ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p11.2-q12(chr6:57466921-68712228)x3
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 | |||
PHF3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
127 | 674 | |
ADGRB3 | - | - |
GRCh38 GRCh37 |
61 | 72 | |
ADGRB3-DT | - | - | - | GRCh38 | - | 2 |
ERVH-3 | - | - | - | GRCh37 | 1 | 10 |
EYS | - | - |
GRCh38 GRCh37 |
4129 | 4683 | |
FKBP1C | - | - | - | GRCh38 | - | 3 |
KHDRBS2 | - | - |
GRCh38 GRCh37 |
37 | 58 | |
LGSN | - | - |
GRCh38 GRCh37 |
36 | 45 | |
LINC00680 | - | - | - | GRCh38 | - | 7 |
LINC02549 | - | - | - | GRCh38 | - | 2 |
There are 97 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) |
|
Jan 3, 2012 | RCV000138052.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024