ClinVar for MedGen (Select 321947) - ClinVar

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Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2687883	NM_016156.6(MTMR2):c.323C>T (p.Thr108Met)	MTMR2 (T108M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B1	GLikely pathogenic
Select item 2637502	NM_016156.6(MTMR2):c.1096del (p.Lys367fs)	MTMR2 (K295fs +1 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4B1	GPathogenic
Select item 2584950	NM_016156.6(MTMR2):c.771_772del (p.Arg257fs)	MTMR2 (R257fs +1 more)	Microsatellite (frameshift variant)	Charcot-Marie-Tooth disease type 4B1	GLikely pathogenic
Select item 1992325	NM_016156.6(MTMR2):c.1492T>C (p.Phe498Leu)	MTMR2 (F498L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 1803781	NM_016156.6(MTMR2):c.304C>T (p.Arg102Ter)	MTMR2 (R102* +1 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4B1	GPathogenic
Select item 1494538	NM_016156.6(MTMR2):c.146C>G (p.Ser49Cys)	MTMR2 (S49C)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4B1 +1 more	GUncertain significance
Select item 1330630	NM_016156.6(MTMR2):c.94C>G (p.His32Asp)	MTMR2 (H32D)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 993998	NM_016156.6(MTMR2):c.213A>G (p.Ala71=)	MTMR2	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4B1 +1 more	GLikely benign
Select item 993001	NM_016156.6(MTMR2):c.1736_1745delinsCC (p.Tyr579fs)	MTMR2 (Y507fs +1 more)	Indel (frameshift variant)	Charcot-Marie-Tooth disease type 4B1	GPathogenic
Select item 978023	NM_016156.6(MTMR2):c.463T>C (p.Cys155Arg)	MTMR2 (C155R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B1	GLikely pathogenic
Select item 883586	NM_016156.6(MTMR2):c.*1249G>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 883585	NM_016156.6(MTMR2):c.*1271A>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 883584	NM_016156.6(MTMR2):c.*1339T>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 882800	NM_016156.6(MTMR2):c.*1656T>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 881729	NM_016156.6(MTMR2):c.-89C>G	MTMR2	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 881728	NM_016156.6(MTMR2):c.-81G>A	MTMR2	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 881687	NM_016156.6(MTMR2):c.*212A>C	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 881686	NM_016156.6(MTMR2):c.*239A>T	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 881685	NM_016156.6(MTMR2):c.*335T>C	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 881638	NM_016156.6(MTMR2):c.*2042G>C	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 881266	NM_016156.6(MTMR2):c.162C>T (p.Ala54=)	MTMR2	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 881265	NM_016156.6(MTMR2):c.289T>A (p.Phe97Ile)	MTMR2 (F25I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 881222	NM_016156.6(MTMR2):c.*810C>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 881221	NM_016156.6(MTMR2):c.*825G>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 881220	NM_016156.6(MTMR2):c.*1036C>T	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 804461	NM_016156.6(MTMR2):c.766_767del (p.Lys256fs)	MTMR2 (K184fs +1 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4 +1 more	GPathogenic/Likely pathogenic
Select item 800877	NM_016156.6(MTMR2):c.25_26del (p.Leu10fs)	MTMR2 (L10fs)	Microsatellite (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 684411	NM_016156.6(MTMR2):c.883C>T (p.Arg295Ter)	MTMR2 (R295* +1 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4B1	GPathogenic
Select item 684410	NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter)	MTMR2 (R364* +1 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4B1 +2 more	GPathogenic
Select item 684409	NM_016156.6(MTMR2):c.1479+1G>A	MTMR2	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease type 4B1	GPathogenic
Select item 684408	NM_016156.6(MTMR2):c.1490dup (p.Phe498fs)	MTMR2 (F426fs +1 more)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 4B1	GPathogenic
Select item 637472	NM_016156.6(MTMR2):c.1593+1G>A	MTMR2	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease type 4B1	GPathogenic
Select item 623390	NM_016156.6(MTMR2):c.1768C>T (p.Gln590Ter)	MTMR2 (Q590* +1 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4B1	GPathogenic
Select item 549685	NM_016156.6(MTMR2):c.1164G>A (p.Trp388Ter)	MTMR2 (W388* +1 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4B1	GPathogenic
Select item 543419	NM_016156.6(MTMR2):c.1741A>G (p.Ile581Val)	MTMR2 (I581V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 543380	NM_016156.6(MTMR2):c.604C>G (p.Pro202Ala)	MTMR2 (P202A +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 476877	NM_016156.6(MTMR2):c.894A>T (p.Glu298Asp)	MTMR2 (E298D +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +4 more	GUncertain significance
Select item 476870	NM_016156.6(MTMR2):c.16A>T (p.Ser6Cys)	MTMR2 (S6C)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +4 more	GConflicting classifications of pathogenicity
Select item 414070	NM_016156.6(MTMR2):c.240A>C (p.Pro80=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B1 +3 more	GBenign/Likely benign
Select item 406679	NM_016156.6(MTMR2):c.1537_1538dup (p.Ser514fs)	MTMR2 (S442fs +1 more)	Microsatellite (frameshift variant)	Charcot-Marie-Tooth disease type 4 +1 more	GPathogenic
Select item 392709	NM_016156.6(MTMR2):c.1431G>A (p.Ser477=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +4 more	GConflicting classifications of pathogenicity
Select item 306549	NM_016156.5(MTMR2):c.-222G>C	MTMR2	Single nucleotide variant	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306548	NM_016156.6(MTMR2):c.-82C>T	MTMR2	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306545	NM_016156.6(MTMR2):c.212C>T (p.Ala71Val)	MTMR2 (A71V)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306544	NM_016156.6(MTMR2):c.547G>T (p.Ala183Ser)	MTMR2 (A183S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B1 +1 more	GConflicting classifications of pathogenicity
