| - GRCh37:
- Chr22:24109541-24110061
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108194-24108482
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108457
- GRCh38:
- Chr22:23766270
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Likely benign
(Dec 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109719
- GRCh38:
- Chr22:23767532
| CHCHD10 | A35T | Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
| Uncertain significance
(Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109790
- GRCh38:
- Chr22:23767603
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Likely benign
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109688
- GRCh38:
- Chr22:23767501
| CHCHD10 | M45K | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Likely benign
(Apr 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108300
- GRCh38:
- Chr22:23766113
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Likely benign
(Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109774
- GRCh38:
- Chr22:23767587
| CHCHD10 | | Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Lower motor neuron syndrome with late-adult onset
| Likely benign
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109661
- GRCh38:
- Chr22:23767474
| CHCHD10 | G54E | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
| Uncertain significance
(Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108367
- GRCh38:
- Chr22:23766180
| CHCHD10 | | Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Lower motor neuron syndrome with late-adult onset
| Likely benign
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108393
- GRCh38:
- Chr22:23766206
| CHCHD10 | D111N, D118N | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108298
- GRCh38:
- Chr22:23766111
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Likely benign
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109615
- GRCh38:
- Chr22:23767428
| CHCHD10 | | Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Lower motor neuron syndrome with late-adult onset
| Likely benign
(Feb 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108329-24108330
- GRCh38:
- Chr22:23766142-23766143
| CHCHD10 | C132fs, C139fs | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
| Uncertain significance
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109755
- GRCh38:
- Chr22:23767568
| CHCHD10 | P23T | Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2,
Inborn genetic diseases | Uncertain significance
(Jun 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:24109725
- GRCh38:
- Chr22:23767538
| CHCHD10 | A33P | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109693
- GRCh38:
- Chr22:23767506
| CHCHD10 | | Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Lower motor neuron syndrome with late-adult onset
| Likely benign
(Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24110004
- GRCh38:
- Chr22:23767817
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Likely benign
(Jan 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109550-24109551
- GRCh38:
- Chr22:23767363-23767364
| CHCHD10 | | Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
| Uncertain significance
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109578
- GRCh38:
- Chr22:23767391
| CHCHD10 | Q82* | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108473
- GRCh38:
- Chr22:23766286
| CHCHD10 | L91Q | Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
| Uncertain significance
(Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108411
- GRCh38:
- Chr22:23766224
| CHCHD10 | E105K, E112K | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109551
- GRCh38:
- Chr22:23767364
| CHCHD10 | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
| Likely benign
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108363
- GRCh38:
- Chr22:23766176
| CHCHD10 | | Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
| Likely benign
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108370
- GRCh38:
- Chr22:23766183
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Likely benign
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24110012
- GRCh38:
- Chr22:23767825
| CHCHD10 | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108329
- GRCh38:
- Chr22:23766142
| CHCHD10 | C139Y, C132Y | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Jun 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109665
- GRCh38:
- Chr22:23767478
| CHCHD10 | A53S | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Dec 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108365
- GRCh38:
- Chr22:23766178
| CHCHD10 | S120F, S127F | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108451
- GRCh38:
- Chr22:23766264
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109738
- GRCh38:
- Chr22:23767551
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Likely benign
(Jun 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109601
- GRCh38:
- Chr22:23767414
| CHCHD10 | S74N | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
| Uncertain significance
(Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108322
- GRCh38:
- Chr22:23766135
| CHCHD10 | Y134*, Y141* | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
| Uncertain significance
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108417
- GRCh38:
- Chr22:23766230
| CHCHD10 | A103T, A110T | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Oct 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24110046
- GRCh38:
- Chr22:23767859
| CHCHD10 | R6S | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
| Uncertain significance
(Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109588
- GRCh38:
- Chr22:23767401
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Likely benign
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109779
- GRCh38:
- Chr22:23767592
| CHCHD10 | R15C | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Jan 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24110038
- GRCh38:
- Chr22:23767851
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Likely benign
(Dec 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109554
- GRCh38:
- Chr22:23767367
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
| Likely benign
(Oct 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109690
- GRCh38:
- Chr22:23767503
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Likely benign
(Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108476
- GRCh38:
- Chr22:23766289
| CHCHD10 | A90V | Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
| Likely benign
(Oct 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109765
- GRCh38:
- Chr22:23767578
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
| Likely benign
(Oct 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108230
- GRCh38:
- Chr22:23766043
| CHCHD10 | | Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
| Likely benign
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108225
- GRCh38:
- Chr22:23766038
| CHCHD10 | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
| Likely benign
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108227
- GRCh38:
- Chr22:23766040
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Likely benign
(Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108304
- GRCh38:
- Chr22:23766117
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Likely benign
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108232
- GRCh38:
- Chr22:23766045
| CHCHD10 | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
| Likely benign
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108469
- GRCh38:
- Chr22:23766282
| CHCHD10 | | Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
| Likely benign
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109544
- GRCh38:
- Chr22:23767357
| CHCHD10 | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
| Likely benign
(Mar 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109706
- GRCh38:
- Chr22:23767519
| CHCHD10 | S39L | Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
| Uncertain significance
(Oct 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109716
- GRCh38:
- Chr22:23767529
| CHCHD10 | P36S | CHCHD10-related condition, Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2,
Autosomal dominant mitochondrial myopathy with exercise intolerance | Uncertain significance
(Jun 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:24109769
- GRCh38:
- Chr22:23767582
| CHCHD10 | A18V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
| Uncertain significance
(Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24110024
