ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)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 | |||
TAB2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
153 | 319 | |
AKAP12 | - | - |
GRCh38 GRCh37 |
122 | 142 | |
ARMT1 | - | - |
GRCh38 GRCh37 |
26 | 45 | |
CCDC170 | - | - | - |
GRCh38 GRCh37 |
53 | 72 |
ESR1 | - | - |
GRCh38 GRCh37 |
111 | 210 | |
FBXO5 | - | - |
GRCh38 GRCh37 |
23 | 46 | |
GINM1 | - | - | - |
GRCh38 GRCh37 |
17 | 37 |
IYD | - | - |
GRCh38 GRCh37 |
80 | 95 | |
KATNA1 | - | - |
GRCh38 GRCh37 |
24 | 42 | |
LATS1 | - | - |
GRCh38 GRCh37 |
43 | 59 |
There are 23 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) |
|
Aug 7, 2018 | RCV001005856.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023