ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q22.2(chr16:71799420-72372326)x1
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 |
68 | 109 | |
ATXN1L | - | - |
GRCh38 GRCh37 |
58 | 98 | |
DHODH | - | - |
GRCh38 GRCh37 |
131 | 201 | |
DHX38 | - | - |
GRCh38 GRCh37 |
709 | 848 | |
HP | - | - |
GRCh38 GRCh37 |
44 | 88 | |
HPR | - | - |
GRCh38 GRCh37 |
46 | 90 | |
IST1 | - | - |
GRCh38 GRCh37 |
21 | 62 | |
PKD1L3 | - | - |
GRCh38 GRCh37 |
147 | 188 | |
PMFBP1 | - | - |
GRCh38 GRCh37 |
99 | 137 | |
TXNL4B | - | - |
GRCh38 GRCh37 |
11 | 51 |
There is 1 more gene 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 29, 2021 | RCV002475003.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022