ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q21.31(chr12:80393097-81021534)x1
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 | |||
LIN7A | - | - |
GRCh38 GRCh37 |
13 | 35 | |
LINC01490 | - | - | - | GRCh38 | - | 8 |
LOC121838556 | - | - | - | GRCh38 | - | 8 |
LOC124629419 | - | - | - | GRCh38 | - | 8 |
LOC124629420 | - | - | - | GRCh38 | - | 8 |
LOC126861583 | - | - | - | GRCh38 | - | 8 |
LOC130008331 | - | - | - | GRCh38 | - | 8 |
LOC130008332 | - | - | - | GRCh38 | - | 6 |
MIR617 | - | - | - | GRCh38 | - | 7 |
MIR618 | - | - | - | GRCh38 | - | 6 |
There are 3 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051316.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023