| 407425141 | CV3411127 | single nucleotide variant | NM_001040436.3(YARS2):c.-5C>G | not provided [RCV004588817] | uncertain significance | 12 | 32755879 | 32755879 | Human | | name |
| 11615976 | CV324513 | single nucleotide variant | NM_001040436.3(YARS2):c.*24A>G | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000290878]|Myopathy, lactic acidosis, and sideroblastic anemia [RCV000348205] | uncertain significance | 12 | 32747180 | 32747180 | Human | 2 | name |
| 11665601 | CV332087 | single nucleotide variant | NM_001040436.3(YARS2):c.*62G>A | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000387461]|Lethal Encephalopathy [RCV000281421]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001114813]|Myopathy, lactic acidosis, and sideroblastic anemia [RCV000330686] | likely benign|uncertain significance | 12 | 32747142 | 32747142 | Human | 2 | name |
| 28870314 | CV869725 | single nucleotide variant | NM_001040436.2(YARS2):c.-31A>G | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001113500] | uncertain significance | 12 | 32755905 | 32755905 | Human | 1 | name |
| 28870318 | CV869726 | single nucleotide variant | NM_001040436.2(YARS2):c.-72C>G | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001113501] | uncertain significance | 12 | 32755946 | 32755946 | Human | 1 | name |
| 11648055 | CV316904 | single nucleotide variant | NM_001040436.3(YARS2):c.*627A>T | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000279712]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000351018] | uncertain significance | 12 | 32746577 | 32746577 | Human | 2 | name |
| 11665315 | CV316907 | single nucleotide variant | NM_001040436.3(YARS2):c.*230A>G | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000345484]|Lethal Encephalopathy [RCV000264971]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001114808]|Myopathy, lactic acidosis, and sideroblastic anemia [RCV000307018] | likely benign|uncertain significance | 12 | 32746974 | 32746974 | Human | 2 | name |
| 11665336 | CV316909 | single nucleotide variant | NM_001040436.3(YARS2):c.*191T>C | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000265965]|Lethal Encephalopathy [RCV000360920]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001114810]|Myopathy, lactic acidosis, and sideroblastic anemia [RCV000358095]|not provided [RCV001547004] | benign|likely benign | 12 | 32747013 | 32747013 | Human | 2 | name |
| 11665764 | CV324508 | single nucleotide variant | NM_001040436.3(YARS2):c.*406C>T | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000292534]|Lethal Encephalopathy [RCV000309191]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001113411]|Myopathy, lactic acidosis, and sideroblastic anemia [RCV000389223]|not provided [RCV001785556] | benign|likely benign | 12 | 32746798 | 32746798 | Human | 2 | name |
| 11665386 | CV324510 | single nucleotide variant | NM_001040436.3(YARS2):c.*162A>G | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000299975]|Lethal Encephalopathy [RCV000268326]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001114811]|Myopathy, lactic acidosis, and sideroblastic anemia [RCV000357124]|not provided [RCV001568293] | benign|likely benign | 12 | 32747042 | 32747042 | Human | 2 | name |
| 11666484 | CV330689 | single nucleotide variant | NM_001040436.3(YARS2):c.*360A>G | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000392181]|Lethal Encephalopathy [RCV000366716]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001113413]|Myopathy, lactic acidosis, and sideroblastic anemia [RCV000349712] | likely benign|uncertain significance | 12 | 32746844 | 32746844 | Human | 2 | name |
| 11665969 | CV330692 | single nucleotide variant | NM_001040436.3(YARS2):c.*209G>C | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000392192]|Lethal Encephalopathy [RCV000322564]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001114809]|Myopathy, lactic acidosis, and sideroblastic anemia [RCV000305932]|not provided [RCV001653514] | benign|likely benign | 12 | 32746995 | 32746995 | Human | 2 | name |
| 11666134 | CV332072 | single nucleotide variant | NM_001040436.3(YARS2):c.*643G>A | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000371457]|Lethal Encephalopathy [RCV000406313]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001113407]|Myopathy, lactic acidosis, and sideroblastic anemia [RCV000319068]|not provided [RCV004703635] | benign|likely benign | 12 | 32746561 | 32746561 | Human | 2 | name |
| 11665225 | CV332081 | single nucleotide variant | NM_001040436.3(YARS2):c.*142T>C | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000317776]|Lethal Encephalopathy [RCV000316547]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001114812]|Myopathy, lactic acidosis, and sideroblastic anemia [RCV000260179] | likely benign|uncertain significance | 12 | 32747062 | 32747062 | Human | 2 | name |
| 14730877 | CV665844 | single nucleotide variant | NM_001040436.2(YARS2):c.-153G>C | not provided [RCV000835874] | benign | 12 | 32756027 | 32756027 | Human | | name |
| 28870104 | CV869721 | single nucleotide variant | NM_001040436.3(YARS2):c.*595G>A | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001113408] | uncertain significance | 12 | 32746609 | 32746609 | Human | 1 | name |
| 28870108 | CV869722 | single nucleotide variant | NM_001040436.3(YARS2):c.*478G>A | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001113409] | uncertain significance | 12 | 32746726 | 32746726 | Human | 1 | name |
| 28870110 | CV869723 | single nucleotide variant | NM_001040436.3(YARS2):c.*469C>T | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001113410] | likely benign | 12 | 32746735 | 32746735 | Human | 1 | name |
| 28870114 | CV869724 | single nucleotide variant | NM_001040436.3(YARS2):c.*377G>A | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001113412] | uncertain significance | 12 | 32746827 | 32746827 | Human | 1 | name |
| 156020579 | CV1911352 | single nucleotide variant | NM_001040436.3(YARS2):c.779+9C>T | not provided [RCV002636689] | likely benign | 12 | 32755087 | 32755087 | Human | | name |
| 405112459 | CV2938892 | single nucleotide variant | NM_001040436.3(YARS2):c.780-5C>T | not provided [RCV003666439] | likely benign | 12 | 32754090 | 32754090 | Human | | name |
| 405164072 | CV3125249 | single nucleotide variant | NM_001040436.3(YARS2):c.947+9T>C | not provided [RCV003818521] | likely benign | 12 | 32753909 | 32753909 | Human | | name |
| 405286841 | CV3192985 | deletion | NM_001040436.3(YARS2):c.*5_*6del | YARS2-related disorder [RCV003981667] | likely benign | 12 | 32747198 | 32747199 | Human | | name , trait , alternate_id |
| 596948271 | CV3549353 | single nucleotide variant | NM_001040436.3(YARS2):c.948-2A>G | not provided [RCV004812173] | uncertain significance | 12 | 32750876 | 32750876 | Human | | name |
| 15184438 | CV775895 | single nucleotide variant | NM_001040436.3(YARS2):c.780-4G>A | not provided [RCV000930808] | likely benign | 12 | 32754089 | 32754089 | Human | | name |
| 155796918 | CV1859175 | single nucleotide variant | NM_001040436.3(YARS2):c.780-11T>C | not provided [RCV002464803] | conflicting interpretations of pathogenicity|uncertain significance | 12 | 32754096 | 32754096 | Human | | name |
| 156442161 | CV1938071 | single nucleotide variant | NM_001040436.3(YARS2):c.1103+3A>G | not provided [RCV003112500] | uncertain significance | 12 | 32750716 | 32750716 | Human | | name |
| 156180570 | CV1953438 | single nucleotide variant | NM_001040436.3(YARS2):c.947+11A>G | not provided [RCV002574100] | likely benign | 12 | 32753907 | 32753907 | Human | | name |
| 156282190 | CV1967994 | single nucleotide variant | NM_001040436.3(YARS2):c.1104-6T>C | not provided [RCV002598433] | likely benign | 12 | 32750113 | 32750113 | Human | | name |
| 156249978 | CV1969707 | single nucleotide variant | NM_001040436.3(YARS2):c.948-19T>C | not provided [RCV002597438] | likely benign | 12 | 32750893 | 32750893 | Human | | name |
| 155964223 | CV2080643 | duplication | NM_001040436.3(YARS2):c.948-17dup | not provided [RCV002863004] | likely benign | 12 | 32750890 | 32750891 | Human | | name |
| 10410116 | CV211631 | duplication | NM_001040436.3(YARS2):c.1275-2dup | not provided [RCV000224099] | conflicting interpretations of pathogenicity|uncertain significance | 12 | 32747364 | 32747365 | Human | | name |
