ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3
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 | |
ANKRD34A | - | - | - |
GRCh38 GRCh37 |
14 | 216 |
ANKRD35 | - | - | - |
GRCh38 GRCh37 |
60 | 261 |
BCL9 | - | - |
GRCh38 GRCh37 |
96 | 382 | |
CD160 | - | - |
GRCh38 GRCh37 |
6 | 221 | |
CH17-408M7.1 | - | - | - | GRCh38 | - | 52 |
FAM72D | - | - |
GRCh38 GRCh37 |
5 | 31 |
There are 145 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053187.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 20, 2023