ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)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 | |||
AUTS2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
997 | 1064 | |
ELN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
817 | 1137 | |
GTF2I | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | - | |
GTF2IRD1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
119 | 288 | |
GTF2IRD2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2 | 78 | |
LIMK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
76 | 242 | |
NCF1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
4 | 117 | |
ABHD11 | - | - | - |
GRCh38 GRCh37 |
28 | 189 |
ABHD11-AS1 | - | - |
GRCh38 GRCh37 |
- | 160 | |
ASL | - | - |
GRCh38 GRCh37 |
855 | 891 |
There are 341 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
|
Pathogenic (1) |
|
Mar 10, 2014 | RCV000142242.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024