| 405047517 | CV3014287 | single nucleotide variant | NM_001040436.3(YARS2):c.780-18A>G | not provided [RCV003696723] | likely benign | 12 | 32754103 | 32754103 | Human | | name |
| 405224377 | CV3168853 | single nucleotide variant | NM_001040436.3(YARS2):c.947+10G>A | not provided [RCV003864068] | likely benign | 12 | 32753908 | 32753908 | Human | | name |
| 13525690 | CV504135 | single nucleotide variant | NM_001040436.3(YARS2):c.948-20C>T | not provided [RCV002528615]|not specified [RCV000603365] | likely benign | 12 | 32750894 | 32750894 | Human | | name |
| 14726210 | CV666506 | single nucleotide variant | NM_001040436.3(YARS2):c.779+51C>G | not provided [RCV000833770] | likely benign | 12 | 32755045 | 32755045 | Human | | name |
| 150418681 | CV1194663 | single nucleotide variant | NM_001040436.3(YARS2):c.947+162A>G | not provided [RCV001569329] | likely benign | 12 | 32753756 | 32753756 | Human | | name |
| 150430539 | CV1230929 | single nucleotide variant | NM_001040436.3(YARS2):c.948-281G>A | not provided [RCV001641478] | benign | 12 | 32751155 | 32751155 | Human | | name |
| 150449778 | CV1275716 | duplication | NM_001040436.3(YARS2):c.948-211dup | not provided [RCV001708171] | benign | 12 | 32751071 | 32751072 | Human | | name |
| 8691672 | CV141639 | single nucleotide variant | NM_001040436.3(YARS2):c.1103+18T>C | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV002243791]|not provided [RCV002055639]|not specified [RCV000126350] | benign | 12 | 32750701 | 32750701 | Human | 1 | name |
| 156417104 | CV1970208 | single nucleotide variant | NM_001040436.3(YARS2):c.1275-19A>T | not provided [RCV002590030] | likely benign | 12 | 32747382 | 32747382 | Human | | name |
| 156405551 | CV1994467 | single nucleotide variant | NM_001040436.3(YARS2):c.1104-19C>G | not provided [RCV002658335] | likely benign | 12 | 32750126 | 32750126 | Human | | name |
| 156386281 | CV1999238 | single nucleotide variant | NM_001040436.3(YARS2):c.1103+15T>G | not provided [RCV002654012] | likely benign | 12 | 32750704 | 32750704 | Human | | name |
| 156034520 | CV2059329 | single nucleotide variant | NM_001040436.3(YARS2):c.1104-12T>A | not provided [RCV002796195] | uncertain significance | 12 | 32750119 | 32750119 | Human | | name |
| 405202643 | CV2989120 | single nucleotide variant | NM_001040436.3(YARS2):c.1274+13A>T | not provided [RCV003678294] | likely benign | 12 | 32749924 | 32749924 | Human | | name |
| 11634881 | CV332105 | duplication | NM_001040436.3(YARS2):c.1104-16dup | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000341049]|Myopathy, lactic acidosis, and sideroblastic anemia [RCV000283693]|not provided [RCV001642961] | benign|uncertain significance | 12 | 32750119 | 32750120 | Human | 1 | name |
| 597875610 | CV3747787 | single nucleotide variant | NM_001040436.3(YARS2):c.1275-15G>A | not provided [RCV005069278] | likely benign | 12 | 32747378 | 32747378 | Human | | name |
| 598203082 | CV3892929 | deletion | NM_001040436.3(YARS2):c.948_957del | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV005255255] | likely pathogenic | 12 | 32750865 | 32750874 | Human | 1 | name |
| 14741484 | CV665839 | single nucleotide variant | NM_001040436.3(YARS2):c.780-153T>C | not provided [RCV000840804] | likely benign | 12 | 32754238 | 32754238 | Human | | name |
| 14728839 | CV665841 | single nucleotide variant | NM_001040436.3(YARS2):c.779+150C>T | not provided [RCV000834953] | likely benign | 12 | 32754946 | 32754946 | Human | | name |
| 14741488 | CV666490 | single nucleotide variant | NM_001040436.3(YARS2):c.948-213T>C | not provided [RCV000840806] | likely benign | 12 | 32751087 | 32751087 | Human | | name |
| 14741486 | CV666502 | single nucleotide variant | NM_001040436.3(YARS2):c.948-261A>G | not provided [RCV000840805] | likely benign | 12 | 32751135 | 32751135 | Human | | name |
| 150414635 | CV1177602 | single nucleotide variant | NM_001040436.3(YARS2):c.1104-290A>G | not provided [RCV001548221] | likely benign | 12 | 32750397 | 32750397 | Human | | name |
| 150460905 | CV1275887 | single nucleotide variant | NM_001040436.3(YARS2):c.1104-211G>A | not provided [RCV001709825] | benign | 12 | 32750318 | 32750318 | Human | | name |
| 14741159 | CV665824 | single nucleotide variant | NM_001040436.3(YARS2):c.1275-323A>G | not provided [RCV000840652] | benign | 12 | 32747686 | 32747686 | Human | | name |
| 14741557 | CV665826 | single nucleotide variant | NM_001040436.3(YARS2):c.1274+159G>A | not provided [RCV000840838] | benign | 12 | 32749778 | 32749778 | Human | | name |
| 14730880 | CV665828 | single nucleotide variant | NM_001040436.3(YARS2):c.1104-107A>C | not provided [RCV000835875] | benign | 12 | 32750214 | 32750214 | Human | 3 | name |
| 14730880 | CV665828 | single nucleotide variant | NM_001040436.3(YARS2):c.1104-107A>C | not provided [RCV000835875] | benign | 12 | 32750214 | 32750215 | Human | 3 | name |
| 14723475 | CV666488 | single nucleotide variant | NM_001040436.3(YARS2):c.1104-197G>A | not provided [RCV000832549] | likely benign | 12 | 32750304 | 32750304 | Human | | name |
| 11665529 | CV316910 | deletion | NM_001040436.3(YARS2):c.*126_*127del | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000388515]|Lethal Encephalopathy [RCV000373541]|Myopathy, lactic acidosis, and sideroblastic anemia [RCV000277846] | likely benign|uncertain significance | 12 | 32747077 | 32747078 | Human | 1 | name |
| 152045781 | CV1670334 | single nucleotide variant | NM_001040436.3(YARS2):c.7G>A (p.Ala3Thr) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV002225186] | uncertain significance | 12 | 32755868 | 32755868 | Human | 1 | name |
| 156177073 | CV1891820 | single nucleotide variant | NM_001040436.3(YARS2):c.5C>T (p.Ala2Val) | not provided [RCV003083430] | uncertain significance | 12 | 32755870 | 32755870 | Human | | name |
| 156405414 | CV1994386 | single nucleotide variant | NM_001040436.3(YARS2):c.54A>G (p.Leu18=) | not provided [RCV002658300] | likely benign | 12 | 32755821 | 32755821 | Human | | name |
| 156022207 | CV2081601 | single nucleotide variant | NM_001040436.3(YARS2):c.54A>C (p.Leu18=) | not provided [RCV002866664] | likely benign | 12 | 32755821 | 32755821 | Human | | name |
| 402509517 | CV2938561 | single nucleotide variant | NM_001040436.3(YARS2):c.90G>A (p.Lys30=) | not provided [RCV003662432] | likely benign | 12 | 32755785 | 32755785 | Human | | name |
| 405187238 | CV2977601 | single nucleotide variant | NM_001040436.3(YARS2):c.75C>T (p.Pro25=) | not provided [RCV003706131] | likely benign | 12 | 32755800 | 32755800 | Human | | name |
| 11648562 | CV330707 | single nucleotide variant | NM_001040436.3(YARS2):c.30C>T (p.Ser10=) | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000316387]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000282346]|not provided [RCV005055860] | likely benign|uncertain significance | 12 | 32755845 | 32755845 | Human | 2 | name |
| 8691673 | CV141640 | single nucleotide variant | NM_001040436.3(YARS2):c.291C>T (p.Gly97=) | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000362476]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000310151]|not provided [RCV000676971]|not specified [RCV000126351] | benign|likely benign | 12 | 32755584 | 32755584 | Human | 2 | name |
| 156380405 | CV1873533 | single nucleotide variant | NM_001040436.3(YARS2):c.252A>C (p.Ala84=) | not provided [RCV003067122] | likely benign | 12 | 32755623 | 32755623 | Human | | name |
| 156449439 | CV1941375 | single nucleotide variant | NM_001040436.3(YARS2):c.283C>T (p.Leu95=) | not provided [RCV003121561] | likely benign | 12 | 32755592 | 32755592 | Human | | name |
| 156449088 | CV1944343 | single nucleotide variant | NM_001040436.3(YARS2):c.132T>C (p.Ala44=) | not provided [RCV003121200] | likely benign | 12 | 32755743 | 32755743 | Human | | name |
| 156387318 | CV1986739 | single nucleotide variant | NM_001040436.3(YARS2):c.13A>C (p.Ile5Leu) | Inborn genetic diseases [RCV002634700]|not provided [RCV002609259] | uncertain significance | 12 | 32755862 | 32755862 | Human | 1 | name |
| 156273048 | CV2018513 | single nucleotide variant | NM_001040436.3(YARS2):c.111G>A (p.Gly37=) | not provided [RCV002715047] | likely benign | 12 | 32755764 | 32755764 | Human | | name |
| 156264148 | CV2170056 | single nucleotide variant | NM_001040436.3(YARS2):c.102C>G (p.Gly34=) | not provided [RCV003026757] | likely benign | 12 | 32755773 | 32755773 | Human | | name |
