Pulmonary hypertension: genes and variants
Explore variant evidence for Pulmonary hypertension across 2 analyzed proteins (CPS1, EDNRB). Linked ClinVar records include 29 pathogenic or likely pathogenic variants, 6 variants of uncertain significance and 21 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Pulmonary hypertension
CPS1: Carbamoyl-phosphate synthase [ammonia], mitochondrial
It catalyzes the first committed step of the hepatic urea cycle, incorporating ammonia into carbamoyl phosphate within mitochondria. Biallelic loss-of-function variants cause carbamoyl-phosphate synthetase I deficiency, which can produce life-threatening hyperammonemia.
29 ClinVar pathogenic / likely pathogenic and 27 uncertain variants in CPS1 have source records linked to Pulmonary hypertension. Association strength is not clinical gene validity.
EDNRB: Endothelin receptor type B
A G-protein-coupled receptor for endothelins that helps guide development of enteric neurons and melanocytes. Variants can cause Waardenburg-Shah syndrome, which can include Hirschsprung disease.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in EDNRB have source records linked to Pulmonary hypertension. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Pulmonary hypertension
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CPS1 R587H | 587 | ATP-grasp 1 | Pathogenic / likely pathogenic (★★) |
| CPS1 R587C | 587 | ATP-grasp 1 | Pathogenic / likely pathogenic (★★) |
| CPS1 R850H | 850 | Pathogenic / likely pathogenic (★★) | |
| CPS1 R587L | 587 | ATP-grasp 1 | Pathogenic / likely pathogenic (★★) |
| CPS1 R803G | 803 | Pathogenic / likely pathogenic (★★) | |
| CPS1 R850C | 850 | Pathogenic / likely pathogenic (★★) | |
| CPS1 P265L | 265 | Glutamine amidotransferase type-1 | Pathogenic / likely pathogenic (★★) |
| CPS1 A438P | 438 | Pathogenic / likely pathogenic (★★) | |
| CPS1 V457G | 457 | Pathogenic / likely pathogenic (★★) | |
| CPS1 S913L | 913 | Pathogenic / likely pathogenic (★★) | |
| CPS1 D914H | 914 | Pathogenic / likely pathogenic (★★) | |
| CPS1 G987C | 987 | Pathogenic / likely pathogenic (★★) | |
| CPS1 R1453Q | 1453 | MGS-like | Pathogenic / likely pathogenic (★★) |
| CPS1 T544M | 544 | Pathogenic / likely pathogenic (★★) | |
| CPS1 Y959C | 959 | Pathogenic / likely pathogenic (★★) | |
| CPS1 S1203P | 1203 | ATP-grasp 2 | Pathogenic / likely pathogenic (★★) |
| CPS1 R1453W | 1453 | MGS-like | Pathogenic / likely pathogenic (★★) |
| CPS1 R814W | 814 | Pathogenic / likely pathogenic (★★) | |
| CPS1 V1187F | 1187 | ATP-grasp 2 | Pathogenic / likely pathogenic (★★) |
| CPS1 G301E | 301 | Glutamine amidotransferase type-1 | Pathogenic / likely pathogenic (★★) |
| CPS1 N716K | 716 | ATP-grasp 1 | Pathogenic / likely pathogenic (★★) |
| CPS1 R780H | 780 | Pathogenic / likely pathogenic (★★) | |
| CPS1 K280N | 280 | Glutamine amidotransferase type-1 | Pathogenic / likely pathogenic (★★) |
| CPS1 P382L | 382 | Glutamine amidotransferase type-1 | Pathogenic / likely pathogenic (★★) |
| CPS1 R803H | 803 | Pathogenic / likely pathogenic (★) | |
| CPS1 G79E | 79 | Anthranilate phosphoribosyltransferase homolog | Pathogenic / likely pathogenic (★) |
| CPS1 R174W | 174 | Anthranilate phosphoribosyltransferase homolog | Pathogenic / likely pathogenic (★) |
| CPS1 S918P | 918 | Pathogenic / likely pathogenic (★) | |
| CPS1 A1378T | 1378 | MGS-like | Pathogenic / likely pathogenic (★) |
Uncertain variants prioritized for review in Pulmonary hypertension
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| CPS1 S1203L | 1203 | ATP-grasp 2 | Conflicting reports (★) | +7: S1203P at the same position is pathogenic; seen in 6.8e-06 of gnomAD DNA copies; REVEL 0.966 |
| CPS1 R803C | 803 | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; R803H at the same position is pathogenic; REVEL 0.942 | |
| CPS1 R803S | 803 | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; R803H at the same position is pathogenic; REVEL 0.930 |
Which prediction tools work for Pulmonary hypertension
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- REVEL: 96 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CADD: 95 out of 100
- PolyPhen-2: 92 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 89 out of 100
- phyloP: 73 out of 100
Diseases related to Pulmonary hypertension
- Waardenburg syndrome, also linked to EDNRB
- Pulmonary arterial hypertension, also linked to EDNRB
- Hirschsprung disease, also linked to EDNRB
- Hereditary breast ovarian cancer syndrome, also linked to CPS1
Frequently asked questions
Which genes have records linked to Pulmonary hypertension?
This view contains 2 analyzed proteins: CPS1, EDNRB. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 29 pathogenic or likely pathogenic variants, 6 variants of uncertain significance and 21 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 3 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 59 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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