| 150480229 | CV1239534 | duplication | NM_004461.3(FARSA):c.926+15dup | not provided [RCV001652697] | benign | 19 | 12925074 | 12925075 | Human | | name |
| 150483787 | CV1245169 | single nucleotide variant | NM_004461.3(FARSA):c.1027-17T>C | not provided [RCV001653346] | benign | 19 | 12924824 | 12924824 | Human | | name |
| 598127523 | CV3888222 | single nucleotide variant | NM_004461.3(FARSA):c.88C>T (p.Leu30=) | not provided [RCV005242908] | uncertain significance | 19 | 12933609 | 12933609 | Human | | name |
| 597695368 | CV3672134 | single nucleotide variant | NM_004461.3(FARSA):c.20C>T (p.Ala7Val) | not specified [RCV004915761] | uncertain significance | 19 | 12933677 | 12933677 | Human | | name |
| 597695441 | CV3672141 | single nucleotide variant | NM_004461.3(FARSA):c.25C>A (p.Leu9Met) | not specified [RCV004915768] | uncertain significance | 19 | 12933672 | 12933672 | Human | | name |
| 156387883 | CV2221642 | single nucleotide variant | NM_004461.3(FARSA):c.92G>A (p.Gly31Asp) | not specified [RCV004096889] | uncertain significance | 19 | 12933605 | 12933605 | Human | | name |
| 155957629 | CV2387528 | single nucleotide variant | NM_004461.3(FARSA):c.67A>G (p.Ser23Gly) | not specified [RCV004240379] | uncertain significance | 19 | 12933630 | 12933630 | Human | | name |
| 329377787 | CV2462747 | single nucleotide variant | NM_004461.3(FARSA):c.65A>C (p.Asp22Ala) | not specified [RCV004278670] | uncertain significance | 19 | 12933632 | 12933632 | Human | | name |
| 401928520 | CV2811625 | single nucleotide variant | NM_004461.3(FARSA):c.780C>T (p.Asp260=) | not provided [RCV003406861] | likely benign | 19 | 12928403 | 12928403 | Human | | name |
| 401906974 | CV2811626 | single nucleotide variant | NM_004461.3(FARSA):c.486G>A (p.Arg162=) | FARSA-related disorder [RCV003938963]|not provided [RCV003421847] | benign|likely benign | 19 | 12930240 | 12930240 | Human | 1 | name , trait , alternate_id |
| 405258397 | CV3203748 | single nucleotide variant | NM_004461.3(FARSA):c.849G>A (p.Ala283=) | FARSA-related disorder [RCV003941929] | benign | 19 | 12925167 | 12925167 | Human | | name , trait , alternate_id |
| 405289207 | CV3204977 | single nucleotide variant | NM_004461.3(FARSA):c.813T>C (p.Arg271=) | FARSA-related disorder [RCV003961608] | likely benign | 19 | 12928370 | 12928370 | Human | | name , trait , alternate_id |
| 405763182 | CV3253117 | single nucleotide variant | NM_004461.3(FARSA):c.82G>T (p.Ala28Ser) | not specified [RCV004383833] | uncertain significance | 19 | 12933615 | 12933615 | Human | | name |
| 405763187 | CV3253118 | single nucleotide variant | NM_004461.3(FARSA):c.83C>T (p.Ala28Val) | not specified [RCV004383834] | uncertain significance | 19 | 12933614 | 12933614 | Human | | name |
| 597695427 | CV3672140 | single nucleotide variant | NM_004461.3(FARSA):c.34C>T (p.Arg12Trp) | not specified [RCV004915767] | uncertain significance | 19 | 12933663 | 12933663 | Human | | name |
| 617153057 | CV4021028 | single nucleotide variant | NM_004461.3(FARSA):c.699G>A (p.Gln233=) | not provided [RCV005428781] | likely benign | 19 | 12928561 | 12928561 | Human | | name |
| 401717908 | CV2704077 | single nucleotide variant | NM_004461.3(FARSA):c.160G>A (p.Glu54Lys) | not specified [RCV004308951] | uncertain significance | 19 | 12930737 | 12930737 | Human | | name |
| 401928518 | CV2811624 | single nucleotide variant | NM_004461.3(FARSA):c.1134G>A (p.Ala378=) | not provided [RCV003406860] | likely benign | 19 | 12924700 | 12924700 | Human | | name |
