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Links from medgen

Items: 9

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr8:24813234
GRCh38:
Chr8:24955720
NEFLE266QCharcot-Marie-Tooth disease, dominant intermediate GUncertain significance
(May 30, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr8:24813081-24813082
GRCh38:
Chr8:24955567-24955568
NEFLCharcot-Marie-Tooth disease, dominant intermediate GUncertain significance
(Mar 8, 2021)
criteria provided, single submitter
3.
GRCh37:
Chr8:24813612
GRCh38:
Chr8:24956098
NEFLE140KCharcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease, dominant intermediate GUncertain significance
(Feb 24, 2022)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr8:24813237
GRCh38:
Chr8:24955723
NEFLY265Dnot provided, Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E,
Charcot-Marie-Tooth disease, dominant intermediate G, Inborn genetic diseases, not specified,
Charcot-Marie-Tooth disease type 2E
Uncertain significance
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr8:24813884
GRCh38:
Chr8:24956370
NEFLS49FCharcot-Marie-Tooth disease, dominant intermediate G, not providedUncertain significance
(Feb 28, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr8:24813044
GRCh38:
Chr8:24955530
NEFLL329Pnot provided, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F,
Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease, dominant intermediate G
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr8:24810345
GRCh38:
Chr8:24952832
NEFLQ537RCharcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease, dominant intermediate G,
Inborn genetic diseases, not specified, Charcot-Marie-Tooth disease type 2E,
not provided
Conflicting interpretations of pathogenicity
(Feb 1, 2023)
criteria provided, conflicting interpretations
8.
GRCh37:
Chr8:24811293
GRCh38:
Chr8:24953779
NEFLE396KCharcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 2E
Pathogenic
(Jul 25, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr8:24813737
GRCh38:
Chr8:24956223
NEFLN98SCharcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease, dominant intermediate G,
Sensorineural hearing impairment, Developmental disorder, Charcot-Marie-Tooth disease,
not provided, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F
Pathogenic/Likely pathogenic
(Aug 14, 2023)
criteria provided, multiple submitters, no conflicts
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