Warning:
The NCBI web site requires JavaScript to function.
more...
ClinVar
Search database
ClinVar
All Databases
Assembly
Biocollections
BioProject
BioSample
Books
ClinVar
Conserved Domains
dbGaP
dbVar
Gene
Genome
GEO DataSets
GEO Profiles
GTR
Identical Protein Groups
MedGen
MeSH
NLM Catalog
Nucleotide
OMIM
PMC
PopSet
Protein
Protein Clusters
Protein Family Models
PubChem BioAssay
PubChem Compound
PubChem Substance
PubMed
SNP
SRA
Structure
Taxonomy
ToolKit
ToolKitAll
ToolKitBookgh
Search term
Search
Create alert
Advanced
Help
Home
About
Introduction
Data authorities
Names
Classification
Review status
HGVS expressions
Data validation
Submitters
Data dictionary
Access
Access and releases
Linking to ClinVar
Help
How to search ClinVar
Accessions and identifiers
Using the ClinVar variation display
Using the ClinVar record display
Comparing the variation and record displays
FAQ
Submit
Submission overview
Spreadsheets
Instructions for spreadsheets
Submission Portal
FAQ for submissions
Assertion criteria
Expert panels and practice guidelines
Statistics
Statistics
List of submitters
Submitting groups
FTP
Go to the FTP site
Overview
Result Filters
Classification type
Clear
Germline
(3)
Somatic
(0)
Germline classification
Clear
Conflicting classifications
(0)
Benign
(0)
Likely benign
(0)
Uncertain significance
(1)
Likely pathogenic
(0)
Pathogenic
(2)
Types of conflicts
Clear
P/LP vs LB/B
(0)
P/LP vs VUS
(0)
VUS vs LB/B
(0)
Molecular consequence
Clear
Frameshift
(1)
Missense
(0)
Nonsense
(0)
Splice site
(0)
ncRNA
(0)
Near gene
(0)
UTR
(1)
Variation type
Clear
Deletion
(1)
Duplication
(1)
Indel
(0)
Insertion
(0)
Single nucleotide
(1)
Variation size
Clear
Short variant (< 50 bps)
(2)
Structural variant (>= 50 bps)
(0)
Variant length
Clear
< 1kb, single gene
(2)
> 1kb, single gene
(0)
> 1kb, multiple genes
(0)
Review status
Clear
Practice guideline
(0)
Expert panel
(0)
Multiple submitters
(0)
Single submitter
(3)
At least one star
(3)
Conflicting classifications
(0)
Clear all
Show additional filters
x
Additional filters
Classification type
Germline classification
Types of conflicts
Molecular consequence
Variation type
Variation size
Variant length
Review status
Search fields
Show
Display options
Sort by Location
Download
Format
Tabular
Tabular (text)
UI List
Sort by
Location
Relevance
Gene
Variation
Choose Destination
File
Format
Tabular (text)
UI List
Sort by
Location
Relevance
Gene
Variation
Create File
Add to Clipboard
Add to Collections
Search results
Items: 3
Variation
Gene
(Protein Change)
Type
(Consequence)
Condition
Classification, Review status
Select item 3237494
NM_000240.4(
MAOA
):c.290_303del (p.Leu97fs)
MAOA
(L97fs)
Deletion
(frameshift variant +1 more)
Brunner syndrome
G
Pathogenic
Select item 1034122
NM_000240.4(
MAOA
):c.411+12G>A
MAOA
Single nucleotide variant
(intron variant)
Brunner syndrome
G
Uncertain significance
Select item 625640
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622)
ARAF, CCDC120
+64 more
Copy number gain
not provided
G
Pathogenic
Click to view in NCBI Gene
Display options
Sort by Location
Download
Format
Tabular
Tabular (text)
UI List
Sort by
Location
Relevance
Gene
Variation
Choose Destination
File
Format
Tabular (text)
UI List
Sort by
Location
Relevance
Gene
Variation
Create File
Add to Clipboard
Add to Collections