ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)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 |
283 | 314 | |
BOC | - | - |
GRCh38 GRCh37 |
78 | 107 | |
BTLA | - | - |
GRCh38 GRCh37 |
6 | 35 | |
C3orf52 | - | - |
GRCh38 GRCh38 GRCh37 |
11 | 37 | |
C3orf85 | - | - | - | GRCh38 | - | 11 |
CCDC191 | - | - | - |
GRCh38 GRCh37 |
29 | 79 |
CCDC80 | - | - |
GRCh38 GRCh37 |
63 | 94 |
There are 177 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 | RCV000051544.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023