ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_1203718)_(2185710_?)del
Germline
Classification
(1)
Pathogenic
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 |
3212 | 3718 | |
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10621 | 10796 | |
TPSD1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
32 | 93 | |
BAIAP3 | - | - |
GRCh38 GRCh37 |
136 | 193 | |
CACNA1H | - | - |
GRCh38 GRCh37 |
3415 | 3476 | |
CCDC154 | - | - |
GRCh38 GRCh37 |
69 | 123 | |
CLCN7 | - | - |
GRCh38 GRCh37 |
1115 | 1229 | |
CRAMP1 | - | - | - |
GRCh38 GRCh37 |
87 | 143 |
EME2 | - | - |
GRCh38 GRCh37 |
5 | 139 | |
FAHD1 | - | - |
GRCh38 GRCh37 |
13 | 82 |
There are 37 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) |
|
Mar 10, 2019 | RCV001033886.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023