(CSF2RA):c.358G>A (p.Ala120Thr) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001216564] | uncertain significance | Y | 1288773 | 1288773 | Human | 1 | name , alternate_id |
| 38491813 | CV929845 | single nucleotide variant | NM_172245.4(CSF2RA):c.428C>T (p.Thr143Met) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001223096] | uncertain significance | X | 1288843 | 1288843 | Human | 1 | name , alternate_id |
| 38491813 | CV929845 | single nucleotide variant | NM_172245.4(CSF2RA):c.428C>T (p.Thr143Met) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001223096] | uncertain significance | Y | 1288843 | 1288843 | Human | 1 | name , alternate_id |
| 38474278 | CV939705 | single nucleotide variant | NM_172245.4(CSF2RA):c.580G>A (p.Val194Ile) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001203749] | uncertain significance | X | 1290443 | 1290443 | Human | 1 | name , alternate_id |
| 38474278 | CV939705 | single nucleotide variant | NM_172245.4(CSF2RA):c.580G>A (p.Val194Ile) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001203749] | uncertain significance | Y | 1290443 | 1290443 | Human | 1 | name , alternate_id |
| 38487810 | CV939706 | single nucleotide variant | NM_172245.4(CSF2RA):c.625C>G (p.Leu209Val) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001209471] | uncertain significance | X | 1290488 | 1290488 | Human | 1 | name , alternate_id |
| 38487810 | CV939706 | single nucleotide variant | NM_172245.4(CSF2RA):c.625C>G (p.Leu209Val) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001209471] | uncertain significance | Y | 1290488 | 1290488 | Human | 1 | name , alternate_id |
| 38457804 | CV939707 | single nucleotide variant | NM_172245.4(CSF2RA):c.836A>C (p.Asn279Thr) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001211231] | uncertain significance | X | 1300516 | 1300516 | Human | 1 | name , alternate_id |
| 38457804 | CV939707 | single nucleotide variant | NM_172245.4(CSF2RA):c.836A>C (p.Asn279Thr) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001211231] | uncertain significance | Y | 1300516 | 1300516 | Human | 1 | name , alternate_id |
| 38489808 | CV939708 | single nucleotide variant | NM_172245.4(CSF2RA):c.904C>T (p.Arg302Cys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001210368] | uncertain significance | X | 1300584 | 1300584 | Human | 1 | name , alternate_id |
| 38489808 | CV939708 | single nucleotide variant | NM_172245.4(CSF2RA):c.904C>T (p.Arg302Cys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001210368] | uncertain significance | Y | 1300584 | 1300584 | Human | 1 | name , alternate_id |
| 38482521 | CV939709 | single nucleotide variant | NM_172245.4(CSF2RA):c.988C>T (p.Leu330Phe) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001207294] | uncertain significance | X | 1303964 | 1303964 | Human | 1 | name , alternate_id |
| 38482521 | CV939709 | single nucleotide variant | NM_172245.4(CSF2RA):c.988C>T (p.Leu330Phe) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001207294] | uncertain significance | Y | 1303964 | 1303964 | Human | 1 | name , alternate_id |
| 38470701 | CV951917 | single nucleotide variant | NM_172245.4(CSF2RA):c.436C>T (p.Arg146Cys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001231041] | uncertain significance | X | 1288851 | 1288851 | Human | 1 | name , alternate_id |
| 38470701 | CV951917 | single nucleotide variant | NM_172245.4(CSF2RA):c.436C>T (p.Arg146Cys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001231041] | uncertain significance | Y | 1288851 | 1288851 | Human | 1 | name , alternate_id |
| 38484738 | CV951918 | single nucleotide variant | NM_172245.4(CSF2RA):c.682T>C (p.Cys228Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001236491] | uncertain significance | X | 1294363 | 1294363 | Human | 1 | name , alternate_id |
| 38484738 | CV951918 | single nucleotide variant | NM_172245.4(CSF2RA):c.682T>C (p.Cys228Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001236491] | uncertain significance | Y | 1294363 | 1294363 | Human | 1 | name , alternate_id |
| 38482733 | CV951919 | single nucleotide variant | NM_172245.4(CSF2RA):c.826G>A (p.Asp276Asn) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001235643] | uncertain significance | X | 1300506 | 1300506 | Human | 1 | name , alternate_id |
| 38482733 | CV951919 | single nucleotide variant | NM_172245.4(CSF2RA):c.826G>A (p.Asp276Asn) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001235643] | uncertain significance | Y | 1300506 | 1300506 | Human | 1 | name , alternate_id |
