ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3
Germline
Classification
(1)
Likely 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 | |||
ABI3BP | - | - |
GRCh38 GRCh37 |
62 | 75 | |
ADGRG7 | - | - |
GRCh38 GRCh37 |
63 | 78 | |
ARL13B | - | - |
GRCh38 GRCh37 |
328 | 376 | |
ARL6 | - | - |
GRCh38 GRCh37 |
248 | 272 | |
CEP97 | - | - |
GRCh38 GRCh37 |
211 | 231 | |
CLDND1 | - | - |
GRCh38 GRCh37 |
14 | 27 | |
CMSS1 | - | - | - |
GRCh38 GRCh37 |
13 | 132 |
COL8A1 | - | - |
GRCh38 GRCh37 |
34 | 49 | |
CPOX | - | - |
GRCh38 GRCh37 |
187 | 285 | |
CRYBG3 | - | - |
GRCh38 GRCh37 |
11 | 36 |
There are 163 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jan 25, 2013 | RCV000143259.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024