| - GRCh37:
- ChrX:129279527
- GRCh38:
- ChrX:130145552
| AIFM1, RAB33A | P204L, P208L | Charcot-Marie-Tooth disease X-linked recessive 4 | Uncertain significance
(Jan 6, 2016) | no assertion criteria provided |
| - GRCh37:
- ChrX:129281741
- GRCh38:
- ChrX:130147766
| AIFM1, RAB33A | D150N, D154N | not provided | Uncertain significance
(Feb 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:129274513
- GRCh38:
- ChrX:130140538
| AIFM1, RAB33A | A255G, A259G | Charcot-Marie-Tooth disease X-linked recessive 4 | Likely pathogenic
(Jul 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:129283460-129283465
- GRCh38:
- ChrX:130149485-130149490
| AIFM1, RAB33A | | Charcot-Marie-Tooth disease X-linked recessive 4 | Uncertain significance
(Jul 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:129281476
- GRCh38:
- ChrX:130147501
| AIFM1, RAB33A | | Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency, Severe X-linked mitochondrial encephalomyopathy,
Severe X-linked mitochondrial encephalomyopathy, Charcot-Marie-Tooth disease X-linked recessive 4, Spondyloepimetaphyseal dysplasia, Bieganski type,
Deafness, X-linked 5 | Benign/Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:129274562
- GRCh38:
- ChrX:130140587
| AIFM1, RAB33A | V243L, V239L | Charcot-Marie-Tooth disease X-linked recessive 4, Severe X-linked mitochondrial encephalomyopathy | Conflicting interpretations of pathogenicity
(Dec 10, 2019) | no assertion criteria provided |
| - GRCh37:
- ChrX:129281779
- GRCh38:
- ChrX:130147804
| AIFM1, RAB33A | T141I, T137I | Charcot-Marie-Tooth disease X-linked recessive 4 | Pathogenic
(Dec 10, 2019) | no assertion criteria provided |
| - GRCh37:
- ChrX:129273844
- GRCh38:
- ChrX:130139869
| AIFM1, RAB33A | G262S, G258S | Charcot-Marie-Tooth disease X-linked recessive 4 | Pathogenic
(Dec 10, 2019) | no assertion criteria provided |
| - GRCh37:
- ChrX:129272612
- GRCh38:
- ChrX:130138637
| AIFM1, RAB33A | G308E, G304E | Charcot-Marie-Tooth disease X-linked recessive 4, Severe X-linked mitochondrial encephalomyopathy | Conflicting interpretations of pathogenicity
(Dec 10, 2019) | no assertion criteria provided |
| - GRCh37:
- ChrX:129264022
- GRCh38:
- ChrX:130130047
| AIFM1, RAB33A | I561V, I565V, I226V | Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth disease X-linked recessive 4,
Spondyloepimetaphyseal dysplasia, Bieganski type, Deafness, X-linked 5, Severe X-linked mitochondrial encephalomyopathy
| Uncertain significance
(Apr 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:129271122
- GRCh38:
- ChrX:130137147
| AIFM1, RAB33A | E336K, E332K | not provided, Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X,
Charcot-Marie-Tooth disease X-linked recessive 4 | Conflicting interpretations of pathogenicity
(Sep 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:129270098
- GRCh38:
- ChrX:130136123
| AIFM1, RAB33A | | Spondyloepimetaphyseal dysplasia, Bieganski type, Severe X-linked mitochondrial encephalomyopathy, Charcot-Marie-Tooth disease X-linked recessive 4,
Deafness, X-linked 5, Inborn genetic diseases, not provided,
Severe X-linked mitochondrial encephalomyopathy, Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency
| Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:129290514
- GRCh38:
- ChrX:130156540
| AIFM1, RAB33A | S57C | not provided, Inborn genetic diseases, Combined oxidative phosphorylation deficiency,
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked recessive 4, Deafness, X-linked 5,
Severe X-linked mitochondrial encephalomyopathy | Conflicting interpretations of pathogenicity
(Sep 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:129271109
- GRCh38:
- ChrX:130137134
| AIFM1, RAB33A | M340T, M1T, M336T | not provided, Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency,
Foot dorsiflexor weakness, Distal muscle weakness, Sensorineural hearing impairment,
Pes planus | Pathogenic/Likely pathogenic
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:129264069
- GRCh38:
- ChrX:130130094
| RAB33A, AIFM1 | A549V, A545V, A210V | not provided, Charcot-Marie-Tooth disease X-linked recessive 4, Spondyloepimetaphyseal dysplasia, Bieganski type
| Conflicting interpretations of pathogenicity
(May 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:129279559
- GRCh38:
- ChrX:130145584
| AIFM1, RAB33A | | Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency, not specified,
Spondyloepimetaphyseal dysplasia, Bieganski type, Severe X-linked mitochondrial encephalomyopathy, Charcot-Marie-Tooth disease X-linked recessive 4,
Deafness, X-linked 5, Charcot-Marie-Tooth disease, not provided,
Severe X-linked mitochondrial encephalomyopathy | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:129267348
- GRCh38:
- ChrX:130133373
| AIFM1, RAB33A | R459I, R463I, R124I | not provided, Charcot-Marie-Tooth disease X-linked recessive 4, Combined oxidative phosphorylation deficiency,
Charcot-Marie-Tooth Neuropathy X | Conflicting interpretations of pathogenicity
(Sep 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:129299528
- GRCh38:
- ChrX:130165554
| AIFM1, LOC130068679, RAB33A | P35S | Severe X-linked mitochondrial encephalomyopathy, Charcot-Marie-Tooth disease X-linked recessive 4, Deafness, X-linked 5,
Spondyloepimetaphyseal dysplasia, Bieganski type, Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X,
not specified, Severe X-linked mitochondrial encephalomyopathy | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:129263541
- GRCh38:
- ChrX:130129566
| AIFM1, RAB33A | | Severe X-linked mitochondrial encephalomyopathy, Charcot-Marie-Tooth disease X-linked recessive 4, Deafness, X-linked 5,
Spondyloepimetaphyseal dysplasia, Bieganski type, Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X,
Inborn genetic diseases, Charcot-Marie-Tooth disease, not specified,
Severe X-linked mitochondrial encephalomyopathy | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:129265745
- GRCh38:
- ChrX:130131770
| AIFM1, RAB33A | E493V, E154V, E489V | Charcot-Marie-Tooth disease X-linked recessive 4 | Conflicting interpretations of pathogenicity
(Jan 6, 2016) | no assertion criteria provided |