ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3
Germline
Classification
(1)
Pathogenic
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 | |||
CREBBP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2196 | 2307 | |
PKD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
3292 | 3820 | |
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10660 | 10854 | |
DNASE1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
42 | 224 | |
MEFV | No evidence available | No evidence available |
GRCh38 GRCh37 |
951 | 1250 | |
ABCA3 | - | - |
GRCh38 GRCh37 |
1552 | 1603 | |
ADCY9 | - | - |
GRCh38 GRCh37 |
87 | 137 | |
AMDHD2 | - | - | - |
GRCh38 GRCh37 |
21 | 84 |
ATP6V0C | - | - |
GRCh38 GRCh37 |
21 | 66 | |
BICDL2 | - | - |
GRCh38 GRCh37 |
6 | 48 |
There are 95 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) |
|
Jan 3, 2018 | RCV000683745.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023