ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q13.3-13.4(chr11:69214835-70821137)x1
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 | |||
SHANK2 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
356 | 370 | |
ANO1 | - | - |
GRCh38 GRCh37 |
69 | 80 | |
CCND1 | - | - |
GRCh38 GRCh37 |
23 | 33 | |
CTTN | - | - |
GRCh38 GRCh38 GRCh37 |
47 | 62 | |
FADD | - | - |
GRCh38 GRCh37 |
106 | 130 | |
FGF19 | - | - |
GRCh38 GRCh37 |
3 | 20 | |
FGF3 | - | - |
GRCh38 GRCh37 |
80 | 120 | |
FGF4 | - | - |
GRCh38 GRCh37 |
15 | 26 | |
LTO1 | - | - |
GRCh38 GRCh37 |
15 | 24 | |
PPFIA1 | - | - |
GRCh38 GRCh38 GRCh37 |
76 | 125 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 8, 2020 | RCV001834393.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 17, 2022