ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1
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 | |||
ACSS3 | - | - |
GRCh38 GRCh37 |
45 | 61 | |
ATXN7L3B | - | - |
GRCh38 GRCh37 |
6 | 19 | |
BBS10 | - | - |
GRCh38 GRCh37 |
924 | 938 | |
CAPS2 | - | - |
GRCh38 GRCh37 |
50 | 79 | |
CSRP2 | - | - |
GRCh38 GRCh37 |
8 | 21 | |
E2F7 | - | - |
GRCh38 GRCh37 |
58 | 71 | |
GLIPR1 | - | - |
GRCh38 GRCh37 |
16 | 49 | |
GLIPR1L1 | - | - |
GRCh38 GRCh37 |
- | 29 | |
GLIPR1L2 | - | - |
GRCh38 GRCh37 |
31 | 48 | |
KCNC2 | - | - |
GRCh38 GRCh37 |
71 | 90 |
There are 15 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) |
|
- | RCV003986983.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024