| 38492710 | CV959382 | single nucleotide variant | NM_172245.4(CSF2RA):c.952G>A (p.Asp318Asn) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001240265] | uncertain significance | X | 1303928 | 1303928 | Human | 1 | name , alternate_id |
| 38492710 | CV959382 | single nucleotide variant | NM_172245.4(CSF2RA):c.952G>A (p.Asp318Asn) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001240265] | uncertain significance | Y | 1303928 | 1303928 | Human | 1 | name , alternate_id |
| 126753673 | CV999910 | single nucleotide variant | NM_172245.4(CSF2RA):c.442G>A (p.Val148Ile) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001307444] | uncertain significance | X | 1288857 | 1288857 | Human | 1 | name , alternate_id |
| 126753673 | CV999910 | single nucleotide variant | NM_172245.4(CSF2RA):c.442G>A (p.Val148Ile) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001307444] | uncertain significance | Y | 1288857 | 1288857 | Human | 1 | name , alternate_id |
| 126768380 | CV1015102 | single nucleotide variant | NM_172245.4(CSF2RA):c.1171G>A (p.Glu391Lys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001321332] | uncertain significance | X | 1309447 | 1309447 | Human | 1 | name , alternate_id |
| 126768380 | CV1015102 | single nucleotide variant | NM_172245.4(CSF2RA):c.1171G>A (p.Glu391Lys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001321332] | uncertain significance | Y | 1309447 | 1309447 | Human | 1 | name , alternate_id |
| 126728853 | CV1035670 | single nucleotide variant | NM_172245.4(CSF2RA):c.1129A>C (p.Ile377Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001349002] | uncertain significance | X | 1309405 | 1309405 | Human | 1 | name , alternate_id |
| 126728853 | CV1035670 | single nucleotide variant | NM_172245.4(CSF2RA):c.1129A>C (p.Ile377Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001349002] | uncertain significance | Y | 1309405 | 1309405 | Human | 1 | name , alternate_id |
| 126922621 | CV1052572 | single nucleotide variant | NM_172245.4(CSF2RA):c.1006C>T (p.Leu336Phe) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001364881] | uncertain significance | X | 1303982 | 1303982 | Human | 1 | name , alternate_id |
| 126922621 | CV1052572 | single nucleotide variant | NM_172245.4(CSF2RA):c.1006C>T (p.Leu336Phe) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001364881] | uncertain significance | Y | 1303982 | 1303982 | Human | 1 | name , alternate_id |
| 126918186 | CV1052573 | single nucleotide variant | NM_172245.4(CSF2RA):c.1111G>C (p.Glu371Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001372512] | uncertain significance | X | 1305513 | 1305513 | Human | 1 | name , alternate_id |
| 126918186 | CV1052573 | single nucleotide variant | NM_172245.4(CSF2RA):c.1111G>C (p.Glu371Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001372512] | uncertain significance | Y | 1305513 | 1305513 | Human | 1 | name , alternate_id |
| 126918726 | CV1052574 | single nucleotide variant | NM_172245.4(CSF2RA):c.1148C>T (p.Pro383Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001372828] | uncertain significance | X | 1309424 | 1309424 | Human | 1 | name , alternate_id |
| 126918726 | CV1052574 | single nucleotide variant | NM_172245.4(CSF2RA):c.1148C>T (p.Pro383Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001372828] | uncertain significance | Y | 1309424 | 1309424 | Human | 1 | name , alternate_id |
| 151784758 | CV1344732 | single nucleotide variant | NM_172245.4(CSF2RA):c.1021G>A (p.Val341Ile) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001989459] | uncertain significance | X | 1303997 | 1303997 | Human | 1 | name , alternate_id |
| 151784758 | CV1344732 | single nucleotide variant | NM_172245.4(CSF2RA):c.1021G>A (p.Val341Ile) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001989459] | uncertain significance | Y | 1303997 | 1303997 | Human | 1 | name , alternate_id |
| 151765561 | CV1358833 | single nucleotide variant | NM_172245.4(CSF2RA):c.1168C>T (p.Arg390Cys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001970661] | uncertain significance | X | 1309444 | 1309444 | Human | 1 | name , alternate_id |
| 151765561 | CV1358833 | single nucleotide variant | NM_172245.4(CSF2RA):c.1168C>T (p.Arg390Cys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001970661] | uncertain significance | Y | 1309444 | 1309444 | Human | 1 | name , alternate_id |
