ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q22.2(chr16:71822938-71974755)x1
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 | |||
AP1G1 | - | - |
GRCh38 GRCh37 |
79 | 120 | |
ATXN1L | - | - |
GRCh38 GRCh37 |
58 | 98 | |
IST1 | - | - |
GRCh38 GRCh37 |
21 | 62 | |
PKD1L3 | - | - |
GRCh38 GRCh37 |
147 | 188 | |
ZNF821 | - | - | - |
GRCh38 GRCh37 |
20 | 60 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 29, 2018 | RCV001006801.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022