| - GRCh37:
- Chr12:32908802
- GRCh38:
- Chr12:32755868
| YARS2 | A3T | Myopathy, lactic acidosis, and sideroblastic anemia 2 | Uncertain significance
(Dec 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32900145
- GRCh38:
- Chr12:32747211
| YARS2 | Q476R | Myopathy, lactic acidosis, and sideroblastic anemia 2 | Uncertain significance
(Dec 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32908880
- GRCh38:
- Chr12:32755946
| YARS2 | | Myopathy, lactic acidosis, and sideroblastic anemia 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32908839
- GRCh38:
- Chr12:32755905
| YARS2 | | Myopathy, lactic acidosis, and sideroblastic anemia 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32899761
- GRCh38:
- Chr12:32746827
| YARS2 | | Myopathy, lactic acidosis, and sideroblastic anemia 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32899669
- GRCh38:
- Chr12:32746735
| YARS2 | | Myopathy, lactic acidosis, and sideroblastic anemia 2 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32899660
- GRCh38:
- Chr12:32746726
| YARS2 | | Myopathy, lactic acidosis, and sideroblastic anemia 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32899543
- GRCh38:
- Chr12:32746609
| YARS2 | | Myopathy, lactic acidosis, and sideroblastic anemia 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32906989
- GRCh38:
- Chr12:32754055
| YARS2 | | not provided, Myopathy, lactic acidosis, and sideroblastic anemia 2 | Conflicting interpretations of pathogenicity
(Sep 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32908175
- GRCh38:
- Chr12:32755241
| YARS2 | E212* | Myopathy, lactic acidosis, and sideroblastic anemia 2, not provided | Pathogenic/Likely pathogenic
(May 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32908779
- GRCh38:
- Chr12:32755845
| YARS2 | | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, Myopathy, lactic acidosis, and sideroblastic anemia 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32908629
- GRCh38:
- Chr12:32755695
| YARS2 | | Myopathy, lactic acidosis, and sideroblastic anemia, not provided, Myopathy, lactic acidosis, and sideroblastic anemia 2
| Conflicting interpretations of pathogenicity
(Sep 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32908575
- GRCh38:
- Chr12:32755641
| YARS2 | | not provided, Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, Myopathy, lactic acidosis, and sideroblastic anemia 2
| Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32908482
- GRCh38:
- Chr12:32755548
| YARS2 | I109M | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, Myopathy, lactic acidosis, and sideroblastic anemia 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32908332
- GRCh38:
- Chr12:32755398
| YARS2 | | not specified, not provided, Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis,
Myopathy, lactic acidosis, and sideroblastic anemia 2 | Conflicting interpretations of pathogenicity
(Jul 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32908274
- GRCh38:
- Chr12:32755340
| YARS2 | K179Q | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, not provided, Myopathy, lactic acidosis, and sideroblastic anemia 2
| Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32908237
- GRCh38:
- Chr12:32755303
| YARS2 | G191V | not provided, Myopathy, lactic acidosis, and sideroblastic anemia 2, Myopathy, lactic acidosis, and sideroblastic anemia
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32908183
- GRCh38:
- Chr12:32755249
| YARS2 | K209R | not provided, Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, Myopathy, lactic acidosis, and sideroblastic anemia 2
| Conflicting interpretations of pathogenicity
(Sep 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32906980
- GRCh38:
- Chr12:32754046
| YARS2 | | not specified, Myopathy, lactic acidosis, and sideroblastic anemia, not provided,
Myopathy, lactic acidosis, and sideroblastic anemia 2 | Conflicting interpretations of pathogenicity
(Sep 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32906929
- GRCh38:
- Chr12:32753995
| YARS2 | | Myopathy, lactic acidosis, and sideroblastic anemia 2, not specified, not provided,
Myopathy, lactic acidosis, and sideroblastic anemia | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32906882
- GRCh38:
- Chr12:32753948
| YARS2 | F306S | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, Myopathy, lactic acidosis, and sideroblastic anemia 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32906869
- GRCh38:
- Chr12:32753935
| YARS2 | | not specified, Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, not provided,
Myopathy, lactic acidosis, and sideroblastic anemia 2 | Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32906865
- GRCh38:
- Chr12:32753931
| YARS2 | D312H | Myopathy, lactic acidosis, and sideroblastic anemia, not provided, Myopathy, lactic acidosis, and sideroblastic anemia 2
| Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32902904
- GRCh38:
- Chr12:32749970
| YARS2 | R414H | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, Myopathy, lactic acidosis, and sideroblastic anemia 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32900216
- GRCh38:
- Chr12:32747282
| DNM1L, YARS2 | | Lethal Encephalopathy, Myopathy, lactic acidosis, and sideroblastic anemia, not provided,
Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, Myopathy, lactic acidosis, and sideroblastic anemia 2 | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32900114
- GRCh38:
- Chr12:32747180
| YARS2 | | Myopathy, lactic acidosis, and sideroblastic anemia, Myopathy, lactic acidosis, and sideroblastic anemia 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32900076
- GRCh38:
- Chr12:32747142
| DNM1L, YARS2 | | Lethal Encephalopathy, Myopathy, lactic acidosis, and sideroblastic anemia, Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis,
