SOX9 · rs80338688
Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.
Strength of the evidence
There is no record yet to score this position by (a ClinVar disease classification or a genome-wide significant study). That is not the same as weak evidence.
4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.
What ClinVar records
Classification
Benign/Likely benign for Camptomelic dysplasia; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2025-10-21.
ClinVar record 669152 NM_000346.4(SOX9):c.1320C>T (p.Tyr440=)
Classification
Pathogenic for Camptomelic dysplasia; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2025-09-09.
ClinVar record 21163 NM_000346.4(SOX9):c.1320C>A (p.Tyr440Ter)
Classification
Pathogenic for CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, Camptomelic dysplasia, Connective tissue disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 5 submitters), last evaluated 2025-04-30.
ClinVar record 2510 NM_000346.4(SOX9):c.1320C>G (p.Tyr440Ter)
Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.
What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.
Source: ClinVar VCV000002510, criteria provided, multiple submitters, no conflicts
rs80338688 is a single position in the genome, in or near the SOX9 gene. Published research associates it with campomelic dysplasia with autosomal sex reversal. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
ClinVar VCV000002510, criteria provided, multiple submitters, no conflicts. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL (rs80338688). MyGeneLog™. https://www.mygenelog.com/variants/rs80338688