ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q22.33(chr9:100953443-102003384)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
TGFBR1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
986 | 1063 | |
GALNT12 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1370 | 1478 | |
ALG2 | - | - |
GRCh38 GRCh37 |
324 | 364 | |
ANKS6 | - | - |
GRCh38 GRCh37 |
373 | 430 | |
COL15A1 | - | - |
GRCh38 GRCh37 |
163 | 198 | |
CORO2A | - | - |
GRCh38 GRCh37 |
43 | 84 | |
GABBR2 | - | - |
GRCh38 GRCh37 |
928 | 1011 | |
SEC61B | - | - |
GRCh38 GRCh37 |
9 | 46 | |
TBC1D2 | - | - |
GRCh38 GRCh37 |
80 | 119 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 11, 2019 | RCV001006249.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023