ClinVar Genomic variation as it relates to human health
NC_000001.11:g.(?_145430995)_(148427734_?)del
Germline
Classification
(1)
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 | |||
GJA5 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
217 | 573 | |
GJA8 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
189 | 476 | |
CHD1L | No evidence available | No evidence available |
GRCh38 GRCh37 |
156 | 518 | |
ACP6 | - | - |
GRCh38 GRCh37 |
31 | 318 | |
ANKRD34A | - | - | - |
GRCh38 GRCh37 |
14 | 216 |
ANKRD35 | - | - | - |
GRCh38 GRCh37 |
60 | 261 |
BCL9 | - | - |
GRCh38 GRCh37 |
96 | 383 | |
CD160 | - | - |
GRCh38 GRCh37 |
6 | 221 | |
CH17-408M7.1 | - | - | - | GRCh38 | - | 53 |
FMO5 | - | - |
GRCh38 GRCh37 |
- | 338 |
There are 110 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 20, 2018 | RCV000754127.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024