ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q24.3(chr16:89620873-89881041)
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 | |||
CDK10 | - | - |
GRCh38 GRCh37 |
83 | 159 | |
CHMP1A | - | - |
GRCh38 GRCh37 |
198 | 274 | |
CPNE7 | - | - |
GRCh38 GRCh37 |
66 | 137 | |
DPEP1 | - | - |
GRCh38 GRCh37 |
19 | 92 | |
FANCA | - | - |
GRCh38 GRCh37 |
4078 | 5204 | |
RPL13 | - | - |
GRCh38 GRCh37 |
25 | 93 | |
SPATA2L | - | - | - |
GRCh38 GRCh37 |
33 | 100 |
SPATA33 | - | - |
GRCh38 GRCh37 |
16 | 91 | |
SPG7 | - | - |
GRCh38 GRCh37 |
915 | 1076 | |
VPS9D1 | - | - |
GRCh38 GRCh37 |
30 | 111 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV001535965.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024