ClinVar Miner

List of variants reported as uncertain significance for amyotrophic lateral sclerosis type 21 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 192
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HGVS dbSNP gnomAD frequency
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr) rs201075828 0.00017
NM_018834.6(MATR3):c.2234C>T (p.Ala745Val) rs199797401 0.00015
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser) rs201165929 0.00015
NM_018834.6(MATR3):c.2264A>G (p.Asn755Ser) rs144637575 0.00009
NM_199189.3(MATR3):c.-339+2T>A rs539017488 0.00009
NM_018834.6(MATR3):c.2374A>G (p.Ile792Val) rs766453846 0.00006
NM_018834.6(MATR3):c.1778+5T>C rs377212154 0.00004
NM_018834.6(MATR3):c.1915A>G (p.Thr639Ala) rs765603068 0.00004
NM_018834.6(MATR3):c.2314G>A (p.Asp772Asn) rs774070119 0.00004
NM_018834.6(MATR3):c.561T>G (p.Asp187Glu) rs374819399 0.00004
NM_018834.6(MATR3):c.2135A>G (p.Lys712Arg) rs750375963 0.00003
NM_018834.6(MATR3):c.2273C>A (p.Thr758Lys) rs757346695 0.00003
NM_018834.6(MATR3):c.2282A>G (p.Asn761Ser) rs758675030 0.00003
NM_018834.6(MATR3):c.379C>T (p.Arg127Cys) rs768516057 0.00003
NM_018834.6(MATR3):c.1366A>G (p.Thr456Ala) rs748098389 0.00002
NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn) rs752161415 0.00002
NM_018834.6(MATR3):c.2128G>A (p.Ala710Thr) rs1314919388 0.00002
NM_018834.6(MATR3):c.2242T>C (p.Ser748Pro) rs772562504 0.00002
NM_018834.6(MATR3):c.2251G>A (p.Ala751Thr) rs774158046 0.00002
NM_018834.6(MATR3):c.2525G>C (p.Arg842Thr) rs749235364 0.00002
NM_018834.6(MATR3):c.620G>A (p.Arg207His) rs749335257 0.00002
NM_018834.6(MATR3):c.1139A>G (p.Asn380Ser) rs948428305 0.00001
NM_018834.6(MATR3):c.1187C>G (p.Thr396Ser) rs1755320528 0.00001
NM_018834.6(MATR3):c.1235G>A (p.Arg412Lys) rs1291862870 0.00001
NM_018834.6(MATR3):c.1348G>A (p.Ala450Thr) rs779612686 0.00001
NM_018834.6(MATR3):c.1363A>G (p.Thr455Ala) rs781213918 0.00001
NM_018834.6(MATR3):c.1435-10T>C rs772340385 0.00001
NM_018834.6(MATR3):c.1464T>A (p.Phe488Leu) rs777025841 0.00001
NM_018834.6(MATR3):c.1636A>G (p.Met546Val) rs1412628714 0.00001
NM_018834.6(MATR3):c.1638G>A (p.Met546Ile) rs748592981 0.00001
NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala) rs587777301 0.00001
NM_018834.6(MATR3):c.1874A>C (p.Lys625Thr) rs1488614478 0.00001
NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu) rs772231433 0.00001
NM_018834.6(MATR3):c.1885_1887del (p.Glu629del) rs1186297721 0.00001
NM_018834.6(MATR3):c.1949T>C (p.Met650Thr) rs1176347654 0.00001
NM_018834.6(MATR3):c.1997C>T (p.Ala666Val) rs1261252930 0.00001
