ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3
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 | |||
IRF6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
320 | 342 | |
WDR26 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
165 | 210 | |
KDM5B | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
271 | 303 | |
CACNA1S | No evidence available | No evidence available |
GRCh38 GRCh37 |
2669 | 2698 | |
DISP1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
326 | 360 | |
TNNT2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
956 | 975 | |
ACBD3 | - | - |
GRCh38 GRCh37 |
8 | 58 | |
ADIPOR1 | - | - |
GRCh38 GRCh37 |
160 | 177 | |
ADORA1 | - | - |
GRCh38 GRCh37 |
23 | 40 | |
AIDA | - | - |
GRCh38 GRCh37 |
9 | 41 |
There are 234 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 20, 2016 | RCV000240137.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023