ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q12.12-12.13(chr13:23315046-25573967)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 | |||
ATP12A | - | - |
GRCh38 GRCh37 |
63 | 120 | |
C1QTNF9 | - | - |
GRCh38 GRCh37 |
27 | 102 | |
C1QTNF9B | - | - |
GRCh38 GRCh37 |
14 | 111 | |
CENPJ | - | - |
GRCh38 GRCh37 |
432 | 658 | |
MIPEP | - | - |
GRCh38 GRCh37 |
195 | 305 | |
PARP4 | - | - |
GRCh38 GRCh37 |
125 | 174 | |
PCOTH | - | - |
GRCh38 GRCh37 |
- | 122 | |
RNF17 | - | - |
GRCh38 GRCh37 |
80 | 308 | |
SACS | - | - |
GRCh38 GRCh37 |
4043 | 4243 | |
SGCG | - | - |
GRCh38 GRCh37 |
545 | 656 |
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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 1, 2021 | RCV001834502.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023