ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:85880-1875694)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 | |||
TPSD1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
40 | 103 | |
SOX8 | No evidence available | No evidence available |
GRCh38 GRCh37 |
75 | 139 | |
ANTKMT | - | - |
GRCh38 GRCh37 |
26 | 95 | |
ARHGDIG | - | - |
GRCh38 GRCh37 |
22 | 88 | |
AXIN1 | - | - |
GRCh38 GRCh37 |
96 | 168 | |
BAIAP3 | - | - |
GRCh38 GRCh37 |
150 | 210 | |
C16orf91 | - | - | - |
GRCh38 GRCh37 |
- | 4 |
C1QTNF8 | - | - |
GRCh38 GRCh37 |
22 | 84 | |
CACNA1H | - | - |
GRCh38 GRCh37 |
3465 | 3529 | |
CAPN15 | - | - |
GRCh38 GRCh38 GRCh37 |
212 | 281 |
There are 67 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 12, 2018 | RCV000683741.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022