| 405291462 | CV3205734 | single nucleotide variant | NM_005264.8(GFRA1):c.41-6C>A | GFRA1-related disorder [RCV003963872] | likely benign | 10 | 116271121 | 116271121 | Human | | name , trait , alternate_id |
| 405283677 | CV3191797 | single nucleotide variant | NM_005264.8(GFRA1):c.770+5G>T | GFRA1-related disorder [RCV003921896] | likely benign | 10 | 116125216 | 116125216 | Human | | name , trait , alternate_id |
| 405257917 | CV3207956 | single nucleotide variant | NM_005264.8(GFRA1):c.880+9C>T | GFRA1-related disorder [RCV003941425] | likely benign | 10 | 116096646 | 116096646 | Human | | name , trait , alternate_id |
| 405277298 | CV3195386 | single nucleotide variant | NM_005264.8(GFRA1):c.1251+8T>G | GFRA1-related disorder [RCV003904174] | likely benign | 10 | 116065565 | 116065565 | Human | | name , trait , alternate_id |
| 8651640 | CV128215 | single nucleotide variant | NM_001145453.1(GFRA1):c.756-10029C>T | Lung cancer [RCV000108702] | uncertain significance | 10 | 116106793 | 116106793 | Human | | name |
| 8651641 | CV128216 | single nucleotide variant | NM_001145453.1(GFRA1):c.756-11207C>G | Lung cancer [RCV000108703] | uncertain significance | 10 | 116107971 | 116107971 | Human | | name |
| 8651642 | CV128217 | single nucleotide variant | NM_001145453.1(GFRA1):c.756-12667A>G | Lung cancer [RCV000108704] | uncertain significance | 10 | 116109431 | 116109431 | Human | | name |
| 8651643 | CV128218 | single nucleotide variant | NM_001145453.1(GFRA1):c.755+12853C>A | Lung cancer [RCV000108705] | uncertain significance | 10 | 116112368 | 116112368 | Human | | name |
| 8651644 | CV128219 | single nucleotide variant | NM_001145453.1(GFRA1):c.419-17919G>C | Lung cancer [RCV000108706] | uncertain significance | 10 | 116143476 | 116143476 | Human | | name |
| 8651645 | CV128220 | single nucleotide variant | NM_001145453.1(GFRA1):c.419-20948G>T | Lung cancer [RCV000108707] | uncertain significance | 10 | 116146505 | 116146505 | Human | | name |
| 8651646 | CV128221 | single nucleotide variant | NM_001145453.1(GFRA1):c.419-47730C>T | Lung cancer [RCV000108708] | uncertain significance | 10 | 116173287 | 116173287 | Human | | name |
| 8651647 | CV128222 | single nucleotide variant | NM_001145453.1(GFRA1):c.418+67951C>G | Lung cancer [RCV000108709] | uncertain significance | 10 | 116201552 | 116201552 | Human | | name |
| 15174157 | CV679089 | single nucleotide variant | NM_005264.8(GFRA1):c.1A>T (p.Met1Leu) | Aganglionic megacolon [RCV000984709] | pathogenic|uncertain significance | 10 | 116272029 | 116272029 | Human | 2 | name |
| 405268748 | CV3199070 | single nucleotide variant | NM_005264.8(GFRA1):c.282G>A (p.Lys94=) | GFRA1-related disorder [RCV003912175] | benign | 10 | 116270874 | 116270874 | Human | | name , trait , alternate_id |
| 405280372 | CV3200739 | single nucleotide variant | NM_005264.8(GFRA1):c.552C>T (p.Asn184=) | GFRA1-related disorder [RCV003977364] | benign | 10 | 116125439 | 116125439 | Human | | name , trait , alternate_id |
| 596946002 | CV3548169 | single nucleotide variant | NM_005264.8(GFRA1):c.519G>A (p.Ala173=) | not provided [RCV004809500] | likely benign | 10 | 116125472 | 116125472 | Human | | name |
| 15140901 | CV712177 | single nucleotide variant | NM_005264.8(GFRA1):c.747C>T (p.Ser249=) | GFRA1-related disorder [RCV003916210]|not provided [RCV000966219] | benign|likely benign | 10 | 116125244 | 116125244 | Human | 1 | name , trait , alternate_id |
