ClinVar for Gene (Select 126807526) - ClinVar

Links from Gene

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3013472	NM_018834.6(MATR3):c.2035A>G (p.Thr679Ala)	LOC126807526, MATR3 (T341A +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21 +1 more	GUncertain significance
Select item 2996096	NM_018834.6(MATR3):c.2076A>G (p.Lys692=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2911348	NM_018834.6(MATR3):c.2148+9A>G	LOC126807526, MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2898736	NM_018834.6(MATR3):c.2148+3A>G	LOC126807526, MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2867674	NM_018834.6(MATR3):c.2075A>G (p.Lys692Arg)	LOC126807526, MATR3 (K354R +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2827086	NM_018834.6(MATR3):c.1971G>C (p.Glu657Asp)	LOC126807526, MATR3 (E370D +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2822090	NM_018834.6(MATR3):c.2128G>T (p.Ala710Ser)	LOC126807526, MATR3 (A422S +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2798988	NM_018834.6(MATR3):c.1899A>G (p.Glu633=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2759018	NM_018834.6(MATR3):c.2046T>A (p.Ala682=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2755131	NM_018834.6(MATR3):c.1925A>G (p.Asp642Gly)	LOC126807526, MATR3 (D304G +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2752165	NM_018834.6(MATR3):c.1920G>A (p.Lys640=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2751282	NM_018834.6(MATR3):c.1736T>A (p.Ile579Asn)	LOC126807526, MATR3 (I279N +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2748236	NM_018834.6(MATR3):c.1812T>A (p.Ser604=)	MATR3, LOC126807526	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2744666	NM_018834.6(MATR3):c.1813C>T (p.Pro605Ser)	LOC126807526, MATR3 (P305S +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2739676	NM_018834.6(MATR3):c.2148+17T>A	LOC126807526, MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2718315	NM_018834.6(MATR3):c.1839T>C (p.Asp613=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2710018	NM_018834.6(MATR3):c.1924G>A (p.Asp642Asn)	LOC126807526, MATR3 (D304N +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2655728	NM_018834.6(MATR3):c.1816A>G (p.Ser606Gly)	LOC126807526, MATR3 (S268G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420321	NM_018834.6(MATR3):c.2107G>A (p.Asp703Asn)	LOC126807526, MATR3 (D365N +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2194566	NM_018834.6(MATR3):c.2072G>A (p.Gly691Glu)	LOC126807526, MATR3 (G391E +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21 +1 more	GUncertain significance
Select item 2180810	NM_018834.6(MATR3):c.1908G>A (p.Glu636=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2164873	NM_018834.6(MATR3):c.1735-19C>G	LOC126807526, MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2155065	NM_018834.6(MATR3):c.1894G>A (p.Gly632Ser)	LOC126807526, MATR3 (G294S +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2147336	NM_018834.6(MATR3):c.2060T>G (p.Val687Gly)	LOC126807526, MATR3 (V399G +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2131641	NM_018834.6(MATR3):c.2148+14C>G	LOC126807526, MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2129732	NM_018834.6(MATR3):c.2016C>G (p.Gly672=)	MATR3, LOC126807526	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2118422	NM_018834.6(MATR3):c.1799A>G (p.Asp600Gly)	LOC126807526, MATR3 (D300G +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2098365	NM_018834.6(MATR3):c.1948A>G (p.Met650Val)	LOC126807526, MATR3 (M350V +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2047917	NM_018834.6(MATR3):c.1929G>T (p.Gln643His)	LOC126807526, MATR3 (Q305H +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2047424	NM_018834.6(MATR3):c.1861T>G (p.Ser621Ala)	LOC126807526, MATR3 (S283A +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2040368	NM_018834.6(MATR3):c.2113A>T (p.Ser705Cys)	LOC126807526, MATR3 (S417C +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2037063	NM_018834.6(MATR3):c.1779-19T>G	LOC126807526, MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2035691	NM_018834.6(MATR3):c.1854T>A (p.Thr618=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1981136	NM_018834.6(MATR3):c.1878A>T (p.Glu626Asp)	LOC126807526, MATR3 (E338D +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1934947	NM_018834.6(MATR3):c.1927C>A (p.Gln643Lys)	LOC126807526, MATR3 (Q356K +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1637194	NM_018834.6(MATR3):c.1779-20GT[2]	LOC126807526, MATR3	Microsatellite (intron variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 1630824	NM_018834.6(MATR3):c.1914C>T (p.Asp638=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1607389	NM_018834.6(MATR3):c.1972C>T (p.Leu658=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1581936	NM_018834.6(MATR3):c.1778+17T>C	LOC126807526, MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1575058	NM_018834.6(MATR3):c.1735-11T>C	LOC126807526, MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1574001	NM_018834.6(MATR3):c.1735-18A>C	LOC126807526, MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1568259	NM_018834.6(MATR3):c.1803C>G (p.Gly601=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1532420	NM_018834.6(MATR3):c.1778+19del	LOC126807526, MATR3	Deletion (intron variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 1514491	NM_018834.6(MATR3):c.1949T>C (p.Met650Thr)	LOC126807526, MATR3 (M650T +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1503590	NM_018834.6(MATR3):c.1913A>C (p.Asp638Ala)	LOC126807526, MATR3 (D638A +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1463906	NM_018834.6(MATR3):c.1915A>T (p.Thr639Ser)	LOC126807526, MATR3 (T301S +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1447853	NM_018834.6(MATR3):c.1997C>T (p.Ala666Val)	LOC126807526, MATR3 (A328V +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1426130	NM_018834.6(MATR3):c.1847A>G (p.Gln616Arg)	LOC126807526, MATR3 (Q278R +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1417532	NM_018834.6(MATR3):c.1915A>G (p.Thr639Ala)	LOC126807526, MATR3 (T639A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1399904	NM_018834.6(MATR3):c.1929G>C (p.Gln643His)	LOC126807526, MATR3 (Q355H +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1390229	NM_018834.6(MATR3):c.2135A>G (p.Lys712Arg)	LOC126807526, MATR3 (K712R +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21 +1 more	GUncertain significance