Myopathy, lactic acidosis, and sideroblastic anemia 2 | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32899996
- GRCh38:
- Chr12:32747062
| DNM1L, YARS2 | | Lethal Encephalopathy, Myopathy, lactic acidosis, and sideroblastic anemia, Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis,
Myopathy, lactic acidosis, and sideroblastic anemia 2 | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32899976
- GRCh38:
- Chr12:32747042
| DNM1L, YARS2 | | Lethal Encephalopathy, Myopathy, lactic acidosis, and sideroblastic anemia, not provided,
Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, Myopathy, lactic acidosis, and sideroblastic anemia 2 | Benign/Likely benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32899947
- GRCh38:
- Chr12:32747013
| DNM1L, YARS2 | | Lethal Encephalopathy, Myopathy, lactic acidosis, and sideroblastic anemia, not provided,
Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, Myopathy, lactic acidosis, and sideroblastic anemia 2 | Benign/Likely benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32899929
- GRCh38:
- Chr12:32746995
| DNM1L, YARS2 | | Lethal Encephalopathy, Myopathy, lactic acidosis, and sideroblastic anemia, not provided,
Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, Myopathy, lactic acidosis, and sideroblastic anemia 2 | Benign/Likely benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32899908
- GRCh38:
- Chr12:32746974
| DNM1L, YARS2 | | Lethal Encephalopathy, Myopathy, lactic acidosis, and sideroblastic anemia, Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis,
Myopathy, lactic acidosis, and sideroblastic anemia 2 | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32899778
- GRCh38:
- Chr12:32746844
| YARS2, DNM1L | | Lethal Encephalopathy, Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, Myopathy, lactic acidosis, and sideroblastic anemia,
Myopathy, lactic acidosis, and sideroblastic anemia 2 | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32899732
- GRCh38:
- Chr12:32746798
| DNM1L, YARS2 | | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, Lethal Encephalopathy, not provided,
Myopathy, lactic acidosis, and sideroblastic anemia, Myopathy, lactic acidosis, and sideroblastic anemia 2 | Benign/Likely benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32899511
- GRCh38:
- Chr12:32746577
| YARS2 | | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, Myopathy, lactic acidosis, and sideroblastic anemia 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32899495
- GRCh38:
- Chr12:32746561
| YARS2, DNM1L | | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, Lethal Encephalopathy, Myopathy, lactic acidosis, and sideroblastic anemia,
Myopathy, lactic acidosis, and sideroblastic anemia 2 | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32906866
- GRCh38:
- Chr12:32753932
| YARS2 | D311E | not provided, Myopathy, lactic acidosis, and sideroblastic anemia 2 | Likely pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32908607
- GRCh38:
- Chr12:32755673
| YARS2 | G68S | not provided, not specified, Myopathy, lactic acidosis, and sideroblastic anemia 2
| Conflicting interpretations of pathogenicity
(Oct 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32908705
- GRCh38:
- Chr12:32755771
| YARS2 | A35D | not specified, not provided, Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis,
Myopathy, lactic acidosis, and sideroblastic anemia 2 | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32908058
- GRCh38:
- Chr12:32755124
| YARS2 | I251V | not provided, Myopathy, lactic acidosis, and sideroblastic anemia 2 | Likely pathogenic
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32908449-32908450
- GRCh38:
- Chr12:32755515-32755516
| YARS2 | D121fs | Myopathy, lactic acidosis, and sideroblastic anemia 2 | Pathogenic
(Apr 1, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32908467
- GRCh38:
- Chr12:32755533
| YARS2 | | not specified, not provided, Myopathy, lactic acidosis, and sideroblastic anemia 2
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32908518
- GRCh38:
- Chr12:32755584
| YARS2 | | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, not specified, not provided,
Myopathy, lactic acidosis, and sideroblastic anemia 2 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32903635
- GRCh38:
- Chr12:32750701
| YARS2 | | not specified, not provided, Myopathy, lactic acidosis, and sideroblastic anemia 2
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32903730
- GRCh38:
- Chr12:32750796
| YARS2 | | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, not specified, not provided,
Myopathy, lactic acidosis, and sideroblastic anemia 2 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32908353
- GRCh38:
- Chr12:32755419
| YARS2 | | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, not specified, not provided,
Myopathy, lactic acidosis, and sideroblastic anemia 2 | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32900269
- GRCh38:
- Chr12:32747335
| YARS2 | S435G | Myopathy, lactic acidosis, and sideroblastic anemia 2 | Pathogenic
(Jan 16, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr12:32903678
- GRCh38:
- Chr12:32750744
| YARS2 | R360* | Myopathy, lactic acidosis, and sideroblastic anemia 2 | Pathogenic
(Dec 17, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr12:32908237
- GRCh38:
- Chr12:32755303
| YARS2 | G191D | Myopathy, lactic acidosis, and sideroblastic anemia 2 | Pathogenic
(Dec 17, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr12:32908672
- GRCh38:
- Chr12:32755738
| YARS2 | G46D | not provided | Pathogenic
(Mar 18, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32908653
- GRCh38:
- Chr12:32755719
| YARS2 | F52L | Myopathy, lactic acidosis, and sideroblastic anemia 2, not provided | Pathogenic/Likely pathogenic
(Jul 10, 2020) | criteria provided, multiple submitters, no conflicts |