ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q37.3(chr2:237577774-239670026)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 | |||
ASB1 | - | - |
GRCh38 GRCh37 |
18 | 104 | |
COL6A3 | - | - |
GRCh38 GRCh37 |
3248 | 3449 | |
COPS8 | - | - |
GRCh38 GRCh37 |
13 | 88 | |
ERFE | - | - |
GRCh38 GRCh37 |
1 | 87 | |
ESPNL | - | - |
GRCh38 GRCh37 |
117 | 204 | |
HES6 | - | - |
GRCh38 GRCh37 |
15 | 102 | |
ILKAP | - | - |
GRCh38 GRCh37 |
19 | 104 | |
KLHL30 | - | - | - |
GRCh38 GRCh37 |
72 | 159 |
LRRFIP1 | - | - |
GRCh38 GRCh37 |
64 | 154 | |
MLPH | - | - |
GRCh38 GRCh37 |
186 | 279 |
There are 8 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV004442768.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024