ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2
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 | |||
EXT1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
987 | 1062 | |
EYA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
532 | 570 | |
NBN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3417 | 3590 | |
RAD21 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
361 | 425 | |
TRPS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
615 | 678 | |
ZFPM2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
69 | 366 | |
IMPA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
29 | 72 | |
KCNK9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
51 | 114 | |
AARD | - | - | - |
GRCh38 GRCh37 |
5 | 67 |
ABRA | - | - |
GRCh38 GRCh37 |
44 | 84 |
There are 327 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV002292707.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023