ClinVar for MedGen (Select 864072) - ClinVar

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

Result Filters

Links from MedGen

Items: 38

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26640771.	NM_007289.4(MME):c.329T>G (p.Leu110Ter) GRCh37: Chr3:154832915 GRCh38: Chr3:155115126	MME	L110*	Charcot-Marie-Tooth disease axonal type 2T	Likely pathogenic (Jul 10, 2023)	criteria provided, single submitter
Select item 25815752.	NM_007289.4(MME):c.1119_1127del (p.Trp373_Ile376delinsTer) GRCh37: Chr3:154860050-154860058 GRCh38: Chr3:155142261-155142269	MME		Charcot-Marie-Tooth disease axonal type 2T	Pathogenic (Aug 8, 2023)	criteria provided, single submitter
Select item 25784523.	NM_007289.4(MME):c.655-4A>G GRCh37: Chr3:154836531 GRCh38: Chr3:155118742	MME		Charcot-Marie-Tooth disease axonal type 2T	Uncertain significance	no assertion criteria provided
Select item 17097604.	NM_007289.4(MME):c.536-1G>A GRCh37: Chr3:154834656 GRCh38: Chr3:155116867	MME		Charcot-Marie-Tooth disease axonal type 2T, not provided	Pathogenic/Likely pathogenic (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14435375.	NM_007289.4(MME):c.389T>C (p.Ile130Thr) GRCh37: Chr3:154834298 GRCh38: Chr3:155116509	MME	I130T	Charcot-Marie-Tooth disease axonal type 2T, Inborn genetic diseases, not provided	Uncertain significance (May 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 14246576.	NM_007289.4(MME):c.1511A>T (p.Glu504Val) GRCh37: Chr3:154866352 GRCh38: Chr3:155148563	MME	E504V	Inborn genetic diseases, not provided	Uncertain significance (Nov 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13391017.	NM_007289.4(MME):c.1154G>A (p.Arg385Gln) GRCh37: Chr3:154860085 GRCh38: Chr3:155142296	MME	R385Q	not provided, Charcot-Marie-Tooth disease axonal type 2T	Uncertain significance (May 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13391008.	NM_007289.4(MME):c.917C>T (p.Ala306Val) GRCh37: Chr3:154858041 GRCh38: Chr3:155140252	MME	A306V	Charcot-Marie-Tooth disease axonal type 2T	Uncertain significance	criteria provided, single submitter
Select item 13355459.	NM_007289.4(MME):c.1313_1314del (p.His438fs) GRCh37: Chr3:154861356-154861357 GRCh38: Chr3:155143567-155143568	MME	H438fs	not provided, Charcot-Marie-Tooth disease axonal type 2T	Pathogenic/Likely pathogenic (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132692410.	NM_007289.4(MME):c.716_717del (p.Lys239fs) GRCh37: Chr3:154836595-154836596 GRCh38: Chr3:155118806-155118807	MME	K239fs	Charcot-Marie-Tooth disease axonal type 2T	Likely pathogenic (Oct 21, 2021)	no assertion criteria provided
Select item 130365111.	NM_007289.4(MME):c.1914+1G>A GRCh37: Chr3:154886415 GRCh38: Chr3:155168626	MME		Charcot-Marie-Tooth disease axonal type 2T, not provided	Conflicting interpretations of pathogenicity (Sep 22, 2023)	criteria provided, conflicting interpretations
Select item 118449812.	NM_007289.4(MME):c.2050C>T (p.Gln684Ter) GRCh37: Chr3:154889975 GRCh38: Chr3:155172186	MME	Q684*	not provided	Pathogenic/Likely pathogenic (Nov 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98297513.	NM_007289.4(MME):c.307C>T (p.Arg103Cys) GRCh37: Chr3:154832893 GRCh38: Chr3:155115104	MME	R103C	Charcot-Marie-Tooth disease axonal type 2T, not provided	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97270514.	NM_007289.4(MME):c.1574A>C (p.Lys525Thr) GRCh37: Chr3:154866415 GRCh38: Chr3:155148626	MME	K525T	Charcot-Marie-Tooth disease axonal type 2T	Uncertain significance	criteria provided, single submitter
Select item 93585015.	NM_007289.4(MME):c.1400dup (p.Arg468fs) GRCh37: Chr3:154862224-154862225 GRCh38: Chr3:155144435-155144436	MME	R468fs	Charcot-Marie-Tooth disease axonal type 2T, not provided	Pathogenic/Likely pathogenic (Jan 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 93188016.	NM_007289.4(MME):c.1735G>A (p.Gly579Ser) GRCh37: Chr3:154884765 GRCh38: Chr3:155166976	MME	G579S	Spinocerebellar ataxia 43, not provided	Uncertain significance (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85161717.	NM_007289.4(MME):c.202C>T (p.Arg68Ter) GRCh37: Chr3:154832788 GRCh38: Chr3:155114999	MME	R68*	Charcot-Marie-Tooth disease axonal type 2T, not provided	Pathogenic/Likely pathogenic (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81807518.	NM_007289.4(MME):c.531del (p.Lys177fs) GRCh37: Chr3:154834540 GRCh38: Chr3:155116751	MME	K177fs	Charcot-Marie-Tooth disease axonal type 2T, not provided	Pathogenic (Mar 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81214519.	NM_007289.4(MME):c.2072C>T (p.Ala691Val) GRCh37: Chr3:154889997 GRCh38: Chr3:155172208	MME	A691V	Charcot-Marie-Tooth disease axonal type 2T	Uncertain significance (Jul 11, 2019)	criteria provided, single submitter
