ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3
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 | |||
POLR1D | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
72 | 118 | |
ATP8A2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
444 | 483 | |
GJB2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
556 | 617 | |
TEX26 | - | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
17 | 57 |
GJB6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
191 | 270 | |
ALOX5AP | - | - |
GRCh38 GRCh37 |
7 | 52 | |
AMER2 | - | - |
GRCh38 GRCh37 |
29 | 65 | |
ATP12A | - | - |
GRCh38 GRCh37 |
44 | 96 | |
C1QTNF9 | - | - |
GRCh38 GRCh37 |
23 | 96 | |
C1QTNF9B | - | - |
GRCh38 GRCh37 |
10 | 99 |
There are 407 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053729.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023