ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q22.2(chr16:71422334-72110927)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 | |||
AP1G1 | - | - |
GRCh38 GRCh37 |
58 | 97 | |
ATXN1L | - | - |
GRCh38 GRCh37 |
48 | 86 | |
CALB2 | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 58 | |
CHST4 | - | - | - |
GRCh38 GRCh37 |
25 | 67 |
DHODH | - | - |
GRCh38 GRCh37 |
130 | 197 | |
HP | - | - |
GRCh38 GRCh37 |
42 | 84 | |
HPR | - | - |
GRCh38 GRCh37 |
44 | 86 | |
IST1 | - | - |
GRCh38 GRCh37 |
20 | 59 | |
MARVELD3 | - | - |
GRCh38 GRCh37 |
18 | 56 | |
PHLPP2 | - | - |
GRCh38 GRCh37 |
84 | 122 |
There are 5 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 23, 2021 | RCV002474984.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022