ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3
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 | |||
NIPBL | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
1744 | 1795 | |
FGF10 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
76 | 105 | |
TRIO | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1217 | 1394 | |
DNAJC21 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
329 | 386 | |
ANKH | No evidence available | No evidence available |
GRCh38 GRCh37 |
207 | 556 | |
ADAMTS12 | - | - |
GRCh38 GRCh38 GRCh37 |
79 | 141 | |
AGXT2 | - | - |
GRCh38 GRCh37 |
42 | 69 | |
AMACR | - | - |
GRCh38 GRCh37 |
2 | 435 | |
ANXA2R | - | - |
GRCh38 GRCh37 |
- | 39 | |
BASP1 | - | - |
GRCh38 GRCh37 |
22 | 98 |
There are 81 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 20, 2016 | RCV000239779.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022