ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1
Germline
Classification
(1)
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 | |||
EFTUD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
644 | 654 | |
ADAM11 | - | - |
GRCh38 GRCh37 |
31 | 40 | |
ASB16 | - | - |
GRCh38 GRCh37 |
11 | 40 | |
ASB16-AS1 | - | - | - | GRCh38 | - | 25 |
ATXN7L3 | - | - |
GRCh38 GRCh37 |
12 | 21 | |
ATXN7L3-AS1 | - | - | - | GRCh38 | - | 83 |
CCDC43 | - | - | - |
GRCh38 GRCh37 |
10 | 19 |
DBF4B | - | - |
GRCh38 GRCh37 |
21 | 30 | |
FAM171A2 | - | - | - |
GRCh38 GRCh37 |
24 | 33 |
FZD2 | - | - |
GRCh38 GRCh37 |
161 | 169 |
There are 78 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 5, 2011 | RCV000134949.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023