Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr7:25451740-33864069
| ADCYAP1R1, AQP1, AVL9, BBS9, CBX3, CHN2, CPVL, CREB5, CRHR2, EVX1, FKBP14, FKBP9, GARS1, GGCT, GHRHR, HIBADH, HNRNPA2B1, HOTAIRM1, HOTTIP, HOXA1, HOXA10, HOXA11, HOXA11-AS, HOXA13, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, INMT, ITPRID1, JAZF1, KBTBD2, LINC02860, LSM5, MINDY4, MIR148A, MIR196B, MTURN, NEUROD6, NFE2L3, NOD1, NT5C3A, PDE1C, PLEKHA8, PPP1R17, PRR15, RP9, SCRN1, SKAP2, SNX10, TAX1BP1, TRIL, WIPF3, ZNRF2 | | Cyclical vomiting syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrMT:3243
- GRCh38:
- ChrMT:3243
| MT-TL1 | | Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1, Stroke, Sensorineural hearing impairment,
Glucose intolerance, Short stature, not provided,
not specified, MERRF syndrome, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke,
Mitochondrial disease, Juvenile myopathy, encephalopathy, lactic acidosis AND strokeDiabetes-deafness syndrome maternally transmitted,
See cases, Cerebral palsy, ...see more | Pathogenic/Likely pathogenic
(Aug 14, 2023) | criteria provided, multiple submitters, no conflicts |