| 156041827 | CV2187988 | single nucleotide variant | NM_001040436.3(YARS2):c.133C>A (p.Arg45=) | not provided [RCV003036598] | likely benign | 12 | 32755742 | 32755742 | Human | | name |
| 405018436 | CV3135342 | single nucleotide variant | NM_001040436.3(YARS2):c.274C>T (p.Leu92=) | not provided [RCV003829613] | likely benign | 12 | 32755601 | 32755601 | Human | | name |
| 405189437 | CV3149562 | single nucleotide variant | NM_001040436.3(YARS2):c.270T>C (p.Gly90=) | not provided [RCV003843288] | likely benign | 12 | 32755605 | 32755605 | Human | | name |
| 11613699 | CV324522 | single nucleotide variant | NM_001040436.3(YARS2):c.234T>C (p.Cys78=) | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000323328]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000270595]|not provided [RCV002056293] | likely benign|uncertain significance | 12 | 32755641 | 32755641 | Human | 2 | name |
| 11613025 | CV332112 | single nucleotide variant | NM_001040436.3(YARS2):c.180G>A (p.Glu60=) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000264539]|Myopathy, lactic acidosis, and sideroblastic anemia [RCV000361764]|not provided [RCV002520805] | likely benign|uncertain significance | 12 | 32755695 | 32755695 | Human | 2 | name |
| 597875481 | CV3813123 | single nucleotide variant | NM_001040436.3(YARS2):c.276A>C (p.Leu92=) | not provided [RCV005149059] | likely benign | 12 | 32755599 | 32755599 | Human | | name |
| 15135231 | CV738618 | single nucleotide variant | NM_001040436.3(YARS2):c.225C>T (p.Thr75=) | YARS2-related disorder [RCV003920865]|not provided [RCV000898420] | likely benign | 12 | 32755650 | 32755650 | Human | 1 | name , trait , alternate_id |
| 150428943 | CV1187896 | single nucleotide variant | NM_001040436.3(YARS2):c.922A>C (p.Arg308=) | not provided [RCV001562930] | likely benign | 12 | 32753943 | 32753943 | Human | | name |
| 151885425 | CV1350957 | single nucleotide variant | NM_001040436.3(YARS2):c.498C>T (p.Gly166=) | not provided [RCV001887353] | likely benign|uncertain significance | 12 | 32755377 | 32755377 | Human | | name |
| 151794813 | CV1395102 | single nucleotide variant | NM_001040436.3(YARS2):c.91G>A (p.Ala31Thr) | Inborn genetic diseases [RCV005308636]|not provided [RCV001973380] | uncertain significance | 12 | 32755784 | 32755784 | Human | 1 | name |
| 8691670 | CV141637 | single nucleotide variant | NM_001040436.3(YARS2):c.456G>A (p.Ala152=) | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000311394]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000408199]|YARS2-related disorder [RCV003935195]|not provided [RCV000905892]|not specified [RCV000126348] | benign|uncertain significance | 12 | 32755419 | 32755419 | Human | 2 | name , trait , alternate_id |
| 8691674 | CV141641 | single nucleotide variant | NM_001040436.3(YARS2):c.342C>T (p.Gly114=) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV002243792]|YARS2-related disorder [RCV003935196]|not provided [RCV000883359]|not specified [RCV000126352] | benign | 12 | 32755533 | 32755533 | Human | 1 | name , trait , alternate_id |
| 152076190 | CV1604487 | single nucleotide variant | NM_001040436.3(YARS2):c.741A>G (p.Gln247=) | not provided [RCV002092252] | likely benign | 12 | 32755134 | 32755134 | Human | | name |
| 156288858 | CV1890519 | single nucleotide variant | NM_001040436.3(YARS2):c.98C>A (p.Ser33Ter) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV003404069]|not provided [RCV003087396] | pathogenic|likely pathogenic | 12 | 32755777 | 32755777 | Human | 1 | name |
| 156130167 | CV1924697 | single nucleotide variant | NM_001040436.3(YARS2):c.34G>C (p.Gly12Arg) | Inborn genetic diseases [RCV004686765]|not provided [RCV002640679] | uncertain significance | 12 | 32755841 | 32755841 | Human | 1 | name |
| 156373892 | CV1932956 | single nucleotide variant | NM_001040436.3(YARS2):c.582C>T (p.Arg194=) | YARS2-related disorder [RCV003898890]|not provided [RCV002633655] | likely benign|conflicting interpretations of pathogenicity | 12 | 32755293 | 32755293 | Human | 1 | name , trait , alternate_id |
| 156446860 | CV1948224 | single nucleotide variant | NM_001040436.3(YARS2):c.987T>C (p.Ile329=) | not provided [RCV003118379] | likely benign | 12 | 32750835 | 32750835 | Human | | name |
| 156116480 | CV1993975 | single nucleotide variant | NM_001040436.3(YARS2):c.897A>C (p.Pro299=) | not provided [RCV002662685] | likely benign | 12 | 32753968 | 32753968 | Human | | name |
| 155953286 | CV2014139 | single nucleotide variant | NM_001040436.3(YARS2):c.675G>A (p.Gln225=) | not provided [RCV002686134] | likely benign | 12 | 32755200 | 32755200 | Human | | name |
| 156119393 | CV2015858 | single nucleotide variant | NM_001040436.3(YARS2):c.312G>A (p.Ala104=) | not provided [RCV002695977] | likely benign | 12 | 32755563 | 32755563 | Human | | name |
| 156121454 | CV2015961 | single nucleotide variant | NM_001040436.3(YARS2):c.37C>T (p.Arg13Trp) | not provided [RCV002696052] | uncertain significance | 12 | 32755838 | 32755838 | Human | | name |
| 156069975 | CV2018508 | single nucleotide variant | NM_001040436.3(YARS2):c.393G>C (p.Ala131=) | not provided [RCV002705652] | likely benign | 12 | 32755482 | 32755482 | Human | | name |
| 156033327 | CV2029882 | single nucleotide variant | NM_001040436.3(YARS2):c.804A>C (p.Gly268=) | not provided [RCV002735894] | likely benign | 12 | 32754061 | 32754061 | Human | | name |
| 156116086 | CV2035549 | single nucleotide variant | NM_001040436.3(YARS2):c.29C>T (p.Ser10Phe) | not provided [RCV002785598] | uncertain significance | 12 | 32755846 | 32755846 | Human | | name |
| 156376376 | CV2059650 | single nucleotide variant | NM_001040436.3(YARS2):c.702G>A (p.Gln234=) | not provided [RCV002814727] | likely benign | 12 | 32755173 | 32755173 | Human | | name |
| 156049135 | CV2091349 | single nucleotide variant | NM_001040436.3(YARS2):c.537G>A (p.Lys179=) | not provided [RCV002886099] | likely benign | 12 | 32755338 | 32755338 | Human | | name |
| 156364709 | CV2105776 | single nucleotide variant | NM_001040436.3(YARS2):c.633C>T (p.Pro211=) | not provided [RCV002941869] | likely benign | 12 | 32755242 | 32755242 | Human | | name |
| 10410222 | CV211632 | single nucleotide variant | NM_001040436.3(YARS2):c.948G>A (p.Arg316=) | not provided [RCV000197736] | uncertain significance | 12 | 32750874 | 32750874 | Human | | name |
| 156131005 | CV2125141 | single nucleotide variant | NM_001040436.3(YARS2):c.525C>T (p.Ala175=) | not provided [RCV002953878] | likely benign | 12 | 32755350 | 32755350 | Human | | name |
| 155904720 | CV2134444 | single nucleotide variant | NM_001040436.3(YARS2):c.92C>T (p.Ala31Val) | Inborn genetic diseases [RCV004963320]|not provided [RCV002967639] | uncertain significance | 12 | 32755783 | 32755783 | Human | 1 | name |
| 156030959 | CV2142021 | single nucleotide variant | NM_001040436.3(YARS2):c.62C>T (p.Ser21Leu) | Inborn genetic diseases [RCV004963328]|not provided [RCV002976602] | uncertain significance | 12 | 32755813 | 32755813 | Human | 1 | name |
| 156354791 | CV2154171 | single nucleotide variant | NM_001040436.3(YARS2):c.912A>G (p.Gln304=) | not provided [RCV003031149] | likely benign | 12 | 32753953 | 32753953 | Human | | name |
| 156360850 | CV2158789 | single nucleotide variant | NM_001040436.3(YARS2):c.855T>A (p.Ser285=) | not provided [RCV003031554] | likely benign | 12 | 32754010 | 32754010 | Human | | name |
| 156263193 | CV2189021 | single nucleotide variant | NM_001040436.3(YARS2):c.660T>C (p.Phe220=) | not provided [RCV003044190] | likely benign | 12 | 32755215 | 32755215 | Human | | name |
| 401943361 | CV2840015 | single nucleotide variant | NM_001040436.3(YARS2):c.546G>A (p.Leu182=) | YARS2-related disorder [RCV004757590]|not provided [RCV003456802] | likely benign | 12 | 32755329 | 32755329 | Human | 1 | name , trait , alternate_id |
| 402511206 | CV2858854 | single nucleotide variant | NM_001040436.3(YARS2):c.366G>A (p.Pro122=) | YARS2-related disorder [RCV003901104]|not provided [RCV003547038] | likely benign | 12 | 32755509 | 32755509 | Human | 1 | name , trait , alternate_id |
| 405015605 | CV2859532 | single nucleotide variant | NM_001040436.3(YARS2):c.501C>T (p.Ser167=) | not provided [RCV003577122] | likely benign | 12 | 32755374 | 32755374 | Human | | name |
