ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q27(chr6:166517762-170919470)
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 | |||
DLL1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
417 | 581 | |
ERMARD | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
275 | 353 | |
UNC93A | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
34 | 93 | |
AFDN | - | - |
GRCh38 GRCh37 |
18 | 86 | |
C6orf120 | - | - |
GRCh38 GRCh37 |
- | 83 | |
CCR6 | - | - |
GRCh38 GRCh37 |
13 | 65 | |
CEP43 | - | - |
GRCh38 GRCh37 |
28 | 88 | |
DACT2 | - | - |
GRCh38 GRCh37 |
72 | 142 | |
DYNLT2 | - | - |
GRCh38 GRCh38 GRCh37 |
11 | 87 | |
FAM120B | - | - |
GRCh38 GRCh38 GRCh37 |
44 | 134 |
There are 18 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) |
|
Nov 1, 2018 | RCV000767664.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023