| 151817878 | CV1385043 | single nucleotide variant | NM_172245.4(CSF2RA):c.1123G>A (p.Glu375Lys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001992480] | uncertain significance | X | 1305525 | 1305525 | Human | 1 | name , alternate_id |
| 151817878 | CV1385043 | single nucleotide variant | NM_172245.4(CSF2RA):c.1123G>A (p.Glu375Lys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001992480] | uncertain significance | Y | 1305525 | 1305525 | Human | 1 | name , alternate_id |
| 151821546 | CV1387340 | single nucleotide variant | NM_172245.4(CSF2RA):c.1186G>A (p.Val396Met) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001992824] | uncertain significance | X | 1309462 | 1309462 | Human | 1 | name , alternate_id |
| 151821546 | CV1387340 | single nucleotide variant | NM_172245.4(CSF2RA):c.1186G>A (p.Val396Met) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001992824] | uncertain significance | Y | 1309462 | 1309462 | Human | 1 | name , alternate_id |
| 151793010 | CV1411266 | single nucleotide variant | NM_172245.4(CSF2RA):c.1015G>A (p.Gly339Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002010876] | uncertain significance | X | 1303991 | 1303991 | Human | 1 | name , alternate_id |
| 151793010 | CV1411266 | single nucleotide variant | NM_172245.4(CSF2RA):c.1015G>A (p.Gly339Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002010876] | uncertain significance | Y | 1303991 | 1303991 | Human | 1 | name , alternate_id |
| 151777523 | CV1411748 | single nucleotide variant | NM_172245.4(CSF2RA):c.1143C>G (p.Phe381Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001930118] | uncertain significance | X | 1309419 | 1309419 | Human | 1 | name , alternate_id |
| 151777523 | CV1411748 | single nucleotide variant | NM_172245.4(CSF2RA):c.1143C>G (p.Phe381Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001930118] | uncertain significance | Y | 1309419 | 1309419 | Human | 1 | name , alternate_id |
| 151827398 | CV1471990 | single nucleotide variant | NM_172245.4(CSF2RA):c.1123G>C (p.Glu375Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002030465] | uncertain significance | X | 1305525 | 1305525 | Human | 1 | name , alternate_id |
| 151827398 | CV1471990 | single nucleotide variant | NM_172245.4(CSF2RA):c.1123G>C (p.Glu375Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002030465] | uncertain significance | Y | 1305525 | 1305525 | Human | 1 | name , alternate_id |
| 151844641 | CV1501491 | single nucleotide variant | NM_172245.4(CSF2RA):c.1027G>T (p.Gly343Cys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002015751] | uncertain significance | X | 1304003 | 1304003 | Human | 1 | name , alternate_id |
| 151844641 | CV1501491 | single nucleotide variant | NM_172245.4(CSF2RA):c.1027G>T (p.Gly343Cys) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002015751] | uncertain significance | Y | 1304003 | 1304003 | Human | 1 | name , alternate_id |
| 151845637 | CV1501645 | single nucleotide variant | NM_172245.4(CSF2RA):c.1037T>A (p.Phe346Tyr) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002015869] | uncertain significance | X | 1304013 | 1304013 | Human | 1 | name , alternate_id |
| 151845637 | CV1501645 | single nucleotide variant | NM_172245.4(CSF2RA):c.1037T>A (p.Phe346Tyr) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002015869] | uncertain significance | Y | 1304013 | 1304013 | Human | 1 | name , alternate_id |
| 151719391 | CV1505855 | single nucleotide variant | NM_172245.4(CSF2RA):c.1045T>C (p.Phe349Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002039845] | uncertain significance | X | 1305447 | 1305447 | Human | 1 | name , alternate_id |
| 151719391 | CV1505855 | single nucleotide variant | NM_172245.4(CSF2RA):c.1045T>C (p.Phe349Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002039845] | uncertain significance | Y | 1305447 | 1305447 | Human | 1 | name , alternate_id |
| 156380972 | CV1873607 | single nucleotide variant | NM_172245.4(CSF2RA):c.1070C>A (p.Pro357Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003067164] | uncertain significance | X | 1305472 | 1305472 | Human | 1 | name , alternate_id |
| 156380972 | CV1873607 | single nucleotide variant | NM_172245.4(CSF2RA):c.1070C>A (p.Pro357Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003067164] | uncertain significance | Y | 1305472 | 1305472 | Human | 1 | name , alternate_id |
| 156245871 | CV1890342 | single nucleotide variant | NM_172245.4(CSF2RA):c.1169G>A (p.Arg390His) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003085921] | uncertain significance | X | 1309445 | 1309445 | Human | 1 | name , alternate_id |
