ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:2188712-2580690)x4
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 | |||
ABCA3 | - | - |
GRCh38 GRCh37 |
1579 | 1630 | |
AMDHD2 | - | - | - |
GRCh38 GRCh37 |
24 | 89 |
ATP6V0C | - | - |
GRCh38 GRCh37 |
25 | 70 | |
BRICD5 | - | - | - |
GRCh38 GRCh37 |
25 | 81 |
CASKIN1 | - | - |
GRCh38 GRCh37 |
134 | 184 | |
CCNF | - | - |
GRCh38 GRCh37 |
113 | 180 | |
CEMP1 | - | - |
GRCh38 GRCh37 |
- | 64 | |
DNASE1L2 | - | - |
GRCh38 GRCh37 |
14 | 58 | |
E4F1 | - | - |
GRCh38 GRCh37 |
64 | 114 | |
ECI1 | - | - |
GRCh38 GRCh37 |
30 | 78 |
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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jan 20, 2016 | RCV000240524.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022