ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
SHANK2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
408 | 422 | |
ACTE1P | - | - | - | GRCh38 | - | 2 |
ANAPC15 | - | - |
GRCh38 GRCh37 |
- | 114 | |
CLPB | - | - |
GRCh38 GRCh37 |
553 | 715 | |
DEFB108B | - | - | - |
GRCh38 GRCh37 |
- | 15 |
DEFB131B | - | - | - | GRCh38 | - | 2 |
DHCR7 | - | - |
GRCh38 GRCh37 |
938 | 953 | |
DHCR7-DT | - | - | - | GRCh38 | - | 4 |
FAM86C1P | - | - |
GRCh38 GRCh37 |
16 | 25 | |
FOLR1 | - | - |
GRCh38 GRCh37 |
260 | 274 |
There are 59 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000051910.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024