Select item 1387469	NM_018834.6(MATR3):c.1880A>G (p.Gln627Arg)	LOC126807526, MATR3 (Q289R +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1366676	NM_018834.6(MATR3):c.2120C>T (p.Ser707Leu)	LOC126807526, MATR3 (S707L +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1312850	NM_018834.6(MATR3):c.2048_2050del (p.Asn683_Leu684delinsIle)	LOC126807526, MATR3	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 1227443	NM_018834.6(MATR3):c.2148+253_2148+254insTGA	LOC126807526, MATR3	Insertion (intron variant)	not provided	GBenign
Select item 1206341	NM_018834.6(MATR3):c.2148+2_2148+3insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA	LOC126807526, MATR3	Insertion (intron variant)	not provided	GLikely benign
Select item 1200159	NM_018834.6(MATR3):c.2148+158A>G	LOC126807526, MATR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178554	NM_018834.6(MATR3):c.1735-208C>A	LOC126807526, MATR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175643	NM_018834.6(MATR3):c.2148+190T>G	LOC126807526, MATR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1163259	NM_018834.6(MATR3):c.2128G>A (p.Ala710Thr)	LOC126807526, MATR3 (A372T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1080570	NM_018834.6(MATR3):c.1917A>G (p.Thr639=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1060802	NM_018834.6(MATR3):c.2133G>C (p.Lys711Asn)	LOC126807526, MATR3 (K373N +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1006812	NM_018834.6(MATR3):c.2038G>C (p.Asp680His)	LOC126807526, MATR3 (D342H +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 965833	NM_018834.6(MATR3):c.1778+5T>C	LOC126807526, MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 937895	NM_018834.6(MATR3):c.1904G>A (p.Gly635Asp)	LOC126807526, MATR3 (G347D +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 862631	NM_018834.6(MATR3):c.1885_1887del (p.Glu629del)	LOC126807526, MATR3 (E341del +2 more)	Deletion (inframe_deletion)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 842173	NM_018834.6(MATR3):c.2066C>A (p.Ser689Tyr)	LOC126807526, MATR3 (S401Y +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 790946	NM_018834.6(MATR3):c.2148+8_2148+11del	LOC126807526, MATR3	Microsatellite (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
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 772658	NM_018834.6(MATR3):c.1866C>T (p.Thr622=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 771597	NM_018834.6(MATR3):c.1778+3A>G	LOC126807526, MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GConflicting classifications of pathogenicity
Select item 753128	NM_018834.6(MATR3):c.1773A>G (p.Lys591=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728398	NM_018834.6(MATR3):c.1947T>C (p.Asn649=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 727043	NM_018834.6(MATR3):c.1938G>A (p.Gln646=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	MATR3-related condition +1 more	GLikely benign
Select item 644662	NM_018834.6(MATR3):c.1874A>C (p.Lys625Thr)	LOC126807526, MATR3 (K287T +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 578787	NM_018834.6(MATR3):c.1948A>C (p.Met650Leu)	LOC126807526, MATR3 (M650L +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 541139	NM_018834.6(MATR3):c.1896T>C (p.Gly632=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 541138	NM_018834.6(MATR3):c.1953T>C (p.Leu651=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	MATR3-related condition +1 more	GLikely benign
Select item 474081	NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn)	LOC126807526, MATR3 (D680N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 474080	NM_018834.6(MATR3):c.1912G>C (p.Asp638His)	MATR3, LOC126807526 (D638H +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
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 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 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 351131	NM_018834.6(MATR3):c.1893C>T (p.Ser631=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 351130	NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu)	MATR3, LOC126807526 (Q627E +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GConflicting classifications of pathogenicity
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 147882	GRCh38/hg38 5q31.2(chr5:139103408-139683294)x3	CXXC5, CXXC5-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ANKHD1, ANKHD1-DT +224 more	Copy number gain	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 126562	NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala)	LOC126807526, MATR3 (T622A +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
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 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 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 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

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Items: 94