ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3
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 | |||
HNRNPK | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
156 | 267 | |
PTCH1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4006 | 5211 | |
TGFBR1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
986 | 1063 | |
GALNT12 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1370 | 1478 | |
PHF2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
98 | 133 | |
CENPP | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
19 | 173 | |
ROR2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
678 | 718 | |
ABCA1 | - | - |
GRCh38 GRCh37 |
1160 | 1476 | |
ABHD17B | - | - |
GRCh38 GRCh37 |
8 | 52 | |
ADIPINT | - | - | - | GRCh38 | - | 13 |
There are 1064 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 30, 2010 | RCV000136788.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024