| 405130863 | CV2953599 | single nucleotide variant | NM_001040436.3(YARS2):c.759C>T (p.Ser253=) | not provided [RCV003672314] | likely benign | 12 | 32755116 | 32755116 | Human | | name |
| 405186553 | CV2964055 | single nucleotide variant | NM_001040436.3(YARS2):c.711A>T (p.Gly237=) | not provided [RCV003676804] | likely benign | 12 | 32755164 | 32755164 | Human | | name |
| 405244465 | CV2971909 | single nucleotide variant | NM_001040436.3(YARS2):c.378C>G (p.Thr126=) | not provided [RCV003684770] | likely benign | 12 | 32755497 | 32755497 | Human | | name |
| 405212770 | CV2984037 | single nucleotide variant | NM_001040436.3(YARS2):c.882A>G (p.Arg294=) | not provided [RCV003708858] | likely benign | 12 | 32753983 | 32753983 | Human | | name |
| 404977537 | CV3012068 | single nucleotide variant | NM_001040436.3(YARS2):c.576C>T (p.His192=) | not provided [RCV003690644] | likely benign | 12 | 32755299 | 32755299 | Human | | name |
| 405089579 | CV3025064 | single nucleotide variant | NM_001040436.3(YARS2):c.876A>G (p.Leu292=) | YARS2-related disorder [RCV003966578]|not provided [RCV003699568] | likely benign | 12 | 32753989 | 32753989 | Human | 1 | name , trait , alternate_id |
| 405224596 | CV3061497 | single nucleotide variant | NM_001040436.3(YARS2):c.798A>G (p.Val266=) | not provided [RCV003733746] | likely benign | 12 | 32754067 | 32754067 | Human | | name |
| 405212133 | CV3063163 | single nucleotide variant | NM_001040436.3(YARS2):c.369C>T (p.Ser123=) | not provided [RCV003732159] | likely benign | 12 | 32755506 | 32755506 | Human | | name |
| 404998272 | CV3123945 | single nucleotide variant | NM_001040436.3(YARS2):c.711A>G (p.Gly237=) | not provided [RCV003827852] | likely benign | 12 | 32755164 | 32755164 | Human | | name |
| 405165799 | CV3125626 | single nucleotide variant | NM_001040436.3(YARS2):c.729C>T (p.Gly243=) | not provided [RCV003818709] | likely benign | 12 | 32755146 | 32755146 | Human | | name |
| 405031540 | CV3129987 | single nucleotide variant | NM_001040436.3(YARS2):c.945A>G (p.Glu315=) | YARS2-related disorder [RCV003949047]|not provided [RCV003830586] | likely benign | 12 | 32753920 | 32753920 | Human | 1 | name , trait , alternate_id |
| 405136600 | CV3164365 | duplication | NM_001040436.3(YARS2):c.113dup (p.Leu38fs) | not provided [RCV003855160] | pathogenic | 12 | 32755761 | 32755762 | Human | | name |
| 405241864 | CV3173199 | single nucleotide variant | NM_001040436.3(YARS2):c.438A>G (p.Leu146=) | not provided [RCV003867484] | likely benign | 12 | 32755437 | 32755437 | Human | | name |
| 11613953 | CV324518 | single nucleotide variant | NM_001040436.3(YARS2):c.870T>C (p.Val290=) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000272970]|Myopathy, lactic acidosis, and sideroblastic anemia [RCV000365186]|not provided [RCV000676969]|not specified [RCV000435120] | benign|likely benign|uncertain significance | 12 | 32753995 | 32753995 | Human | 2 | name |
| 11618434 | CV330694 | single nucleotide variant | NM_001040436.3(YARS2):c.930G>A (p.Pro310=) | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000371082]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000314050]|YARS2-related disorder [RCV003920278]|not provided [RCV000676968]|not specified [RCV000441038] | benign|likely benign|uncertain significance | 12 | 32753935 | 32753935 | Human | 2 | name , trait , alternate_id |
| 11619512 | CV330699 | single nucleotide variant | NM_001040436.3(YARS2):c.819A>G (p.Leu273=) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000326452]|Myopathy, lactic acidosis, and sideroblastic anemia [RCV000378773]|not provided [RCV002056292]|not specified [RCV000606596] | likely benign|uncertain significance | 12 | 32754046 | 32754046 | Human | 2 | name |
| 11614792 | CV332107 | single nucleotide variant | NM_001040436.3(YARS2):c.477C>T (p.Phe159=) | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000351075]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000279759]|not provided [RCV002520804]|not specified [RCV000442193] | likely benign|uncertain significance | 12 | 32755398 | 32755398 | Human | 2 | name |
| 12836932 | CV372244 | single nucleotide variant | NM_001040436.3(YARS2):c.930G>C (p.Pro310=) | YARS2-related disorder [RCV003942337]|not provided [RCV000894700] | likely benign | 12 | 32753935 | 32753935 | Human | 1 | name , trait , alternate_id |
| 597871724 | CV3805185 | single nucleotide variant | NM_001040436.3(YARS2):c.453G>A (p.Leu151=) | not provided [RCV005148463] | likely benign | 12 | 32755422 | 32755422 | Human | | name |
| 597893006 | CV3809863 | single nucleotide variant | NM_001040436.3(YARS2):c.543C>T (p.His181=) | not provided [RCV005151584] | likely benign | 12 | 32755332 | 32755332 | Human | | name |
| 597948217 | CV3818261 | single nucleotide variant | NM_001040436.3(YARS2):c.321C>T (p.Asn107=) | not provided [RCV005160522] | likely benign | 12 | 32755554 | 32755554 | Human | | name |
| 597965618 | CV3826809 | single nucleotide variant | NM_001040436.3(YARS2):c.828T>C (p.Ser276=) | not provided [RCV005164838] | likely benign | 12 | 32754037 | 32754037 | Human | | name |
| 597963529 | CV3837678 | single nucleotide variant | NM_001040436.3(YARS2):c.351G>A (p.Ala117=) | not provided [RCV005193660] | likely benign | 12 | 32755524 | 32755524 | Human | | name |
| 597942920 | CV3847365 | single nucleotide variant | NM_001040436.3(YARS2):c.318C>T (p.His106=) | not provided [RCV005188284] | likely benign | 12 | 32755557 | 32755557 | Human | | name |
| 597912720 | CV3850686 | single nucleotide variant | NM_001040436.3(YARS2):c.594G>A (p.Leu198=) | not provided [RCV005203834] | likely benign | 12 | 32755281 | 32755281 | Human | | name |
| 13540417 | CV504133 | single nucleotide variant | NM_001040436.3(YARS2):c.960G>A (p.Leu320=) | not provided [RCV000927785]|not specified [RCV000614667] | likely benign | 12 | 32750862 | 32750862 | Human | | name |
| 13789983 | CV549989 | duplication | NM_001040436.3(YARS2):c.201dup (p.Gly68fs) | not provided [RCV000676972] | pathogenic|likely pathogenic | 12 | 32755673 | 32755674 | Human | | name |
| 15139449 | CV738617 | single nucleotide variant | NM_001040436.3(YARS2):c.810C>T (p.Thr270=) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001109173]|not provided [RCV000899149] | likely benign|uncertain significance | 12 | 32754055 | 32754055 | Human | 1 | name |
| 15102600 | CV753336 | single nucleotide variant | NM_001040436.3(YARS2):c.522G>C (p.Ser174=) | not provided [RCV000914994] | likely benign | 12 | 32755353 | 32755353 | Human | | name |
| 15121123 | CV753337 | single nucleotide variant | NM_001040436.3(YARS2):c.417C>T (p.Ala139=) | not provided [RCV000918430] | likely benign | 12 | 32755458 | 32755458 | Human | | name |
| 8574767 | CV108175 | single nucleotide variant | NM_001040436.3(YARS2):c.137G>A (p.Gly46Asp) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000088671]|not provided [RCV000255137] | pathogenic | 12 | 32755738 | 32755738 | Human | 1 | name |
| 8691671 | CV141638 | single nucleotide variant | NM_001040436.3(YARS2):c.1026G>A (p.Arg342=) | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000393673]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000301319]|YARS2-related disorder [RCV003915259]|not provided [RCV000957055]|not specified [RCV000126349] | benign|likely benign | 12 | 32750796 | 32750796 | Human | 2 | name , trait , alternate_id |
| 8595286 | CV16095 | single nucleotide variant | NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000001111]|not provided [RCV000292649] | pathogenic|likely pathogenic | 12 | 32755719 | 32755719 | Human | 1 | name |
| 155641929 | CV1706095 | single nucleotide variant | NM_001040436.3(YARS2):c.101G>A (p.Gly34Asp) | Inborn genetic diseases [RCV004047587]|not provided [RCV002286957] | uncertain significance | 12 | 32755774 | 32755774 | Human | 1 | name |
| 156378522 | CV1953716 | single nucleotide variant | NM_001040436.3(YARS2):c.224C>A (p.Thr75Asn) | not provided [RCV002582998] | uncertain significance | 12 | 32755651 | 32755651 | Human | | name |
| 156079449 | CV1975737 | single nucleotide variant | NM_001040436.3(YARS2):c.1407C>T (p.Phe469=) | not provided [RCV002621494] | likely benign | 12 | 32747231 | 32747231 | Human | | name |
| 155909142 | CV1979999 | single nucleotide variant | NM_001040436.3(YARS2):c.118G>C (p.Ala40Pro) | not provided [RCV002613860] | uncertain significance | 12 | 32755757 | 32755757 | Human | | name |