| 15134603 | CV712178 | single nucleotide variant | NM_005264.8(GFRA1):c.41A>C (p.Asp14Ala) | GFRA1-related disorder [RCV003916173]|not provided [RCV000965154] | benign | 10 | 116271115 | 116271115 | Human | 1 | name , trait , alternate_id |
| 15118442 | CV751968 | single nucleotide variant | NM_005264.8(GFRA1):c.861C>T (p.Leu287=) | not provided [RCV000917975] | likely benign | 10 | 116096674 | 116096674 | Human | | name |
| 15196370 | CV751969 | single nucleotide variant | NM_005264.8(GFRA1):c.831T>C (p.Cys277=) | not provided [RCV000911677] | likely benign | 10 | 116096704 | 116096704 | Human | | name |
| 15162711 | CV751970 | single nucleotide variant | NM_005264.8(GFRA1):c.450A>G (p.Lys150=) | not provided [RCV000925952] | likely benign | 10 | 116125541 | 116125541 | Human | | name |
| 151235373 | CV1318654 | single nucleotide variant | NM_005264.8(GFRA1):c.253T>A (p.Tyr85Asn) | GFRA1-related disorder [RCV003976190]|not provided [RCV004718975]|not specified [RCV001794984] | benign | 10 | 116270903 | 116270903 | Human | 4 | name , trait , alternate_id |
| 151235373 | CV1318654 | single nucleotide variant | NM_005264.8(GFRA1):c.253T>A (p.Tyr85Asn) | GFRA1-related disorder [RCV003976190]|not provided [RCV004718975]|not specified [RCV001794984] | benign | 10 | 116270903 | 116270904 | Human | 4 | name , trait , alternate_id |
| 156037236 | CV2313439 | single nucleotide variant | NM_005264.8(GFRA1):c.200A>G (p.Glu67Gly) | not specified [RCV004163756] | uncertain significance | 10 | 116270956 | 116270956 | Human | | name |
| 329390682 | CV2440282 | single nucleotide variant | NM_005264.8(GFRA1):c.257A>G (p.Asn86Ser) | not specified [RCV004262767] | uncertain significance | 10 | 116270899 | 116270899 | Human | | name |
| 405289003 | CV3204915 | single nucleotide variant | NM_005264.8(GFRA1):c.1002C>T (p.Asp334=) | GFRA1-related disorder [RCV003961560] | benign | 10 | 116093715 | 116093715 | Human | | name , trait , alternate_id |
| 405279546 | CV3217519 | single nucleotide variant | NM_005264.8(GFRA1):c.1392A>G (p.Thr464=) | GFRA1-related disorder [RCV003976913] | likely benign | 10 | 116064404 | 116064404 | Human | | name , trait , alternate_id |
| 408367260 | CV3508580 | duplication | NM_005264.8(GFRA1):c.792dup (p.Thr265fs) | GFRA1-related disorder [RCV004758325]|not provided [RCV004818796] | pathogenic|likely pathogenic | 10 | 116096742 | 116096743 | Human | 1 | name , trait , alternate_id |
| 598250696 | CV3967083 | single nucleotide variant | NM_005264.8(GFRA1):c.282G>C (p.Lys94Asn) | not specified [RCV005345754] | uncertain significance | 10 | 116270874 | 116270874 | Human | | name |
| 15199794 | CV701193 | single nucleotide variant | NM_005264.8(GFRA1):c.1344G>C (p.Leu448=) | not provided [RCV000957142] | likely benign | 10 | 116064452 | 116064452 | Human | | name |
| 152982121 | CV1679084 | single nucleotide variant | NM_005264.8(GFRA1):c.676C>T (p.Arg226Ter) | Renal hypodysplasia/aplasia 4 [RCV002248437] | pathogenic|likely pathogenic | 10 | 116125315 | 116125315 | Human | 1 | name |
| 152982122 | CV1679085 | deletion | NM_005264.8(GFRA1):c.1294del (p.Thr432fs) | Renal hypodysplasia/aplasia 4 [RCV002248438] | pathogenic | 10 | 116064502 | 116064502 | Human | 1 | name |
| 152982123 | CV1679086 | single nucleotide variant | NM_005264.8(GFRA1):c.628G>T (p.Gly210Ter) | Renal hypodysplasia/aplasia 4 [RCV002248439] | pathogenic | 10 | 116125363 | 116125363 | Human | 1 | name |
| 155268239 | CV1701676 | single nucleotide variant | NM_005264.8(GFRA1):c.362A>G (p.Tyr121Cys) | Renal hypodysplasia/aplasia 4 [RCV002283906] | uncertain significance | 10 | 116269559 | 116269559 | Human | 1 | name |
