ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.3(chr17:2161424-2825460)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 | |||
PAFAH1B1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
521 | 604 | |
CLUH | - | - |
GRCh38 GRCh37 |
92 | 161 | |
METTL16 | - | - | - |
GRCh38 GRCh37 |
22 | 99 |
MNT | - | - |
GRCh38 GRCh37 |
21 | 86 | |
RAP1GAP2 | - | - |
GRCh38 GRCh37 |
37 | 113 | |
SGSM2 | - | - |
GRCh38 GRCh37 |
75 | 144 | |
SMG6 | - | - |
GRCh38 GRCh37 |
96 | 182 | |
SRR | - | - |
GRCh38 GRCh37 |
8 | 100 | |
TSR1 | - | - |
GRCh38 GRCh37 |
46 | 135 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 20, 2021 | RCV002472617.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022