ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1
Germline
Classification
(1)
Pathogenic
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 | |||
ELN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
838 | 1158 | |
SEMA3A | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
332 | 364 | |
GNAI1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
79 | 97 | |
GTF2I | No evidence available | No evidence available |
GRCh38 GRCh37 |
1 | 183 | |
GTF2IRD1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
127 | 296 | |
GTF2IRD2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2 | 78 | |
LIMK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
81 | 247 | |
NCF1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
4 | 118 | |
APTR | - | - | GRCh38 | - | 31 | |
CACNA2D1 | - | - |
GRCh38 GRCh37 |
842 | 923 |
There are 241 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) |
|
Aug 12, 2011 | RCV000054118.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023