ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:106988-735154)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 |
22 | 88 | |
AXIN1 | - | - |
GRCh38 GRCh37 |
92 | 164 | |
CAPN15 | - | - |
GRCh38 GRCh38 GRCh37 |
208 | 277 | |
DECR2 | - | - |
GRCh38 GRCh38 GRCh37 |
42 | 110 | |
FAM234A | - | - | - |
GRCh38 GRCh37 |
52 | 128 |
HBA1 | - | - |
GRCh38 GRCh37 |
5 | 389 | |
HBA2 | - | - |
GRCh38 GRCh37 |
4 | 344 | |
HBM | - | - |
GRCh38 GRCh37 |
8 | 83 | |
HBQ1 | - | - |
GRCh38 GRCh37 |
10 | 88 | |
HBZ | - | - |
GRCh38 GRCh37 |
6 | 72 |
There are 24 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) |
|
Aug 14, 2018 | RCV001006742.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022