ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p13.31(chr12:6530146-7376398)
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 | |||
CHD4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
516 | 565 | |
ACRBP | - | - |
GRCh38 GRCh37 |
30 | 78 | |
ATN1 | - | - |
GRCh38 GRCh37 |
170 | 258 | |
C12orf57 | - | - |
GRCh38 GRCh37 |
236 | 305 | |
C1R | - | - |
GRCh38 GRCh38 GRCh37 |
85 | 139 | |
C1RL | - | - |
GRCh38 GRCh38 GRCh37 |
35 | 94 | |
C1S | - | - |
GRCh38 GRCh37 |
482 | 535 | |
CD27 | - | - |
GRCh38 GRCh37 |
4 | 257 | |
CD4 | - | - |
GRCh38 GRCh37 |
38 | 89 | |
CDCA3 | - | - |
GRCh38 GRCh37 |
10 | 153 |
There are 32 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) |
|
Mar 1, 2022 | RCV002052968.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023