ClinVar for MedGen (Select 864072) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383065	NM_007289.4(MME):c.1715C>A (p.Ser572Ter)	MME (S572*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2T +1 more	GLikely pathogenic
Select item 3382292	NM_007289.4(MME):c.1283T>G (p.Val428Gly)	MME (V428G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 43 +1 more	GUncertain significance
Select item 3237366	NM_007289.4(MME):c.238T>C (p.Cys80Arg)	MME (C80R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2T	GLikely pathogenic
Select item 3236116	NM_007289.4(MME):c.1821G>A (p.Trp607Ter)	MME (W607*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2T	GLikely pathogenic
Select item 3233785	NC_000003.11:g.(?_154798107)_(154802884_154832782)del	MME	Deletion	Charcot-Marie-Tooth disease axonal type 2T	GPathogenic
Select item 3019338	NM_007289.4(MME):c.1229G>A (p.Arg410His)	MME (R410H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2T +1 more	GUncertain significance
Select item 3000253	NM_007289.4(MME):c.1645G>T (p.Gly549Ter)	MME (G549*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2664314	NM_007289.4(MME):c.1892G>A (p.Trp631Ter)	MME (W631*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2T	GLikely pathogenic
Select item 2664077	NM_007289.4(MME):c.329T>G (p.Leu110Ter)	MME (L110*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2T	GLikely pathogenic
Select item 2581575	NM_007289.4(MME):c.1119_1127del (p.Trp373_Ile376delinsTer)	MME	Deletion (nonsense)	Charcot-Marie-Tooth disease axonal type 2T	GPathogenic
Select item 2578452	NM_007289.4(MME):c.655-4A>G	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1994799	NM_007289.4(MME):c.1773T>A (p.Asp591Glu)	MME (D591E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1709760	NM_007289.4(MME):c.536-1G>A	MME	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1678584	NM_007289.4(MME):c.1094+5G>T	MME	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2T +1 more	GUncertain significance
Select item 1443537	NM_007289.4(MME):c.389T>C (p.Ile130Thr)	MME (I130T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1424657	NM_007289.4(MME):c.1511A>T (p.Glu504Val)	MME (E504V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1339101	NM_007289.4(MME):c.1154G>A (p.Arg385Gln)	MME (R385Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2T +1 more	GUncertain significance
Select item 1339100	NM_007289.4(MME):c.917C>T (p.Ala306Val)	MME (A306V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2T	GUncertain significance
Select item 1335545	NM_007289.4(MME):c.1313_1314del (p.His438fs)	MME (H438fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2T +1 more	GPathogenic/Likely pathogenic
Select item 1326924	NM_007289.4(MME):c.716_717del (p.Lys239fs)	MME (K239fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2T	GLikely pathogenic
Select item 1303651	NM_007289.4(MME):c.1914+1G>A	MME	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2T +1 more	GConflicting classifications of pathogenicity
Select item 1184498	NM_007289.4(MME):c.2050C>T (p.Gln684Ter)	MME (Q684*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 982975	NM_007289.4(MME):c.307C>T (p.Arg103Cys)	MME (R103C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2T +1 more	GUncertain significance
Select item 972705	NM_007289.4(MME):c.1574A>C (p.Lys525Thr)	MME (K525T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2T	GUncertain significance
Select item 935850	NM_007289.4(MME):c.1400dup (p.Arg468fs)	MME (R468fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2T +1 more	GPathogenic/Likely pathogenic
Select item 931880	NM_007289.4(MME):c.1735G>A (p.Gly579Ser)	MME (G579S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 43 +1 more	GUncertain significance
Select item 872138	NM_007289.4(MME):c.2067C>A (p.Asn689Lys)	MME (N689K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2T +2 more	GUncertain significance
Select item 851617	NM_007289.4(MME):c.202C>T (p.Arg68Ter)	MME (R68*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 818075	NM_007289.4(MME):c.531del (p.Lys177fs)	MME (K177fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 812145	NM_007289.4(MME):c.2072C>T (p.Ala691Val)	MME (A691V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2T	GUncertain significance
Select item 809558	NM_007289.4(MME):c.1040A>G (p.Tyr347Cys)	MME (Y347C)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 775918	NM_007289.4(MME):c.1255A>C (p.Met419Leu)	MME (M419L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 707888	NM_007289.4(MME):c.2133G>A (p.Val711=)	MME	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2T +2 more	GBenign/Likely benign
Select item 617585	NM_007289.4(MME):c.1972G>A (p.Ala658Thr)	MME (A658T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2T	GLikely pathogenic
Select item 617584	NM_007289.4(MME):c.1666C>T (p.Pro556Ser)	MME (P556S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2T	GLikely pathogenic
Select item 521759	NM_007289.4(MME):c.516A>T (p.Glu172Asp)	MME (E172D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 493378	NM_007289.4(MME):c.1580G>A (p.Arg527Gln)	MME (R527Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 453058	NM_007289.4(MME):c.1781-2A>G	MME	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 432802	NM_007289.4(MME):c.1497+1G>C	MME	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 432777	NM_007289.4(MME):c.1564C>T (p.Gln522Ter)	MME (Q522*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 431858	NM_007289.4(MME):c.440-2A>C	MME	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease axonal type 2T +1 more	GPathogenic/Likely pathogenic
Select item 426945	NM_007289.4(MME):c.467del (p.Pro156fs)	MME (P156fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 403670	NM_007289.4(MME):c.1904G>A (p.Gly635Asp)	MME (G635D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2T	GUncertain significance
Select item 403669	NM_007289.4(MME):c.1272del (p.Arg425fs)	MME (R425fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2T +1 more	GConflicting classifications of pathogenicity
Select item 265744	NM_007289.4(MME):c.1265C>A (p.Ala422Asp)	MME (A422D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265743	NM_007289.4(MME):c.71G>A (p.Trp24Ter)	MME (W24*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 242841	NM_007289.4(MME):c.655-2A>G	MME	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease axonal type 2T	GPathogenic
Select item 242840	NM_007289.4(MME):c.439+2T>A	MME	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2T	GPathogenic
Select item 242839	NM_007289.4(MME):c.1861T>C (p.Cys621Arg)	MME (C621R)	Single nucleotide variant (missense variant)	Peripheral neuropathy	GLikely pathogenic
Select item 242838	NM_007289.4(MME):c.661C>T (p.Gln221Ter)	MME (Q221*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2T	GPathogenic
Select item 242837	NM_007289.4(MME):c.654+1G>A	MME	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2T	GPathogenic
Select item 209147	NM_006736.6(DNAJB2):c.343G>T (p.Glu115Ter)	DNAJB2 (E115*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2T	GPathogenic

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Items: 52