ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.22(chr1:10317912-11018880)x4
Germline
Classification
(1)
Uncertain significance
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 | |||
CASZ1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
391 | 439 | |
TARDBP | No evidence available | No evidence available |
GRCh38 GRCh37 |
238 | 345 | |
C1orf127 | - | - |
GRCh38 GRCh37 |
9 | 55 | |
CENPS | - | - |
GRCh38 GRCh37 |
- | 45 | |
CENPS-CORT | - | - | - |
GRCh38 GRCh37 |
- | 50 |
CORT | - | - |
GRCh38 GRCh37 |
- | 46 | |
DFFA | - | - |
GRCh38 GRCh37 |
24 | 66 | |
KIF1B | - | - |
GRCh38 GRCh37 |
2690 | 2967 | |
LOC110120623 | - | - | - | GRCh38 | - | 20 |
LOC110120648 | - | - | - | GRCh38 | - | 21 |
There are 40 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 27, 2013 | RCV000141822.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024