ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)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 | |||
TGFBR1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
975 | 1052 | |
ZNF462 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
361 | 430 | |
ABCA1 | - | - |
GRCh38 GRCh37 |
1131 | 1442 | |
ABITRAM | - | - |
GRCh38 GRCh37 |
10 | 58 | |
ACTL7A | - | - |
GRCh38 GRCh37 |
39 | 79 | |
ACTL7B | - | - |
GRCh38 GRCh37 |
35 | 74 | |
ALDOB | - | - |
GRCh38 GRCh37 |
506 | 545 | |
ALG2 | - | - |
GRCh38 GRCh37 |
320 | 360 | |
BAAT | - | - |
GRCh38 GRCh38 GRCh37 |
167 | 204 | |
CAVIN4 | - | - |
GRCh38 GRCh37 |
91 | 126 |
There are 245 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 2, 2012 | RCV000138281.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024