ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q32.1(chr1:200144603-203112078)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 | |||
KDM5B | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
267 | 299 | |
CACNA1S | No evidence available | No evidence available |
GRCh38 GRCh37 |
2667 | 2696 | |
TNNT2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
954 | 973 | |
ADIPOR1 | - | - |
GRCh38 GRCh37 |
160 | 177 | |
ARL8A | - | - |
GRCh38 GRCh37 |
4 | 21 | |
ASCL5 | - | - |
GRCh38 GRCh37 |
- | 18 | |
CAMSAP2 | - | - |
GRCh38 GRCh37 |
54 | 74 | |
CSRP1 | - | - |
GRCh38 GRCh37 |
17 | 36 | |
CSRP1-AS1 | - | - | - | GRCh38 | - | 3 |
CYB5R1 | - | - |
GRCh38 GRCh37 |
15 | 32 |
There are 158 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) |
|
Aug 2, 2013 | RCV000133625.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024