ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_230203028)_(231413288_?)del
Germline
Classification
(2)
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 | |||
AGT | - | - |
GRCh38 GRCh37 |
189 | 235 | |
ARV1 | - | - |
GRCh38 GRCh37 |
41 | 100 | |
C1orf131 | - | - | - |
GRCh38 GRCh37 |
2 | 52 |
C1orf198 | - | - | - |
GRCh38 GRCh37 |
4 | 51 |
CAPN9 | - | - |
GRCh38 GRCh37 |
62 | 110 | |
COG2 | - | - |
GRCh38 GRCh37 |
199 | 249 | |
FAM89A | - | - | - |
GRCh38 GRCh37 |
11 | 61 |
GALNT2 | - | - |
GRCh38 GRCh37 |
111 | 165 | |
GNPAT | - | - |
GRCh38 GRCh37 |
500 | 552 | |
PGBD5 | - | - |
GRCh38 GRCh37 |
5 | 49 |
There are 2 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 16, 2022 | RCV003109448.4 | |
no classifications from unflagged records (1) |
|
- | RCV003113491.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024