ClinVar for MedGen (Select 358268) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 44

VariationLocation		Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 4686211.	NM_145239.2(PRRT2):c.879+6C>A GRCh37: Chr16:29825260 GRCh38: Chr16:29813939	PRRT2	Dystonia 10, not specified	Conflicting interpretations of pathogenicity (Jul 24, 2017)	criteria provided, conflicting interpretations
Select item 4686202.	NM_145239.2(PRRT2):c.745T>C (p.Ser249Pro) GRCh37: Chr16:29825120 GRCh38: Chr16:29813799	PRRT2	Dystonia 10	Uncertain significance (Feb 24, 2017)	criteria provided, single submitter
Select item 4686193.	NM_145239.2(PRRT2):c.734G>A (p.Arg245His) GRCh37: Chr16:29825109 GRCh38: Chr16:29813788	PRRT2	Dystonia 10	Uncertain significance (Jun 11, 2017)	criteria provided, single submitter
Select item 4686184.	NM_145239.2(PRRT2):c.66C>T (p.Gly22=) GRCh37: Chr16:29824441 GRCh38: Chr16:29813120	PRRT2	Dystonia 10, not specified	Conflicting interpretations of pathogenicity (Jun 27, 2017)	criteria provided, conflicting interpretations
Select item 4686175.	NM_145239.2(PRRT2):c.649C>T (p.Arg217Ter) GRCh37: Chr16:29825024 GRCh38: Chr16:29813703	PRRT2	Dystonia 10	Pathogenic (Jun 29, 2017)	criteria provided, single submitter
Select item 4686166.	NM_145239.2(PRRT2):c.642C>A (p.Ala214=) GRCh37: Chr16:29825017 GRCh38: Chr16:29813696	PRRT2	Dystonia 10	Likely benign (Jun 29, 2017)	criteria provided, single submitter
Select item 4686157.	NM_145239.2(PRRT2):c.368G>A (p.Gly123Glu) GRCh37: Chr16:29824743 GRCh38: Chr16:29813422	PRRT2	Dystonia 10	Uncertain significance (May 24, 2017)	criteria provided, single submitter
Select item 4686148.	NM_145239.2(PRRT2):c.364C>A (p.Gln122Lys) GRCh37: Chr16:29824739 GRCh38: Chr16:29813418	PRRT2	Dystonia 10	Likely benign (Mar 31, 2017)	criteria provided, single submitter
Select item 4686139.	NM_145239.2(PRRT2):c.293A>G (p.Asn98Ser) GRCh37: Chr16:29824668 GRCh38: Chr16:29813347	PRRT2	Dystonia 10	Uncertain significance (Jul 28, 2017)	criteria provided, single submitter
Select item 46861210.	NC_000016.9:g.(?_29824356)_(29825979_?)dup GRCh37: Chr16:29824356-29825979	PRRT2	Dystonia 10	Uncertain significance (Jul 19, 2017)	criteria provided, single submitter
Select item 46861111.	NC_000016.10:g.(?_29813035)_(29814658_?)del GRCh37: Chr16:29824356-29825979 GRCh38: Chr16:29813035-29814658	PRRT2	Dystonia 10	Pathogenic (Aug 11, 2017)	criteria provided, single submitter
Select item 45135012.	NM_145239.2(PRRT2):c.431C>T (p.Pro144Leu) GRCh37: Chr16:29824806 GRCh38: Chr16:29813485	PRRT2	Dystonia 10, not specified	Uncertain significance (Aug 21, 2017)	criteria provided, multiple submitters, no conflicts
Select item 44091113.	NM_001256442.1(PRRT2):c.959C>T (p.Ala320Val) GRCh37: Chr16:29825733 GRCh38: Chr16:29814412	PRRT2	Seizures, benign familial infantile, 2, Dystonia 10	Pathogenic	criteria provided, single submitter
Select item 41733114.	NC_000016.10:g.(?_29812990)_(29815881_?)dup GRCh37: Chr16:29824311-29827202 GRCh38: Chr16:29812990-29815881	PRRT2	Dystonia 10	Uncertain significance (Jul 19, 2016)	criteria provided, single submitter
Select item 40441615.	NM_145239.2(PRRT2):c.923G>A (p.Arg308His) GRCh37: Chr16:29825697 GRCh38: Chr16:29814376	PRRT2	Dystonia 10	Uncertain significance (Aug 18, 2016)	criteria provided, single submitter
Select item 40441516.	NM_145239.2(PRRT2):c.635A>G (p.Asn212Ser) GRCh37: Chr16:29825010 GRCh38: Chr16:29813689	PRRT2	Dystonia 10	Uncertain significance (Nov 19, 2016)	criteria provided, single submitter
