ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3
Germline
Classification
(1)
Likely 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 | |||
HNF1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
886 | 972 | |
POLE | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9004 | 9214 | |
AACS | - | - |
GRCh38 GRCh37 |
54 | 77 | |
ABCB9 | - | - |
GRCh38 GRCh37 |
55 | 74 | |
ACADS | - | - |
GRCh38 GRCh37 |
436 | 453 | |
ADGRD1 | - | - |
GRCh38 GRCh37 |
41 | 64 | |
ANAPC5 | - | - |
GRCh38 GRCh37 |
21 | 41 | |
ANHX | - | - | - |
GRCh38 GRCh37 |
29 | 32 |
ANKLE2 | - | - |
GRCh38 GRCh37 |
238 | 271 | |
ARL6IP4 | - | - |
GRCh38 GRCh37 |
38 | 57 |
There are 127 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 1, 2021 | RCV001801213.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024