"GeneDx"[submitter] AND "MTMR2"[gene] - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 1211024	NM_016156.6(MTMR2):c.*163G>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 450066	NM_016156.6(MTMR2):c.1910C>T (p.Thr637Ile)	MTMR2 (T637I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	not provided +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)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
Select item 306534	NM_016156.6(MTMR2):c.1843C>G (p.Gln615Glu)	MTMR2 (Q615E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
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 4 +3 more	GBenign/Likely benign
Select item 683220	NM_016156.6(MTMR2):c.1771-142G>T	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683218	NM_016156.6(MTMR2):c.1770+129C>T	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683219	NM_016156.6(MTMR2):c.1770+59T>G	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 418333	NM_016156.6(MTMR2):c.1770+7_1770+19delinsC	MTMR2	Indel (intron variant)	Charcot-Marie-Tooth disease +2 more	GConflicting classifications of pathogenicity
Select item 384786	NM_016156.6(MTMR2):c.1770+3A>G	MTMR2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +2 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 4 +3 more	GBenign
Select item 637810	NM_016156.6(MTMR2):c.1749G>A (p.Trp583Ter)	MTMR2 (W583* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 543419	NM_016156.6(MTMR2):c.1741A>G (p.Ile581Val)	MTMR2 (I581V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B1 +4 more	GConflicting classifications of pathogenicity
Select item 515235	NM_016156.6(MTMR2):c.1695T>C (p.Tyr565=)	MTMR2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 194416	NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser)	MTMR2 (N545S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1269509	NM_016156.6(MTMR2):c.1594-42C>T	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668751	NM_016156.6(MTMR2):c.1593+297C>T	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 306537	NM_016156.6(MTMR2):c.1551C>T (p.Phe517=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +3 more	GConflicting classifications of pathogenicity
Select item 306538	NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln)	MTMR2 (E502Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 more	GBenign
Select item 306539	NM_016156.6(MTMR2):c.1488C>T (p.Thr496=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B1 +4 more	GBenign/Likely benign
Select item 508392	NM_016156.6(MTMR2):c.1480-20T>C	MTMR2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 672978	NM_016156.6(MTMR2):c.1480-220G>A	MTMR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 509081	NM_016156.6(MTMR2):c.1446A>G (p.Gln482=)	MTMR2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 392709	NM_016156.6(MTMR2):c.1431G>A (p.Ser477=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B1 +3 more	GConflicting classifications of pathogenicity
Select item 1295242	NM_016156.6(MTMR2):c.1387-150C>G	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261619	NM_016156.6(MTMR2):c.1386+192G>C	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683217	NM_016156.6(MTMR2):c.1386+188A>G	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183336	NM_016156.6(MTMR2):c.1386+151dup	MTMR2	Duplication (intron variant)	not provided	GLikely benign
Select item 386798	NM_016156.6(MTMR2):c.1386A>G (p.Leu462=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +3 more	GConflicting classifications of pathogenicity
Select item 234456	NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys)	MTMR2 (E446K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1308706	NM_016156.6(MTMR2):c.1277A>T (p.Gln426Leu)	MTMR2 (Q354L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138271	NM_016156.6(MTMR2):c.1233G>A (p.Thr411=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +4 more	GBenign
Select item 1181683	NM_016156.6(MTMR2):c.1180-271T>A	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260685	NM_016156.6(MTMR2):c.1131C>T (p.Thr377=)	MTMR2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 1043133	NM_016156.6(MTMR2):c.1091G>A (p.Arg364Gln)	MTMR2 (R292Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 675842	NM_016156.6(MTMR2):c.994-21A>G	MTMR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 246557	NM_016156.6(MTMR2):c.952A>G (p.Ile318Val)	MTMR2 (I318V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 390169	NM_016156.6(MTMR2):c.825T>A (p.Pro275=)	MTMR2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1198711	NM_016156.6(MTMR2):c.805-140dup	MTMR2	Duplication (intron variant)	not provided	GLikely benign
