ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q13(chr2:113295194-114085649)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 | |||
PAX8 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
107 | 226 | |
CHCHD5 | - | - |
GRCh38 GRCh37 |
10 | 24 | |
CKAP2L | - | - |
GRCh38 GRCh37 |
148 | 205 | |
IL1A | - | - |
GRCh38 GRCh37 |
27 | 41 | |
IL1B | - | - |
GRCh38 GRCh37 |
22 | 36 | |
IL1F10 | - | - |
GRCh38 GRCh37 |
10 | 33 | |
IL1RN | - | - |
GRCh38 GRCh37 |
224 | 247 | |
IL36A | - | - |
GRCh38 GRCh37 |
14 | 36 | |
IL36B | - | - |
GRCh38 GRCh37 |
7 | 29 | |
IL36G | - | - |
GRCh38 GRCh37 |
10 | 32 |
There are 6 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 1, 2021 | RCV001834499.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022