ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:4462897-5172225)x3
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 | |||
ALG1 | - | - |
GRCh38 GRCh37 |
697 | 907 | |
ANKS3 | - | - |
GRCh38 GRCh37 |
86 | 121 | |
C16orf89 | - | - | - |
GRCh38 GRCh37 |
4 | 39 |
C16orf96 | - | - | - |
GRCh38 GRCh37 |
23 | 62 |
CDIP1 | - | - |
GRCh38 GRCh38 GRCh37 |
15 | 54 | |
CORO7 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 133 | |
CORO7-PAM16 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 210 |
DNAAF8 | - | - | - |
GRCh38 GRCh37 |
5 | 40 |
DNAJA3 | - | - |
GRCh38 GRCh38 GRCh37 |
51 | 90 | |
EEF2KMT | - | - |
GRCh38 GRCh37 |
39 | 158 |
There are 14 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 2, 2022 | RCV003485087.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024