ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3
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 |
3044 | 3549 | |
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10386 | 10575 | |
TPSD1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
26 | 91 | |
BAIAP3 | - | - |
GRCh38 GRCh37 |
102 | 165 | |
BRICD5 | - | - | - |
GRCh38 GRCh37 |
15 | 79 |
CACNA1H | - | - |
GRCh38 GRCh37 |
3392 | 3461 | |
CASKIN1 | - | - |
GRCh38 GRCh37 |
85 | 151 | |
CCDC154 | - | - |
GRCh38 GRCh37 |
47 | 107 | |
CLCN7 | - | - |
GRCh38 GRCh37 |
1108 | 1228 | |
CRAMP1 | - | - | - |
GRCh38 GRCh37 |
63 | 123 |
There are 154 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052373.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023