ClinVar Genomic variation as it relates to human health
NC_000011.9:g.104288964_134937416dup
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 | |||
ARCN1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
209 | 247 | |
ATM | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10314 | 16610 | |
HMBS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
586 | 630 | |
KMT2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2537 | 2742 | |
SDHD | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
648 | 786 | |
CBL | No evidence available | No evidence available |
GRCh38 GRCh37 |
1424 | 1573 | |
CHEK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
65 | 148 | |
AASDHPPT | - | - |
GRCh38 GRCh37 |
19 | 45 | |
ABCG4 | - | - |
GRCh38 GRCh37 |
22 | 58 | |
ACAD8 | - | - |
GRCh38 GRCh37 |
259 | 360 |
There are 251 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) |
|
- | RCV001250234.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023