ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q12.2-12.3(chr2:107020782-110068385)x1
Germline
Classification
(1)
Likely 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 | |||
CCDC138 | - | - | - |
GRCh38 GRCh37 |
- | 103 |
EDAR | - | - |
GRCh38 GRCh37 |
3 | 384 | |
GCC2 | - | - |
GRCh38 GRCh37 |
120 | 166 | |
LIMS1 | - | - |
GRCh38 GRCh37 |
29 | 77 | |
RANBP2 | - | - |
GRCh38 GRCh37 |
1019 | 1617 | |
RGPD3 | - | - |
GRCh38 GRCh37 |
184 | 230 | |
RGPD4 | - | - |
GRCh38 GRCh37 |
176 | 216 | |
SLC5A7 | - | - |
GRCh38 GRCh37 |
493 | 539 | |
ST6GAL2 | - | - |
GRCh38 GRCh37 |
30 | 78 | |
SULT1C2 | - | - |
GRCh38 GRCh37 |
22 | 66 |
There are 2 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jun 5, 2020 | RCV001834385.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 17, 2022