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 |
213 | 251 | |
YTHDC1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
29 | 55 | |
HTN3 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh38 GRCh37 |
5 | 36 | |
ADAMTS3 | - | - |
GRCh38 GRCh37 |
130 | 157 | |
AFM | - | - |
GRCh38 GRCh37 |
46 | 70 | |
AFP | - | - |
GRCh38 GRCh37 |
42 | 73 | |
ALB | - | - |
GRCh38 GRCh37 |
170 | 196 | |
AMBN | - | - |
GRCh38 GRCh37 |
54 | 83 | |
AMTN | - | - |
GRCh38 GRCh37 |
18 | 46 | |
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 |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Oct 10, 2011 | RCV000137622.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024