ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)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 | |||
NBEA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
472 | 549 | |
RB1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3553 | 3705 | |
CBY2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
40 | 95 | |
AKAP11 | - | - |
GRCh38 GRCh37 |
103 | 161 | |
ALG11 | - | - |
GRCh38 GRCh37 |
74 | 267 | |
ALG5 | - | - |
GRCh38 GRCh37 |
26 | 77 | |
ARL11 | - | - |
GRCh38 GRCh37 |
16 | 85 | |
ATP7B | - | - |
GRCh38 GRCh37 |
2875 | 3017 | |
CAB39L | - | - |
GRCh38 GRCh37 |
21 | 86 | |
CCDC122 | - | - |
GRCh38 GRCh37 |
8 | 58 |
There are 111 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 1, 2024 | RCV003885457.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024