ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)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 | |||
ABCB4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
896 | 949 | |
SGCE | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
66 | 656 | |
SEMA3A | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
223 | 255 | |
COL1A2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2062 | 2085 | |
PEG10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
17 | 36 | |
PPP1R9A | No evidence available | No evidence available |
GRCh38 GRCh37 |
75 | 118 | |
ABCB1 | - | - |
GRCh38 GRCh37 |
634 | 702 | |
ADAM22 | - | - |
GRCh38 GRCh37 |
85 | 110 | |
AKAP9 | - | - |
GRCh38 GRCh37 |
2700 | 2790 | |
ANKIB1 | - | - |
GRCh38 GRCh37 |
48 | 70 |
There are 219 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 13, 2013 | RCV000143271.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024