ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18p11.31-11.23(chr18:3532742-7487522)
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 | |||
AKAIN1 | - | - |
GRCh38 GRCh37 |
4 | 126 | |
ARHGAP28 | - | - |
GRCh38 GRCh37 |
36 | 163 | |
DLGAP1 | - | - |
GRCh38 GRCh37 |
57 | 227 | |
DLGAP1-AS2 | - | - | - |
GRCh38 GRCh37 |
- | 131 |
EPB41L3 | - | - |
GRCh38 GRCh37 |
69 | 192 | |
L3MBTL4 | - | - |
GRCh38 GRCh37 |
36 | 161 | |
LAMA1 | - | - |
GRCh38 GRCh37 |
1237 | 1446 | |
LRRC30 | - | - | - |
GRCh38 GRCh37 |
33 | 169 |
TMEM200C | - | - | - |
GRCh38 GRCh37 |
- | 119 |
ZBTB14 | - | - |
GRCh38 GRCh37 |
12 | 130 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002052618.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022