ClinVar Genomic variation as it relates to human health
NC_000019.9:g.(?_12757434)_(13387962_?)dup
Germline
Classification
(1)
Uncertain significance
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 |
3405 | 3706 | |
NFIX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
390 | 424 | |
BEST2 | - | - |
GRCh38 GRCh37 |
16 | 47 | |
CALR | - | - |
GRCh38 GRCh37 |
21 | 71 | |
DAND5 | - | - |
GRCh38 GRCh37 |
9 | 35 | |
DHPS | - | - |
GRCh38 GRCh37 |
23 | 69 | |
DNASE2 | - | - |
GRCh38 GRCh37 |
120 | 186 | |
FARSA | - | - |
GRCh38 GRCh37 |
37 | 73 | |
FBXW9 | - | - |
GRCh38 GRCh37 |
35 | 62 | |
GADD45GIP1 | - | - |
GRCh38 GRCh37 |
18 | 44 |
There are 21 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 27, 2023 | RCV004581140.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024