| 156232142 | CV1991917 | single nucleotide variant | NM_001040436.3(YARS2):c.226A>G (p.Ile76Val) | not provided [RCV002626832] | uncertain significance | 12 | 32755649 | 32755649 | Human | | name |
| 155902244 | CV2010246 | single nucleotide variant | NM_001040436.3(YARS2):c.160G>C (p.Glu54Gln) | not provided [RCV002726253] | uncertain significance | 12 | 32755715 | 32755715 | Human | | name |
| 156317676 | CV2025090 | single nucleotide variant | NM_001040436.3(YARS2):c.1113A>G (p.Gln371=) | not provided [RCV002716896] | likely benign | 12 | 32750098 | 32750098 | Human | | name |
| 156210243 | CV2032249 | single nucleotide variant | NM_001040436.3(YARS2):c.1020A>G (p.Pro340=) | not provided [RCV002711736] | likely benign | 12 | 32750802 | 32750802 | Human | | name |
| 10406318 | CV205771 | duplication | NM_001040436.3(YARS2):c.359dup (p.Asp121fs) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000191147] | pathogenic | 12 | 32755515 | 32755516 | Human | 1 | name |
| 156043495 | CV2071769 | duplication | NM_001040436.3(YARS2):c.572dup (p.His192fs) | not provided [RCV002846189] | pathogenic | 12 | 32755302 | 32755303 | Human | | name |
| 156020604 | CV2081438 | single nucleotide variant | NM_001040436.3(YARS2):c.1224T>C (p.Ser408=) | not provided [RCV002866586] | likely benign | 12 | 32749987 | 32749987 | Human | | name |
| 156208892 | CV2103200 | single nucleotide variant | NM_001040436.3(YARS2):c.143T>G (p.Phe48Cys) | not provided [RCV002918084] | uncertain significance | 12 | 32755732 | 32755732 | Human | | name |
| 10411267 | CV211637 | single nucleotide variant | NM_001040436.3(YARS2):c.236G>T (p.Gly79Val) | not provided [RCV000199921] | likely pathogenic | 12 | 32755639 | 32755639 | Human | | name |
| 10409252 | CV211638 | single nucleotide variant | NM_001040436.3(YARS2):c.202G>A (p.Gly68Ser) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001113499]|not provided [RCV002517283]|not specified [RCV000195740] | likely benign|uncertain significance | 12 | 32755673 | 32755673 | Human | 1 | name |
| 10410824 | CV211639 | single nucleotide variant | NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp) | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000322253]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000374549]|YARS2-related disorder [RCV003937747]|not provided [RCV000515039]|not specified [RCV000198966] | benign|likely benign|uncertain significance | 12 | 32755771 | 32755771 | Human | 2 | name , trait , alternate_id |
| 156355804 | CV2129896 | single nucleotide variant | NM_001040436.3(YARS2):c.1116C>G (p.Ala372=) | not provided [RCV002966648] | likely benign | 12 | 32750095 | 32750095 | Human | | name |
| 155951910 | CV2133280 | single nucleotide variant | NM_001040436.3(YARS2):c.107A>G (p.Gln36Arg) | Inborn genetic diseases [RCV002994680]|not provided [RCV003011115] | uncertain significance | 12 | 32755768 | 32755768 | Human | 1 | name |
| 156316645 | CV2140338 | single nucleotide variant | NM_001040436.3(YARS2):c.1027C>A (p.Arg343=) | not provided [RCV003011427] | likely benign | 12 | 32750795 | 32750795 | Human | | name |
| 156192476 | CV2162206 | single nucleotide variant | NM_001040436.3(YARS2):c.281C>A (p.Ala94Glu) | not provided [RCV003041694] | uncertain significance | 12 | 32755594 | 32755594 | Human | | name |
| 156031759 | CV2182190 | deletion | NM_001040436.3(YARS2):c.662del (p.Tyr221fs) | not provided [RCV003036213] | pathogenic | 12 | 32755213 | 32755213 | Human | | name |
| 156240767 | CV2231304 | single nucleotide variant | NM_001040436.3(YARS2):c.287T>G (p.Leu96Arg) | Inborn genetic diseases [RCV002713362] | uncertain significance | 12 | 32755588 | 32755588 | Human | 1 | name |
| 156367457 | CV2266800 | single nucleotide variant | NM_001040436.3(YARS2):c.170C>T (p.Thr57Met) | Inborn genetic diseases [RCV002813762] | uncertain significance | 12 | 32755705 | 32755705 | Human | 1 | name |
| 155983358 | CV2344298 | single nucleotide variant | NM_001040436.3(YARS2):c.103G>A (p.Ala35Thr) | Inborn genetic diseases [RCV002974056] | uncertain significance | 12 | 32755772 | 32755772 | Human | 1 | name |
| 401931982 | CV2806851 | single nucleotide variant | NM_001040436.3(YARS2):c.1272A>C (p.Arg424=) | not provided [RCV003391703] | likely benign | 12 | 32749939 | 32749939 | Human | | name |
| 405181823 | CV2914134 | single nucleotide variant | NM_001040436.3(YARS2):c.1002G>A (p.Gln334=) | not provided [RCV003563990] | likely benign | 12 | 32750820 | 32750820 | Human | | name |
| 405041766 | CV3007570 | single nucleotide variant | NM_001040436.3(YARS2):c.1374A>C (p.Gly458=) | not provided [RCV003696378] | likely benign | 12 | 32747264 | 32747264 | Human | | name |
| 405043307 | CV3007646 | single nucleotide variant | NM_001040436.3(YARS2):c.1095T>C (p.Ser365=) | not provided [RCV003696426] | likely benign | 12 | 32750727 | 32750727 | Human | | name |
| 405205224 | CV3117052 | deletion | NM_001040436.3(YARS2):c.382del (p.Glu128fs) | not provided [RCV003822536] | pathogenic | 12 | 32755493 | 32755493 | Human | | name |
| 405060007 | CV3129411 | single nucleotide variant | NM_001040436.3(YARS2):c.1044A>G (p.Arg348=) | not provided [RCV003832680] | likely benign | 12 | 32750778 | 32750778 | Human | | name |
| 405131181 | CV3133436 | single nucleotide variant | NM_001040436.3(YARS2):c.1296C>T (p.Gly432=) | not provided [RCV003838406] | likely benign | 12 | 32747342 | 32747342 | Human | | name |
| 402494462 | CV3182987 | single nucleotide variant | NM_001040436.3(YARS2):c.1302C>T (p.Val434=) | not provided [RCV003877295] | likely benign | 12 | 32747336 | 32747336 | Human | | name |
| 11665712 | CV332103 | single nucleotide variant | NM_001040436.3(YARS2):c.1356A>G (p.Gln452=) | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000289715]|Lethal Encephalopathy [RCV000329729]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001114814]|Myopathy, lactic acidosis, and sideroblastic anemia [RCV000380699]|not provided [RCV000968251] | benign|likely benign | 12 | 32747282 | 32747282 | Human | 2 | name |
| 405667577 | CV3359801 | single nucleotide variant | NM_001040436.3(YARS2):c.281C>T (p.Ala94Val) | Inborn genetic diseases [RCV004485799] | uncertain significance | 12 | 32755594 | 32755594 | Human | 1 | name |
| 408367109 | CV3513729 | single nucleotide variant | NM_001040436.3(YARS2):c.1068T>C (p.Leu356=) | YARS2-related disorder [RCV004757837] | likely benign | 12 | 32750754 | 32750754 | Human | | name , trait , alternate_id |
| 596925659 | CV3530542 | single nucleotide variant | NM_001040436.3(YARS2):c.269G>A (p.Gly90Asp) | not provided [RCV004778127] | uncertain significance | 12 | 32755606 | 32755606 | Human | | name |
| 12849647 | CV373206 | single nucleotide variant | NM_001040436.3(YARS2):c.181C>G (p.Leu61Val) | not provided [RCV000433553] | likely pathogenic|conflicting interpretations of pathogenicity | 12 | 32755694 | 32755694 | Human | | name |
| 597906531 | CV3738771 | single nucleotide variant | NM_001040436.3(YARS2):c.1368G>A (p.Lys456=) | not provided [RCV005073006] | likely benign | 12 | 32747270 | 32747270 | Human | | name |
| 12847669 | CV375060 | single nucleotide variant | NM_001040436.3(YARS2):c.280G>A (p.Ala94Thr) | Inborn genetic diseases [RCV005298489]|not provided [RCV000443901] | uncertain significance | 12 | 32755595 | 32755595 | Human | 1 | name |
| 597962067 | CV3753592 | single nucleotide variant | NM_001040436.3(YARS2):c.1209C>T (p.Leu403=) | not provided [RCV005081896] | likely benign | 12 | 32750002 | 32750002 | Human | | name |
| 597876667 | CV3860153 | single nucleotide variant | NM_001040436.3(YARS2):c.1005G>A (p.Leu335=) | not provided [RCV005198362] | likely benign | 12 | 32750817 | 32750817 | Human | | name |
| 597844984 | CV3880345 | single nucleotide variant | NM_001040436.3(YARS2):c.166G>A (p.Gly56Arg) | not provided [RCV005227233] | uncertain significance | 12 | 32755709 | 32755709 | Human | | name |
| 598127085 | CV3882452 | single nucleotide variant | NM_001040436.3(YARS2):c.122C>T (p.Ala41Val) | not provided [RCV005234004] | uncertain significance | 12 | 32755753 | 32755753 | Human | | name |
| 12893621 | CV408636 | deletion | NM_001040436.3(YARS2):c.842del (p.Lys281fs) | not provided [RCV000479623] | pathogenic | 12 | 32754023 | 32754023 | Human | | name |
| 12907100 | CV415330 | duplication | NM_001040436.3(YARS2):c.616dup (p.Leu206fs) | not provided [RCV000490030] | likely pathogenic | 12 | 32755258 | 32755259 | Human | | name |
