ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q34.3(chr9:137092629-137375788)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
ANAPC2 | - | - |
GRCh38 GRCh37 |
38 | 138 | |
CIMIP2A | - | - | - |
GRCh38 GRCh37 |
54 | 156 |
CYSRT1 | - | - | - |
GRCh38 GRCh37 |
19 | 118 |
DPP7 | - | - |
GRCh38 GRCh37 |
45 | 155 | |
EXD3 | - | - | - |
GRCh38 GRCh37 |
114 | 221 |
GRIN1 | - | - |
GRCh38 GRCh37 |
1040 | 1140 | |
LOC108281114 | - | - | - | GRCh38 | - | 61 |
LOC122513141 | - | - | - | GRCh38 | - | 62 |
LOC124375250 | - | - | - | GRCh38 | - | 59 |
LOC124375251 | - | - | - | GRCh38 | - | 62 |
There are 52 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
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000052887.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024