U.S. flag

An official website of the United States government

Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 43

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
ChrX:129273849
GRCh38:
ChrX:130139874
AIFM1, RAB33ASevere X-linked mitochondrial encephalomyopathyUncertain significancecriteria provided, single submitter
2.
GRCh37:
ChrX:129270058
GRCh38:
ChrX:130136083
AIFM1, RAB33AV419I, V423I, V84ISevere X-linked mitochondrial encephalomyopathyUncertain significance
(Feb 23, 2023)		criteria provided, single submitter
3.
GRCh37:
ChrX:129264119
GRCh38:
ChrX:130130144
AIFM1, RAB33AS193R, S528R, S532RSevere X-linked mitochondrial encephalomyopathyUncertain significance
(May 25, 2023)		criteria provided, single submitter
4.
GRCh37:
ChrX:129270613
GRCh38:
ChrX:130136638
AIFM1, RAB33ASevere X-linked mitochondrial encephalomyopathyPathogenic
(Mar 1, 2021)		no assertion criteria provided
5.
GRCh37:
ChrX:129281741
GRCh38:
ChrX:130147766
AIFM1, RAB33AD150N, D154Nnot providedUncertain significance
(Feb 5, 2020)		criteria provided, single submitter
6.
GRCh37:
ChrX:129270093-129270095
GRCh38:
ChrX:130136118-130136120
AIFM1, RAB33AG407del, G411del, G72delSevere X-linked mitochondrial encephalomyopathyUncertain significance
(Jul 14, 2021)		criteria provided, single submitter
7.
GRCh37:
ChrX:129290537
GRCh38:
ChrX:130156563
RAB33A, AIFM1Q49HSevere X-linked mitochondrial encephalomyopathy, not providedUncertain significance
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
ChrX:129281567
GRCh38:
ChrX:130147592
AIFM1, RAB33AP165L, P169LCharcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency, not provided,
Severe X-linked mitochondrial encephalomyopathy		Conflicting interpretations of pathogenicity
(Jul 3, 2023)		criteria provided, conflicting interpretations
9.
GRCh37:
ChrX:129299720
GRCh38:
ChrX:130165746
AIFM1, LOC130068679, RAB33Anot provided, Severe X-linked mitochondrial encephalomyopathyConflicting interpretations of pathogenicity
(Feb 1, 2023)		criteria provided, conflicting interpretations
10.
GRCh37:
ChrX:129290436
GRCh38:
ChrX:130156462
AIFM1, RAB33AY83CSevere X-linked mitochondrial encephalomyopathy, Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X
Uncertain significance
(Jan 15, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
ChrX:129281476
GRCh38:
ChrX:130147501
AIFM1, RAB33ACharcot-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
12.
GRCh37:
ChrX:129274596
GRCh38:
ChrX:130140621
AIFM1, RAB33ASevere X-linked mitochondrial encephalomyopathyUncertain significance
(Jan 15, 2018)		criteria provided, single submitter
13.
GRCh37:
ChrX:129273757
GRCh38:
ChrX:130139782
AIFM1, RAB33ASevere X-linked mitochondrial encephalomyopathyUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
14.
GRCh37:
ChrX:129271174
GRCh38:
ChrX:130137199
AIFM1, RAB33ASevere X-linked mitochondrial encephalomyopathy, Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X
Benign
(May 21, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
ChrX:129267381
GRCh38:
ChrX:130133406
AIFM1, RAB33AV113A, V448A, V452ACombined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X, Inborn genetic diseases,
Severe X-linked mitochondrial encephalomyopathy		Uncertain significance
(Aug 26, 2021)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
ChrX:129283453
GRCh38:
ChrX:130149478
AIFM1, RAB33AA110T, A114TCharcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency, Inborn genetic diseases,
Severe X-linked mitochondrial encephalomyopathy		Conflicting interpretations of pathogenicity
(Sep 10, 2022)		criteria provided, conflicting interpretations
17.
GRCh37:
ChrX:129274562
GRCh38:
ChrX:130140587
AIFM1, RAB33AV243L, V239LCharcot-Marie-Tooth disease X-linked recessive 4, Severe X-linked mitochondrial encephalomyopathyConflicting interpretations of pathogenicity
(Dec 10, 2019)		no assertion criteria provided
18.
GRCh37:
ChrX:129271115
GRCh38:
ChrX:130137140
RAB33A, AIFM1G338E, G334ESevere X-linked mitochondrial encephalomyopathyPathogenic
(Dec 10, 2019)		no assertion criteria provided
19.
GRCh37:
ChrX:129272612
GRCh38:
ChrX:130138637
AIFM1, RAB33AG308E, G304ECharcot-Marie-Tooth disease X-linked recessive 4, Severe X-linked mitochondrial encephalomyopathyConflicting interpretations of pathogenicity
(Dec 10, 2019)		no assertion criteria provided
20.
GRCh37:
ChrX:129264022
GRCh38:
ChrX:130130047
AIFM1, RAB33AI561V, I565V, I226VCharcot-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
21.
GRCh37:
ChrX:129270098
GRCh38:
ChrX:130136123
AIFM1, RAB33ASpondyloepimetaphyseal 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
22.
GRCh37:
ChrX:129290514
GRCh38:
ChrX:130156540
AIFM1, RAB33AS57Cnot 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
23.
GRCh37:
