ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3
Germline
Classification
(1)
Uncertain significance
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 |
3379 | 3674 | |
NFIX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
382 | 413 | |
ACP5 | - | - |
GRCh38 GRCh37 |
299 | 317 | |
ADGRE5 | - | - |
GRCh38 GRCh37 |
49 | 91 | |
ADGRL1 | - | - |
GRCh38 GRCh38 GRCh37 |
7 | 148 | |
ASF1B | - | - |
GRCh38 GRCh38 GRCh37 |
15 | 31 | |
BEST2 | - | - |
GRCh38 GRCh37 |
15 | 44 | |
BRME1 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 26 | |
C19orf53 | - | - |
GRCh38 GRCh37 |
- | 16 | |
C19orf67 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 15 |
There are 74 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jun 23, 2014 | RCV000511013.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024