| 8574768 | CV108176 | single nucleotide variant | NM_001040436.3(YARS2):c.572G>A (p.Gly191Asp) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000088672] | pathogenic | 12 | 32755303 | 32755303 | Human | 1 | name |
| 150424046 | CV1184692 | single nucleotide variant | NM_001040436.3(YARS2):c.553T>C (p.Phe185Leu) | not provided [RCV001556144] | likely pathogenic | 12 | 32755322 | 32755322 | Human | | name |
| 150553029 | CV1298040 | single nucleotide variant | NM_001040436.3(YARS2):c.707A>G (p.Tyr236Cys) | not provided [RCV001768653] | uncertain significance | 12 | 32755168 | 32755168 | Human | | name |
| 151234811 | CV1320532 | single nucleotide variant | NM_001040436.3(YARS2):c.687C>A (p.Phe229Leu) | not provided [RCV001800156] | uncertain significance | 12 | 32755188 | 32755188 | Human | | name |
| 151734520 | CV1393160 | single nucleotide variant | NM_001040436.3(YARS2):c.506C>T (p.Thr169Ile) | not provided [RCV001967455] | uncertain significance | 12 | 32755369 | 32755369 | Human | | name |
| 151797522 | CV1401208 | single nucleotide variant | NM_001040436.3(YARS2):c.931G>A (p.Asp311Asn) | not provided [RCV002011265] | uncertain significance | 12 | 32753934 | 32753934 | Human | | name |
| 151739602 | CV1455223 | single nucleotide variant | NM_001040436.3(YARS2):c.811G>A (p.Val271Ile) | not provided [RCV002005684] | uncertain significance | 12 | 32754054 | 32754054 | Human | | name |
| 151713809 | CV1473145 | single nucleotide variant | NM_001040436.3(YARS2):c.326T>C (p.Ile109Thr) | not provided [RCV001889922] | uncertain significance | 12 | 32755549 | 32755549 | Human | | name |
| 156315322 | CV1907291 | single nucleotide variant | NM_001040436.3(YARS2):c.472C>G (p.Leu158Val) | Inborn genetic diseases [RCV003274236]|not provided [RCV003088687] | uncertain significance | 12 | 32755403 | 32755403 | Human | 1 | name |
| 156028086 | CV1923006 | single nucleotide variant | NM_001040436.3(YARS2):c.709G>T (p.Gly237Ter) | not provided [RCV002637036] | pathogenic | 12 | 32755166 | 32755166 | Human | | name |
| 156331511 | CV1954132 | single nucleotide variant | NM_001040436.3(YARS2):c.688T>C (p.Tyr230His) | not provided [RCV002580026] | uncertain significance | 12 | 32755187 | 32755187 | Human | | name |
| 156290785 | CV1961493 | single nucleotide variant | NM_001040436.3(YARS2):c.502T>C (p.Phe168Leu) | Inborn genetic diseases [RCV004064481]|not provided [RCV002577823] | uncertain significance | 12 | 32755373 | 32755373 | Human | 1 | name |
| 156410932 | CV1966046 | single nucleotide variant | NM_001040436.3(YARS2):c.488G>C (p.Arg163Pro) | not provided [RCV002587321] | uncertain significance | 12 | 32755387 | 32755387 | Human | | name |
| 156258119 | CV1977426 | single nucleotide variant | NM_001040436.3(YARS2):c.431T>C (p.Leu144Pro) | not provided [RCV002597690] | uncertain significance | 12 | 32755444 | 32755444 | Human | | name |
| 156212387 | CV1983479 | single nucleotide variant | NM_001040436.3(YARS2):c.563C>T (p.Ala188Val) | not provided [RCV002626126] | uncertain significance | 12 | 32755312 | 32755312 | Human | | name |
| 156057150 | CV2003556 | single nucleotide variant | NM_001040436.3(YARS2):c.948G>T (p.Arg316Ser) | not provided [RCV002659561] | uncertain significance | 12 | 32750874 | 32750874 | Human | | name |
| 156126594 | CV2012439 | single nucleotide variant | NM_001040436.3(YARS2):c.986T>C (p.Ile329Thr) | not provided [RCV002696244] | uncertain significance | 12 | 32750836 | 32750836 | Human | | name |
| 156007642 | CV2015128 | single nucleotide variant | NM_001040436.3(YARS2):c.592C>G (p.Leu198Val) | not provided [RCV002690348] | uncertain significance | 12 | 32755283 | 32755283 | Human | | name |
| 156208597 | CV2032169 | single nucleotide variant | NM_001040436.3(YARS2):c.641T>C (p.Met214Thr) | not provided [RCV002711676] | uncertain significance | 12 | 32755234 | 32755234 | Human | | name |
| 155952750 | CV2033205 | single nucleotide variant | NM_001040436.3(YARS2):c.449C>A (p.Ala150Asp) | not provided [RCV002730769] | uncertain significance | 12 | 32755426 | 32755426 | Human | | name |
| 155965931 | CV2048864 | single nucleotide variant | NM_001040436.3(YARS2):c.543C>G (p.His181Gln) | not provided [RCV002776489] | uncertain significance | 12 | 32755332 | 32755332 | Human | | name |
| 156151323 | CV2049102 | single nucleotide variant | NM_001040436.3(YARS2):c.634G>A (p.Glu212Lys) | not provided [RCV002801300] | uncertain significance | 12 | 32755241 | 32755241 | Human | | name |
| 156325604 | CV2054097 | single nucleotide variant | NM_001040436.3(YARS2):c.361G>C (p.Asp121His) | not provided [RCV002810374] | uncertain significance | 12 | 32755514 | 32755514 | Human | | name |
| 155937839 | CV2054691 | single nucleotide variant | NM_001040436.3(YARS2):c.775A>G (p.Asn259Asp) | not provided [RCV002815493] | uncertain significance | 12 | 32755100 | 32755100 | Human | | name |
| 10403341 | CV205770 | single nucleotide variant | NM_001040436.3(YARS2):c.751A>G (p.Ile251Val) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000191148]|not provided [RCV002517034] | likely pathogenic | 12 | 32755124 | 32755124 | Human | 1 | name |
| 156013145 | CV2071972 | single nucleotide variant | NM_001040436.3(YARS2):c.308G>C (p.Arg103Pro) | not provided [RCV002843985] | uncertain significance | 12 | 32755567 | 32755567 | Human | | name |
| 156223733 | CV2103590 | single nucleotide variant | NM_001040436.3(YARS2):c.416C>T (p.Ala139Val) | Inborn genetic diseases [RCV004066232]|not provided [RCV002918670] | uncertain significance | 12 | 32755459 | 32755459 | Human | 1 | name |
| 156206417 | CV2110296 | single nucleotide variant | NM_001040436.3(YARS2):c.991C>T (p.His331Tyr) | not provided [RCV002957572] | uncertain significance | 12 | 32750831 | 32750831 | Human | | name |
| 10409144 | CV211633 | single nucleotide variant | NM_001040436.3(YARS2):c.933C>G (p.Asp311Glu) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV003152694]|not provided [RCV000195520] | likely pathogenic | 12 | 32753932 | 32753932 | Human | 1 | name |
| 10410310 | CV211634 | single nucleotide variant | NM_001040436.3(YARS2):c.928C>T (p.Pro310Ser) | Inborn genetic diseases [RCV002515450]|not provided [RCV000197920] | conflicting interpretations of pathogenicity|uncertain significance | 12 | 32753937 | 32753937 | Human | 1 | name |
| 10409923 | CV211635 | single nucleotide variant | NM_001040436.3(YARS2):c.883G>A (p.Asp295Asn) | Inborn genetic diseases [RCV002515449]|not provided [RCV002515448]|not specified [RCV000197128] | likely benign|uncertain significance | 12 | 32753982 | 32753982 | Human | 1 | name |
| 10409722 | CV211636 | single nucleotide variant | NM_001040436.3(YARS2):c.374G>C (p.Arg125Pro) | not provided [RCV000196700] | likely pathogenic | 12 | 32755501 | 32755501 | Human | | name |
| 155931527 | CV2129180 | single nucleotide variant | NM_001040436.3(YARS2):c.731G>C (p.Gly244Ala) | not provided [RCV002970654] | likely pathogenic | 12 | 32755144 | 32755144 | Human | | name |
| 156098420 | CV2132158 | single nucleotide variant | NM_001040436.3(YARS2):c.994A>G (p.Ile332Val) | not provided [RCV003002119] | uncertain significance | 12 | 32750828 | 32750828 | Human | | name |
| 156318195 | CV2137868 | single nucleotide variant | NM_001040436.3(YARS2):c.871T>C (p.Trp291Arg) | Inborn genetic diseases [RCV004681580]|not provided [RCV002963028] | uncertain significance | 12 | 32753994 | 32753994 | Human | 1 | name |
| 156042459 | CV2143527 | single nucleotide variant | NM_001040436.3(YARS2):c.578T>G (p.Phe193Cys) | Inborn genetic diseases [RCV002999580]|not provided [RCV002999581] | uncertain significance | 12 | 32755297 | 32755297 | Human | 1 | name |
| 156189806 | CV2148680 | duplication | NM_001040436.3(YARS2):c.530dup (p.Tyr177Ter) | not provided [RCV003005964] | pathogenic | 12 | 32755344 | 32755345 | Human | | name |
| 156242663 | CV2151196 | single nucleotide variant | NM_001040436.3(YARS2):c.406C>T (p.Arg136Cys) | Inborn genetic diseases [RCV005301220]|not provided [RCV003026064] | uncertain significance | 12 | 32755469 | 32755469 | Human | 1 | name |
| 156355180 | CV2154231 | single nucleotide variant | NM_001040436.3(YARS2):c.964A>G (p.Thr322Ala) | not provided [RCV003031178] | uncertain significance | 12 | 32750858 | 32750858 | Human | | name |
