ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3
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 | |||
CHD7 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3357 | 3565 | |
EYA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
546 | 584 | |
FGFR1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
989 | 1119 | |
KAT6A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1463 | 1520 | |
RB1CC1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
90 | 144 | |
CPA6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
114 | 249 | |
IMPA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
30 | 73 | |
ADAM18 | - | - |
GRCh38 GRCh38 GRCh37 |
39 | 97 | |
ADAM2 | - | - |
GRCh38 GRCh38 GRCh37 |
49 | 107 | |
ADAM32 | - | - |
GRCh38 GRCh38 GRCh37 |
51 | 110 |
There are 232 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) |
|
- | RCV003986754.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024