| - GRCh37:
- Chr9:94830300
- GRCh38:
- Chr9:92068018
| SPTLC1 | T15A, T170A, T48A | Neuropathy, hereditary sensory and autonomic, type 1A | Uncertain significance
(Aug 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94874759
- GRCh38:
- Chr9:92112477
| SPTLC1 | E48G | Neuropathy, hereditary sensory and autonomic, type 1A | Uncertain significance
(Jun 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94809549
- GRCh38:
- Chr9:92047267
| SPTLC1 | R174Q, R207Q, R329Q | Neuropathy, hereditary sensory and autonomic, type 1A | Likely pathogenic
(Oct 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94800558
- GRCh38:
- Chr9:92038276
| SPTLC1 | V287G, V409G, V254G | Neuropathy, hereditary sensory and autonomic, type 1A | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94793440
- GRCh38:
- Chr9:92031158
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94877628
- GRCh38:
- Chr9:92115346
| SPTLC1 | V9I | Neuropathy, hereditary sensory and autonomic, type 1A | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94830366
- GRCh38:
- Chr9:92068084
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94794296
- GRCh38:
- Chr9:92032014
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94794257
- GRCh38:
- Chr9:92031975
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94793950
- GRCh38:
- Chr9:92031668
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94821490
- GRCh38:
- Chr9:92059208
| SPTLC1 | L221I, L66I, L99I | Neuropathy, hereditary sensory and autonomic, type 1A, Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 1
| Uncertain significance
(Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94817760
- GRCh38:
- Chr9:92055478
| SPTLC1 | R236H, R81H, R114H | Neuropathy, hereditary sensory and autonomic, type 1A, Hereditary sensory and autonomic neuropathy type 1 | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94874733
- GRCh38:
- Chr9:92112451
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A, Hereditary sensory and autonomic neuropathy type 1 | Conflicting interpretations of pathogenicity
(Jun 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:94800624
- GRCh38:
- Chr9:92038342
| SPTLC1 | G232E, G265E, G387E | Neuropathy, hereditary sensory and autonomic, type 1A, Hereditary sensory and autonomic neuropathy type 1, Inborn genetic diseases
| Uncertain significance
(May 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94809478
- GRCh38:
- Chr9:92047196
| SPTLC1 | L198F, L231F, L353F | Hereditary sensory and autonomic neuropathy type 1, Neuropathy, hereditary sensory and autonomic, type 1A | Uncertain significance
(Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94809905
- GRCh38:
- Chr9:92047623
| SPTLC1 | I170T, I203T, I325T | Neuropathy, hereditary sensory and autonomic, type 1A, Hereditary sensory and autonomic neuropathy type 1 | Uncertain significance
(Nov 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94874785-94874787
- GRCh38:
- Chr9:92112503-92112505
| SPTLC1 | L39del | Falls, Proximal lower limb amyotrophy, Muscle spasm,
EMG abnormality, Proximal muscle weakness, not provided,
Neuropathy, hereditary sensory and autonomic, type 1A, Hereditary sensory and autonomic neuropathy type 1 | Pathogenic/Likely pathogenic
(Mar 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94830336
- GRCh38:
- Chr9:92068054
| SPTLC1 | T158S, T3S, T36S | Neuropathy, hereditary sensory and autonomic, type 1A, Hereditary sensory and autonomic neuropathy type 1 | Uncertain significance
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94843196
- GRCh38:
- Chr9:92080914
| SPTLC1 | A104T | Neuropathy, hereditary sensory and autonomic, type 1A, not provided, Hereditary sensory and autonomic neuropathy type 1
| Uncertain significance
(Feb 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94830307
- GRCh38:
- Chr9:92068025
| SPTLC1 | | Inborn genetic diseases, Neuropathy, hereditary sensory and autonomic, type 1A, Hereditary sensory and autonomic neuropathy type 1
| Benign/Likely benign
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94809550
- GRCh38:
- Chr9:92047268
| SPTLC1 | R329*, R174*, R207* | Charcot-Marie-Tooth disease, Hereditary sensory and autonomic neuropathy type 1 | Uncertain significance
(May 24, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94809950
- GRCh38:
- Chr9:92047668
| SPTLC1 | A310G, A155G, A188G | Neuropathy, hereditary sensory and autonomic, type 1A, Hereditary sensory and autonomic neuropathy type 1 | Uncertain significance
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94800570
- GRCh38:
- Chr9:92038288
| SPTLC1 | R405H, R250H, R283H | Neuropathy, hereditary sensory and autonomic, type 1A, Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 1
| Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94812335
- GRCh38:
- Chr9:92050053
| SPTLC1 | | Inborn genetic diseases, not provided, Neuropathy, hereditary sensory and autonomic, type 1A,
Charcot-Marie-Tooth disease, Hereditary sensory and autonomic neuropathy type 1 | Likely benign
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94874834
- GRCh38:
- Chr9:92112552
| SPTLC1 | Y23F | Neuropathy, hereditary sensory and autonomic, type 1A, not provided | Likely pathogenic
(Nov 25, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94874782
- GRCh38:
- Chr9:92112500
| SPTLC1 | F40L | not provided, Neuropathy, hereditary sensory and autonomic, type 1A, Inborn genetic diseases,
Charcot-Marie-Tooth disease, Hereditary sensory and autonomic neuropathy type 1 | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:94794849
- GRCh38:
- Chr9:92032567
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A, not specified, Hereditary sensory and autonomic neuropathy type 1
| Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:94877679
- GRCh38:
- Chr9:92115397
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94874853
- GRCh38:
- Chr9:92112571
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A, Hereditary sensory and autonomic neuropathy type 1 | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:94842338
- GRCh38:
- Chr9:92080056
| SPTLC1 | | Charcot-Marie-Tooth disease, Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 1,
not provided, Neuropathy, hereditary sensory and autonomic, type 1A | Benign/Likely benign