| 405280832 | CV3190556 | single nucleotide variant | NM_004461.3(FARSA):c.1125C>T (p.Gly375=) | FARSA-related disorder [RCV003906995] | likely benign | 19 | 12924709 | 12924709 | Human | | name , trait , alternate_id |
| 405274980 | CV3199881 | single nucleotide variant | NM_004461.3(FARSA):c.1131G>A (p.Val377=) | FARSA-related disorder [RCV003973915]|not provided [RCV005242540] | benign|likely benign | 19 | 12924703 | 12924703 | Human | 1 | name , trait , alternate_id |
| 405278631 | CV3220364 | single nucleotide variant | NM_004461.3(FARSA):c.1347C>T (p.Pro449=) | FARSA-related disorder [RCV003976586] | benign | 19 | 12924192 | 12924192 | Human | | name , trait , alternate_id |
| 405653747 | CV3227940 | single nucleotide variant | NM_004461.3(FARSA):c.244C>T (p.Arg82Ter) | Rajab interstitial lung disease with brain calcifications 2 [RCV003994682] | uncertain significance | 19 | 12930653 | 12930653 | Human | 1 | name |
| 405763145 | CV3253111 | single nucleotide variant | NM_004461.3(FARSA):c.112G>A (p.Val38Met) | not specified [RCV004383827] | uncertain significance | 19 | 12933585 | 12933585 | Human | | name |
| 405763158 | CV3253113 | single nucleotide variant | NM_004461.3(FARSA):c.170C>T (p.Ser57Phe) | not specified [RCV004383829] | uncertain significance | 19 | 12930727 | 12930727 | Human | | name |
| 405763164 | CV3253114 | single nucleotide variant | NM_004461.3(FARSA):c.214C>T (p.Arg72Trp) | not specified [RCV004383830] | uncertain significance | 19 | 12930683 | 12930683 | Human | | name |
| 597695400 | CV3672137 | single nucleotide variant | NM_004461.3(FARSA):c.154G>A (p.Glu52Lys) | not specified [RCV004915764] | uncertain significance | 19 | 12930743 | 12930743 | Human | | name |
| 152982979 | CV1677826 | single nucleotide variant | NM_004461.3(FARSA):c.812G>A (p.Arg271His) | Rajab interstitial lung disease with brain calcifications 2 [RCV002249979] | pathogenic | 19 | 12928371 | 12928371 | Human | 1 | name |
| 155796490 | CV1860120 | single nucleotide variant | NM_004461.3(FARSA):c.733G>A (p.Glu245Lys) | Rajab interstitial lung disease with brain calcifications 2 [RCV002466388] | uncertain significance | 19 | 12928450 | 12928450 | Human | 1 | name |
| 156253840 | CV2193157 | single nucleotide variant | NM_004461.3(FARSA):c.395T>C (p.Met132Thr) | not specified [RCV004071155] | uncertain significance | 19 | 12930331 | 12930331 | Human | | name |
| 156178809 | CV2331343 | single nucleotide variant | NM_004461.3(FARSA):c.523G>C (p.Val175Leu) | not specified [RCV004183985] | uncertain significance | 19 | 12928828 | 12928828 | Human | | name |
| 156178832 | CV2331344 | single nucleotide variant | NM_004461.3(FARSA):c.653T>G (p.Leu218Arg) | not specified [RCV004183986] | uncertain significance | 19 | 12928607 | 12928607 | Human | | name |
| 156202260 | CV2334663 | single nucleotide variant | NM_004461.3(FARSA):c.848C>T (p.Ala283Val) | not specified [RCV004188646] | uncertain significance | 19 | 12925168 | 12925168 | Human | | name |
| 155921050 | CV2340385 | single nucleotide variant | NM_004461.3(FARSA):c.416G>A (p.Arg139Gln) | not specified [RCV004197116] | uncertain significance | 19 | 12930310 | 12930310 | Human | | name |
| 156269532 | CV2379312 | single nucleotide variant | NM_004461.3(FARSA):c.412C>T (p.Arg138Trp) | not specified [RCV004223778] | uncertain significance | 19 | 12930314 | 12930314 | Human | | name |
