ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q22.1(chr7:100419914-102482826)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 | |||
ACHE | - | - |
GRCh38 GRCh37 |
34 | 58 | |
ACTL6B | - | - |
GRCh38 GRCh37 |
114 | 140 | |
AGFG2 | - | - |
GRCh38 GRCh37 |
30 | 57 | |
ALKBH4 | - | - |
GRCh38 GRCh37 |
35 | 57 | |
AP1S1 | - | - |
GRCh38 GRCh37 |
56 | 162 | |
CLDN15 | - | - |
GRCh38 GRCh37 |
13 | 37 | |
COL26A1 | - | - |
GRCh38 GRCh37 |
33 | 59 | |
CUX1 | - | - |
GRCh38 GRCh37 |
336 | 371 | |
EMSLR | - | - | GRCh38 | - | 5 | |
EPHB4 | - | - |
GRCh38 GRCh37 |
641 | 793 |
There are 199 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000054155.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023