ClinVar Genomic variation as it relates to human health
NC_000019.9:g.(?_12651855)_(13373667_?)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 | |||
CACNA1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3458 | 3766 | |
NFIX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
400 | 434 | |
BEST2 | - | - |
GRCh38 GRCh37 |
18 | 50 | |
CALR | - | - |
GRCh38 GRCh37 |
22 | 73 | |
DAND5 | - | - |
GRCh38 GRCh37 |
12 | 38 | |
DHPS | - | - |
GRCh38 GRCh37 |
27 | 76 | |
DNASE2 | - | - |
GRCh38 GRCh37 |
120 | 186 | |
FARSA | - | - |
GRCh38 GRCh37 |
39 | 75 | |
FBXW9 | - | - |
GRCh38 GRCh37 |
38 | 65 | |
GADD45GIP1 | - | - |
GRCh38 GRCh37 |
19 | 45 |
There are 24 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) |
|
Jun 14, 2022 | RCV004581135.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024