LOXHD1 NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr)

CI-VAR-00008751Explore in graph →p.Asp694TyrNM_001384474.1:c.2080G>TClinVar 47924 rs35727744

Curated evidence

Evidence by cancer (0 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

Data not yet available

No curated evidence item references this variant yet.

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
47924	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Autosomal recessive nonsyndromic hearing loss 77; Malignant tumor of esophagus	germline	8	Jan 31, 2026	clinvar