ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)
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 |
379 | 416 | |
SIM1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
187 | 273 | |
AFG1L | - | - |
GRCh38 GRCh37 |
29 | 54 | |
AK9 | - | - |
GRCh38 GRCh37 |
83 | 138 | |
AKIRIN2 | - | - |
GRCh38 GRCh37 |
5 | 26 | |
AMD1 | - | - |
GRCh38 GRCh37 |
7 | 41 | |
ANKRD6 | - | - |
GRCh38 GRCh37 |
69 | 99 | |
ARMC2 | - | - |
GRCh38 GRCh37 |
57 | 98 | |
ASCC3 | - | - |
GRCh38 GRCh37 |
157 | 185 | |
ASF1A | - | - |
GRCh38 GRCh37 |
- | 36 |
There are 130 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 | RCV002053595.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023