"GeneDx"[submitter] AND "MATR3"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58117	GRCh38/hg38 5q31.2(chr5:139151411-139493628)x3	DNAJC18, ECSCR +47 more	Copy number gain	See cases	GPathogenic
Select item 1282403	NM_018834.6(MATR3):c.-178+469T>G	MATR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212042	NM_018834.6(MATR3):c.-177-190_-177-188del	MATR3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1212470	NM_018834.6(MATR3):c.-177-90dup	MATR3	Duplication (intron variant)	not provided	GLikely benign
Select item 351117	NM_018834.6(MATR3):c.-103dup	MATR3	Duplication (5 prime UTR variant +1 more)	Distal myopathy +1 more	GBenign
Select item 263207	NM_018834.6(MATR3):c.-43T>A	MATR3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 1301101	NM_018834.6(MATR3):c.-42T>A	MATR3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 351121	NM_018834.6(MATR3):c.291A>G (p.Leu97=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 432705	NM_018834.6(MATR3):c.329A>C (p.Asn110Thr)	MATR3 (N110T)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21 +1 more	GUncertain significance
Select item 3370781	NM_018834.6(MATR3):c.694G>A (p.Asp232Asn)	MATR3 (D232N)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1303757	NM_018834.6(MATR3):c.955T>A (p.Cys319Ser)	MATR3 (C319S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1306016	NM_018834.6(MATR3):c.961CTT[2] (p.Leu323del)	MATR3 (L323del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1268115	NM_018834.6(MATR3):c.974+36G>A	MATR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188712	NM_018834.6(MATR3):c.1129+97G>A	MATR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 651450	NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr)	MATR3 (A90T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1274068	NM_018834.6(MATR3):c.1182+110G>A	MATR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250374	NM_018834.6(MATR3):c.1183-191G>A	MATR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201146	NM_018834.6(MATR3):c.1308+25T>C	MATR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235445	NM_018834.6(MATR3):c.1309-276G>A	MATR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231617	NM_018834.6(MATR3):c.1309-257C>T	MATR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 263208	NM_018834.6(MATR3):c.1602+6A>G	MATR3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1186092	NM_018834.6(MATR3):c.1602+192C>G	MATR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266086	NM_018834.6(MATR3):c.1603-109_1603-103del	MATR3	Deletion (intron variant)	not provided	GBenign
Select item 1383033	NM_018834.6(MATR3):c.1636A>G (p.Met546Val)	MATR3 (M258V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1179324	NM_018834.6(MATR3):c.1734+32A>C	MATR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178554	NM_018834.6(MATR3):c.1735-208C>A	LOC126807526, MATR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 351131	NM_018834.6(MATR3):c.1893C>T (p.Ser631=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1312850	NM_018834.6(MATR3):c.2048_2050del (p.Asn683_Leu684delinsIle)	LOC126807526, MATR3	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 1200159	NM_018834.6(MATR3):c.2148+158A>G	LOC126807526, MATR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175643	NM_018834.6(MATR3):c.2148+190T>G	LOC126807526, MATR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227443	NM_018834.6(MATR3):c.2148+253_2148+254insTGA	LOC126807526, MATR3	Insertion (intron variant)	not provided	GBenign
Select item 1186530	NM_018834.6(MATR3):c.2149-237dup	MATR3	Duplication (intron variant)	not provided	GLikely benign
Select item 3370641	NM_018834.6(MATR3):c.2207A>C (p.Lys736Thr)	MATR3 (K398T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196920	NM_018834.6(MATR3):c.2251G>A (p.Ala751Thr)	MATR3 (A413T +2 more)	Single nucleotide variant (missense variant)	MATR3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 351138	NM_018834.6(MATR3):c.2360A>G (p.Asn787Ser)	MATR3 (N787S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3372176	NM_018834.6(MATR3):c.2427T>G (p.Phe809Leu)	MATR3 (F471L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1295203	NM_018834.6(MATR3):c.2493+154dup	MATR3	Duplication (intron variant)	not provided	GBenign
Select item 1190100	NM_018834.6(MATR3):c.2493+154del	MATR3	Deletion (intron variant)	not provided	GLikely benign
Select item 1810721	NM_018834.6(MATR3):c.2494-11T>C	MATR3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 351143	NM_018834.6(MATR3):c.2521C>T (p.Arg841Cys)	MATR3 (R841C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1464128	NM_018834.6(MATR3):c.2530AAG[1] (p.Lys845del)	MATR3 (K507del +2 more)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 351149	NM_018834.6(MATR3):c.*177A>G	MATR3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 351150	NM_018834.6(MATR3):c.*275C>T	MATR3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 3360840	NM_018834.6(MATR3):c.844del (p.His282fs)	MATR3 (H282fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance

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Items: 45