ClinVar Genomic variation as it relates to human health
NC_000015.9:g.(?_62146656)_(64747263_?)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 | |||
TPM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
840 | 889 | |
APH1B | - | - |
GRCh38 GRCh37 |
6 | 21 | |
C2CD4A | - | - |
GRCh38 GRCh37 |
18 | 55 | |
C2CD4B | - | - |
GRCh38 GRCh37 |
47 | 64 | |
CA12 | - | - |
GRCh38 GRCh37 |
68 | 82 | |
CIAO2A | - | - |
GRCh38 GRCh37 |
9 | 23 | |
CSNK1G1 | - | - |
GRCh38 GRCh37 |
25 | 37 | |
DAPK2 | - | - |
GRCh38 GRCh37 |
31 | 47 | |
FBXL22 | - | - |
GRCh38 GRCh37 |
11 | 33 | |
HERC1 | - | - |
GRCh38 GRCh37 |
1265 | 1276 |
There are 11 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 4, 2022 | RCV003107781.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024