ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q21.1-21.2(chr1:146405854-147597284)x1
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 | |||
GJA5 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
217 | 572 | |
GJA8 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
189 | 475 | |
CHD1L | No evidence available | No evidence available |
GRCh38 GRCh37 |
156 | 517 | |
ACP6 | - | - |
GRCh38 GRCh37 |
31 | 317 | |
BCL9 | - | - |
GRCh38 GRCh37 |
96 | 382 | |
FMO5 | - | - |
GRCh38 GRCh37 |
- | 337 | |
GPR89B | - | - |
GRCh38 GRCh37 |
10 | 286 | |
NBPF12 | - | - |
GRCh38 GRCh37 |
3 | 220 | |
PRKAB2 | - | - |
GRCh38 GRCh37 |
7 | 295 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 1, 2023 | RCV003222662.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024