ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_219135239)_(220290732_?)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 | |||
ABCB6 | - | - |
GRCh38 GRCh37 |
184 | 218 | |
ANKZF1 | - | - |
GRCh38 GRCh37 |
546 | 581 | |
ATG9A | - | - |
GRCh38 GRCh37 |
40 | 74 | |
BCS1L | - | - |
GRCh38 GRCh37 |
484 | 520 | |
CATIP | - | - |
GRCh38 GRCh37 |
3 | 52 | |
CDK5R2 | - | - |
GRCh38 GRCh37 |
17 | 47 | |
CFAP65 | - | - |
GRCh38 GRCh37 |
44 | 98 | |
CNOT9 | - | - |
GRCh38 GRCh37 |
8 | 36 | |
CNPPD1 | - | - | - |
GRCh38 GRCh37 |
29 | 63 |
CRYBA2 | - | - |
GRCh38 GRCh37 |
15 | 44 |
There are 31 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) |
|
Apr 20, 2018 | RCV000707774.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 02, 2023