ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)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 | |||
TGFBR1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
990 | 1067 | |
ZNF462 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
416 | 491 | |
ABCA1 | - | - |
GRCh38 GRCh37 |
1162 | 1479 | |
ABITRAM | - | - |
GRCh38 GRCh37 |
11 | 60 | |
ACTL7A | - | - |
GRCh38 GRCh37 |
44 | 84 | |
ACTL7B | - | - |
GRCh38 GRCh37 |
45 | 84 | |
AKNA | - | - |
GRCh38 GRCh37 |
129 | 183 | |
ALAD | - | - |
GRCh38 GRCh37 |
181 | 225 | |
ALDOB | - | - |
GRCh38 GRCh37 |
520 | 560 | |
ALG2 | - | - |
GRCh38 GRCh37 |
324 | 364 |
There are 506 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 | RCV000148264.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024