ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)
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 | |||
NUS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
394 | 431 | |
SIM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
264 | 388 | |
AFG1L | - | - |
GRCh38 GRCh37 |
34 | 61 | |
AK9 | - | - |
GRCh38 GRCh37 |
92 | 152 | |
AMD1 | - | - |
GRCh38 GRCh37 |
8 | 43 | |
ARMC2 | - | - |
GRCh38 GRCh37 |
67 | 112 | |
ASCC3 | - | - |
GRCh38 GRCh37 |
182 | 210 | |
ATG5 | - | - |
GRCh38 GRCh37 |
13 | 38 | |
BEND3 | - | - |
GRCh38 GRCh37 |
42 | 66 | |
BVES | - | - |
GRCh38 GRCh37 |
80 | 102 |
There are 90 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002053598.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024