ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3
Germline
Classification
(1)
Likely 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 | |||
KDM5B | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
260 | 291 | |
CACNA1S | No evidence available | No evidence available |
GRCh38 GRCh37 |
2658 | 2686 | |
TNNT2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
954 | 972 | |
ADIPOR1 | - | - |
GRCh38 GRCh37 |
158 | 174 | |
ADORA1 | - | - |
GRCh38 GRCh37 |
23 | 39 | |
ARL8A | - | - |
GRCh38 GRCh37 |
4 | 20 | |
ASCL5 | - | - | - |
GRCh38 GRCh37 |
- | 17 |
ATP2B4 | - | - |
GRCh38 GRCh37 |
184 | 200 | |
BTG2 | - | - |
GRCh38 GRCh37 |
5 | 19 | |
CAMSAP2 | - | - |
GRCh38 GRCh37 |
54 | 73 |
There are 50 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV003986684.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024