ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1
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 | |||
EMX2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
16 | 67 | |
TCF7L2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
143 | 175 | |
SHOC2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
508 | 546 | |
ABLIM1 | - | - |
GRCh38 GRCh37 |
63 | 95 | |
ACSL5 | - | - |
GRCh38 GRCh37 |
36 | 76 | |
ADD3 | - | - |
GRCh38 GRCh37 |
186 | 216 | |
ADD3-AS1 | - | - | - | GRCh38 | - | 7 |
ADRA2A | - | - |
GRCh38 GRCh37 |
38 | 68 | |
ADRB1 | - | - |
GRCh38 GRCh37 |
40 | 69 | |
AFAP1L2 | - | - |
GRCh38 GRCh37 |
71 | 139 |
There are 300 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 12, 2011 | RCV000052570.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024