ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
ABHD13 | - | - | - |
GRCh38 GRCh37 |
16 | 133 |
ADPRHL1 | - | - |
GRCh38 GRCh37 |
45 | 166 | |
ANKRD10 | - | - | - |
GRCh38 GRCh37 |
15 | 127 |
ANKRD10-IT1 | - | - | - | GRCh37 | - | 108 |
ARGLU1 | - | - |
GRCh38 GRCh37 |
10 | 120 | |
ARHGEF7 | - | - |
GRCh38 GRCh37 |
41 | 163 | |
ATP11A | - | - |
GRCh38 GRCh37 |
127 | 257 | |
ATP11AUN | - | - | - |
GRCh38 GRCh37 |
- | 119 |
ATP4B | - | - |
GRCh38 GRCh38 GRCh37 |
- | 143 | |
CARS2 | - | - |
GRCh38 GRCh37 |
687 | 886 |
There are 31 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) |
|
- | RCV003987031.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024