ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:2011148-2161281)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 |
3663 | 4235 | |
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10739 | 10936 | |
GFER | - | - |
GRCh38 GRCh38 GRCh37 |
91 | 208 | |
MIR1225 | - | - |
GRCh38 GRCh37 |
- | 104 | |
NDUFB10 | - | - |
GRCh38 GRCh38 GRCh37 |
60 | 135 | |
NOXO1 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 105 | |
NPW | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 70 | |
NTHL1 | - | - |
GRCh38 GRCh37 |
1521 | 1642 | |
RNF151 | - | - | - |
GRCh38 GRCh38 GRCh37 |
27 | 82 |
RPS2 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 64 |
There are 5 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) |
|
Oct 4, 2019 | RCV001259758.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022