ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q13(chr2:111400705-113111856)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
BCL2L11 | No evidence available | No evidence available |
GRCh38 GRCh37 |
15 | 78 | |
ACOXL | - | - | - |
GRCh38 GRCh37 |
37 | 106 |
ANAPC1 | - | - |
GRCh38 GRCh37 |
118 | 194 | |
BUB1 | - | - |
GRCh38 GRCh37 |
1195 | 1255 | |
FBLN7 | - | - |
GRCh38 GRCh37 |
31 | 103 | |
MERTK | - | - |
GRCh38 GRCh37 |
760 | 884 | |
TMEM87B | - | - |
GRCh38 GRCh37 |
37 | 111 | |
ZC3H6 | - | - | - |
GRCh38 GRCh37 |
54 | 114 |
ZC3H8 | - | - | - |
GRCh38 GRCh37 |
- | 70 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Feb 1, 2016 | RCV000512586.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024