NM_018834.6(MATR3):c.2120C>T (p.Ser707Leu) rs1228960452 0.00001
NM_018834.6(MATR3):c.2155A>G (p.Lys719Glu) rs759928245 0.00001
NM_018834.6(MATR3):c.2161G>A (p.Glu721Lys) rs764645698 0.00001
NM_018834.6(MATR3):c.2180A>G (p.Asn727Ser) rs1468138513 0.00001
NM_018834.6(MATR3):c.2213A>G (p.Glu738Gly) rs538917496 0.00001
NM_018834.6(MATR3):c.2227C>T (p.Pro743Ser) rs1452954379 0.00001
NM_018834.6(MATR3):c.2357C>G (p.Pro786Arg) rs765284792 0.00001
NM_018834.6(MATR3):c.2372-3dup rs1561945483 0.00001
NM_018834.6(MATR3):c.2507A>C (p.Lys836Thr) rs912142064 0.00001
NM_018834.6(MATR3):c.256A>G (p.Ile86Val) rs201277902 0.00001
NM_018834.6(MATR3):c.304C>T (p.Arg102Cys) rs1327023414 0.00001
NM_018834.6(MATR3):c.322G>T (p.Ala108Ser) rs745440760 0.00001
NM_018834.6(MATR3):c.325A>G (p.Ser109Gly) rs1255035245 0.00001
NM_018834.6(MATR3):c.329A>C (p.Asn110Thr) rs1433371817 0.00001
NM_018834.6(MATR3):c.344T>G (p.Phe115Cys) rs587777300 0.00001
NM_018834.6(MATR3):c.393C>A (p.Asp131Glu) rs761842979 0.00001
NM_018834.6(MATR3):c.689G>T (p.Cys230Phe) rs200871699 0.00001
NM_018834.6(MATR3):c.769C>G (p.Pro257Ala) rs774478774 0.00001
NM_018834.6(MATR3):c.827G>A (p.Ser276Asn) rs762374587 0.00001
NM_018834.6(MATR3):c.898G>A (p.Val300Ile) rs1307308858 0.00001
NM_018834.6(MATR3):c.960G>T (p.Gln320His) rs773617455 0.00001
NC_000005.9:g.(?_138608441)_(138668366_?)del
NC_000005.9:g.(?_138643105)_(138644036_?)dup
NC_000005.9:g.(?_138643105)_(138665084_?)dup
NM_018834.6(MATR3):c.1003A>G (p.Thr335Ala)
NM_018834.6(MATR3):c.1013C>G (p.Thr338Arg)
NM_018834.6(MATR3):c.1090C>T (p.His364Tyr) rs1561938220
NM_018834.6(MATR3):c.112A>G (p.Met38Val)
NM_018834.6(MATR3):c.1130-15T>A
NM_018834.6(MATR3):c.1130-15T>C
NM_018834.6(MATR3):c.1130-8C>G
NM_018834.6(MATR3):c.1165A>G (p.Met389Val)
NM_018834.6(MATR3):c.1182+4A>C rs2151988816
NM_018834.6(MATR3):c.1246T>A (p.Leu416Ile)
NM_018834.6(MATR3):c.1273A>G (p.Ile425Val)
NM_018834.6(MATR3):c.1328C>A (p.Thr443Asn) rs2151995266
NM_018834.6(MATR3):c.1343A>G (p.Gln448Arg)
NM_018834.6(MATR3):c.1344G>C (p.Gln448His)
NM_018834.6(MATR3):c.1345G>T (p.Ala449Ser)
NM_018834.6(MATR3):c.1355A>G (p.Asp452Gly)
NM_018834.6(MATR3):c.1356T>G (p.Asp452Glu)
NM_018834.6(MATR3):c.1486C>A (p.Arg496Ser)
NM_018834.6(MATR3):c.1486C>T (p.Arg496Cys)
NM_018834.6(MATR3):c.1498C>T (p.Leu500Phe)
NM_018834.6(MATR3):c.1531A>T (p.Ser511Cys)
NM_018834.6(MATR3):c.1555delinsAACTTT (p.Pro519fs)
NM_018834.6(MATR3):c.1572G>T (p.Lys524Asn) rs1581251198
NM_018834.6(MATR3):c.1598G>A (p.Ser533Asn) rs1033118784
NM_018834.6(MATR3):c.1617G>A (p.Met539Ile) rs2152007107