ChrX:129264071
GRCh38:
ChrX:130130096
AIFM1, RAB33AInborn genetic diseases, Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X,
not provided, Severe X-linked mitochondrial encephalomyopathy		Benign/Likely benign
(Oct 7, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
ChrX:129267300
GRCh38:
ChrX:130133325
AIFM1, RAB33AQ479R, Q140R, Q475RSevere X-linked mitochondrial encephalomyopathyPathogenic
(Dec 12, 2016)		no assertion criteria provided
25.
GRCh37:
ChrX:129299815
GRCh38:
ChrX:130165841
AIFM1, RAB33Anot provided, Severe X-linked mitochondrial encephalomyopathyConflicting interpretations of pathogenicity
(Mar 1, 2023)		criteria provided, conflicting interpretations
26.
GRCh37:
ChrX:129299795
GRCh38:
ChrX:130165821
RAB33A, AIFM1, LOC130068679Severe X-linked mitochondrial encephalomyopathyBenign
(Jan 13, 2018)		criteria provided, single submitter
27.
GRCh37:
ChrX:129299770
GRCh38:
ChrX:130165796
AIFM1, LOC130068679, RAB33ASevere X-linked mitochondrial encephalomyopathyUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
28.
GRCh37:
ChrX:129299559
GRCh38:
ChrX:130165585
RAB33A, AIFM1, LOC130068679Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth disease,
not provided, Severe X-linked mitochondrial encephalomyopathy		Benign/Likely benign
(Jun 1, 2023)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
ChrX:129283531
GRCh38:
ChrX:130149556
AIFM1, RAB33AM88V, M84VCombined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X, Severe X-linked mitochondrial encephalomyopathy
Benign
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
ChrX:129283520
GRCh38:
ChrX:130149545
RAB33A, AIFM1Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency, Deafness, X-linked 5,
Charcot-Marie-Tooth disease, Spondyloepimetaphyseal dysplasia, Bieganski type, not provided,
Severe X-linked mitochondrial encephalomyopathy		Benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
ChrX:129281835
GRCh38:
ChrX:130147860
AIFM1, RAB33Anot provided, Severe X-linked mitochondrial encephalomyopathy, Charcot-Marie-Tooth Neuropathy X,
Combined oxidative phosphorylation deficiency		Benign/Likely benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
ChrX:129279559
GRCh38:
ChrX:130145584
AIFM1, RAB33ACharcot-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
33.
GRCh37:
ChrX:129264068
GRCh38:
ChrX:130130093
AIFM1, RAB33AInborn genetic diseases, Severe X-linked mitochondrial encephalomyopathyConflicting interpretations of pathogenicity
(Jul 11, 2019)		criteria provided, conflicting interpretations
34.
GRCh37:
ChrX:129263483
GRCh38:
ChrX:130129508
AIFM1, RAB33ASevere X-linked mitochondrial encephalomyopathyUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
35.
GRCh37:
ChrX:129281749
GRCh38:
ChrX:130147774
AIFM1, RAB33AR151Q, R147QSevere X-linked mitochondrial encephalomyopathy, Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency,
not provided		Conflicting interpretations of pathogenicity
(Aug 28, 2021)		criteria provided, conflicting interpretations
36.
GRCh37:
ChrX:129271081
GRCh38:
ChrX:130137106
RAB33A, AIFM1Inborn genetic diseases, Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency,
not specified, Severe X-linked mitochondrial encephalomyopathy, Charcot-Marie-Tooth disease,
not provided		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
ChrX:129299528
GRCh38:
ChrX:130165554
AIFM1, LOC130068679, RAB33AP35SSevere 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
38.
GRCh37:
ChrX:129263541
GRCh38:
ChrX:130129566
AIFM1, RAB33ASevere 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
39.
GRCh37:
ChrX:129267320
GRCh38:
ChrX:130133345
AIFM1, RAB33ACombined 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
40.
GRCh37:
ChrX:129267407
GRCh38:
ChrX:130133432
AIFM1, RAB33ACombined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease,
Inborn genetic diseases, not specified, not provided,
Severe X-linked mitochondrial encephalomyopathy		Benign/Likely benign
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
ChrX:129271132
GRCh38:
ChrX:130137157
RAB33A, AIFM1Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease,
not specified, not provided, Severe X-linked mitochondrial encephalomyopathy
Benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
ChrX:129272617
GRCh38:
ChrX:130138642
AIFM1, RAB33ACombined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease,
not specified, not provided, Severe X-linked mitochondrial encephalomyopathy
Benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
ChrX:129281468-129281470
GRCh38:
ChrX:130147493-130147495
AIFM1, RAB33AR201del, R197delSevere X-linked mitochondrial encephalomyopathyPathogenic
(Apr 9, 2010)		no assertion criteria provided
Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination