ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_2098597)_(2550979_?)dup
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 |
3284 | 3803 | |
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10627 | 10802 | |
ABCA3 | - | - |
GRCh38 GRCh37 |
1543 | 1592 | |
BRICD5 | - | - | - |
GRCh38 GRCh37 |
21 | 72 |
CASKIN1 | - | - |
GRCh38 GRCh37 |
113 | 160 | |
CCNF | - | - |
GRCh38 GRCh37 |
103 | 166 | |
DNASE1L2 | - | - |
GRCh38 GRCh37 |
12 | 53 | |
E4F1 | - | - |
GRCh38 GRCh37 |
51 | 98 | |
ECI1 | - | - |
GRCh38 GRCh37 |
28 | 73 | |
MIR1225 | - | - |
GRCh38 GRCh37 |
- | 92 |
There are 8 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 13, 2020 | RCV001308310.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 06, 2023