NM_018834.6(MATR3):c.1642A>G (p.Met548Val)
NM_018834.6(MATR3):c.1654T>A (p.Cys552Ser) rs2152007192
NM_018834.6(MATR3):c.1658T>C (p.Leu553Ser)
NM_018834.6(MATR3):c.1736T>A (p.Ile579Asn)
NM_018834.6(MATR3):c.1799A>G (p.Asp600Gly)
NM_018834.6(MATR3):c.1813C>T (p.Pro605Ser)
NM_018834.6(MATR3):c.1847A>G (p.Gln616Arg) rs2152009933
NM_018834.6(MATR3):c.184T>A (p.Ser62Thr) rs1357612214
NM_018834.6(MATR3):c.1861T>G (p.Ser621Ala)
NM_018834.6(MATR3):c.1878A>T (p.Glu626Asp)
NM_018834.6(MATR3):c.1880A>G (p.Gln627Arg) rs2152010076
NM_018834.6(MATR3):c.1894G>A (p.Gly632Ser)
NM_018834.6(MATR3):c.1904G>A (p.Gly635Asp) rs1755638457
NM_018834.6(MATR3):c.1912G>C (p.Asp638His) rs1554148872
NM_018834.6(MATR3):c.1913A>C (p.Asp638Ala) rs2152010206
NM_018834.6(MATR3):c.1915A>T (p.Thr639Ser) rs765603068
NM_018834.6(MATR3):c.1924G>A (p.Asp642Asn)
NM_018834.6(MATR3):c.1925A>G (p.Asp642Gly)
NM_018834.6(MATR3):c.1927C>A (p.Gln643Lys)
NM_018834.6(MATR3):c.1929G>C (p.Gln643His) rs553655919
NM_018834.6(MATR3):c.1929G>T (p.Gln643His)
NM_018834.6(MATR3):c.1948A>C (p.Met650Leu) rs749026971
NM_018834.6(MATR3):c.1948A>G (p.Met650Val)
NM_018834.6(MATR3):c.196C>A (p.Gln66Lys)
NM_018834.6(MATR3):c.1971G>C (p.Glu657Asp)
NM_018834.6(MATR3):c.2035A>G (p.Thr679Ala)
NM_018834.6(MATR3):c.2038G>C (p.Asp680His) rs752161415
NM_018834.6(MATR3):c.2060T>G (p.Val687Gly)
NM_018834.6(MATR3):c.2066C>A (p.Ser689Tyr) rs765251685
NM_018834.6(MATR3):c.2072G>A (p.Gly691Glu)
NM_018834.6(MATR3):c.2075A>G (p.Lys692Arg)
NM_018834.6(MATR3):c.2107G>A (p.Asp703Asn)
NM_018834.6(MATR3):c.2113A>T (p.Ser705Cys)
NM_018834.6(MATR3):c.2128G>T (p.Ala710Ser)
NM_018834.6(MATR3):c.2133G>C (p.Lys711Asn) rs2152010949
NM_018834.6(MATR3):c.2148+3A>G
NM_018834.6(MATR3):c.2149-5T>C
NM_018834.6(MATR3):c.2156A>G (p.Lys719Arg)
NM_018834.6(MATR3):c.2167C>T (p.Leu723Phe)
NM_018834.6(MATR3):c.2170G>C (p.Asp724His) rs1452903586
NM_018834.6(MATR3):c.2171A>T (p.Asp724Val) rs1235948155
NM_018834.6(MATR3):c.2181C>G (p.Asn727Lys) rs772833565
NM_018834.6(MATR3):c.2185G>A (p.Ala729Thr)
NM_018834.6(MATR3):c.2189C>G (p.Ala730Gly) rs762668138
NM_018834.6(MATR3):c.2192T>G (p.Leu731Trp)
NM_018834.6(MATR3):c.2203A>C (p.Ile735Leu)
NM_018834.6(MATR3):c.2203A>G (p.Ile735Val)
NM_018834.6(MATR3):c.2219A>G (p.Asn740Ser)
NM_018834.6(MATR3):c.2237A>G (p.Glu746Gly)
NM_018834.6(MATR3):c.2254GAT[1] (p.Asp753del) rs1016579955
NM_018834.6(MATR3):c.2279A>G (p.Glu760Gly)
NM_018834.6(MATR3):c.2300A>T (p.Asp767Val)
NM_018834.6(MATR3):c.2301T>A (p.Asp767Glu)
NM_018834.6(MATR3):c.2302_2304del (p.Glu768del)
NM_018834.6(MATR3):c.2310G>C (p.Lys770Asn) rs1755815403
