ClinVar Genomic variation as it relates to human health
NC_000010.11:g.(102444036_?)_(?_104726221)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 | |||
ACTR1A | - | - |
GRCh38 GRCh37 |
5 | 25 | |
ARL3 | - | - |
GRCh38 GRCh37 |
131 | 153 | |
AS3MT | - | - |
GRCh38 GRCh37 |
- | 37 | |
ATP5MK | - | - |
GRCh38 GRCh37 |
7 | 34 | |
BORCS7 | - | - |
GRCh38 GRCh37 |
- | 24 | |
BORCS7-ASMT | - | - | - | GRCh38 | - | 25 |
C10orf95 | - | - | - |
GRCh38 GRCh37 |
- | 23 |
C10orf95-AS1 | - | - | - | GRCh38 | - | 8 |
CALHM1 | - | - |
GRCh38 GRCh37 |
30 | 57 | |
CALHM2 | - | - |
GRCh38 GRCh37 |
30 | 57 |
There are 127 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 1, 2002 | RCV000003754.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024
NCBI staff provided an HGVS expression for OMIM allelic variant 607035.0004 from the placement of the retained sequence in the clones RP11-346A7 and RP11-137O18 on the GRCh38 assembly.