ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)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 | |||
NAA15 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
371 | 415 | |
ABCE1 | - | - |
GRCh38 GRCh37 |
12 | 42 | |
ABHD18 | - | - | - |
GRCh38 GRCh37 |
16 | 61 |
ADAD1 | - | - |
GRCh38 GRCh37 |
19 | 42 | |
AFG2A | - | - |
GRCh38 GRCh37 |
759 | 786 | |
ANAPC10 | - | - |
GRCh38 GRCh37 |
10 | 42 | |
ANKRD50 | - | - |
GRCh38 GRCh37 |
62 | 89 | |
ANXA5 | - | - |
GRCh38 GRCh37 |
24 | 56 | |
BBS12 | - | - |
GRCh38 GRCh37 |
726 | 752 | |
BBS7 | - | - |
GRCh38 GRCh37 |
672 | 712 |
There are 412 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) |
|
Aug 12, 2011 | RCV000053321.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024