ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1
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 | |||
FH | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1967 | 2051 | |
ZBTB18 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
238 | 328 | |
HNRNPU | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
930 | 1053 | |
AKT3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
172 | 337 | |
CHRM3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
76 | 147 | |
RYR2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
7382 | 8022 | |
ACTN2 | - | - |
GRCh38 GRCh37 |
1479 | 1539 | |
ADSS2 | - | - |
GRCh38 GRCh37 |
14 | 114 | |
AHCTF1 | - | - |
GRCh38 GRCh37 |
116 | 209 | |
AKT3-IT1 | - | - | - |
GRCh38 GRCh38 |
- | 49 |
There are 262 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) |
|
Aug 24, 2023 | RCV003327725.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024