ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1
Germline
Classification
(1)
Pathogenic
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 |
3284 | 3803 | |
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10627 | 10802 | |
BRICD5 | - | - | - |
GRCh38 GRCh37 |
21 | 72 |
CASKIN1 | - | - |
GRCh38 GRCh37 |
113 | 160 | |
E4F1 | - | - |
GRCh38 GRCh37 |
51 | 98 | |
EME2 | - | - |
GRCh38 GRCh37 |
5 | 139 | |
FAHD1 | - | - |
GRCh38 GRCh37 |
13 | 82 | |
GFER | - | - |
GRCh38 GRCh38 GRCh37 |
91 | 205 | |
HAGH | - | - |
GRCh38 GRCh37 |
20 | 74 | |
HS3ST6 | - | - |
GRCh38 GRCh38 GRCh37 |
36 | 87 |
There are 26 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 13, 2017 | RCV000683746.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023