| 10411761 | CV188096 | single nucleotide variant | NM_005264.8(GFRA1):c.779T>C (p.Leu260Pro) | Hirschsprung disease, susceptibility to, 1 [RCV000201303] | uncertain significance | 10 | 116096756 | 116096756 | Human | 1 | name |
| 156074208 | CV2201461 | single nucleotide variant | NM_005264.8(GFRA1):c.433G>C (p.Val145Leu) | not specified [RCV004079613] | uncertain significance | 10 | 116211631 | 116211631 | Human | | name |
| 155961334 | CV2249696 | single nucleotide variant | NM_005264.8(GFRA1):c.804G>T (p.Gln268His) | not specified [RCV004120680] | uncertain significance | 10 | 116096731 | 116096731 | Human | | name |
| 156294114 | CV2306389 | single nucleotide variant | NM_005264.8(GFRA1):c.725A>G (p.Asn242Ser) | not specified [RCV004163084] | uncertain significance | 10 | 116125266 | 116125266 | Human | | name |
| 156157765 | CV2314477 | single nucleotide variant | NM_005264.8(GFRA1):c.568C>T (p.Arg190Cys) | not specified [RCV004168581] | uncertain significance | 10 | 116125423 | 116125423 | Human | | name |
| 156179210 | CV2331374 | single nucleotide variant | NM_005264.8(GFRA1):c.551A>G (p.Asn184Ser) | not specified [RCV004184013] | uncertain significance | 10 | 116125440 | 116125440 | Human | | name |
| 156327852 | CV2332162 | single nucleotide variant | NM_005264.8(GFRA1):c.776G>A (p.Arg259His) | not specified [RCV004189198] | uncertain significance | 10 | 116096759 | 116096759 | Human | | name |
| 329350634 | CV2421756 | single nucleotide variant | NM_005264.8(GFRA1):c.671G>A (p.Arg224Gln) | not provided [RCV003159459] | uncertain significance | 10 | 116125320 | 116125320 | Human | | name |
| 329392990 | CV2469147 | single nucleotide variant | NM_005264.8(GFRA1):c.610C>T (p.Pro204Ser) | not specified [RCV004274372] | uncertain significance | 10 | 116125381 | 116125381 | Human | | name |
| 329398494 | CV2471568 | single nucleotide variant | NM_005264.8(GFRA1):c.847G>A (p.Ala283Thr) | not specified [RCV004286869] | uncertain significance | 10 | 116096688 | 116096688 | Human | | name |
| 329398497 | CV2471569 | single nucleotide variant | NM_005264.8(GFRA1):c.848C>A (p.Ala283Asp) | not specified [RCV004286870] | uncertain significance | 10 | 116096687 | 116096687 | Human | | name |
| 401899077 | CV2786008 | single nucleotide variant | NM_005264.8(GFRA1):c.325A>G (p.Ser109Gly) | not specified [RCV004359842] | uncertain significance | 10 | 116270831 | 116270831 | Human | | name |
| 401882265 | CV2793427 | single nucleotide variant | NM_005264.8(GFRA1):c.782C>T (p.Ala261Val) | not specified [RCV004362519] | uncertain significance | 10 | 116096753 | 116096753 | Human | | name |
| 405290103 | CV3214069 | single nucleotide variant | NM_005264.8(GFRA1):c.650G>A (p.Arg217Gln) | GFRA1-related disorder [RCV003926910] | likely benign | 10 | 116125341 | 116125341 | Human | | name , trait , alternate_id |
| 405266872 | CV3218420 | single nucleotide variant | NM_005264.8(GFRA1):c.755C>T (p.Thr252Met) | GFRA1-related disorder [RCV003947257] | likely benign | 10 | 116125236 | 116125236 | Human | | name , trait , alternate_id |
| 405786762 | CV3258330 | single nucleotide variant | NM_005264.8(GFRA1):c.633G>A (p.Met211Ile) | not specified [RCV004387834] | uncertain significance | 10 | 116125358 | 116125358 | Human | | name |
| 405786766 | CV3258331 | single nucleotide variant | NM_005264.8(GFRA1):c.754A>G (p.Thr252Ala) | not specified [RCV004387835] | uncertain significance | 10 | 116125237 | 116125237 | Human | | name |
