ClinVar Genomic variation as it relates to human health
NC_000003.12:g.177772523_185716872dup
Germline
Classification
(1)
Likely pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
SOX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 237 | |
PIK3CA | No evidence available | No evidence available |
GRCh38 GRCh37 |
1239 | 1273 | |
ABCC5 | - | - |
GRCh38 GRCh37 |
61 | 102 | |
ABCC5-AS1 | - | - | - | GRCh38 | - | 18 |
ABCF3 | - | - |
GRCh38 GRCh37 |
32 | 77 | |
ACTL6A | - | - |
GRCh38 GRCh37 |
31 | 61 | |
ALG3 | - | - |
GRCh38 GRCh37 |
197 | 245 | |
AP2M1 | - | - |
GRCh38 GRCh37 |
202 | 261 | |
ATP11B | - | - |
GRCh38 GRCh37 |
47 | 80 | |
ATP11B-DT | - | - | - | GRCh38 | - | 14 |
There are 272 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV000417195.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023