| - GRCh37:
- Chr5:154292535
- GRCh38:
- Chr5:154912975
| GEMIN5 | A639V, A640V | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr5:154281030
- GRCh38:
- Chr5:154901470
| GEMIN5 | W961*, W960* | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr5:154278845
- GRCh38:
- Chr5:154899285
| GEMIN5 | R1013W, R1014W | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | Uncertain significance
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:154292475
- GRCh38:
- Chr5:154912915
| GEMIN5 | Y659F, Y660F | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | Uncertain significance
(Jan 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:154285007
- GRCh38:
- Chr5:154905447
| GEMIN5 | V808F, V809F | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | Uncertain significance
(Jan 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:154305423
- GRCh38:
- Chr5:154925863
| GEMIN5 | A430V, A431V | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | Uncertain significance
(Nov 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:154267800-154267801
- GRCh38:
- Chr5:154888240-154888241
| GEMIN5 | Y1498*, Y1499* | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | Uncertain significance
(May 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:154291434-154291435
- GRCh38:
- Chr5:154911874-154911875
| GEMIN5 | | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | Uncertain significance
(Sep 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:154271089-154271090
- GRCh38:
- Chr5:154891529-154891530
| GEMIN5 | E1324fs, E1325fs | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | Likely pathogenic
(Jan 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:154305448
- GRCh38:
- Chr5:154925888
| GEMIN5 | Q422*, Q423* | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | Likely pathogenic
(May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:154267919
- GRCh38:
- Chr5:154888359
| GEMIN5 | V1459M, V1460M | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr5:154278173-154278174
- GRCh38:
- Chr5:154898613-154898614
| GEMIN5 | V1057fs, V1058fs | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, not provided | Conflicting interpretations of pathogenicity
(Aug 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:154308148
- GRCh38:
- Chr5:154928588
| GEMIN5 | L284F, L285F | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, not provided | Uncertain significance
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:154278142
- GRCh38:
- Chr5:154898582
| GEMIN5 | L1068P, L1067P | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | Pathogenic
(May 27, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr5:154280915
- GRCh38:
- Chr5:154901355
| GEMIN5 | S999P | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | Pathogenic
(May 27, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr5:154271207
- GRCh38:
- Chr5:154891647
| GEMIN5 | Y1286N, Y1285N | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | Pathogenic
(May 27, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr5:154316630
- GRCh38:
- Chr5:154937070
| GEMIN5 | W94* | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | Pathogenic
(May 27, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr5:154297562
- GRCh38:
- Chr5:154918002
| GEMIN5 | Y534*, Y533* | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | Pathogenic
(May 27, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr5:154275893
- GRCh38:
- Chr5:154896333
| GEMIN5 | L1119S, L1118S | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | Pathogenic
(May 27, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr5:154282227
- GRCh38:
- Chr5:154902667
| GEMIN5 | H913R, H912R | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | Pathogenic
(May 27, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr5:154270887
- GRCh38:
- Chr5:154891327
| GEMIN5 | | not provided, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | Benign/Likely benign
(May 17, 2022) | criteria provided, multiple submitters, no conflicts |