| 156245871 | CV1890342 | single nucleotide variant | NM_172245.4(CSF2RA):c.1169G>A (p.Arg390His) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003085921] | uncertain significance | Y | 1309445 | 1309445 | Human | 1 | name , alternate_id |
| 156034226 | CV2152788 | single nucleotide variant | NM_172245.4(CSF2RA):c.1172A>C (p.Glu391Ala) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003018806] | uncertain significance | X | 1309448 | 1309448 | Human | 1 | name , alternate_id |
| 156034226 | CV2152788 | single nucleotide variant | NM_172245.4(CSF2RA):c.1172A>C (p.Glu391Ala) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003018806] | uncertain significance | Y | 1309448 | 1309448 | Human | 1 | name , alternate_id |
| 13822445 | CV575470 | single nucleotide variant | NM_172245.4(CSF2RA):c.1006C>G (p.Leu336Val) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000697330]|not provided [RCV004692148] | uncertain significance | Y | 1303982 | 1303982 | Human | 1 | name , alternate_id |
| 13822445 | CV575470 | single nucleotide variant | NM_172245.4(CSF2RA):c.1006C>G (p.Leu336Val) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000697330]|not provided [RCV004692148] | uncertain significance | X | 1303982 | 1303982 | Human | 1 | name , alternate_id |
| 13815274 | CV575475 | single nucleotide variant | NM_172245.4(CSF2RA):c.1016G>T (p.Gly339Val) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000705602] | uncertain significance | X | 1303992 | 1303992 | Human | 1 | name , alternate_id |
| 13815274 | CV575475 | single nucleotide variant | NM_172245.4(CSF2RA):c.1016G>T (p.Gly339Val) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000705602] | uncertain significance | Y | 1303992 | 1303992 | Human | 1 | name , alternate_id |
| 14735175 | CV650299 | single nucleotide variant | NM_172245.4(CSF2RA):c.1034T>C (p.Leu345Pro) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000819471] | uncertain significance | Y | 1304010 | 1304010 | Human | 1 | name , alternate_id |
| 14735175 | CV650299 | single nucleotide variant | NM_172245.4(CSF2RA):c.1034T>C (p.Leu345Pro) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000819471] | uncertain significance | X | 1304010 | 1304010 | Human | 1 | name , alternate_id |
| 14729264 | CV650300 | single nucleotide variant | NM_172245.4(CSF2RA):c.1055T>G (p.Ile352Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000800410] | uncertain significance | Y | 1305457 | 1305457 | Human | 1 | name , alternate_id |
| 14729264 | CV650300 | single nucleotide variant | NM_172245.4(CSF2RA):c.1055T>G (p.Ile352Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000800410] | uncertain significance | X | 1305457 | 1305457 | Human | 1 | name , alternate_id |
| 14729454 | CV650301 | single nucleotide variant | NM_172245.4(CSF2RA):c.1061G>A (p.Arg354Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000800495] | uncertain significance | Y | 1305463 | 1305463 | Human | 1 | name , alternate_id |
| 14729454 | CV650301 | single nucleotide variant | NM_172245.4(CSF2RA):c.1061G>A (p.Arg354Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000800495] | uncertain significance | X | 1305463 | 1305463 | Human | 1 | name , alternate_id |
| 14730507 | CV650302 | single nucleotide variant | NM_172245.4(CSF2RA):c.1156G>A (p.Gly386Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000800984]|not provided [RCV002261210] | uncertain significance | Y | 1309432 | 1309432 | Human | 1 | name , alternate_id |
| 14730507 | CV650302 | single nucleotide variant | NM_172245.4(CSF2RA):c.1156G>A (p.Gly386Arg) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000800984]|not provided [RCV002261210] | uncertain significance | X | 1309432 | 1309432 | Human | 1 | name , alternate_id |
| 14733371 | CV650303 | single nucleotide variant | NM_172245.4(CSF2RA):c.1168C>G (p.Arg390Gly) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000818672] | uncertain significance | Y | 1309444 | 1309444 | Human | 1 | name , alternate_id |
| 14733371 | CV650303 | single nucleotide variant | NM_172245.4(CSF2RA):c.1168C>G (p.Arg390Gly) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000818672] | uncertain significance | X | 1309444 | 1309444 | Human | 1 | name , alternate_id |
| 26897111 | CV850359 | single nucleotide variant | NM_172245.4(CSF2RA):c.1064T>C (p.Leu355Pro) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001048373] | uncertain significance | X | 1305466 | 1305466 | Human | 1 | name , alternate_id |
