"Illumina Laboratory Services, Illumina"[submitter] AND "MATR3"[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369449	NM_199189.2(MATR3):c.-784G>A	LOC129994754, MATR3	Single nucleotide variant	Distal myopathy	GLikely benign
Select item 351109	NM_199189.2(MATR3):c.-649C>T	MATR3	Single nucleotide variant (genic downstream transcript variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351110	NM_199189.2(MATR3):c.-643A>G	MATR3	Single nucleotide variant (genic downstream transcript variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351111	NM_199189.2(MATR3):c.-610C>G	MATR3	Single nucleotide variant	Amyotrophic lateral sclerosis type 21	GBenign
Select item 904479	NM_199189.2(MATR3):c.-563T>C	MATR3	Single nucleotide variant	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 904480	NM_199189.3(MATR3):c.-422C>T	LOC129994755, MATR3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351112	NM_199189.3(MATR3):c.-247C>T	MATR3, SNHG4	Single nucleotide variant (non-coding transcript variant +2 more)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351115	NM_018834.6(MATR3):c.-139G>A	MATR3	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351116	NM_018834.6(MATR3):c.-124T>C	MATR3	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351117	NM_018834.6(MATR3):c.-103dup	MATR3	Duplication (5 prime UTR variant +1 more)	Distal myopathy +1 more	GBenign
Select item 351118	NM_018834.6(MATR3):c.-56G>A	MATR3	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
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 351119	NM_018834.6(MATR3):c.-5C>G	MATR3	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351120	NM_018834.6(MATR3):c.15C>T (p.Phe5=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 905261	NM_018834.6(MATR3):c.69G>A (p.Ala23=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GBenign/Likely benign
Select item 351121	NM_018834.6(MATR3):c.291A>G (p.Leu97=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	MATR3-related condition +2 more	GBenign/Likely benign
Select item 351122	NM_018834.6(MATR3):c.305G>A (p.Arg102His)	MATR3 (R102H)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21 +1 more	GUncertain significance
Select item 351123	NM_018834.6(MATR3):c.393C>A (p.Asp131Glu)	MATR3 (D131E)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 906860	NM_018834.6(MATR3):c.675A>G (p.Arg225=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GConflicting classifications of pathogenicity
Select item 651450	NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr)	MATR3 (A90T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 907852	NM_018834.6(MATR3):c.1179A>G (p.Arg393=)	MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351127	NM_018834.6(MATR3):c.1183-5G>A	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 904538	NM_018834.6(MATR3):c.1235G>A (p.Arg412Lys)	MATR3 (R74K +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351126	NM_018834.6(MATR3):c.1347C>T (p.Ala449=)	MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 263208	NM_018834.6(MATR3):c.1602+6A>G	MATR3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 351128	NM_018834.6(MATR3):c.1734+11T>G	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GConflicting classifications of pathogenicity
Select item 351130	NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu)	LOC126807526, MATR3 (Q627E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 351132	NM_018834.6(MATR3):c.1954C>T (p.Leu652Phe)	LOC126807526, MATR3 (L652F +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351133	NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala)	LOC126807526, MATR3 (E664A +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GConflicting classifications of pathogenicity
Select item 351134	NM_018834.6(MATR3):c.2031C>T (p.Asp677=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GConflicting classifications of pathogenicity
Select item 781861	NM_018834.6(MATR3):c.2114G>T (p.Ser705Ile)	LOC126807526, MATR3 (S367I +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GConflicting classifications of pathogenicity
Select item 474082	NM_018834.6(MATR3):c.2191T>C (p.Leu731=)	MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21 +1 more	GBenign
Select item 906938	NM_018834.6(MATR3):c.2233G>C (p.Ala745Pro)	MATR3 (A457P +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351136	NM_018834.6(MATR3):c.2242T>C (p.Ser748Pro)	MATR3 (S748P +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 723148	NM_018834.6(MATR3):c.2271T>C (p.Asp757=)	MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GBenign/Likely benign
Select item 351137	NM_018834.6(MATR3):c.2283C>T (p.Asn761=)	MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 906939	NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys)	MATR3 (Y485C +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21 +1 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 +2 more	GBenign/Likely benign
Select item 351139	NM_018834.6(MATR3):c.2493+7_2493+9del	MATR3	Deletion (intron variant)	Distal myopathy	GUncertain significance
Select item 351141	NM_018834.6(MATR3):c.2494-14C>A	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351142	NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser)	MATR3 (N835S +2 more)	Single nucleotide variant (missense variant)	MATR3-related condition +1 more	GConflicting classifications of pathogenicity
