| - GRCh37:
- Chr18:55272390
- GRCh38:
- Chr18:57605158
| NARS1 | | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | Uncertain significance
(Nov 16, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr18:55274861
- GRCh38:
- Chr18:57607629
| NARS1 | E206K | not provided, Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | Conflicting interpretations of pathogenicity
(May 26, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:55273928
- GRCh38:
- Chr18:57606696
| NARS1 | R353W | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | Uncertain significance
(Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:55273945
- GRCh38:
- Chr18:57606713
| NARS1 | F347S | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | Uncertain significance
(Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:55283122
- GRCh38:
- Chr18:57615890
| NARS1 | K60T | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr18:55274764
- GRCh38:
- Chr18:57607532
| NARS1 | R238Q | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr18:55268967
- GRCh38:
- Chr18:57601735
| NARS1 | R522* | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | Pathogenic/Likely pathogenic
(May 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:55274831
- GRCh38:
- Chr18:57607599
| NARS1 | A216S | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | Uncertain significance
(May 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:55274381
- GRCh38:
- Chr18:57607149
| NARS1 | R329Q | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | Likely pathogenic
(Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:55274801
- GRCh38:
- Chr18:57607569
| NARS1 | V226L | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | Likely pathogenic
(Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:55270051
- GRCh38:
- Chr18:57602819
| NARS1 | T459I | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, not provided | Uncertain significance
(May 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:55270163
- GRCh38:
- Chr18:57602931
| NARS1 | A422T | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | Uncertain significance
(May 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:55273936
- GRCh38:
- Chr18:57606704
| NARS1 | L350P | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | Uncertain significance
(May 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:55280861
- GRCh38:
- Chr18:57613629
| NARS1 | G132C | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | Uncertain significance
(May 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:55283123
- GRCh38:
- Chr18:57615891
| NARS1 | K60E | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, not provided | Uncertain significance
(Oct 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:55287844
- GRCh38:
- Chr18:57620612
| NARS1 | T17M | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | Likely pathogenic
(May 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:55287862
- GRCh38:
- Chr18:57620630
| NARS1 | R11P | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | Uncertain significance
(May 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:55268898
- GRCh38:
- Chr18:57601666
| NARS1 | R545C | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | Likely pathogenic
(Jun 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:55283097-55283098
- GRCh38:
- Chr18:57615865-57615866
| NARS1 | M69fs | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | Pathogenic
(Nov 18, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr18:55273918
- GRCh38:
- Chr18:57606686
| NARS1 | D356A | Neurodevelopmental disorder, See cases, Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities,
not provided | Conflicting interpretations of pathogenicity
(Apr 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:55268931
- GRCh38:
- Chr18:57601699
| NARS1 | R534* | Developmental disorder, Neurodevelopmental disorder, not provided,
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | Pathogenic
(Nov 7, 2022) | criteria provided, multiple submitters, no conflicts |