Select item 40441417.	NM_145239.2(PRRT2):c.932G>C (p.Arg311Pro) GRCh37: Chr16:29825706 GRCh38: Chr16:29814385	PRRT2	Dystonia 10	Uncertain significance (Dec 11, 2016)	criteria provided, single submitter
Select item 37340118.	NM_145239.2(PRRT2):c.455C>A (p.Pro152His) GRCh37: Chr16:29824830 GRCh38: Chr16:29813509	PRRT2	Dystonia 10, not specified	Uncertain significance (Dec 5, 2016)	criteria provided, multiple submitters, no conflicts
Select item 28459219.	NM_145239.2(PRRT2):c.773G>A (p.Gly258Glu) GRCh37: Chr16:29825148 GRCh38: Chr16:29813827	PRRT2	Dystonia 10, not specified	Benign/Likely benign (Jun 14, 2017)	criteria provided, multiple submitters, no conflicts
Select item 28150320.	NM_145239.2(PRRT2):c.564G>A (p.Gln188=) GRCh37: Chr16:29824939 GRCh38: Chr16:29813618	PRRT2	Dystonia 10, not specified	Benign (Jun 13, 2017)	criteria provided, multiple submitters, no conflicts
Select item 24195321.	NM_145239.2(PRRT2):c.719G>A (p.Arg240Gln) GRCh37: Chr16:29825094 GRCh38: Chr16:29813773	PRRT2	Dystonia 10	Uncertain significance (May 23, 2017)	criteria provided, single submitter
Select item 20669622.	NM_145239.2(PRRT2):c.971delG (p.Gly324Glufs) GRCh37: Chr16:29825745 GRCh38: Chr16:29814424	PRRT2	Dystonia 10, not provided	Likely pathogenic (May 16, 2017)	criteria provided, multiple submitters, no conflicts
Select item 20668923.	NM_145239.2(PRRT2):c.647C>A (p.Pro216His) GRCh37: Chr16:29825022 GRCh38: Chr16:29813701	PRRT2	Dystonia 10, not specified	Likely benign (May 8, 2017)	criteria provided, multiple submitters, no conflicts
Select item 20668824.	NM_145239.2(PRRT2):c.644C>G (p.Pro215Arg) GRCh37: Chr16:29825019 GRCh38: Chr16:29813698	PRRT2	Dystonia 10, not specified	Likely benign (Oct 3, 2017)	criteria provided, multiple submitters, no conflicts
Select item 20668725.	NM_145239.2(PRRT2):c.640G>C (p.Ala214Pro) GRCh37: Chr16:29825015 GRCh38: Chr16:29813694	PRRT2	Dystonia 10, not specified	Conflicting interpretations of pathogenicity (Oct 6, 2017)	criteria provided, conflicting interpretations
Select item 20668226.	NM_145239.2(PRRT2):c.14G>C (p.Ser5Thr) GRCh37: Chr16:29824389 GRCh38: Chr16:29813068	PRRT2	Dystonia 10	Uncertain significance (Jan 14, 2017)	criteria provided, single submitter
Select item 20667827.	NM_145239.2(PRRT2):c.133C>T (p.Pro45Ser) GRCh37: Chr16:29824508 GRCh38: Chr16:29813187	PRRT2	Dystonia 10, not specified, not provided	Likely benign (Aug 15, 2017)	criteria provided, multiple submitters, no conflicts
Select item 19737928.	NM_145239.2(PRRT2):c.1013T>C (p.Val338Ala) GRCh37: Chr16:29825949 GRCh38: Chr16:29814628	PRRT2	Dystonia 10, not specified	Conflicting interpretations of pathogenicity (Nov 3, 2017)	criteria provided, conflicting interpretations
Select item 13881529.	NM_145239.2(PRRT2):c.751C>T (p.Leu251=) GRCh37: Chr16:29825126 GRCh38: Chr16:29813805	PRRT2	Dystonia 10, not specified	Benign (Aug 14, 2017)	criteria provided, multiple submitters, no conflicts
Select item 13881430.	NM_145239.2(PRRT2):c.612C>G (p.Pro204=) GRCh37: Chr16:29824987 GRCh38: Chr16:29813666	PRRT2	Dystonia 10, not specified	Benign/Likely benign (Apr 13, 2017)	criteria provided, multiple submitters, no conflicts
Select item 13881331.	NM_145239.2(PRRT2):c.439G>C (p.Asp147His) GRCh37: Chr16:29824814 GRCh38: Chr16:29813493	PRRT2	Dystonia 10, not specified	Benign (May 23, 2017)	criteria provided, multiple submitters, no conflicts
