ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:1942430-2653144)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 | |||
PKD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
3226 | 3733 | |
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10621 | 10796 | |
ABCA3 | - | - |
GRCh38 GRCh37 |
1543 | 1592 | |
AMDHD2 | - | - | - |
GRCh38 GRCh37 |
21 | 82 |
ATP6V0C | - | - |
GRCh38 GRCh37 |
21 | 64 | |
BRICD5 | - | - | - |
GRCh38 GRCh37 |
21 | 72 |
CASKIN1 | - | - |
GRCh38 GRCh37 |
113 | 160 | |
CCNF | - | - |
GRCh38 GRCh37 |
103 | 166 | |
CEMP1 | - | - |
GRCh38 GRCh37 |
- | 60 | |
DNASE1L2 | - | - |
GRCh38 GRCh37 |
12 | 53 |
There are 27 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 3, 2022 | RCV002473837.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023