ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3
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 | |||
PKD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
3121 | 3620 | |
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10489 | 10664 | |
ABCA3 | - | - |
GRCh38 GRCh37 |
1517 | 1566 | |
AMDHD2 | - | - | - |
GRCh38 GRCh37 |
18 | 74 |
ATP6V0C | - | - |
GRCh38 GRCh37 |
21 | 63 | |
BRICD5 | - | - | - |
GRCh38 GRCh37 |
15 | 64 |
CASKIN1 | - | - |
GRCh38 GRCh37 |
85 | 132 | |
CCNF | - | - |
GRCh38 GRCh37 |
92 | 160 | |
CEMP1 | - | - |
GRCh38 GRCh37 |
- | 56 | |
DNASE1L2 | - | - |
GRCh38 GRCh37 |
8 | 49 |
There are 33 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) |
|
Apr 1, 2021 | RCV001827737.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023