ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)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 | |||
CDC73 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1514 | 1562 | |
IRF6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
318 | 339 | |
KDM5B | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
244 | 273 | |
CACNA1S | No evidence available | No evidence available |
GRCh38 GRCh37 |
2646 | 2676 | |
DISP1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
313 | 346 | |
KCNH1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
702 | 726 | |
TNNT2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
946 | 964 | |
ADIPOR1 | - | - |
GRCh38 GRCh37 |
157 | 173 | |
ADORA1 | - | - |
GRCh38 GRCh37 |
20 | 36 | |
AIDA | - | - |
GRCh38 GRCh37 |
8 | 39 |
There are 1139 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051857.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023