ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1
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 | |||
GUCA1C | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
16 | 41 | |
ABHD10 | - | - |
GRCh38 GRCh37 |
21 | 38 | |
ABI3BP | - | - |
GRCh38 GRCh37 |
68 | 82 | |
ADGRG7 | - | - |
GRCh38 GRCh37 |
75 | 91 | |
ALCAM | - | - |
GRCh38 GRCh37 |
47 | 62 | |
ARL6 | - | - |
GRCh38 GRCh37 |
253 | 277 | |
ATG3 | - | - |
GRCh38 GRCh37 |
11 | 41 | |
ATP6V1A | - | - |
GRCh38 GRCh37 |
285 | 316 | |
BBX | - | - | - |
GRCh38 GRCh37 |
58 | 76 |
BOC | - | - |
GRCh38 GRCh37 |
96 | 125 |
There are 389 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Feb 20, 2012 | RCV000138186.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024