ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q24.31(chr12:122614468-123019270)x3
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 | |||
B3GNT4 | - | - |
GRCh38 GRCh37 |
34 | 91 | |
CLIP1 | - | - |
GRCh38 GRCh37 |
129 | 159 | |
DIABLO | - | - |
GRCh38 GRCh37 |
69 | 153 | |
IL31 | - | - |
GRCh38 GRCh37 |
- | 43 | |
KNTC1 | - | - |
GRCh38 GRCh37 |
96 | 119 | |
LRRC43 | - | - | - |
GRCh38 GRCh37 |
40 | 94 |
MLXIP | - | - |
GRCh38 GRCh38 GRCh37 |
11 | 46 | |
RSRC2 | - | - |
GRCh38 GRCh37 |
12 | 38 | |
VPS33A | - | - |
GRCh38 GRCh37 |
282 | 312 | |
ZCCHC8 | - | - |
GRCh38 GRCh37 |
344 | 377 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
- | RCV000446468.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024