ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)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 | |||
ANKRD17 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
199 | 236 | |
KIT | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2837 | 2863 | |
YTHDC1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
26 | 52 | |
HTN3 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh38 GRCh37 |
5 | 36 | |
AASDH | - | - |
GRCh38 GRCh37 |
57 | 79 | |
ADAMTS3 | - | - |
GRCh38 GRCh37 |
122 | 149 | |
ADGRL3 | - | - |
GRCh38 GRCh37 |
55 | 73 | |
ADGRL3-AS1 | - | - | - | GRCh38 | - | 8 |
AFM | - | - |
GRCh38 GRCh37 |
43 | 67 | |
AFP | - | - |
GRCh38 GRCh37 |
38 | 68 |
There are 352 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV001420508.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024