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Neurodevelopmental disorder with central hypotonia and dysmorphic facies

HDAC4 · rs2152917896

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

1 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 0 of 4 stars.

How this is scored

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 Pathogenic for Neurodevelopmental disorder with central hypotonia and dysmorphic facies; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2022-03-18. ClinVar record 1344564 NM_001378414.1(HDAC4):c.740A>G (p.Glu247Gly)

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.

What each result means

C/C Two copies of the version ClinVar lists as disease-causing for Neurodevelopmental disorder with central hypotonia and dysmorphic facies. A result like this should be confirmed by a medical genetic test and talked through with a doctor; consumer DNA files can misread rare variants. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV001344564, no assertion criteria provided)
C/T One copy of the version ClinVar lists as disease-causing for Neurodevelopmental disorder with central hypotonia and dysmorphic facies. Some conditions need only one copy; for others, one copy makes a person a carrier who is usually healthy but can pass it on. A genetic counsellor can say which applies. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV001344564, no assertion criteria provided)
T/T No copy of the version ClinVar lists as disease-causing for Neurodevelopmental disorder with central hypotonia and dysmorphic facies. This is the usual result. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV001344564, no assertion criteria provided)

Source: ClinVar VCV001344564, no assertion criteria provided

Questions about rs2152917896

What is rs2152917896?

rs2152917896 is a single position in the genome, in or near the HDAC4 gene. Published research associates it with neurodevelopmental disorder with central hypotonia and dysmorphic facies. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2152917896 mean I will get this?

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.

Where does the information about rs2152917896 come from?

ClinVar VCV001344564, no assertion criteria provided. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Neurodevelopmental disorder with central hypotonia and dysmorphic facies (rs2152917896). MyGeneLog™. https://www.mygenelog.com/variants/rs2152917896

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