NM_018834.6(MATR3):c.2317T>A (p.Tyr773Asn)
NM_018834.6(MATR3):c.2317T>G (p.Tyr773Asp)
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys) rs368217486
NM_018834.6(MATR3):c.2323A>G (p.Ile775Val)
NM_018834.6(MATR3):c.2326C>T (p.Pro776Ser) rs370051410
NM_018834.6(MATR3):c.2327C>T (p.Pro776Leu)
NM_018834.6(MATR3):c.233C>A (p.Thr78Asn)
NM_018834.6(MATR3):c.2348C>A (p.Pro783Gln)
NM_018834.6(MATR3):c.2363T>C (p.Val788Ala)
NM_018834.6(MATR3):c.2371+2_2371+3insATAGACTATGTGATACCTAAAACAG
NM_018834.6(MATR3):c.2377G>A (p.Asp793Asn)
NM_018834.6(MATR3):c.2473C>G (p.Pro825Ala)
NM_018834.6(MATR3):c.2483A>G (p.Gln828Arg) rs2152024424
NM_018834.6(MATR3):c.2493+3A>G rs2152024439
NM_018834.6(MATR3):c.2494-14_2494-11del
NM_018834.6(MATR3):c.2494-9_2494-8delinsAA
NM_018834.6(MATR3):c.2496A>G (p.Lys832=)
NM_018834.6(MATR3):c.2527C>G (p.Gln843Glu) rs2152033705
NM_018834.6(MATR3):c.2530AAG[1] (p.Lys845del) rs1232740498
NM_018834.6(MATR3):c.2533A>G (p.Lys845Glu)
NM_018834.6(MATR3):c.2539A>G (p.Thr847Ala)
NM_018834.6(MATR3):c.272G>A (p.Ser91Asn) rs1460343731
NM_018834.6(MATR3):c.298C>G (p.Gln100Glu)
NM_018834.6(MATR3):c.449C>G (p.Thr150Ser) rs2151960855
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser) rs587777302
NM_018834.6(MATR3):c.491C>T (p.Ser164Phe) rs1191529191
NM_018834.6(MATR3):c.493_495del (p.Ala165del) rs760040641
NM_018834.6(MATR3):c.499C>T (p.Arg167Trp) rs138894013
NM_018834.6(MATR3):c.532T>C (p.Trp178Arg)
NM_018834.6(MATR3):c.575G>A (p.Arg192His)
NM_018834.6(MATR3):c.580C>T (p.Pro194Ser) rs2151961098
NM_018834.6(MATR3):c.628_630del (p.Glu210del) rs1754795693
NM_018834.6(MATR3):c.687G>T (p.Arg229Ser)
NM_018834.6(MATR3):c.68C>T (p.Ala23Val)
NM_018834.6(MATR3):c.697G>A (p.Asp233Asn)
NM_018834.6(MATR3):c.719C>T (p.Ser240Leu) rs2151961434
NM_018834.6(MATR3):c.743G>T (p.Ser248Ile)
NM_018834.6(MATR3):c.749A>G (p.Tyr250Cys)
NM_018834.6(MATR3):c.752A>G (p.Glu251Gly)
NM_018834.6(MATR3):c.776C>T (p.Pro259Leu)
NM_018834.6(MATR3):c.786G>C (p.Glu262Asp)
NM_018834.6(MATR3):c.793C>A (p.Leu265Ile) rs1554146560
NM_018834.6(MATR3):c.815C>G (p.Ala272Gly)
NM_018834.6(MATR3):c.832A>G (p.Ile278Val) rs765718462
NM_018834.6(MATR3):c.857C>T (p.Pro286Leu) rs1318047828
NM_018834.6(MATR3):c.85C>T (p.Leu29Phe) rs1754770320
NM_018834.6(MATR3):c.878G>A (p.Cys293Tyr)
NM_018834.6(MATR3):c.883A>G (p.Ile295Val)
NM_018834.6(MATR3):c.88GCT[4] (p.Ala32_Thr33insAla)
NM_018834.6(MATR3):c.952C>A (p.Arg318=)
NM_018834.6(MATR3):c.975-9T>G
NM_018834.6(MATR3):c.998A>G (p.Asn333Ser)

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