ClinVar Genomic variation as it relates to human health
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
ARID1B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1807 | 2142 | |
DLL1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
425 | 589 | |
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 | |
IGF2R | No evidence available | No evidence available |
GRCh38 GRCh37 |
150 | 179 | |
ACAT2 | - | - |
GRCh38 GRCh37 |
26 | 58 | |
AFDN | - | - |
GRCh38 GRCh37 |
18 | 86 | |
AGPAT4 | - | - |
GRCh38 GRCh37 |
10 | 45 | |
AIRN | - | - |
GRCh38 GRCh37 |
- | 23 | |
AKAP12 | - | - |
GRCh38 GRCh37 |
122 | 142 |
There are 78 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) |
|
Jan 1, 2018 | RCV000714957.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023