ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3
Germline
Classification
(1)
Pathogenic
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 | |||
CDKN1C | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1191 | 1227 | |
KCNQ1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1648 | 2506 | |
KCNQ1OT1 | Little evidence for dosage pathogenicity | Some evidence for dosage pathogenicity |
GRCh38 GRCh37 |
1 | 641 | |
H19 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
2 | 89 | |
IGF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2 | 175 | |
INS | No evidence available | No evidence available |
GRCh38 GRCh37 |
12 | 201 | |
ASCL2 | - | - |
GRCh38 GRCh37 |
9 | 48 | |
C11orf21 | - | - |
GRCh38 GRCh37 |
2 | 49 | |
CD81 | - | - |
GRCh38 GRCh37 |
209 | 274 | |
CD81-AS1 | - | - | - | GRCh38 | - | 27 |
There are 44 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) |
|
Jun 10, 2010 | RCV000136112.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023