| 156163075 | CV2159080 | single nucleotide variant | NM_001040436.3(YARS2):c.379A>T (p.Lys127Ter) | not provided [RCV003023266] | pathogenic | 12 | 32755496 | 32755496 | Human | | name |
| 156302487 | CV2189746 | single nucleotide variant | NM_001040436.3(YARS2):c.590C>T (p.Thr197Met) | not provided [RCV003062027] | uncertain significance | 12 | 32755285 | 32755285 | Human | | name |
| 156356551 | CV2257451 | single nucleotide variant | NM_001040436.3(YARS2):c.299A>C (p.His100Pro) | Inborn genetic diseases [RCV002812178] | uncertain significance | 12 | 32755576 | 32755576 | Human | 1 | name |
| 329362776 | CV2449334 | single nucleotide variant | NM_001040436.3(YARS2):c.811G>C (p.Val271Leu) | Inborn genetic diseases [RCV003181082] | uncertain significance | 12 | 32754054 | 32754054 | Human | 1 | name |
| 329847684 | CV2524432 | single nucleotide variant | NM_001040436.3(YARS2):c.427G>C (p.Ala143Pro) | not provided [RCV003227324] | uncertain significance | 12 | 32755448 | 32755448 | Human | | name |
| 401727207 | CV2721749 | single nucleotide variant | NM_001040436.3(YARS2):c.793G>C (p.Asp265His) | Inborn genetic diseases [RCV003246657] | uncertain significance | 12 | 32754072 | 32754072 | Human | 1 | name |
| 401796969 | CV2739877 | single nucleotide variant | NM_001040436.3(YARS2):c.997A>G (p.Met333Val) | not provided [RCV003319838] | uncertain significance | 12 | 32750825 | 32750825 | Human | | name |
| 401828141 | CV2744511 | single nucleotide variant | NM_001040436.3(YARS2):c.439G>A (p.Gly147Arg) | not provided [RCV003327908] | uncertain significance | 12 | 32755436 | 32755436 | Human | | name |
| 405133618 | CV3130094 | single nucleotide variant | NM_001040436.3(YARS2):c.655T>G (p.Phe219Val) | not provided [RCV003838517] | uncertain significance | 12 | 32755220 | 32755220 | Human | | name |
| 405184373 | CV3152792 | single nucleotide variant | NM_001040436.3(YARS2):c.631C>T (p.Pro211Ser) | not provided [RCV003842783] | uncertain significance | 12 | 32755244 | 32755244 | Human | | name |
| 11600498 | CV316913 | single nucleotide variant | NM_001040436.3(YARS2):c.917T>C (p.Phe306Ser) | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000331600]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000274193] | uncertain significance | 12 | 32753948 | 32753948 | Human | 2 | name |
| 11601962 | CV316916 | single nucleotide variant | NM_001040436.3(YARS2):c.626A>G (p.Lys209Arg) | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000286673]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000320609]|YARS2-related disorder [RCV003920279]|not provided [RCV000488251] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 32755249 | 32755249 | Human | 2 | name , trait , alternate_id |
| 402466815 | CV3177782 | single nucleotide variant | NM_001040436.3(YARS2):c.668T>C (p.Val223Ala) | not provided [RCV003873220] | uncertain significance | 12 | 32755207 | 32755207 | Human | | name |
| 11621875 | CV324515 | single nucleotide variant | NM_001040436.3(YARS2):c.934G>C (p.Asp312His) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000403447]|Myopathy, lactic acidosis, and sideroblastic anemia [RCV000353659]|not provided [RCV002056291] | likely benign|uncertain significance | 12 | 32753931 | 32753931 | Human | 2 | name |
| 11614923 | CV330703 | single nucleotide variant | NM_001040436.3(YARS2):c.572G>T (p.Gly191Val) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000280875]|Myopathy, lactic acidosis, and sideroblastic anemia [RCV000377688]|not provided [RCV000676970] | benign|likely benign | 12 | 32755303 | 32755303 | Human | 2 | name |
| 11620569 | CV330705 | single nucleotide variant | NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln) | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000338294]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000398304]|not provided [RCV001840483] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 32755340 | 32755340 | Human | 2 | name |
| 11660586 | CV332108 | single nucleotide variant | NM_001040436.3(YARS2):c.327C>G (p.Ile109Met) | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000406428]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000368302] | uncertain significance | 12 | 32755548 | 32755548 | Human | 2 | name |
| 405667585 | CV3359802 | single nucleotide variant | NM_001040436.3(YARS2):c.491C>G (p.Ser164Cys) | Inborn genetic diseases [RCV004485800] | uncertain significance | 12 | 32755384 | 32755384 | Human | 1 | name |
| 407456559 | CV3493760 | single nucleotide variant | NM_001040436.3(YARS2):c.658T>C (p.Phe220Leu) | Inborn genetic diseases [RCV004685903] | uncertain significance | 12 | 32755217 | 32755217 | Human | 1 | name |
| 407456556 | CV3493761 | single nucleotide variant | NM_001040436.3(YARS2):c.416C>G (p.Ala139Gly) | Inborn genetic diseases [RCV004685904] | uncertain significance | 12 | 32755459 | 32755459 | Human | 1 | name |
| 408375326 | CV3502602 | single nucleotide variant | NM_001040436.3(YARS2):c.596T>C (p.Leu199Pro) | not provided [RCV004726189] | uncertain significance | 12 | 32755279 | 32755279 | Human | | name |
| 408386972 | CV3524323 | single nucleotide variant | NM_001040436.3(YARS2):c.353G>T (p.Arg118Leu) | Inborn genetic diseases [RCV005301451]|not provided [RCV004768197] | uncertain significance | 12 | 32755522 | 32755522 | Human | 1 | name |
| 408387367 | CV3527036 | single nucleotide variant | NM_001040436.3(YARS2):c.974C>A (p.Pro325His) | not provided [RCV004773338] | uncertain significance | 12 | 32750848 | 32750848 | Human | | name |
| 596927502 | CV3536729 | single nucleotide variant | NM_001040436.3(YARS2):c.514G>A (p.Asp172Asn) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV004790139] | uncertain significance | 12 | 32755361 | 32755361 | Human | 1 | name |
| 596932649 | CV3539275 | single nucleotide variant | NM_001040436.3(YARS2):c.895C>G (p.Pro299Ala) | not provided [RCV004793897] | uncertain significance | 12 | 32753970 | 32753970 | Human | | name |
| 596938763 | CV3549801 | single nucleotide variant | NM_001040436.3(YARS2):c.347C>T (p.Thr116Met) | not provided [RCV004812842] | uncertain significance | 12 | 32755528 | 32755528 | Human | | name |
| 596938943 | CV3549909 | single nucleotide variant | NM_001040436.3(YARS2):c.670C>T (p.Leu224Phe) | not provided [RCV004812950] | uncertain significance | 12 | 32755205 | 32755205 | Human | | name |
| 597868304 | CV3742908 | single nucleotide variant | NM_001040436.3(YARS2):c.547G>A (p.Val183Met) | not provided [RCV005068331] | uncertain significance | 12 | 32755328 | 32755328 | Human | | name |
| 597886171 | CV3787376 | single nucleotide variant | NM_001040436.3(YARS2):c.399G>C (p.Glu133Asp) | not provided [RCV005124942] | uncertain significance | 12 | 32755476 | 32755476 | Human | | name |
| 598241937 | CV3933875 | single nucleotide variant | NM_001040436.3(YARS2):c.934G>A (p.Asp312Asn) | Inborn genetic diseases [RCV005297019] | uncertain significance | 12 | 32753931 | 32753931 | Human | 1 | name |
| 598241940 | CV3933876 | single nucleotide variant | NM_001040436.3(YARS2):c.445G>C (p.Glu149Gln) | Inborn genetic diseases [RCV005297020] | uncertain significance | 12 | 32755430 | 32755430 | Human | 1 | name |
| 13834598 | CV585847 | single nucleotide variant | NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV002493321]|not provided [RCV000730151] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity | 12 | 32755241 | 32755241 | Human | 1 | name |
| 14741489 | CV666858 | duplication | NM_001040436.3(YARS2):c.1274+187_1274+189dup | not provided [RCV000840807] | benign | 12 | 32749747 | 32749748 | Human | | name |
| 40887266 | CV973844 | single nucleotide variant | NM_001040436.3(YARS2):c.653A>G (p.Glu218Gly) | Inborn genetic diseases [RCV001266762] | uncertain significance | 12 | 32755222 | 32755222 | Human | 1 | name |
| 126743308 | CV1017607 | single nucleotide variant | NM_001040436.3(YARS2):c.1427A>G (p.Gln476Arg) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001330170] | uncertain significance | 12 | 32747211 | 32747211 | Human | 1 | name |
| 8574769 | CV108177 | single nucleotide variant | NM_001040436.3(YARS2):c.1078C>T (p.Arg360Ter) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000088673] | pathogenic | 12 | 32750744 | 32750744 | Human | 1 | name |
| 8574770 | CV108178 | single nucleotide variant | NM_001040436.3(YARS2):c.1303A>G (p.Ser435Gly) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000088674] | pathogenic | 12 | 32747335 | 32747335 | Human | 1 | name |
