ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p14.1(chr7:38484106-42786613)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 | |||
GLI3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1118 | 1147 | |
CDK13 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
676 | 799 | |
AMPH | - | - |
GRCh38 GRCh37 |
43 | 67 | |
INHBA | - | - |
GRCh38 GRCh37 |
12 | 42 | |
MPLKIP | - | - |
GRCh38 GRCh37 |
116 | 172 | |
POU6F2 | - | - |
GRCh38 GRCh37 |
85 | 114 | |
RALA | - | - |
GRCh38 GRCh37 |
87 | 113 | |
SUGCT | - | - |
GRCh38 GRCh37 |
148 | 193 | |
VPS41 | - | - |
GRCh38 GRCh37 |
108 | 135 | |
YAE1 | - | - | - |
GRCh38 GRCh37 |
12 | 38 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003986704.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024