Select item 13003932.	NM_145239.2(PRRT2):c.67G>A (p.Glu23Lys) GRCh37: Chr16:29824442 GRCh38: Chr16:29813121	PRRT2	Dystonia 10, not specified, not provided	Conflicting interpretations of pathogenicity (Dec 1, 2017)	criteria provided, conflicting interpretations
Select item 13003833.	NM_145239.2(PRRT2):c.412C>G (p.Pro138Ala) GRCh37: Chr16:29824787 GRCh38: Chr16:29813466	PRRT2	Dystonia 10, not specified, not provided	Benign/Likely benign (Aug 1, 2017)	criteria provided, multiple submitters, no conflicts
Select item 9649434.	NM_145239.2(PRRT2):c.647C>T (p.Pro216Leu) GRCh37: Chr16:29825022 GRCh38: Chr16:29813701	PRRT2	Dystonia 10, not specified, not provided	Benign/Likely benign (Aug 2, 2017)	criteria provided, multiple submitters, no conflicts
Select item 6575835.	NM_145239.2(PRRT2):c.649dupC (p.Arg217Profs) GRCh37: Chr16:29825024 GRCh38: Chr16:29813703	PRRT2	Seizures, benign familial infantile, 2, Dystonia 10, Infantile convulsions and paroxysmal choreoathetosis, familial, Seizures, not provided	Pathogenic/Likely pathogenic (Jan 1, 2018)	criteria provided, multiple submitters, no conflicts
Select item 6575736.	NM_145239.2(PRRT2):c.647C>G (p.Pro216Arg) GRCh37: Chr16:29825022 GRCh38: Chr16:29813701	PRRT2	Dystonia 10, not specified	Conflicting interpretations of pathogenicity (Jun 20, 2016)	criteria provided, conflicting interpretations
Select item 6575637.	NM_145239.2(PRRT2):c.510dupT (p.Leu171Serfs) GRCh37: Chr16:29824885 GRCh38: Chr16:29813564	PRRT2	Dystonia 10	Pathogenic (Jun 27, 2013)	no assertion criteria provided
Select item 3975638.	NM_145239.2(PRRT2):c.748C>T (p.Gln250Ter) GRCh37: Chr16:29825123 GRCh38: Chr16:29813802	PRRT2	Seizures, benign familial infantile, 2, Dystonia 10	Pathogenic (May 1, 2012)	no assertion criteria provided
Select item 3975239.	NM_145239.2(PRRT2):c.649delC (p.Arg217Glufs) GRCh37: Chr16:29825024 GRCh38: Chr16:29813703	PRRT2	Seizures, benign familial infantile, 2, Dystonia 10, Infantile convulsions and paroxysmal choreoathetosis, familial, not provided	Pathogenic (Jul 5, 2017)	criteria provided, multiple submitters, no conflicts
Select item 3117740.	NM_145239.2(PRRT2):c.796C>T (p.Arg266Trp) GRCh37: Chr16:29825171 GRCh38: Chr16:29813850	PRRT2	Dystonia 10	Pathogenic (Dec 1, 2011)	no assertion criteria provided
Select item 3117641.	NM_145239.2(PRRT2):c.487C>T (p.Gln163Ter) GRCh37: Chr16:29824862 GRCh38: Chr16:29813541	PRRT2	Dystonia 10, Infantile convulsions and paroxysmal choreoathetosis, familial	Pathogenic (Dec 1, 2011)	no assertion criteria provided
Select item 3117042.	NM_145239.2(PRRT2):c.972delA (p.Val325Serfs) GRCh37: Chr16:29825746 GRCh38: Chr16:29814425	PRRT2	Dystonia 10	Pathogenic (Nov 20, 2011)	no assertion criteria provided
Select item 3116943.	NM_145239.2(PRRT2):c.514_517delTCTG (p.Ser172Argfs) GRCh37: Chr16:29824889-29824892 GRCh38: Chr16:29813568-29813571	PRRT2	Dystonia 10	Pathogenic (Nov 20, 2011)	no assertion criteria provided
Select item 3116844.	PRRT2, 1-BP DUP, 649C	PRRT2	Seizures, benign familial infantile, 2, Dystonia 10, Infantile convulsions and paroxysmal choreoathetosis, familial	Pathogenic (Oct 1, 2012)	no assertion criteria provided

You are here: NCBI

Support Center

ClinVar

Result Filters

Gene

Clinical significance

Review status

Allele origin

Method type

Molecular consequence

Variation type

Complexity

Variant length

Variant-gene relationship

Additional filters

Download:

Links from MedGen

Items: 44

Download:

Supplemental Content

Find related data

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information