Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr1:207783021
- GRCh38:
- Chr1:207609676
| CR1 | H1645N, H2095N | Hypothyroidism, Polyarticular arthritis, Anxiety
| Uncertain significance
(Jan 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662764
- GRCh38:
- Chr1:53197092
| CPT2, LOC129930561 | P50H | Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyltransferase II deficiency, not provided,
Carnitine palmitoyl transferase II deficiency, severe infantile form, Chronic pain, Inappropriate sinus tachycardia,
Sinus tachycardia, Polyarticular arthritisAbnormal autonomic nervous system physiology,
Arthritis, Gastrointestinal dysmotility, Pancytopenia,
...see more | Pathogenic
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |