ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q21.31(chr12:80647969-85713707)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 | |||
ACSS3 | - | - |
GRCh38 GRCh37 |
45 | 61 | |
ALX1 | - | - |
GRCh38 GRCh37 |
32 | 57 | |
CCDC59 | - | - |
GRCh38 GRCh37 |
16 | 41 | |
LIN7A | - | - |
GRCh38 GRCh37 |
13 | 35 | |
LRRIQ1 | - | - | - |
GRCh38 GRCh37 |
125 | 141 |
METTL25 | - | - | - |
GRCh38 GRCh37 |
38 | 63 |
MYF5 | - | - |
GRCh38 GRCh37 |
25 | 46 | |
MYF6 | - | - |
GRCh38 GRCh37 |
64 | 86 | |
OTOGL | - | - |
GRCh38 GRCh37 |
944 | 964 | |
PPFIA2 | - | - |
GRCh38 GRCh37 |
61 | 79 |
There are 4 more genes 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 3, 2022 | RCV003483158.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024