ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q22.31(chr15:64448836-65975439)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 | |||
ANKDD1A | - | - | - |
GRCh38 GRCh37 |
44 | 63 |
CILP | - | - |
GRCh38 GRCh37 |
118 | 133 | |
CLPX | - | - |
GRCh38 GRCh37 |
103 | 118 | |
DENND4A | - | - |
GRCh38 GRCh37 |
59 | 70 | |
DPP8 | - | - |
GRCh38 GRCh37 |
42 | 55 | |
HACD3 | - | - |
GRCh38 GRCh37 |
21 | 32 | |
IGDCC3 | - | - |
GRCh38 GRCh37 |
58 | 73 | |
IGDCC4 | - | - |
GRCh38 GRCh37 |
102 | 116 | |
INTS14 | - | - | - |
GRCh38 GRCh37 |
23 | 39 |
KBTBD13 | - | - |
GRCh38 GRCh37 |
596 | 611 |
There are 89 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052344.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023