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94830356
- GRCh38:
- Chr9:92068074
| SPTLC1 | R151L, R29L | Neuropathy, hereditary sensory and autonomic, type 1A, Charcot-Marie-Tooth disease, not provided,
Hereditary sensory and autonomic neuropathy type 1 | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94821511
- GRCh38:
- Chr9:92059229
| SPTLC1 | M214V, M59V, M92V | Neuropathy, hereditary sensory and autonomic, type 1A, Hereditary sensory and autonomic neuropathy type 1 | Conflicting interpretations of pathogenicity
(Sep 1, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:94809555
- GRCh38:
- Chr9:92047273
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A, not specified, Hereditary sensory and autonomic neuropathy type 1,
Inborn genetic diseases, not provided | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94808269
- GRCh38:
- Chr9:92045987
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A, Charcot-Marie-Tooth disease, not provided,
Hereditary sensory and autonomic neuropathy type 1 | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94800660-94800661
- GRCh38:
- Chr9:92038378-92038379
| SPTLC1 | | Charcot-Marie-Tooth disease, not provided, Neuropathy, hereditary sensory and autonomic, type 1A,
Hereditary sensory and autonomic neuropathy type 1 | Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94800563
- GRCh38:
- Chr9:92038281
| SPTLC1 | | not specified, Neuropathy, hereditary sensory and autonomic, type 1A, Inborn genetic diseases,
Hereditary sensory and autonomic neuropathy type 1 | Likely benign
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94800520
- GRCh38:
- Chr9:92038238
| SPTLC1 | | Hereditary sensory and autonomic neuropathy type 1, Charcot-Marie-Tooth disease, Neuropathy, hereditary sensory and autonomic, type 1A,
not specified | Benign/Likely benign
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94797172
- GRCh38:
- Chr9:92034890
| SPTLC1 | | Charcot-Marie-Tooth disease, not specified, not provided,
Neuropathy, hereditary sensory and autonomic, type 1A, Hereditary sensory and autonomic neuropathy type 1 | Benign/Likely benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94794623
- GRCh38:
- Chr9:92032341
| SPTLC1 | K505R | Neuropathy, hereditary sensory and autonomic, type 1A, not provided | Benign/Likely benign
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94794569
- GRCh38:
- Chr9:92032287
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94794557
- GRCh38:
- Chr9:92032275
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94794547
- GRCh38:
- Chr9:92032265
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94794302
- GRCh38:
- Chr9:92032020
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94794296
- GRCh38:
- Chr9:92032014
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94794264
- GRCh38:
- Chr9:92031982
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94794244
- GRCh38:
- Chr9:92031962
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94794142
- GRCh38:
- Chr9:92031860
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94794116
- GRCh38:
- Chr9:92031834
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94793997
- GRCh38:
- Chr9:92031715
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94793738
- GRCh38:
- Chr9:92031456
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94793654
- GRCh38:
- Chr9:92031372
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94793593
- GRCh38:
- Chr9:92031311
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94793577
- GRCh38:
- Chr9:92031295
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94793521
- GRCh38:
- Chr9:92031239
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94793445
- GRCh38:
- Chr9:92031163
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A | Benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94794758
- GRCh38:
- Chr9:92032476
| SPTLC1 | V471I, V316I, V349I, R460H | Charcot-Marie-Tooth disease, Neuropathy, hereditary sensory and autonomic, type 1A, not specified,
not provided, Hereditary sensory and autonomic neuropathy type 1 | Benign/Likely benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94843245
- GRCh38:
- Chr9:92080963
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A, Inborn genetic diseases, not specified,
not provided, Hereditary sensory and autonomic neuropathy type 1 | Likely benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94812355
- GRCh38:
- Chr9:92050073
| SPTLC1 | | Neuropathy, hereditary sensory and autonomic, type 1A, Charcot-Marie-Tooth disease, not specified,
Hereditary sensory and autonomic neuropathy type 1 | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94830232
- GRCh38:
- Chr9:92067950
| SPTLC1 | | Charcot-Marie-Tooth disease, not specified, Hereditary sensory and autonomic neuropathy type 1
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94809480
- GRCh38:
- Chr9:92047198
| SPTLC1 | A352V, A230V, A197V | Hereditary sensory and autonomic neuropathy type 1 | Uncertain significance
(Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94809543
- GRCh38:
- Chr9:92047261
| SPTLC1 | S331F, S176F, S209F | Neuropathy, hereditary sensory and autonomic, type 1A | Pathogenic
(Apr 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94842326
- GRCh38:
- Chr9:92080044
| SPTLC1 | C133W | Charcot-Marie-Tooth disease, Hereditary sensory and autonomic neuropathy type 1 | Pathogenic
(Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94800624
- GRCh38:
- Chr9:92038342
| SPTLC1 | G387A, G265A, G232A | Neuropathy, hereditary sensory and autonomic, type 1A, Inborn genetic diseases, Charcot-Marie-Tooth disease,
not provided, Hereditary sensory and autonomic neuropathy type 1 | Benign/Likely benign
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94830377
- GRCh38:
- Chr9:92068095
| SPTLC1 | V144D, V22D | Neuropathy, hereditary sensory and autonomic, type 1A, Inborn genetic diseases, Charcot-Marie-Tooth disease,
not provided, Hereditary sensory and autonomic neuropathy type 1 | Pathogenic/Likely pathogenic
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94842327
- GRCh38:
- Chr9:92080045
| SPTLC1 | C133Y | Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 1 | Pathogenic
(Sep 2, 2021) | criteria provided, multiple submitters, no conflicts |