ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)
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 | |||
KMT2E | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
883 | 915 | |
CYP3A43 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
26 | 53 | |
IMMP2L | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
30 | 114 | |
ACHE | - | - |
GRCh38 GRCh37 |
31 | 55 | |
ACTL6B | - | - |
GRCh38 GRCh37 |
114 | 140 | |
AGFG2 | - | - |
GRCh38 GRCh37 |
26 | 52 | |
ALKBH4 | - | - |
GRCh38 GRCh37 |
29 | 51 | |
AP1S1 | - | - |
GRCh38 GRCh37 |
56 | 162 | |
AP4M1 | - | - |
GRCh38 GRCh37 |
402 | 488 | |
ARMC10 | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 42 |
There are 115 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) |
|
Mar 1, 2022 | RCV002053711.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022