ClinVar Genomic variation as it relates to human health
NC_000015.9:g.(?_89379429)_(91312836_?)del
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Pathogenic(1); Uncertain significance(1)
Pathogenic(1); Uncertain significance(1)
criteria provided, conflicting classifications
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 | |||
ABHD2 | - | - |
GRCh38 GRCh37 |
21 | 60 | |
ACAN | - | - |
GRCh38 GRCh37 |
1128 | 1162 | |
ANPEP | - | - |
GRCh38 GRCh37 |
63 | 121 | |
AP3S2 | - | - |
GRCh38 GRCh37 |
- | 53 | |
ARPIN | - | - |
GRCh38 GRCh37 |
- | 71 | |
ARPIN-AP3S2 | - | - | - |
GRCh38 GRCh37 |
- | 79 |
BLM | - | - |
GRCh38 GRCh37 |
4372 | 4424 | |
CIB1 | - | - |
GRCh38 GRCh37 |
142 | 242 | |
CRTC3 | - | - |
GRCh38 GRCh37 |
9 | 78 | |
FANCI | - | - |
GRCh38 GRCh37 |
1990 | 2187 |
There are 21 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) |
|
Jan 18, 2023 | RCV004582913.1 | |
Uncertain significance (1) |
|
Jan 18, 2023 | RCV004582914.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024