ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q13.2-13.4(chr11:67799160-70701268)x1
Germline
Classification
(1)
Likely 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 | |||
LRP5 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2035 | 2052 | |
SHANK2 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
347 | 361 | |
ANO1 | - | - |
GRCh38 GRCh37 |
53 | 64 | |
C11orf24 | - | - |
GRCh38 GRCh37 |
4 | 19 | |
CCND1 | - | - |
GRCh38 GRCh37 |
21 | 31 | |
CHKA | - | - |
GRCh38 GRCh37 |
24 | 39 | |
CPT1A | - | - |
GRCh38 GRCh37 |
959 | 1039 | |
CTTN | - | - |
GRCh38 GRCh38 GRCh37 |
40 | 55 | |
FADD | - | - |
GRCh38 GRCh37 |
106 | 130 | |
FGF19 | - | - |
GRCh38 GRCh37 |
2 | 18 |
There are 16 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Feb 24, 2015 | RCV000510219.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022