| - GRCh37:
- Chr3:139067095
- GRCh38:
- Chr3:139348253
| MRPS22 | D144Y, D145Y, D104Y | Hypotonia with lactic acidemia and hyperammonemia | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr3:139074588
- GRCh38:
- Chr3:139355746
| MRPS22 | Q315*, Q274*, Q314* | Hypotonia with lactic acidemia and hyperammonemia | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr3:139067142-139067143
- GRCh38:
- Chr3:139348300-139348301
| MRPS22 | I120fs, I160fs, I161fs | Hypotonia with lactic acidemia and hyperammonemia | Likely pathogenic
(Oct 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:139075764-139075765
- GRCh38:
- Chr3:139356922-139356923
| MRPS22 | F290fs, F330fs, F331fs | Hypotonia with lactic acidemia and hyperammonemia | Likely pathogenic
(May 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:139069116
- GRCh38:
- Chr3:139350274
| MRPS22 | E159D, E199D, E200D | Hypotonia with lactic acidemia and hyperammonemia | Uncertain significance
(Sep 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:139071625-139071626
- GRCh38:
- Chr3:139352783-139352784
| MRPS22 | D291fs, D251fs, D292fs | Hypotonia with lactic acidemia and hyperammonemia | Pathogenic
(Oct 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:139065865
- GRCh38:
- Chr3:139347023
| MRPS22 | M105I, M65I, M106I | Hypotonia with lactic acidemia and hyperammonemia | Uncertain significance
(Mar 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:139063005
- GRCh38:
- Chr3:139344163
| LOC112903839, MRPS22 | M46T | Hypotonia with lactic acidemia and hyperammonemia | Uncertain significance
(Jan 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:139063034
- GRCh38:
- Chr3:139344192
| MRPS22, LOC112903839 | E56K | Inborn genetic diseases, Hypotonia with lactic acidemia and hyperammonemia | Uncertain significance
(Feb 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:139062932
- GRCh38:
- Chr3:139344090
| LOC112903839, MRPS22 | R22G | Hypotonia with lactic acidemia and hyperammonemia | Uncertain significance
(Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:139071647
- GRCh38:
- Chr3:139352805
| MRPS22 | | Hypotonia with lactic acidemia and hyperammonemia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:139063047
- GRCh38:
- Chr3:139344205
| LOC112903839, MRPS22 | | not provided, Hypotonia with lactic acidemia and hyperammonemia | Conflicting interpretations of pathogenicity
(Sep 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:139075804-139075805
- GRCh38:
- Chr3:139356962-139356963
| MRPS22 | L346fs, L345fs, L305fs | not provided, Hypotonia with lactic acidemia and hyperammonemia | Conflicting interpretations of pathogenicity
(Jun 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:139075818
- GRCh38:
- Chr3:139356976
| MRPS22 | Y349N, Y308N, Y348N | Hypotonia with lactic acidemia and hyperammonemia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:139069902
- GRCh38:
- Chr3:139351060
| MRPS22 | | not provided, Hypotonia with lactic acidemia and hyperammonemia | Uncertain significance
(Jun 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:139069822
- GRCh38:
- Chr3:139350980
| MRPS22 | M218V, M177V, M217V | not provided, Hypotonia with lactic acidemia and hyperammonemia | Uncertain significance
(Dec 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:139066988
- GRCh38:
- Chr3:139348146
| MRPS22 | | not provided, not specified, Hypotonia with lactic acidemia and hyperammonemia
| Conflicting interpretations of pathogenicity
(Aug 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:139065874
- GRCh38:
- Chr3:139347032
| MRPS22 | | not provided, Hypotonia with lactic acidemia and hyperammonemia | Conflicting interpretations of pathogenicity
(Sep 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:139063051
- GRCh38:
- Chr3:139344209
| LOC112903839, MRPS22 | | Hypotonia with lactic acidemia and hyperammonemia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:139062958
- GRCh38:
- Chr3:139344116
| LOC112903839, MRPS22 | | not specified, Hypotonia with lactic acidemia and hyperammonemia | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:139067164
- GRCh38:
- Chr3:139348322
| MRPS22 | R168W, R127W, R167W | not provided, Hypotonia with lactic acidemia and hyperammonemia | Conflicting interpretations of pathogenicity
(Jul 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:139071543
- GRCh38:
- Chr3:139352701
| MRPS22 | R263C, R262C, R222C | Inborn genetic diseases, not provided, Hypotonia with lactic acidemia and hyperammonemia
| Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:139069133
- GRCh38:
- Chr3:139350291
| MRPS22 | T206I, T165I, T205I | not provided, Hypotonia with lactic acidemia and hyperammonemia | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:139074583
- GRCh38:
- Chr3:139355741
| MRPS22 | S313L, S272L, S312L | not provided, Hypotonia with lactic acidemia and hyperammonemia | Conflicting interpretations of pathogenicity
(Oct 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:139071497
- GRCh38:
- Chr3:139352655
| MRPS22 | H247Q, H246Q, H206Q | not provided, Hypotonia with lactic acidemia and hyperammonemia | Benign/Likely benign
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:139062874
- GRCh38:
- Chr3:139344032
| MRPS22 | | not specified, not provided, Hypotonia with lactic acidemia and hyperammonemia
| Conflicting interpretations of pathogenicity
(Dec 30, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:139065830
- GRCh38:
- Chr3:139346988
| MRPS22 | I95L, I54L, I94L | not specified, not provided, Hypotonia with lactic acidemia and hyperammonemia
| Benign
(Oct 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:139065748
- GRCh38:
- Chr3:139346906
| MRPS22 | | not specified, not provided, Hypotonia with lactic acidemia and hyperammonemia
| Benign/Likely benign
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:139069160
- GRCh38:
- Chr3:139350318
| MRPS22 | L215P, L214P, L174P | Hypotonia with lactic acidemia and hyperammonemia | Pathogenic
(Apr 1, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr3:139069025
- GRCh38:
- Chr3:139350183
| MRPS22 | R170H, R129H, R169H | Hypotonia with lactic acidemia and hyperammonemia, Ovarian dysgenesis 7, not provided,
Hypotonia with lactic acidemia and hyperammonemia | Pathogenic/Likely pathogenic
(Apr 13, 2023) | criteria provided, multiple submitters, no conflicts |