ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)
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 | |||
ARID2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
330 | 360 | |
COL2A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2813 | 2824 | |
KMT2D | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
5271 | 5483 | |
TUBA1A | No evidence available | No evidence available |
GRCh38 GRCh37 |
355 | 366 | |
ABCD2 | - | - |
GRCh38 GRCh37 |
31 | 52 | |
ADAMTS20 | - | - |
GRCh38 GRCh37 |
110 | 123 | |
ADCY6 | - | - |
GRCh38 GRCh37 |
107 | 134 | |
ALG10B | - | - |
GRCh38 GRCh37 |
33 | 50 | |
AMIGO2 | - | - |
GRCh38 GRCh37 |
29 | 40 | |
ANO6 | - | - |
GRCh38 GRCh37 |
244 | 259 |
There are 64 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002052988.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023