Variants
Disease-causing variants, by gene and condition.
20,994 variants have a page of their own: where each sits, what it changes and how ClinVar's reviewers classify it.
Search the strip above by a variant's name, its protein change, HGVS or rsID, alone or after its gene.
- Variant pages
- 20,994
- Genes
- 165
- Reviewed by an expert panel or guideline
- 12,247
- Data release
- 17 October 2026
Most reported variants
The variants with the most laboratory submissions to ClinVar behind one classification: the ones tested for and written about most often.
| Variant | Gene | ClinVar classification | Review status |
|---|---|---|---|
| A455E | CFTR | Pathogenic | 4 stars out of 4 practice guideline |
| c.1585-1G>A1717-1G->A | CFTR | Pathogenic | 4 stars out of 4 practice guideline |
| A1773V | ABCA4 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1791Gfs*9 | ABCA4 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A95D | ABCD1 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.-18_8del | ABCD1 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A141Gfs*9 | ACADVL | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A180T | ACADVL | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.617-5C>A | ACTA1 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.687G>C | ACTA1 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E101K | ACTC1 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I284F | ACTC1 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C207Lfs*51 | ACVRL1 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C46S | ACVRL1 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A329V | ADA | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1078+2T>A | ADA | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A432G | ANO5 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1898+1G>A | ANO5 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1311_1312+1del | APC | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1312+1_1312+16del | APC | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A911Rfs*19 | ATM | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1122_1123del | ATM | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A246P | BRAF | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.735A>T | BRAF | Pathogenic | 3 stars out of 4 reviewed by expert panel |
By gene
Every gene with a variant page, A to Z. Each opens the gene's full list.
A
B
C
D
G
M
P
R
S
- SCN1A12 variants
- SCN1B1 variant
- SCN3A2 variants
- SCN5A47 variants
- SDHAF214 variants
- SDHB87 variants
- SDHC28 variants
- SDHD12 variants
- SERPINC145 variants
- SGCA28 variants
- SGCB8 variants
- SGCD2 variants
- SGCG10 variants
- SHOC21 variant
- SLC6A882 variants
- SLC26A414 variants
- SMAD35 variants
- SMAD415 variants
- SOS113 variants
- STK1168 variants
T
By kind of change
What the variants with a page do to the gene, by their predicted effect on its main transcript.
- Frameshift7,760 variants
- Nonsense (stop gained)4,792 variants
- Splice site or region2,556 variants
- Start lost103 variants
- Stop lost21 variants
- In-frame insertion or deletion212 variants
- Missense5,400 variants
- Synonymous25 variants
- Untranslated region9 variants
- Other116 variants
How to read a classification
ClinVar collects what laboratories and researchers conclude about a variant. Pathogenic means the evidence shows it can cause a condition; likely pathogenic means the evidence points that way with a little less certainty.
Review stars say how much scrutiny a classification has had, from none to four. Three stars means an expert panel reviewed it; four means it is set by a practice guideline.
A variant has a page here when ClinVar classifies it pathogenic or likely pathogenic with three stars or more, or with two stars in a gene on the ACMG secondary findings list, under a condition one of our reports looks at.
Limitations
This page lists publicly available information about genetic variants. It is not a diagnosis, and it says nothing about whether you or anyone else carries any of them.
Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports.
Only variants that meet our criteria have a page, so a variant missing from this list may still cause disease.
If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor.
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