ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1
Germline
Classification
(1)
Likely 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 | |||
ANKRD17 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
177 | 212 | |
YTHDC1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
21 | 47 | |
HTN3 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh38 GRCh37 |
3 | 34 | |
ADAMTS3 | - | - |
GRCh38 GRCh37 |
96 | 123 | |
AFM | - | - |
GRCh38 GRCh37 |
36 | 60 | |
AFP | - | - |
GRCh38 GRCh37 |
32 | 62 | |
ALB | - | - |
GRCh38 GRCh37 |
166 | 192 | |
AMBN | - | - |
GRCh38 GRCh37 |
47 | 76 | |
AMTN | - | - |
GRCh38 GRCh37 |
17 | 45 | |
ANKRD17-DT | - | - | - | GRCh38 | - | 7 |
There are 113 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Oct 10, 2011 | RCV000137622.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023