- GRCh38:
- Chr22:23767837
| CHCHD10 | A13V | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108359
- GRCh38:
- Chr22:23766172
| CHCHD10 | C129F, C122F | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108437
- GRCh38:
- Chr22:23766250
| CHCHD10 | P103R, P96R | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
| Uncertain significance
(Sep 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109777-24109778
- GRCh38:
- Chr22:23767590-23767591
| CHCHD10 | R15L | Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Lower motor neuron syndrome with late-adult onset
| Pathogenic
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108316
- GRCh38:
- Chr22:23766129
| CHCHD10 | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
| Uncertain significance
(Oct 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109785
- GRCh38:
- Chr22:23767598
| CHCHD10 | | CHCHD10-related condition, Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2,
Autosomal dominant mitochondrial myopathy with exercise intolerance | Uncertain significance
(Sep 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:24108390
- GRCh38:
- Chr22:23766203
| CHCHD10 | C119R, C112R | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108465
- GRCh38:
- Chr22:23766278
| CHCHD10 | Q94E | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Jan 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109713
- GRCh38:
- Chr22:23767526
| CHCHD10 | A37T | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108441
- GRCh38:
- Chr22:23766254
| CHCHD10 | Q102*, Q95* | Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
| Uncertain significance
(Mar 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108401
- GRCh38:
- Chr22:23766214
| CHCHD10 | Q108P, Q115P | Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2,
Inborn genetic diseases | Uncertain significance
(Jul 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:24109743
- GRCh38:
- Chr22:23767556
| CHCHD10 | P27S | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Mar 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108199
- GRCh38:
- Chr22:23766012
| CHCHD10 | P142T, P149T | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
| Uncertain significance
(Oct 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108335
- GRCh38:
- Chr22:23766148
| CHCHD10 | K137R, K130R | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
| Uncertain significance
(Nov 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24110052
- GRCh38:
- Chr22:23767865
| CHCHD10 | G4R | Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2,
not provided | Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:24108416
- GRCh38:
- Chr22:23766229
| CHCHD10 | A103V, A110V | Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Lower motor neuron syndrome with late-adult onset
| Uncertain significance
(Dec 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108374
- GRCh38:
- Chr22:23766187
| CHCHD10 | S117N, S124N | Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
| Uncertain significance
(Nov 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109611
- GRCh38:
- Chr22:23767424
| CHCHD10 | G71R | Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2,
not provided | Uncertain significance
(Mar 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:24108288
- GRCh38:
- Chr22:23766101
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2,
not provided | Benign
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:24110053
- GRCh38:
- Chr22:23767866
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
| Likely benign
(Aug 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109633
- GRCh38:
- Chr22:23767446
| CHCHD10 | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
| Likely benign
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109785
- GRCh38:
- Chr22:23767598
| CHCHD10 | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
| Likely benign
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108418
- GRCh38:
- Chr22:23766231
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Likely benign
(Nov 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109788
- GRCh38:
- Chr22:23767601
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Likely benign
(Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108467
- GRCh38:
- Chr22:23766280
| CHCHD10 | P93L | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance,
Inborn genetic diseases | Likely benign
(Apr 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:24109654
- GRCh38:
- Chr22:23767467
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Likely benign
(Mar 12, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108352
- GRCh38:
- Chr22:23766165
| CHCHD10 | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Likely benign
(Mar 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109785
- GRCh38:
- Chr22:23767598
| CHCHD10 | | Inborn genetic diseases, Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance,
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | Conflicting interpretations of pathogenicity
(Aug 6, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:24108466
- GRCh38:
- Chr22:23766279
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Likely benign
(Feb 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108422
- GRCh38:
- Chr22:23766235
| CHCHD10 | P101L, P108L | Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Lower motor neuron syndrome with late-adult onset
| Uncertain significance
(Sep 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109782
- GRCh38:
- Chr22:23767595
| CHCHD10 | | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Feb 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109541-24110081
| CHCHD10 | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
| Uncertain significance
(Mar 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109767
- GRCh38:
- Chr22:23767580
| CHCHD10 | P19S | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108461
- GRCh38:
- Chr22:23766274
| CHCHD10 | A95D, A88D | Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
| Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108314
- GRCh38:
- Chr22:23766127
| CHCHD10 | | Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Lower motor neuron syndrome with late-adult onset
| Uncertain significance
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109587
- GRCh38:
- Chr22:23767400
| CHCHD10 | E79K | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24110054
- GRCh38:
- Chr22:23767867
| CHCHD10 | R3P | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Oct 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24110060
- GRCh38:
- Chr22:23767873
| CHCHD10 | M1R | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
| Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108216
- GRCh38:
- Chr22:23766029
| CHCHD10 | | Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Lower motor neuron syndrome with late-adult onset
| Uncertain significance
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108370
- GRCh38:
- Chr22:23766183
| CHCHD10 | D118E, D125E | Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
| Uncertain significance
(Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109619
- GRCh38:
- Chr22:23767432
| CHCHD10 | A68V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
| Uncertain significance
(Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108462
- GRCh38:
- Chr22:23766275
| CHCHD10 | A95S, A88S | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
| Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109752
- GRCh38:
- Chr22:23767565
| CHCHD10 | P24S | Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
| Uncertain significance
(Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24110046
- GRCh38:
- Chr22:23767859
| CHCHD10 | R6G | Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
| Uncertain significance
(Nov 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24110054
- GRCh38:
- Chr22:23767867
| CHCHD10 | R3L | Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
| Uncertain significance
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109778
- GRCh38:
- Chr22:23767591
| CHCHD10 | R15H | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24109622
- GRCh38:
- Chr22:23767435
| CHCHD10 | S67N | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
| Uncertain significance
(Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:24108342
- GRCh38:
- Chr22:23766155
| CHCHD10 | A128S, A135S | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
| Uncertain significance
(Jun 4, 2022) | criteria provided, single submitter |