| - GRCh37:
- Chr3:45557646
- GRCh38:
- Chr3:45516154
| LARS2 | S641N | Inborn genetic diseases, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, not provided,
Perrault syndrome 4 | Uncertain significance
(Apr 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45588850
- GRCh38:
- Chr3:45547358
| LARS2 | N847S | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Perrault syndrome 4, not provided
| Uncertain significance
(Aug 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45559484
- GRCh38:
- Chr3:45517992
| LARS2 | P712S | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | Likely pathogenic
(Apr 29, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr3:45518045
- GRCh38:
- Chr3:45476553
| LARS2 | S315L | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, not provided | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:45441819
- GRCh38:
- Chr3:45400327
| LARS2 | T106I | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | Uncertain significance
(Jan 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:45530302
- GRCh38:
- Chr3:45488810
| LARS2, LARS2-AS1 | E413K | not provided, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Perrault syndrome 4
| Uncertain significance
(Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45537850
- GRCh38:
- Chr3:45496358
| LARS2, LARS2-AS1 | P536L | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Perrault syndrome 4 | Likely pathogenic
(Mar 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45459050
- GRCh38:
- Chr3:45417558
| LARS2 | Q147P | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Perrault syndrome 4 | Likely pathogenic
(Mar 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45559449
- GRCh38:
- Chr3:45517957
| LARS2 | T700I | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | Likely pathogenic
(Jul 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:45458998
- GRCh38:
- Chr3:45417506
| LARS2 | A130T | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | Likely pathogenic
(Jul 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:45533082
- GRCh38:
- Chr3:45491590
| LARS2, LARS2-AS1 | D438G | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | Likely pathogenic
(Jul 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:45500311
- GRCh38:
- Chr3:45458819
| LARS2 | R228H | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, not provided | Likely pathogenic
(Jul 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45530243
- GRCh38:
- Chr3:45488751
| LARS2, LARS2-AS1 | A393D | Perrault syndrome 4, not specified, not provided,
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | Conflicting interpretations of pathogenicity
(Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:45554680
- GRCh38:
- Chr3:45513188
| LARS2 | R605H | not specified, Perrault syndrome 4, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome,
not provided | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45533058
- GRCh38:
- Chr3:45491566
| LARS2, LARS2-AS1 | A430V | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | Pathogenic
(Jul 21, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:45565554
- GRCh38:
- Chr3:45524062
| LARS2 | | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, not specified, Perrault syndrome 4,
not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45559519
- GRCh38:
- Chr3:45518027
| LARS2 | | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Perrault syndrome 4, not specified,
not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45557707
- GRCh38:
- Chr3:45516215
| LARS2 | | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Perrault syndrome 4, not provided,
not specified | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45542083
- GRCh38:
- Chr3:45500591
| LARS2, LARS2-AS1 | | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Perrault syndrome 4, not specified,
not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45533224
- GRCh38:
- Chr3:45491732
| LARS2, LARS2-AS1 | | not specified, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, not provided,
Perrault syndrome 4 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45527218
- GRCh38:
- Chr3:45485726
| LARS2, LARS2-AS1 | | not specified, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, not provided,
Perrault syndrome 4 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45461162
- GRCh38:
- Chr3:45419670
| LARS2 | N153H | Perrault syndrome 4, Perrault syndrome | Likely pathogenic
(Aug 1, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45537808
- GRCh38:
- Chr3:45496316
| LARS2, LARS2-AS1 | T522N | Rare genetic deafness, Perrault syndrome, Perrault syndrome 4,
not provided | Pathogenic/Likely pathogenic
(Jul 17, 2023) | criteria provided, multiple submitters, no conflicts |