ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)
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 | |||
TCF7L2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
127 | 159 | |
SHOC2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
493 | 530 | |
ACSL5 | - | - |
GRCh38 GRCh37 |
24 | 58 | |
ACTR1A | - | - |
GRCh38 GRCh37 |
4 | 24 | |
ADD3 | - | - |
GRCh38 GRCh37 |
173 | 203 | |
ADRA2A | - | - |
GRCh38 GRCh37 |
28 | 57 | |
ARL3 | - | - |
GRCh38 GRCh37 |
130 | 152 | |
AS3MT | - | - |
GRCh38 GRCh37 |
- | 34 | |
ATP5MK | - | - |
GRCh38 GRCh37 |
3 | 30 | |
BBIP1 | - | - |
GRCh38 GRCh37 |
80 | 110 |
There are 49 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002052885.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022