ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:109978-4316797)
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 |
2413 | 2531 | |
PKD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
3663 | 4235 | |
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10739 | 10936 | |
TPSD1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
40 | 103 | |
DNASE1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
45 | 234 | |
MEFV | No evidence available | No evidence available |
GRCh38 GRCh37 |
955 | 1255 | |
SOX8 | No evidence available | No evidence available |
GRCh38 GRCh37 |
75 | 139 | |
ABCA3 | - | - |
GRCh38 GRCh37 |
1579 | 1630 | |
ADCY9 | - | - |
GRCh38 GRCh37 |
96 | 146 | |
AMDHD2 | - | - | - |
GRCh38 GRCh37 |
24 | 89 |
There are 151 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 1, 2018 | RCV000767731.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023