ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p13.31(chr12:6070459-6737675)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 | |||
CHD4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
500 | 549 | |
CD27 | - | - |
GRCh38 GRCh37 |
4 | 257 | |
CD9 | - | - |
GRCh38 GRCh37 |
6 | 53 | |
GAPDH | - | - |
GRCh38 GRCh37 |
6 | 55 | |
IFFO1 | - | - |
GRCh38 GRCh37 |
24 | 88 | |
LPAR5 | - | - |
GRCh38 GRCh37 |
26 | 75 | |
LTBR | - | - |
GRCh38 GRCh37 |
29 | 88 | |
MRPL51 | - | - |
GRCh38 GRCh37 |
7 | 57 | |
NCAPD2 | - | - |
GRCh38 GRCh37 |
158 | 209 | |
NOP2 | - | - |
GRCh38 GRCh37 |
64 | 112 |
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) |
|
Apr 17, 2017 | RCV000848085.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023