ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:84485-5251013)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 | |||
CREBBP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2165 | 2276 | |
PKD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
3121 | 3620 | |
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10489 | 10664 | |
TPSD1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
25 | 86 | |
DNASE1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
38 | 212 | |
MEFV | No evidence available | No evidence available |
GRCh38 GRCh37 |
943 | 1239 | |
SOX8 | No evidence available | No evidence available |
GRCh38 GRCh37 |
60 | 121 | |
ABCA3 | - | - |
GRCh38 GRCh37 |
1517 | 1566 | |
ADCY9 | - | - |
GRCh38 GRCh37 |
72 | 122 | |
ALG1 | - | - |
GRCh38 GRCh37 |
685 | 888 |
There are 180 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) |
|
Nov 21, 2019 | RCV001537890.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023