| - GRCh37:
- Chr8:75276429
- GRCh38:
- Chr8:74364194
| GDAP1 | S193P, S234P, S244P, S302P | Charcot-Marie-Tooth disease axonal type 2K | Uncertain significance
(Aug 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:75276241
- GRCh38:
- Chr8:74364006
| GDAP1 | L130P, L171P, L181P, L239P | Charcot-Marie-Tooth disease axonal type 2K | Likely pathogenic
(Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:75276244
- GRCh38:
- Chr8:74364009
| GDAP1 | C131F, C172F, C182F, C240F | Charcot-Marie-Tooth disease axonal type 2K | Uncertain significance
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:75263582
- GRCh38:
- Chr8:74351347
| GDAP1 | N64S | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K | Conflicting interpretations of pathogenicity
(Aug 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:75263585
- GRCh38:
- Chr8:74351350
| GDAP1 | E65G | Charcot-Marie-Tooth disease axonal type 2K | Uncertain significance
(Oct 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:75276522
- GRCh38:
- Chr8:74364287
| GDAP1 | G224R, G265R, G275R, G333R | Charcot-Marie-Tooth disease axonal type 2K | Uncertain significance
(Aug 6, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr8:75272411
- GRCh38:
- Chr8:74360176
| GDAP1 | Y117S, Y49S, Y8S | Charcot-Marie-Tooth disease axonal type 2K | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr8:75272507
- GRCh38:
- Chr8:74360272
| GDAP1 | D81G, D149G, D40G | Charcot-Marie-Tooth disease type 4A | Uncertain significance
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:75263573
- GRCh38:
- Chr8:74351338
| GDAP1 | S61N | Charcot-Marie-Tooth disease axonal type 2K | Uncertain significance
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr8:75263528
- GRCh38:
- Chr8:74351293
| GDAP1 | K47fs | Charcot-Marie-Tooth disease axonal type 2K | Pathogenic
(Jan 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr8:75275196
- GRCh38:
- Chr8:74362961
| GDAP1 | N133S, N143S, N201S, N92S | Charcot-Marie-Tooth disease axonal type 2K | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr8:75275266-75275268
- GRCh38:
- Chr8:74363031-74363033
| GDAP1 | R168del, R117del, R158del, R226del | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K | Conflicting interpretations of pathogenicity
(Jul 20, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:75276442
- GRCh38:
- Chr8:74364207
| GDAP1 | P238L, P306L, P248L, P197L | Charcot-Marie-Tooth disease axonal type 2K | Likely pathogenic
(Sep 26, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr8:75275312
- GRCh38:
- Chr8:74363077
| GDAP1 | | not provided, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive, Charcot-Marie-Tooth disease recessive intermediate A,
Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K | Benign
(Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:75262841
- GRCh38:
- Chr8:74350606
| GDAP1, LOC130000622 | | not provided, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive,
Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease
| Benign
(Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:75276246
- GRCh38:
- Chr8:74364011
| GDAP1 | G241S, G173S, G132S, G183S | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A,
Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive, Inborn genetic diseases
| Uncertain significance
(Feb 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:75276292
- GRCh38:
- Chr8:74364057
| GDAP1 | H256R, H188R, H198R, H147R | Charcot-Marie-Tooth disease type 4A, not provided, Charcot-Marie-Tooth disease axonal type 2K,
Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
| Pathogenic
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:74789216-75279753
- GRCh38:
- Chr8:73876981-74367518
| ELOC, GDAP1, JPH1, LINC01617, LOC126860420, LOC129390012, LOC130000611, LOC130000612, LOC130000613, LOC130000614, LOC130000615, LOC130000616, LOC130000617, LOC130000618, LOC130000619, LOC130000620, LOC130000621, LOC130000622, LY96, TMEM70, UBE2W | | Charcot-Marie-Tooth disease axonal type 2K | Uncertain significance
(Apr 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:75276531
- GRCh38:
- Chr8:74364296
| GDAP1 | A336S, A227S, A278S, A268S | not provided, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease recessive intermediate A,
Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
| Uncertain significance
(Jul 24, 2022) | criteria provided, multiple submitters, no conflicts |
| | | | Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease recessive intermediate A,
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | Pathogenic
(Jul 1, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr8:75272519
- GRCh38:
- Chr8:74360284
| GDAP1 | P153L, P44L, P85L | Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive,
Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease type 4A, Peripheral neuropathy
| Pathogenic/Likely pathogenic
(Feb 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:75274141
- GRCh38:
- Chr8:74361906
| GDAP1 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive, Charcot-Marie-Tooth disease axonal type 2K,
