ClinVar Genomic variation as it relates to human health
NC_000016.10:g.(?_15703134)_(16223472_?)del
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 | |||
MYH11 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
1988 | 3711 | |
ABCC1 | - | - |
GRCh38 GRCh38 GRCh37 |
112 | 461 | |
ABCC6 | - | - |
GRCh38 GRCh38 GRCh37 |
1441 | 1798 | |
CEP20 | - | - |
GRCh38 GRCh38 GRCh37 |
3 | 351 | |
LOC112340382 | - | - | - |
GRCh38 GRCh38 |
- | 136 |
LOC113939949 | - | - | - |
GRCh38 GRCh38 |
- | 142 |
LOC121587532 | - | - | - |
GRCh38 GRCh38 |
- | 137 |
LOC125146420 | - | - | - |
GRCh38 GRCh38 |
- | 134 |
LOC125146421 | - | - | - |
GRCh38 GRCh38 |
- | 146 |
LOC126862300 | - | - | - |
GRCh38 GRCh38 |
2 | 138 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 1, 2006 | RCV000006946.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024
Description based on statement in PMID 10835643: a family of sporadic PXE (sPXE) cases in which abnormal segregation of markers suggested the presence of a large deletion encompassing ABCC1, ABCC6 and MYH11 (P-06; Fig. 2)