PNKP NM_007254.4(PNKP):c.1029+2T>C

CI-VAR-00032258Explore in graph →NM_007254.4:c.1029+2T>CClinVar 206401 rs199919568

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
206401	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Microcephaly, seizures, and developmental delay; Ataxia - oculomotor apraxia type 4; Developmental and epileptic encephalopathy, 12; Inborn genetic diseases; Abnormal cerebral morphology; Charcot-Marie-Tooth disease type 2B2; PNKP-related disorder; Microcephaly; Colon adenocarcinoma; Ovarian serous cystadenocarcinoma; Hepatocellular carcinoma; Adrenocortical carcinoma, hereditary; Uterine corpus endometrial carcinoma; Autosomal recessive PNKP-related disorders	germline	33	Aug 09, 2026	clinvar