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Links from MedGen

Items: 33

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:15133094-15164078
PMP22Charcot-Marie-Tooth disease, type IAPathogenic
(Oct 14, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr17:15162465
GRCh38:
Chr17:15259148
PMP22C42RCharcot-Marie-Tooth disease, type IAUncertain significance
(Feb 23, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr17:15162487
GRCh38:
Chr17:15259170
PMP22H34QCharcot-Marie-Tooth disease, type IAUncertain significancecriteria provided, single submitter
4.
GRCh37:
Chr17:14096089-15492591
CDRT15, CDRT4, COX10, FBXW10B, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4Charcot-Marie-Tooth disease, type IAPathogenic
(Nov 25, 2021)
criteria provided, single submitter
5.
GRCh37:
Chr17:15134376
GRCh38:
Chr17:15231059
PMP22A114VCharcot-Marie-Tooth disease, type IALikely pathogenicno assertion criteria provided
6.
GRCh37:
Chr17:15229779-15265326
TEKT3Charcot-Marie-Tooth disease, type IAnot providedno assertion provided
7.
GRCh37:
Chr17:15036412-15036413
GRCh38:
Chr17:15133095-15133096
PMP22Charcot-Marie-Tooth disease, type IAPathogenic
(Jan 26, 2020)
criteria provided, single submitter
8.
GRCh37:
Chr17:15164010
GRCh38:
Chr17:15260693
PMP22H12RCharcot-Marie-Tooth disease, type ILikely pathogenic
(Aug 13, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr17:15134325
GRCh38:
Chr17:15231008
PMP22S131CCharcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease, type IA
Conflicting interpretations of pathogenicity
(Aug 23, 2023)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr17:15168570
GRCh38:
Chr17:15265253
PMP22Guillain-Barre syndrome, familial, Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type IA,
Roussy-Lévy syndrome, Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 1E
Uncertain significance
(Dec 14, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr17:14105874-15611546
Charcot-Marie-Tooth disease, type IAPathogenic
(Nov 1, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr17:14104012-15422557
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4Charcot-Marie-Tooth disease, type IAPathogenic
(Nov 1, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr17:14063251-15449627
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4Charcot-Marie-Tooth disease, type IAPathogenic
(Nov 1, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr17:14087933-15500645
CDRT15, CDRT4, COX10, FBXW10B, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4Charcot-Marie-Tooth disease, type IAPathogenic
(Jun 26, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr17:15134355
GRCh38:
Chr17:15231038
PMP22H121Rnot providedUncertain significance
(Feb 16, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr17:15142852
GRCh38:
Chr17:15239535
PMP22C85WGuillain-Barre syndrome, familial, Roussy-Lévy syndrome, Hereditary liability to pressure palsies,
Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease, type IA, Dejerine-Sottas disease,
not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease, type I
Uncertain significance
(Jun 13, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr17:15134239
GRCh38:
Chr17:15230922
PMP22E160KCharcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1E, Guillain-Barre syndrome, familial,
Roussy-Lévy syndrome, Dejerine-Sottas disease, Charcot-Marie-Tooth disease, type IA,
Hereditary liability to pressure palsies
Uncertain significance
(Aug 26, 2021)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr17:15134321
GRCh38:
Chr17:15231004
PMP22Guillain-Barre syndrome, familial, Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease, type IA,
Hereditary liability to pressure palsies, Roussy-Lévy syndrome, Dejerine-Sottas disease,
not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease, type I,
not specified
Benign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr17:15162516
GRCh38:
Chr17:15259199
PMP22Inborn genetic diseases, Charcot-Marie-Tooth disease, type I, Guillain-Barre syndrome, familial,
Charcot-Marie-Tooth disease type 1E, Hereditary liability to pressure palsies, Roussy-Lévy syndrome,
Dejerine-Sottas disease, Charcot-Marie-Tooth disease, type IA, Charcot-Marie-Tooth disease,
not provided, Hereditary liability to pressure palsies ...see more
Benign/Likely benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr17:15134283
GRCh38:
Chr17:15230966
PMP22L145fsInborn genetic diseases, Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease, type IA,
Roussy-Lévy syndrome
Pathogenic/Likely pathogenic
(Jun 17, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr17:15142872
GRCh38:
Chr17:15239555
PMP22S79TCharcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease, type IALikely pathogenic
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr17:15142922
GRCh38:
Chr17:15239605
PMP22L62RGuillain-Barre syndrome, familial, Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease type 1E,
Charcot-Marie-Tooth disease, type IA, Roussy-Lévy syndrome, Dejerine-Sottas disease,
Charcot-Marie-Tooth disease, type I, not specified, not provided
Uncertain significance
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
23.
PMP22Charcot-Marie-Tooth disease, type IAPathogenic
(Mar 6, 2014)
no assertion criteria provided
24.
GRCh37:
Chr17:15142826
GRCh38:
Chr17:15239509
PMP22G94fsCharcot-Marie-Tooth disease, type I, not providedPathogenic
(Mar 18, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
ChrMT:9185
GRCh38:
ChrMT:9185
MT-ATP6Mitochondrial diseasePathogenic
(Jun 30, 2022)
reviewed by expert panel
FDA Recognized Database
26.
GRCh37:
Chr17:15163980
GRCh38:
Chr17:15260663
PMP22S22FCharcot-Marie-Tooth disease, type IA, Hereditary liability to pressure palsiesPathogenic
(Sep 1, 2004)
no assertion criteria provided
27.
GRCh37:
Chr17:15142908
GRCh38:
Chr17:15239591
PMP22A67TCharcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type IALikely pathogenic
(Sep 27, 2021)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr17:15142825-15142826
GRCh38:
Chr17:15239508-15239509
PMP22R95fsCharcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease, type IA
Pathogenic/Likely pathogenic
(Jan 14, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr17:15142892
GRCh38:
Chr17:15239575
PMP22S72LInborn genetic diseases, Charcot-Marie-Tooth disease, type I, not provided,
Charcot-Marie-Tooth disease, type IA
Pathogenic
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr17:15134364
GRCh38:
Chr17:15231047
PMP22T118MCharcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I, not specified,
not provided, Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type IA,
Tip-toe gait
Conflicting interpretations of pathogenicity
(Aug 22, 2023)
criteria provided, conflicting interpretations
31.
GRCh37:
Chr17:15142871
GRCh38:
Chr17:15239554
PMP22S79CCharcot-Marie-Tooth disease, type IPathogenic
(Aug 27, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr17:15163998
GRCh38:
Chr17:15260681
PMP22L16PCharcot-Marie-Tooth disease, type IPathogenic
(Aug 31, 2021)
criteria provided, single submitter
33.
PMP22Roussy-Lévy syndrome, Charcot-Marie-Tooth disease, type IAPathogenic
(Oct 18, 2012)
no assertion criteria provided
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