Select item 351143	NM_018834.6(MATR3):c.2521C>T (p.Arg841Cys)	MATR3 (R841C +2 more)	Single nucleotide variant (missense variant)	MATR3-related condition +2 more	GBenign/Likely benign
Select item 351144	NM_018834.6(MATR3):c.2543A>G (p.Ter848=)	MATR3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 351145	NM_018834.6(MATR3):c.*60A>G	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351146	NM_018834.6(MATR3):c.86_89del	MATR3	Deletion (3 prime UTR variant)	Distal myopathy	GLikely benign
Select item 351147	NM_018834.6(MATR3):c.*97C>G	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 904615	NM_018834.6(MATR3):c.*138T>C	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351148	NM_018834.6(MATR3):c.*175AT[1]	MATR3	Microsatellite (3 prime UTR variant)	Distal myopathy	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 904616	NM_018834.6(MATR3):c.*262A>G	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
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 351151	NM_018834.6(MATR3):c.*305A>C	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351152	NM_018834.6(MATR3):c.*313A>G	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351153	NM_018834.6(MATR3):c.*406A>G	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351154	NM_018834.6(MATR3):c.*413A>T	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 905405	NM_018834.6(MATR3):c.*441C>G	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 905406	NM_018834.6(MATR3):c.*487C>T	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 905407	NM_018834.6(MATR3):c.*493T>C	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351155	NM_018834.6(MATR3):c.*496C>T	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351156	NM_018834.6(MATR3):c.*587A>G	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351157	NM_018834.6(MATR3):c.*640A>G	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351158	NM_018834.6(MATR3):c.*672G>A	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351159	NM_018834.6(MATR3):c.*708T>C	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351160	NM_018834.6(MATR3):c.*747G>C	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351161	NM_018834.6(MATR3):c.*769G>A	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351162	NM_018834.6(MATR3):c.*770A>G	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 905920	NM_018834.6(MATR3):c.*857C>T	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351163	NM_018834.6(MATR3):c.*929G>A	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351164	NM_018834.6(MATR3):c.*1076T>C	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351165	NM_018834.6(MATR3):c.*1087G>C	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351166	NM_018834.6(MATR3):c.*1111T>C	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 907990	NM_018834.6(MATR3):c.*1143G>A	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351167	NM_018834.6(MATR3):c.*1239A>G	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351168	NM_018834.6(MATR3):c.*1259G>C	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351169	NM_018834.6(MATR3):c.*1278T>C	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351170	NM_018834.6(MATR3):c.*1288T>G	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351171	NM_018834.6(MATR3):c.*1394G>A	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351172	NM_018834.6(MATR3):c.*1425C>G	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351173	NM_018834.6(MATR3):c.*1482A>T	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 904678	NM_018834.6(MATR3):c.*1535A>G	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351174	NM_018834.6(MATR3):c.*1633T>C	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351175	NM_018834.6(MATR3):c.*1757T>C	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351176	NM_018834.6(MATR3):c.*1767C>T	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351177	NM_018834.6(MATR3):c.1810_1812del	MATR3	Deletion (3 prime UTR variant)	Distal myopathy	GLikely benign
Select item 351178	NM_018834.6(MATR3):c.*1821T>G	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351179	NM_018834.6(MATR3):c.*1891T>G	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351180	NM_018834.6(MATR3):c.*1999G>T	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 904679	NM_018834.6(MATR3):c.*2054T>A	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351181	NM_018834.6(MATR3):c.*2077A>C	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 905469	NM_018834.6(MATR3):c.*2098A>G	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 905470	NM_018834.6(MATR3):c.*2142G>A	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 905471	NM_018834.6(MATR3):c.*2170T>G	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351182	NM_018834.6(MATR3):c.*2171C>T	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351183	NM_018834.6(MATR3):c.*2174C>T	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351184	NM_018834.6(MATR3):c.*2194T>A	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351185	NM_018834.6(MATR3):c.*2200C>T	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351186	NM_018834.6(MATR3):c.*2222G>T	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351187	NM_018834.6(MATR3):c.*2241A>G	MATR3	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 988915	GRCh37/hg19 5q31.2(chr5:137754277-138994590)x1	CTNNA1, DNAJC18 +17 more	Copy number loss	not provided	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 100