ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)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 | |||
C1GALT1 | - | - |
GRCh38 GRCh37 |
27 | 69 | |
CCZ1B | - | - | - |
GRCh38 GRCh37 |
26 | 63 |
COL28A1 | - | - |
GRCh38 GRCh37 |
76 | 118 | |
CYTH3 | - | - |
GRCh38 GRCh37 |
12 | 68 | |
DAGLB | - | - |
GRCh38 GRCh37 |
72 | 125 | |
FAM220A | - | - |
GRCh38 GRCh37 |
- | 63 | |
GLCCI1 | - | - |
GRCh38 GRCh37 |
24 | 80 | |
GLCCI1-DT | - | - | - | GRCh38 | - | 14 |
GRID2IP | - | - |
GRCh38 GRCh37 |
113 | 169 | |
ICA1 | - | - |
GRCh38 GRCh37 |
39 | 80 |
There are 123 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050923.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024