| 26897111 | CV850359 | single nucleotide variant | NM_172245.4(CSF2RA):c.1064T>C (p.Leu355Pro) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001048373] | uncertain significance | Y | 1305466 | 1305466 | Human | 1 | name , alternate_id |
| 34896688 | CV917375 | single nucleotide variant | NM_172245.4(CSF2RA):c.1118A>T (p.Glu373Val) | not specified [RCV001194228] | uncertain significance | X | 1305520 | 1305520 | Human | | name |
| 34896688 | CV917375 | single nucleotide variant | NM_172245.4(CSF2RA):c.1118A>T (p.Glu373Val) | not specified [RCV001194228] | uncertain significance | Y | 1305520 | 1305520 | Human | | name |
| 38478213 | CV929846 | single nucleotide variant | NM_172245.4(CSF2RA):c.1070C>T (p.Pro357Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001216506] | uncertain significance | X | 1305472 | 1305472 | Human | 1 | name , alternate_id |
| 38478213 | CV929846 | single nucleotide variant | NM_172245.4(CSF2RA):c.1070C>T (p.Pro357Leu) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001216506] | uncertain significance | Y | 1305472 | 1305472 | Human | 1 | name , alternate_id |
| 38485945 | CV951920 | single nucleotide variant | NM_172245.4(CSF2RA):c.1027G>A (p.Gly343Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001237000] | uncertain significance | X | 1304003 | 1304003 | Human | 1 | name , alternate_id |
| 38485945 | CV951920 | single nucleotide variant | NM_172245.4(CSF2RA):c.1027G>A (p.Gly343Ser) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001237000] | uncertain significance | Y | 1304003 | 1304003 | Human | 1 | name , alternate_id |
| 152982832 | CV1677693 | duplication | NM_172245.4(CSF2RA):c.920_921dup (p.Ser308fs) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002249846] | pathogenic | X | 1300599 | 1300600 | Human | 1 | name , alternate_id |
| 152982832 | CV1677693 | duplication | NM_172245.4(CSF2RA):c.920_921dup (p.Ser308fs) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV002249846] | pathogenic | Y | 1300599 | 1300600 | Human | 1 | name , alternate_id |
| 9688444 | CV176763 | single nucleotide variant | NM_001161529.1(CSF2RA):c.491G>A (p.Arg164Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000560401]|not provided [RCV001701617]|not specified [RCV000150363] | benign|likely benign | Y | 1290354 | 1290354 | Human | 1 | name , alternate_id |
| 9688444 | CV176763 | single nucleotide variant | NM_001161529.1(CSF2RA):c.491G>A (p.Arg164Gln) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000560401]|not provided [RCV001701617]|not specified [RCV000150363] | benign|likely benign | X | 1290354 | 1290354 | Human | 1 | name , alternate_id |
| 156289265 | CV2155069 | microsatellite | NM_172245.4(CSF2RA):c.350_353del (p.Glu117fs) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003009901] | pathogenic | X | 1288761 | 1288764 | Human | | name , alternate_id |
| 156289265 | CV2155069 | microsatellite | NM_172245.4(CSF2RA):c.350_353del (p.Glu117fs) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV003009901] | pathogenic | Y | 1288761 | 1288764 | Human | | name , alternate_id |
| 26915174 | CV850354 | deletion | NM_172245.4(CSF2RA):c.368_377del (p.Asn123fs) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001041175] | pathogenic | X | 1288783 | 1288792 | Human | 1 | name , alternate_id |
| 26915174 | CV850354 | deletion | NM_172245.4(CSF2RA):c.368_377del (p.Asn123fs) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001041175] | pathogenic | Y | 1288783 | 1288792 | Human | 1 | name , alternate_id |
| 151756823 | CV1382009 | deletion | NM_172245.4(CSF2RA):c.477_479del (p.Arg161del) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001969744] | uncertain significance | X | 1290338 | 1290340 | Human | 1 | name , alternate_id |
| 151756823 | CV1382009 | deletion | NM_172245.4(CSF2RA):c.477_479del (p.Arg161del) | Surfactant metabolism dysfunction, pulmonary, 4 [RCV001969744] | uncertain significance | Y | 1290338 | 1290340 | Human | 1 | name , alternate_id |
| 8637769 | CV92995 | single nucleotide variant | NM_001161529.1(CSF2RA):c.1153G>A (p.Glu385Lys) | Malignant melanoma [RCV000073093] | not provided | X | 1309429 | 1309429 | Human | | name |
| 8637769 | CV92995 | single nucleotide variant | NM_001161529.1(CSF2RA):c.1153G>A (p.Glu385Lys) | Malignant melanoma [RCV000073093] | not provided | Y | 1309429 | 1309429 | Human | | name |
| 8561613 | CV25393 | deletion | NG_012280.1:g.(22122_24720)_(45680_?)del | Surfactant metabolism dysfunction, pulmonary, 4 [RCV000011067] | pathogenic | X | 1288519 | 1309479 | Human | 1 | alternate_id |