ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q21.12-21.2(chr7:87379476-91731873)x1
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 | |||
ABCB4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
891 | 944 | |
ABCB1 | - | - |
GRCh38 GRCh37 |
634 | 702 | |
ADAM22 | - | - |
GRCh38 GRCh37 |
85 | 110 | |
CDK14 | - | - |
GRCh38 GRCh37 |
29 | 50 | |
CFAP69 | - | - |
GRCh38 GRCh37 |
77 | 112 | |
CLDN12 | - | - |
GRCh38 GRCh37 |
5 | 23 | |
CROT | - | - |
GRCh38 GRCh37 |
10 | 50 | |
DBF4 | - | - |
GRCh38 GRCh37 |
27 | 44 | |
FAM237B | - | - | - | GRCh38 | - | 6 |
FZD1 | - | - |
GRCh38 GRCh37 |
25 | 45 |
There are 70 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Apr 4, 2013 | RCV000139869.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024