ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:324072-705832)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 | |||
ARHGDIG | - | - |
GRCh38 GRCh37 |
20 | 85 | |
AXIN1 | - | - |
GRCh38 GRCh37 |
82 | 151 | |
CAPN15 | - | - |
GRCh38 GRCh38 GRCh37 |
195 | 261 | |
DECR2 | - | - |
GRCh38 GRCh38 GRCh37 |
40 | 105 | |
MCRIP2 | - | - | - |
GRCh38 GRCh37 |
1 | 66 |
METTL26 | - | - | - |
GRCh38 GRCh37 |
3 | 65 |
MRPL28 | - | - |
GRCh38 GRCh37 |
24 | 88 | |
NHLRC4 | - | - | - |
GRCh38 GRCh37 |
4 | 64 |
NME4 | - | - |
GRCh38 GRCh37 |
18 | 90 | |
PDIA2 | - | - |
GRCh38 GRCh37 |
83 | 148 |
There are 8 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) |
|
Jul 20, 2015 | RCV000207302.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024