| 407512900 | CV3433033 | single nucleotide variant | NM_005264.8(GFRA1):c.620A>G (p.His207Arg) | not specified [RCV004626950] | uncertain significance | 10 | 116125371 | 116125371 | Human | | name |
| 407512903 | CV3433034 | single nucleotide variant | NM_005264.8(GFRA1):c.353A>T (p.Asp118Val) | not specified [RCV004626951] | uncertain significance | 10 | 116269568 | 116269568 | Human | | name |
| 407503822 | CV3433035 | single nucleotide variant | NM_005264.8(GFRA1):c.658G>A (p.Ala220Thr) | not specified [RCV004623872] | uncertain significance | 10 | 116125333 | 116125333 | Human | | name |
| 597758878 | CV3684192 | single nucleotide variant | NM_005264.8(GFRA1):c.326G>A (p.Ser109Asn) | not specified [RCV004925383] | uncertain significance | 10 | 116270830 | 116270830 | Human | | name |
| 597758883 | CV3684193 | single nucleotide variant | NM_005264.8(GFRA1):c.490G>A (p.Asp164Asn) | not specified [RCV004925384] | uncertain significance | 10 | 116125501 | 116125501 | Human | | name |
| 597705291 | CV3684195 | single nucleotide variant | NM_005264.8(GFRA1):c.809A>G (p.Glu270Gly) | not specified [RCV004916874] | uncertain significance | 10 | 116096726 | 116096726 | Human | | name |
| 598220180 | CV3967082 | single nucleotide variant | NM_005264.8(GFRA1):c.563A>C (p.Asn188Thr) | not specified [RCV005340410] | uncertain significance | 10 | 116125428 | 116125428 | Human | | name |
| 155906273 | CV2283461 | single nucleotide variant | NM_005264.8(GFRA1):c.1217A>C (p.Asn406Thr) | not specified [RCV004139681] | uncertain significance | 10 | 116065607 | 116065607 | Human | | name |
| 155908013 | CV2387193 | single nucleotide variant | NM_005264.8(GFRA1):c.1145G>C (p.Gly382Ala) | not specified [RCV004238297] | uncertain significance | 10 | 116089793 | 116089793 | Human | | name |
| 401746849 | CV2691998 | single nucleotide variant | NM_005264.8(GFRA1):c.1037G>A (p.Gly346Asp) | not specified [RCV004301725] | uncertain significance | 10 | 116089901 | 116089901 | Human | | name |
| 401764330 | CV2727909 | single nucleotide variant | NM_005264.8(GFRA1):c.1229A>G (p.Asn410Ser) | not specified [RCV004324098] | likely benign | 10 | 116065595 | 116065595 | Human | | name |
| 405287835 | CV3217985 | single nucleotide variant | NM_005264.8(GFRA1):c.1096A>G (p.Thr366Ala) | GFRA1-related disorder [RCV003982109] | benign | 10 | 116089842 | 116089842 | Human | 1 | name , trait , alternate_id |
| 405287835 | CV3217985 | single nucleotide variant | NM_005264.8(GFRA1):c.1096A>G (p.Thr366Ala) | GFRA1-related disorder [RCV003982109] | benign | 10 | 116089842 | 116089843 | Human | 1 | name , trait , alternate_id |
| 405786756 | CV3258329 | single nucleotide variant | NM_005264.8(GFRA1):c.1170T>A (p.His390Gln) | not specified [RCV004387833] | uncertain significance | 10 | 116089768 | 116089768 | Human | | name |
| 597628381 | CV3552487 | single nucleotide variant | NM_005264.8(GFRA1):c.1024A>G (p.Ile342Val) | Renal hypodysplasia/aplasia 4 [RCV004821433] | uncertain significance | 10 | 116089914 | 116089914 | Human | 1 | name |
| 597758886 | CV3684194 | single nucleotide variant | NM_005264.8(GFRA1):c.1078G>A (p.Val360Ile) | not specified [RCV004925385] | uncertain significance | 10 | 116089860 | 116089860 | Human | | name |
| 598220174 | CV3967081 | single nucleotide variant | NM_005264.8(GFRA1):c.1057G>A (p.Val353Met) | not specified [RCV005340409] | uncertain significance | 10 | 116089881 | 116089881 | Human | | name |