ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_44001278)_(45236249_?)del
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 | |||
SIX3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
194 | 221 | |
ABCG5 | - | - |
GRCh38 GRCh37 |
181 | 744 | |
ABCG8 | - | - |
GRCh38 GRCh37 |
744 | 810 | |
CAMKMT | - | - |
GRCh38 GRCh37 |
24 | 57 | |
DYNC2LI1 | - | - |
GRCh38 GRCh37 |
168 | 689 | |
LRPPRC | - | - |
GRCh38 GRCh37 |
1991 | 2042 | |
PPM1B | - | - |
GRCh38 GRCh37 |
36 | 55 | |
PREPL | - | - |
GRCh38 GRCh37 |
619 | 804 | |
SIX2 | - | - |
GRCh38 GRCh37 |
68 | 87 | |
SLC3A1 | - | - |
GRCh38 GRCh37 |
335 | 520 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 10, 2023 | RCV004582516.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024