| 401759120 | CV2694427 | single nucleotide variant | NM_004461.3(FARSA):c.413G>A (p.Arg138Gln) | not specified [RCV004304601] | uncertain significance | 19 | 12930313 | 12930313 | Human | | name |
| 401862937 | CV2758875 | single nucleotide variant | NM_004461.3(FARSA):c.341G>A (p.Arg114Gln) | not specified [RCV004339963] | uncertain significance | 19 | 12930472 | 12930472 | Human | | name |
| 405261728 | CV3205116 | single nucleotide variant | NM_004461.3(FARSA):c.409C>A (p.Gln137Lys) | FARSA-related disorder [RCV003944586] | benign | 19 | 12930317 | 12930317 | Human | | name , trait , alternate_id |
| 405292906 | CV3210466 | single nucleotide variant | NM_004461.3(FARSA):c.613C>T (p.Arg205Trp) | FARSA-related disorder [RCV003931427]|not provided [RCV005242488] | likely benign | 19 | 12928647 | 12928647 | Human | 1 | name , trait , alternate_id |
| 405691853 | CV3227602 | single nucleotide variant | NM_004461.3(FARSA):c.916G>A (p.Gly306Ser) | Rajab interstitial lung disease with brain calcifications 2 [RCV003991948]|not provided [RCV005412647] | uncertain significance | 19 | 12925100 | 12925100 | Human | 1 | name |
| 405763170 | CV3253115 | single nucleotide variant | NM_004461.3(FARSA):c.430C>T (p.Arg144Trp) | not specified [RCV004383831] | uncertain significance | 19 | 12930296 | 12930296 | Human | | name |
| 405763179 | CV3253116 | single nucleotide variant | NM_004461.3(FARSA):c.740C>T (p.Pro247Leu) | not specified [RCV004383832] | uncertain significance | 19 | 12928443 | 12928443 | Human | | name |
| 597695380 | CV3672135 | single nucleotide variant | NM_004461.3(FARSA):c.947T>C (p.Leu316Pro) | not specified [RCV004915762] | uncertain significance | 19 | 12924983 | 12924983 | Human | | name |
| 597695419 | CV3672139 | single nucleotide variant | NM_004461.3(FARSA):c.839G>A (p.Arg280Gln) | not specified [RCV004915766] | uncertain significance | 19 | 12928344 | 12928344 | Human | | name |
| 598271498 | CV3966119 | single nucleotide variant | NM_004461.3(FARSA):c.868A>G (p.Met290Val) | not specified [RCV005327757] | uncertain significance | 19 | 12925148 | 12925148 | Human | | name |
| 598213162 | CV3966120 | single nucleotide variant | NM_004461.3(FARSA):c.388G>A (p.Asp130Asn) | not specified [RCV005339210] | uncertain significance | 19 | 12930338 | 12930338 | Human | | name |
| 598213167 | CV3966121 | single nucleotide variant | NM_004461.3(FARSA):c.434G>T (p.Gly145Val) | not specified [RCV005339211] | uncertain significance | 19 | 12930292 | 12930292 | Human | | name |
| 598213172 | CV3966122 | single nucleotide variant | NM_004461.3(FARSA):c.892C>T (p.Arg298Trp) | not specified [RCV005339212] | uncertain significance | 19 | 12925124 | 12925124 | Human | | name |
| 598213183 | CV3966124 | single nucleotide variant | NM_004461.3(FARSA):c.706C>G (p.Gln236Glu) | not specified [RCV005339214] | uncertain significance | 19 | 12928554 | 12928554 | Human | | name |
| 39457098 | CV965772 | single nucleotide variant | NM_004461.3(FARSA):c.766T>C (p.Phe256Leu) | Rajab interstitial lung disease with brain calcifications 2 [RCV001255421] | pathogenic | 19 | 12928417 | 12928417 | Human | 1 | name |
| 155796486 | CV1860119 | single nucleotide variant | NM_004461.3(FARSA):c.1211G>A (p.Arg404His) | Rajab interstitial lung disease with brain calcifications 2 [RCV002466387] | uncertain significance | 19 | 12924511 | 12924511 | Human | 1 | name |
| 155981420 | CV2244076 | single nucleotide variant | NM_004461.3(FARSA):c.1325T>C (p.Met442Thr) | not specified [RCV004108552] | uncertain significance | 19 | 12924214 | 12924214 | Human | | name |
