ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 |
3413 | 3714 | |
NFIX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
395 | 429 | |
BEST2 | - | - |
GRCh38 GRCh37 |
18 | 50 | |
BRME1 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 26 | |
C19orf53 | - | - | - |
GRCh38 GRCh37 |
- | 16 |
CALR | - | - |
GRCh38 GRCh37 |
21 | 72 | |
CC2D1A | - | - |
GRCh38 GRCh38 GRCh37 |
564 | 583 | |
DAND5 | - | - |
GRCh38 GRCh37 |
12 | 38 | |
DCAF15 | - | - |
GRCh38 GRCh38 GRCh37 |
34 | 53 | |
DHPS | - | - |
GRCh38 GRCh37 |
26 | 74 |
There are 37 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) |
|
May 1, 2021 | RCV001834482.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023