Select item 1188130	NM_016156.6(MTMR2):c.805-137T>C	MTMR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673629	NM_016156.6(MTMR2):c.804+301T>G	MTMR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 418338	NM_016156.6(MTMR2):c.749T>C (p.Ile250Thr)	MTMR2 (I250T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878966	NM_016156.6(MTMR2):c.683C>G (p.Thr228Arg)	MTMR2 (T156R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 683215	NM_016156.6(MTMR2):c.655-82T>C	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668750	NM_016156.6(MTMR2):c.655-285dup	MTMR2	Duplication (intron variant)	not provided	GBenign
Select item 1295243	NM_016156.6(MTMR2):c.654+230C>T	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672977	NM_016156.6(MTMR2):c.654+77C>T	MTMR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1022294	NM_016156.6(MTMR2):c.629A>G (p.Asp210Gly)	MTMR2 (D138G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 543380	NM_016156.6(MTMR2):c.604C>G (p.Pro202Ala)	MTMR2 (P202A +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B1 +4 more	GUncertain significance
Select item 1264390	NM_016156.6(MTMR2):c.570+344G>A	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 306543	NM_016156.6(MTMR2):c.570+11T>C	MTMR2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +3 more	GBenign/Likely benign
Select item 514997	NM_016156.6(MTMR2):c.522C>T (p.Ser174=)	MTMR2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1290866	NM_016156.6(MTMR2):c.469-76T>C	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674079	NM_016156.6(MTMR2):c.469-147C>T	MTMR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684384	NM_016156.6(MTMR2):c.468+325T>C	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676826	NM_016156.6(MTMR2):c.358-60G>C	MTMR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232161	NM_016156.6(MTMR2):c.357+45_357+48del	MTMR2	Deletion (intron variant)	not provided	GBenign
Select item 543386	NM_016156.6(MTMR2):c.355C>G (p.Arg119Gly)	MTMR2 (R119G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 383870	NM_016156.6(MTMR2):c.279T>C (p.Tyr93=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +3 more	GLikely benign
Select item 1253564	NM_016156.6(MTMR2):c.263-59G>T	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673447	NM_016156.6(MTMR2):c.263-164A>G	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679610	NM_016156.6(MTMR2):c.262+198del	MTMR2	Deletion (intron variant)	not provided	GLikely benign
Select item 683213	NM_016156.6(MTMR2):c.262+136T>C	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220302	NM_016156.6(MTMR2):c.187-59G>C	MTMR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674224	NM_016156.6(MTMR2):c.187-235dup	MTMR2	Duplication (intron variant)	not provided	GBenign
Select item 306546	NM_016156.6(MTMR2):c.186+5624TTTTA[6]	MTMR2	Microsatellite (intron variant +1 more)	not provided +1 more	GBenign
Select item 1254839	NM_016156.6(MTMR2):c.186+5591A>G	MTMR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250560	NM_016156.6(MTMR2):c.186+724dup	MTMR2	Duplication (intron variant)	not provided	GBenign
Select item 1254543	NM_016156.6(MTMR2):c.186+733del	MTMR2	Deletion (intron variant)	not provided	GLikely benign
Select item 1231627	NM_016156.6(MTMR2):c.186+575A>G	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298035	NM_016156.6(MTMR2):c.186+155A>G	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 916896	NM_016156.6(MTMR2):c.186+19A>T	MTMR2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 512786	NM_016156.6(MTMR2):c.186+9A>G	MTMR2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +2 more	GLikely benign
Select item 306547	NM_016156.6(MTMR2):c.184_186del (p.Arg62del)	MTMR2 (R62del)	Deletion (5 prime UTR variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 215521	NM_016156.6(MTMR2):c.130G>A (p.Val44Ile)	MTMR2 (V44I)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GBenign/Likely benign
Select item 515067	NM_016156.6(MTMR2):c.81-4G>C	MTMR2	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1281315	NM_016156.6(MTMR2):c.81-298G>A	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683193	NM_016156.6(MTMR2):c.80+165G>A	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138272	NM_016156.6(MTMR2):c.80+13C>T	MTMR2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +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)	not provided +3 more	GUncertain significance
Select item 234848	NM_016156.6(MTMR2):c.56C>T (p.Pro19Leu)	MTMR2 (P19L)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
Select item 566079	NM_016156.6(MTMR2):c.35C>T (p.Ser12Phe)	MTMR2 (S12F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 188111	NM_016156.6(MTMR2):c.14C>G (p.Ser5Trp)	MTMR2 (S5W)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 260686	NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr)	MTMR2 (K3T)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +4 more	GBenign
Select item 378177	NM_016156.6(MTMR2):c.-35G>C	MTMR2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign

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Items: 90