ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.33-36.32(chr1:2190850-3503606)x1
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 | |||
SKI | No evidence available | No evidence available |
GRCh38 GRCh37 |
1089 | 1236 | |
ACTRT2 | - | - |
GRCh38 GRCh37 |
30 | 170 | |
ARHGEF16 | - | - |
GRCh38 GRCh37 |
68 | 182 | |
HES5 | - | - |
GRCh38 GRCh38 GRCh37 |
15 | 149 | |
MEGF6 | - | - |
GRCh38 GRCh37 |
181 | 296 | |
MIR551A | - | - |
GRCh38 GRCh37 |
- | 111 | |
MMEL1 | - | - |
GRCh38 GRCh38 GRCh37 |
67 | 215 | |
MORN1 | - | - | - |
GRCh38 GRCh37 |
49 | 199 |
PANK4 | - | - |
GRCh38 GRCh38 GRCh37 |
50 | 186 | |
PEX10 | - | - |
GRCh38 GRCh37 |
766 | 929 |
There are 6 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) |
|
Jul 25, 2017 | RCV000684537.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023