| 150530117 | CV1293350 | single nucleotide variant | NM_001040436.3(YARS2):c.1271G>A (p.Arg424Gln) | not provided [RCV001756570] | uncertain significance | 12 | 32749940 | 32749940 | Human | | name |
| 156359876 | CV1887622 | single nucleotide variant | NM_001040436.3(YARS2):c.1154C>G (p.Ser385Cys) | not provided [RCV003091631] | uncertain significance | 12 | 32750057 | 32750057 | Human | | name |
| 156121998 | CV1959534 | single nucleotide variant | NM_001040436.3(YARS2):c.1043G>A (p.Arg348Gln) | not provided [RCV002571902] | uncertain significance | 12 | 32750779 | 32750779 | Human | | name |
| 156382858 | CV1960994 | single nucleotide variant | NM_001040436.3(YARS2):c.1105T>A (p.Cys369Ser) | not provided [RCV002583294] | uncertain significance | 12 | 32750106 | 32750106 | Human | | name |
| 156351417 | CV1965462 | single nucleotide variant | NM_001040436.3(YARS2):c.1280G>A (p.Arg427Gln) | not provided [RCV002581087] | likely benign | 12 | 32747358 | 32747358 | Human | | name |
| 156150955 | CV1967440 | single nucleotide variant | NM_001040436.3(YARS2):c.1409A>G (p.Tyr470Cys) | not provided [RCV002594143] | uncertain significance | 12 | 32747229 | 32747229 | Human | | name |
| 156268804 | CV1970859 | single nucleotide variant | NM_001040436.3(YARS2):c.1279C>T (p.Arg427Ter) | not provided [RCV002598023] | uncertain significance | 12 | 32747359 | 32747359 | Human | | name |
| 156350937 | CV1985601 | single nucleotide variant | NM_001040436.3(YARS2):c.1187C>G (p.Ala396Gly) | Inborn genetic diseases [RCV004066631]|not provided [RCV002631975] | uncertain significance | 12 | 32750024 | 32750024 | Human | 1 | name |
| 156227386 | CV2009580 | single nucleotide variant | NM_001040436.3(YARS2):c.1022A>G (p.Glu341Gly) | not provided [RCV002701232] | uncertain significance | 12 | 32750800 | 32750800 | Human | | name |
| 156165246 | CV2019678 | single nucleotide variant | NM_001040436.3(YARS2):c.1133T>C (p.Ile378Thr) | not provided [RCV002710318] | uncertain significance | 12 | 32750078 | 32750078 | Human | | name |
| 155913495 | CV2025983 | single nucleotide variant | NM_001040436.3(YARS2):c.1018C>T (p.Pro340Ser) | not provided [RCV002750308] | uncertain significance | 12 | 32750804 | 32750804 | Human | | name |
| 156148058 | CV2037478 | single nucleotide variant | NM_001040436.3(YARS2):c.1039A>G (p.Lys347Glu) | Inborn genetic diseases [RCV004064806]|not provided [RCV002786759] | uncertain significance | 12 | 32750783 | 32750783 | Human | 1 | name |
| 156107989 | CV2072414 | single nucleotide variant | NM_001040436.3(YARS2):c.1310A>T (p.Asn437Ile) | not provided [RCV002870786] | uncertain significance | 12 | 32747328 | 32747328 | Human | | name |
| 10411056 | CV211629 | single nucleotide variant | NM_001040436.3(YARS2):c.1396A>G (p.Lys466Glu) | not provided [RCV000199469] | likely pathogenic | 12 | 32747242 | 32747242 | Human | | name |
| 156368438 | CV2267006 | single nucleotide variant | NM_001040436.3(YARS2):c.1021G>A (p.Glu341Lys) | Inborn genetic diseases [RCV002813912]|not provided [RCV003546895] | uncertain significance | 12 | 32750801 | 32750801 | Human | 1 | name |
| 156292207 | CV2306187 | single nucleotide variant | NM_001040436.3(YARS2):c.1355A>T (p.Gln452Leu) | Inborn genetic diseases [RCV002897259] | uncertain significance | 12 | 32747283 | 32747283 | Human | 1 | name |
| 156402719 | CV2371478 | single nucleotide variant | NM_001040436.3(YARS2):c.1210G>A (p.Asp404Asn) | Inborn genetic diseases [RCV002657594] | uncertain significance | 12 | 32750001 | 32750001 | Human | 1 | name |
| 329392794 | CV2439188 | single nucleotide variant | NM_001040436.3(YARS2):c.1028G>A (p.Arg343Gln) | Inborn genetic diseases [RCV003192845] | uncertain significance | 12 | 32750794 | 32750794 | Human | 1 | name |
| 401731962 | CV2690230 | single nucleotide variant | NM_001040436.3(YARS2):c.1189C>T (p.Pro397Ser) | Inborn genetic diseases [RCV003290044]|not provided [RCV003730495] | likely benign | 12 | 32750022 | 32750022 | Human | 1 | name |
| 401893959 | CV2770160 | single nucleotide variant | NM_001040436.3(YARS2):c.1141C>G (p.Leu381Val) | Inborn genetic diseases [RCV003371032] | uncertain significance | 12 | 32750070 | 32750070 | Human | 1 | name |
| 404977784 | CV2851490 | single nucleotide variant | NM_001040436.3(YARS2):c.1241G>T (p.Arg414Leu) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV003486290] | uncertain significance | 12 | 32749970 | 32749970 | Human | 1 | name |
| 11607348 | CV316912 | single nucleotide variant | NM_001040436.3(YARS2):c.1241G>A (p.Arg414His) | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000342313]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000393685]|not provided [RCV003727657] | uncertain significance | 12 | 32749970 | 32749970 | Human | 2 | name |
| 407456560 | CV3493759 | single nucleotide variant | NM_001040436.3(YARS2):c.1283T>A (p.Met428Lys) | Inborn genetic diseases [RCV004685902] | uncertain significance | 12 | 32747355 | 32747355 | Human | 1 | name |
| 597631239 | CV3630639 | single nucleotide variant | NM_001040436.3(YARS2):c.1034C>T (p.Pro345Leu) | Inborn genetic diseases [RCV004967610] | uncertain significance | 12 | 32750788 | 32750788 | Human | 1 | name |
| 598129659 | CV3887078 | single nucleotide variant | NM_001040436.3(YARS2):c.1424T>C (p.Leu475Pro) | not provided [RCV005245138] | uncertain significance | 12 | 32747214 | 32747214 | Human | | name |
| 598190108 | CV4008790 | single nucleotide variant | NM_001040436.3(YARS2):c.1214C>T (p.Pro405Leu) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV005396289] | uncertain significance | 12 | 32749997 | 32749997 | Human | 1 | name |
| 13437335 | CV414708 | single nucleotide variant | NM_001040436.3(YARS2):c.1106G>A (p.Cys369Tyr) | Mitochondrial disease [RCV000508696] | pathogenic | 12 | 32750105 | 32750105 | Human | 1 | name |
| 126731278 | CV1021027 | duplication | NM_001040436.3(YARS2):c.517_521dup (p.Ala175fs) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001333674] | pathogenic | 12 | 32755353 | 32755354 | Human | | name |
| 126731275 | CV1021028 | microsatellite | NM_001040436.3(YARS2):c.404_405del (p.Glu135fs) | Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001333673] | pathogenic | 12 | 32755470 | 32755471 | Human | | name |
| 150427011 | CV1187897 | microsatellite | NM_001040436.3(YARS2):c.789AGA[1] (p.Glu264del) | not provided [RCV001560346] | likely pathogenic | 12 | 32754071 | 32754073 | Human | | name |
| 156009396 | CV2051322 | microsatellite | NM_001040436.3(YARS2):c.774CAA[1] (p.Asn259del) | not provided [RCV002820041] | uncertain significance | 12 | 32755096 | 32755098 | Human | | name |
| 156326068 | CV2068587 | microsatellite | NM_001040436.3(YARS2):c.330_331del (p.Leu111fs) | not provided [RCV002835022] | pathogenic | 12 | 32755544 | 32755545 | Human | | name |
| 402473018 | CV2908763 | insertion | NM_001040436.3(YARS2):c.208_209insT (p.Ala70fs) | not provided [RCV003570904] | pathogenic | 12 | 32755666 | 32755667 | Human | | name |
| 598236073 | CV3893505 | microsatellite | NM_001040436.3(YARS2):c.770TCA[1] (p.Ile258del) | not provided [RCV005256238] | uncertain significance | 12 | 32755100 | 32755102 | Human | | name |
| 153304482 | CV1687095 | microsatellite | NM_001040436.3(YARS2):c.1384_1387del (p.Leu462fs) | not provided [RCV002262383] | uncertain significance | 12 | 32747251 | 32747254 | Human | | name |
| 156373650 | CV2028315 | deletion | NM_001040436.3(YARS2):c.1314_1316del (p.His438del) | not provided [RCV002721731] | uncertain significance | 12 | 32747322 | 32747324 | Human | | name |
| 10411194 | CV211630 | indel | NM_001040436.3(YARS2):c.1360_1362delinsGA (p.Ile454fs) | not provided [RCV000199754] | likely pathogenic | 12 | 32747276 | 32747278 | Human | | name |
| 156236603 | CV1999614 | deletion | NM_001040436.3(YARS2):c.827_832del (p.Ser276_Thr277del) | not provided [RCV002667779] | uncertain significance | 12 | 32754033 | 32754038 | Human | | name |
| 13437458 | CV414707 | duplication | NM_001040436.3(YARS2):c.1147_1164dup (p.Val383_Glu388dup) | Mitochondrial disease [RCV000508833] | pathogenic | 12 | 32750046 | 32750047 | Human | 1 | name |
| 402473024 | CV2908764 | deletion | NM_001040436.3(YARS2):c.203_205del (p.Gly68_Thr69delinsAla) | not provided [RCV003570905] | uncertain significance | 12 | 32755670 | 32755672 | Human | | name |