Charcot-Marie-Tooth disease type 4A, not specified, Charcot-Marie-Tooth disease type 4A,
Charcot-Marie-Tooth disease recessive intermediate A, not provided | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:75263707
- GRCh38:
- Chr8:74351472
| GDAP1 | | not provided, Charcot-Marie-Tooth, Intermediate, Inborn genetic diseases,
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A,
Charcot-Marie-Tooth with Vocal Cord Paresis | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:75274214
- GRCh38:
- Chr8:74361979
| GDAP1 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K
| Pathogenic
(Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:75227597
- GRCh38:
- Chr8:74315362
| JPH1 | R213P | Charcot-Marie-Tooth disease axonal type 2K | Benign
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr8:75272434
- GRCh38:
- Chr8:74360199
| GDAP1 | R125*, R16*, R57* | Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease recessive intermediate A,
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive, Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease type 4A,
Charcot-Marie-Tooth disease axonal type 2K, not provided | Pathogenic
(Nov 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:75274190
- GRCh38:
- Chr8:74361955
| GDAP1 | I186V, I118V, I128V, I77V | not provided, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive, Charcot-Marie-Tooth disease axonal type 2K,
Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive,
Inborn genetic diseases, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease recessive intermediate A
| Uncertain significance
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:75276346
- GRCh38:
- Chr8:74364111
| GDAP1 | P274L, P216L, P165L, P206L | Charcot-Marie-Tooth disease axonal type 2K | Pathogenic
(Aug 9, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr8:75272429
- GRCh38:
- Chr8:74360194
| GDAP1 | H123R, H55R, H14R | not provided, Charcot-Marie-Tooth disease type 4A | Pathogenic/Likely pathogenic
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:75272528
- GRCh38:
- Chr8:74360293
| GDAP1 | A156G, A47G, A88G | Charcot-Marie-Tooth disease type 4A | Pathogenic
(Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:75275272
- GRCh38:
- Chr8:74363037
| GDAP1 | R226S, R117S, R168S, R158S | Charcot-Marie-Tooth disease axonal type 2K | Pathogenic
(Oct 1, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr8:75276244
- GRCh38:
- Chr8:74364009
| GDAP1 | C240Y, C131Y, C182Y, C172Y | Charcot-Marie-Tooth disease axonal type 2K | Pathogenic
(Apr 1, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr8:75275286
- GRCh38:
- Chr8:74363051
| GDAP1 | P231L, P122L, P173L, P163L | Inborn genetic diseases, not provided, Charcot-Marie-Tooth disease type 4A
| Pathogenic/Likely pathogenic
(Apr 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:75275246
- GRCh38:
- Chr8:74363011
| GDAP1 | Q218E, Q160E, Q109E, Q150E | Charcot-Marie-Tooth disease axonal type 2K | Pathogenic
(Jan 1, 2008) | no assertion criteria provided |
| - GRCh37:
- Chr8:75276240
- GRCh38:
- Chr8:74364005
| GDAP1 | L239F, L181F, L171F, L130F | GDAP1-Related Disorders, Inborn genetic diseases, not provided,
Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive,
Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A, Polyneuropathy,
Elevated circulating creatine kinase concentration, Elevated circulating alkaline phosphatase concentrationSensory neuropathy,
Peripheral axonal neuropathy, ...see more | Pathogenic/Likely pathogenic
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:75272530
- GRCh38:
- Chr8:74360295
| GDAP1 | T157P, T48P, T89P | Charcot-Marie-Tooth disease type 4A | Pathogenic
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:75272419
- GRCh38:
- Chr8:74360184
| GDAP1 | R120W, R11W, R52W | Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease recessive intermediate A,
Inborn genetic diseases, Charcot-Marie-Tooth disease, not provided,
Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K | Pathogenic
(Aug 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:75276369
- GRCh38:
- Chr8:74364134
| GDAP1 | R282C, R214C, R224C, R173C | Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive, Charcot-Marie-Tooth disease type 4A,
Charcot-Marie-Tooth disease axonal type 2K, not provided, Charcot-Marie-Tooth disease type 4A
| Pathogenic
(May 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:75274121
- GRCh38:
- Chr8:74361886
| GDAP1 | Q163*, Q105*, Q54*, Q95* | Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive, Charcot-Marie-Tooth disease type 4A,
Charcot-Marie-Tooth disease axonal type 2K, not provided, Charcot-Marie-Tooth disease type 4A
| Pathogenic
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:75275175
- GRCh38:
- Chr8:74362940
| GDAP1 | S194*, S126*, S136*, S85* | Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive, Charcot-Marie-Tooth disease type 4A,
Charcot-Marie-Tooth disease axonal type 2K, not provided, Charcot-Marie-Tooth disease type 4A
| Pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |