| - GRCh37:
- ChrX:106890957
- GRCh38:
- ChrX:107647727
| PRPS1 | P276S, P72S | Charcot-Marie-Tooth disease X-linked recessive 5 | Likely pathogenic
(Mar 1, 2022) | no assertion criteria provided |
| - GRCh37:
- ChrX:106884208
- GRCh38:
- ChrX:107640978
| PRPS1 | D128V | Charcot-Marie-Tooth Neuropathy X, not provided, Charcot-Marie-Tooth disease X-linked recessive 5
| Likely pathogenic
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:106884159
- GRCh38:
- ChrX:107640929
| PRPS1 | V112I | Charcot-Marie-Tooth Neuropathy X, Arts syndrome, Hearing loss, X-linked 1,
Charcot-Marie-Tooth disease X-linked recessive 5, Phosphoribosylpyrophosphate synthetase superactivity | Uncertain significance
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:106890825
- GRCh38:
- ChrX:107647595
| PRPS1 | | not provided, Phosphoribosylpyrophosphate synthetase superactivity, Hearing loss, X-linked 1,
Arts syndrome, Charcot-Marie-Tooth disease X-linked recessive 5, Charcot-Marie-Tooth Neuropathy X
| Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:106888487
- GRCh38:
- ChrX:107645257
| PRPS1 | R204H | Arts syndrome, Hearing loss, X-linked 1, Charcot-Marie-Tooth disease X-linked recessive 5,
Phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth Neuropathy X | Uncertain significance
(Dec 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:106888449
- GRCh38:
- ChrX:107645219
| PRPS1 | | Inborn genetic diseases, Nephrolithiasis/nephrocalcinosis, Hearing loss, X-linked 1,
Charcot-Marie-Tooth disease X-linked recessive 5, Phosphoribosylpyrophosphate synthetase superactivity, Arts syndrome,
Charcot-Marie-Tooth Neuropathy X, not specified | Benign/Likely benign
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:106882506-106882507
- GRCh38:
- ChrX:107639276-107639277
| PRPS1 | | Charcot-Marie-Tooth Neuropathy X, Arts syndrome, Hearing loss, X-linked 1,
Phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive 5, not specified
| Benign/Likely benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:106882690
- GRCh38:
- ChrX:107639460
| PRPS1 | | Nephrolithiasis/nephrocalcinosis, Inborn genetic diseases, Hearing loss, X-linked 1,
Phosphoribosylpyrophosphate synthetase superactivity, Arts syndrome, Charcot-Marie-Tooth disease X-linked recessive 5,
not provided, Charcot-Marie-Tooth Neuropathy X | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:106871904
- GRCh38:
- ChrX:107628674
| PRPS1 | S16P | Charcot-Marie-Tooth disease X-linked recessive 5 | Pathogenic
(Sep 23, 2016) | no assertion criteria provided |
| - GRCh37:
- ChrX:106893230
- GRCh38:
- ChrX:107650000
| PRPS1 | V105F | Charcot-Marie-Tooth disease X-linked recessive 5 | Pathogenic
(Oct 1, 2013) | criteria provided, single submitter |
| - GRCh37:
- ChrX:106884168
- GRCh38:
- ChrX:107640938
| PRPS1 | | Charcot-Marie-Tooth disease X-linked recessive 5, Hearing loss, X-linked 1 | Pathogenic
(Oct 1, 2013) | criteria provided, single submitter |
| - GRCh37:
- ChrX:106884187
- GRCh38:
- ChrX:107640957
| PRPS1 | A121G | Charcot-Marie-Tooth disease X-linked recessive 5 | Pathogenic
(Oct 1, 2013) | no assertion criteria provided |
| - GRCh37:
- ChrX:106885667
- GRCh38:
- ChrX:107642437
| PRPS1 | | Charcot-Marie-Tooth Neuropathy X, not specified, Arts syndrome,
Hearing loss, X-linked 1, Charcot-Marie-Tooth disease X-linked recessive 5, Phosphoribosylpyrophosphate synthetase superactivity,
not provided, Arts syndrome, Hearing loss, X-linked 1,
Phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive 5 ...see more | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:106885637
- GRCh38:
- ChrX:107642407
| PRPS1 | | History of neurodevelopmental disorder, Hearing loss, X-linked 1, Charcot-Marie-Tooth disease X-linked recessive 5,
Phosphoribosylpyrophosphate synthetase superactivity, Arts syndrome, not specified,
Charcot-Marie-Tooth Neuropathy X, Phosphoribosylpyrophosphate synthetase superactivity, Arts syndrome,
Hearing loss, X-linked 1 | Benign/Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:106884169
- GRCh38:
- ChrX:107640939
| PRPS1 | M115T | Charcot-Marie-Tooth Neuropathy X | Likely pathogenic
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:106882531
- GRCh38:
- ChrX:107639301
| PRPS1 | E43D | Charcot-Marie-Tooth disease X-linked recessive 5 | Pathogenic
(Sep 1, 2007) | no assertion criteria provided |