ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1
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 | |||
GUCA1C | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
16 | 41 | |
ABHD10 | - | - |
GRCh38 GRCh37 |
16 | 33 | |
ATG3 | - | - |
GRCh38 GRCh37 |
8 | 38 | |
ATP6V1A | - | - |
GRCh38 GRCh37 |
284 | 315 | |
BBX | - | - | - |
GRCh38 GRCh37 |
52 | 70 |
BOC | - | - |
GRCh38 GRCh37 |
78 | 107 | |
BTLA | - | - |
GRCh38 GRCh37 |
6 | 35 | |
C3orf52 | - | - |
GRCh38 GRCh38 GRCh37 |
11 | 37 | |
CCDC191 | - | - | - |
GRCh38 GRCh37 |
29 | 79 |
CCDC54 | - | - | - |
GRCh38 GRCh37 |
23 | 41 |
There are 41 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) |
|
Oct 4, 2021 | RCV002472579.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023