Select item 306543	NM_016156.6(MTMR2):c.570+11T>C	MTMR2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B1 +3 more	GBenign/Likely benign
Select item 306542	NM_016156.6(MTMR2):c.655-8A>G	MTMR2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B1 +1 more	GConflicting classifications of pathogenicity
Select item 306541	NM_016156.6(MTMR2):c.1339G>A (p.Val447Ile)	MTMR2 (V447I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B1 +1 more	GUncertain significance
Select item 306539	NM_016156.6(MTMR2):c.1488C>T (p.Thr496=)	MTMR2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 306538	NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln)	MTMR2 (E502Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 306537	NM_016156.6(MTMR2):c.1551C>T (p.Phe517=)	MTMR2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 306536	NM_016156.6(MTMR2):c.1756C>A (p.Arg586=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B1 +3 more	GBenign
Select item 306535	NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly)	MTMR2 (A602G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B1 +3 more	GBenign/Likely benign
Select item 306534	NM_016156.6(MTMR2):c.1843C>G (p.Gln615Glu)	MTMR2 (Q615E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 306533	NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln)	MTMR2 (R621Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B1 +4 more	GConflicting classifications of pathogenicity
Select item 306532	NM_016156.6(MTMR2):c.*85A>C	MTMR2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 306531	NM_016156.6(MTMR2):c.*133C>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306530	NM_016156.6(MTMR2):c.*190G>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306529	NM_016156.6(MTMR2):c.*207A>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306527	NM_016156.6(MTMR2):c.*549G>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GBenign
Select item 306526	NM_016156.6(MTMR2):c.*660G>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306525	NM_016156.6(MTMR2):c.*679A>C	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306524	NM_016156.6(MTMR2):c.*837G>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GLikely benign
Select item 306523	NM_016156.6(MTMR2):c.*910T>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306522	NM_016156.6(MTMR2):c.*987T>C	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GBenign
Select item 306521	NM_016156.6(MTMR2):c.*1066T>C	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GBenign
Select item 306520	NM_016156.6(MTMR2):c.*1089C>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GLikely benign
Select item 306518	NM_016156.6(MTMR2):c.*1150C>T	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306515	NM_016156.6(MTMR2):c.*1396C>T	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GBenign
Select item 306514	NM_016156.6(MTMR2):c.*1419G>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GBenign
Select item 306513	NM_016156.6(MTMR2):c.*1425A>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306512	NM_016156.6(MTMR2):c.*1444C>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GBenign
Select item 306511	NM_016156.6(MTMR2):c.*1568C>T	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GBenign
Select item 306510	NM_016156.6(MTMR2):c.*1684A>C	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GLikely benign
Select item 306509	NM_016156.6(MTMR2):c.*1822T>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306508	NM_016156.6(MTMR2):c.*1826C>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306506	NM_016156.6(MTMR2):c.*1934T>C	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GBenign
Select item 306505	NM_016156.6(MTMR2):c.*1952G>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GBenign
Select item 306504	NM_016156.6(MTMR2):c.*2014T>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GBenign
Select item 306503	NM_016156.6(MTMR2):c.*2038C>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306502	NM_016156.6(MTMR2):c.*2187A>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GLikely benign
Select item 306500	NM_016156.6(MTMR2):c.*2406C>T	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GBenign
Select item 260686	NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr)	MTMR2 (K3T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +4 more	GBenign
Select item 260685	NM_016156.6(MTMR2):c.1131C>T (p.Thr377=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B1 +4 more	GBenign
Select item 245770	NM_016156.6(MTMR2):c.80G>C (p.Ser27Thr)	MTMR2 (S27T)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4B1 +3 more	GUncertain significance
Select item 234456	NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys)	MTMR2 (E446K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B1 +4 more	GConflicting classifications of pathogenicity
Select item 234375	NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro)	MTMR2 (S619P +1 more)	Single nucleotide variant (missense variant)	MTMR2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 197307	NM_016156.6(MTMR2):c.356G>A (p.Arg119Gln)	MTMR2 (R119Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 194416	NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser)	MTMR2 (N545S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +3 more	GBenign/Likely benign
Select item 138272	NM_016156.6(MTMR2):c.80+13C>T	MTMR2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +3 more	GBenign
Select item 138271	NM_016156.6(MTMR2):c.1233G>A (p.Thr411=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B1 +3 more	GBenign
Select item 6234	NM_016156.6(MTMR2):c.1444C>T (p.Gln482Ter)	MTMR2 (Q482* +1 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4B1	GPathogenic
Select item 6233	NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter)	MTMR2 (E276* +1 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4B1	GPathogenic
Select item 6231	NM_016156.6(MTMR2):c.1276C>T (p.Gln426Ter)	MTMR2 (Q426* +1 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4	GPathogenic

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Items: 94