| 401735185 | CV2690806 | single nucleotide variant | NM_004461.3(FARSA):c.1034T>C (p.Phe345Ser) | not specified [RCV004298517] | uncertain significance | 19 | 12924800 | 12924800 | Human | | name |
| 405280628 | CV3195604 | single nucleotide variant | NM_004461.3(FARSA):c.1126G>T (p.Val376Leu) | FARSA-related disorder [RCV003906845] | benign | 19 | 12924708 | 12924708 | Human | | name , trait , alternate_id |
| 405274850 | CV3199740 | single nucleotide variant | NM_004461.3(FARSA):c.1022A>G (p.Gln341Arg) | FARSA-related disorder [RCV003973809] | benign | 19 | 12924908 | 12924908 | Human | 1 | name , trait , alternate_id |
| 405274850 | CV3199740 | single nucleotide variant | NM_004461.3(FARSA):c.1022A>G (p.Gln341Arg) | FARSA-related disorder [RCV003973809] | benign | 19 | 12924908 | 12924909 | Human | 1 | name , trait , alternate_id |
| 405283854 | CV3213376 | single nucleotide variant | NM_004461.3(FARSA):c.1412T>C (p.Ile471Thr) | FARSA-related disorder [RCV003921964] | benign | 19 | 12922863 | 12922863 | Human | | name , trait , alternate_id |
| 405653653 | CV3227919 | single nucleotide variant | NM_004461.3(FARSA):c.1040C>T (p.Pro347Leu) | Rajab interstitial lung disease with brain calcifications 2 [RCV003994661] | likely pathogenic | 19 | 12924794 | 12924794 | Human | 1 | name |
| 405763140 | CV3253110 | single nucleotide variant | NM_004461.3(FARSA):c.1018G>C (p.Ala340Pro) | not specified [RCV004383826] | uncertain significance | 19 | 12924912 | 12924912 | Human | | name |
| 405763152 | CV3253112 | single nucleotide variant | NM_004461.3(FARSA):c.1513C>G (p.Gln505Glu) | not specified [RCV004383828] | uncertain significance | 19 | 12922762 | 12922762 | Human | | name |
| 407492639 | CV3432140 | single nucleotide variant | NM_004461.3(FARSA):c.1057A>G (p.Ile353Val) | not specified [RCV004620838] | uncertain significance | 19 | 12924777 | 12924777 | Human | | name |
| 407492643 | CV3432141 | single nucleotide variant | NM_004461.3(FARSA):c.1007T>C (p.Leu336Pro) | not specified [RCV004620839] | uncertain significance | 19 | 12924923 | 12924923 | Human | | name |
| 597695389 | CV3672136 | single nucleotide variant | NM_004461.3(FARSA):c.1004C>T (p.Ala335Val) | not specified [RCV004915763] | uncertain significance | 19 | 12924926 | 12924926 | Human | | name |
| 597695410 | CV3672138 | single nucleotide variant | NM_004461.3(FARSA):c.1403A>G (p.Lys468Arg) | not specified [RCV004915765] | uncertain significance | 19 | 12922872 | 12922872 | Human | | name |
| 598213179 | CV3966123 | single nucleotide variant | NM_004461.3(FARSA):c.1519G>T (p.Ala507Ser) | not specified [RCV005339213] | uncertain significance | 19 | 12922756 | 12922756 | Human | | name |
| 598213188 | CV3966125 | single nucleotide variant | NM_004461.3(FARSA):c.1264T>G (p.Tyr422Asp) | not specified [RCV005339215] | uncertain significance | 19 | 12924458 | 12924458 | Human | | name |
| 28885944 | CV860505 | single nucleotide variant | NM_004461.3(FARSA):c.1012C>T (p.Arg338Cys) | FARSA-related disorder [RCV003945804]|not provided [RCV001091774]|not specified [RCV004031978] | likely benign|uncertain significance | 19 | 12924918 | 12924918 | Human | 1 | name , trait , alternate_id |
| 39457099 | CV965773 | single nucleotide variant | NM_004461.3(FARSA):c.1230C>A (p.Asn410Lys) | Rajab interstitial lung disease with brain calcifications 2 [RCV001255422] | pathogenic | 19 | 12924492 | 12924492 | Human | 1 | name |