Select item 80955820.	NM_007289.4(MME):c.1040A>G (p.Tyr347Cys) GRCh37: Chr3:154859862 GRCh38: Chr3:155142073	MME	Y347C	not provided, Hereditary breast ovarian cancer syndrome, Spinocerebellar ataxia 43, Charcot-Marie-Tooth disease axonal type 2T, not specified	Uncertain significance (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 77591821.	NM_007289.4(MME):c.1255A>C (p.Met419Leu) GRCh37: Chr3:154861298 GRCh38: Chr3:155143509	MME	M419L	Charcot-Marie-Tooth disease axonal type 2T, Spinocerebellar ataxia 43, not provided	Benign/Likely benign (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70788822.	NM_007289.4(MME):c.2133G>A (p.Val711=) GRCh37: Chr3:154890381 GRCh38: Chr3:155172592	MME		Charcot-Marie-Tooth disease axonal type 2T, Spinocerebellar ataxia 43, not provided	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 61758523.	NM_007289.4(MME):c.1972G>A (p.Ala658Thr) GRCh37: Chr3:154886578 GRCh38: Chr3:155168789	MME	A658T	Charcot-Marie-Tooth disease axonal type 2T	Likely pathogenic (Oct 8, 2018)	criteria provided, single submitter
Select item 61758424.	NM_007289.4(MME):c.1666C>T (p.Pro556Ser) GRCh37: Chr3:154884696 GRCh38: Chr3:155166907	MME	P556S	Charcot-Marie-Tooth disease axonal type 2T	Likely pathogenic (Oct 8, 2018)	criteria provided, single submitter
Select item 52175925.	NM_007289.4(MME):c.516A>T (p.Glu172Asp) GRCh37: Chr3:154834529 GRCh38: Chr3:155116740	MME	E172D	not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2T	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45305826.	NM_007289.4(MME):c.1781-2A>G GRCh37: Chr3:154886279 GRCh38: Chr3:155168490	MME		not provided	Pathogenic/Likely pathogenic (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 43277727.	NM_007289.4(MME):c.1564C>T (p.Gln522Ter) GRCh37: Chr3:154866405 GRCh38: Chr3:155148616	MME	Q522*	not provided	Pathogenic (Jun 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42694528.	NM_007289.4(MME):c.467del (p.Pro156fs) GRCh37: Chr3:154834479 GRCh38: Chr3:155116690	MME	P156fs	Charcot-Marie-Tooth disease axonal type 2T, Spinocerebellar ataxia 43, not provided	Pathogenic/Likely pathogenic (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 40367029.	NM_007289.4(MME):c.1904G>A (p.Gly635Asp) GRCh37: Chr3:154886404 GRCh38: Chr3:155168615	MME	G635D	Charcot-Marie-Tooth disease axonal type 2T	Uncertain significance (Mar 9, 2017)	criteria provided, single submitter
Select item 40366930.	NM_007289.4(MME):c.1272del (p.Arg425fs) GRCh37: Chr3:154861312 GRCh38: Chr3:155143523	MME	R425fs	Charcot-Marie-Tooth disease axonal type 2T, not provided	Conflicting interpretations of pathogenicity (May 31, 2020)	criteria provided, conflicting interpretations
Select item 26574431.	NM_007289.4(MME):c.1265C>A (p.Ala422Asp) GRCh37: Chr3:154861308 GRCh38: Chr3:155143519	MME	A422D	not provided	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26574332.	NM_007289.4(MME):c.71G>A (p.Trp24Ter) GRCh37: Chr3:154802027 GRCh38: Chr3:155084238	MME	W24*	Charcot-Marie-Tooth disease axonal type 2T	risk factor (Oct 6, 2016)	no assertion criteria provided
Select item 24284133.	NM_007289.4(MME):c.655-2A>G GRCh37: Chr3:154836533 GRCh38: Chr3:155118744	MME		Charcot-Marie-Tooth disease axonal type 2T	Pathogenic (Jul 6, 2016)	no assertion criteria provided
Select item 24284034.	NM_007289.4(MME):c.439+2T>A GRCh37: Chr3:154834350 GRCh38: Chr3:155116561	MME		Charcot-Marie-Tooth disease axonal type 2T	Pathogenic (Jul 6, 2016)	no assertion criteria provided
Select item 24283935.	NM_007289.4(MME):c.1861T>C (p.Cys621Arg) GRCh37: Chr3:154886361 GRCh38: Chr3:155168572	MME	C621R	Peripheral neuropathy	Likely pathogenic (Jul 10, 2021)	criteria provided, single submitter
Select item 24283836.	NM_007289.4(MME):c.661C>T (p.Gln221Ter) GRCh37: Chr3:154836541 GRCh38: Chr3:155118752	MME	Q221*	Charcot-Marie-Tooth disease axonal type 2T	Pathogenic (Jul 6, 2016)	no assertion criteria provided
Select item 24283737.	NM_007289.4(MME):c.654+1G>A GRCh37: Chr3:154834776 GRCh38: Chr3:155116987	MME		Charcot-Marie-Tooth disease axonal type 2T	Pathogenic (Jul 6, 2016)	no assertion criteria provided
Select item 20914738.	NM_006736.6(DNAJB2):c.343G>T (p.Glu115Ter) GRCh37: Chr2:220146774 GRCh38: Chr2:219282052	DNAJB2	E115*	Charcot-Marie-Tooth disease axonal type 2T	Pathogenic (Oct 25, 2013)	criteria provided, single submitter

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 38