ClinVar Miner

List of variants in gene PLA2G6 reported as pathogenic for Infantile neuroaxonal dystrophy

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Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) rs530348521 0.00004
NM_003560.4(PLA2G6):c.1187-1G>A rs1477656610 0.00003
NM_003560.4(PLA2G6):c.1612C>T (p.Arg538Cys) rs370691849 0.00003
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
NM_003560.4(PLA2G6):c.1262del (p.Val421fs) rs1282370486 0.00002
NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg) rs121908681 0.00002
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp) rs121908683 0.00002
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His) rs587784349 0.00002
NM_003560.4(PLA2G6):c.2341G>A (p.Ala781Thr) rs139093920 0.00002
NC_000022.10:g.38522454delG rs587784329 0.00001
NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro) rs1403125636 0.00001
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=) rs368497893 0.00001
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter) rs200075782 0.00001
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090 0.00001
NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln) rs587784330 0.00001
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln) rs587784332 0.00001
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His) rs535486098 0.00001
NM_003560.4(PLA2G6):c.1627C>T (p.Arg543Cys) rs753874848 0.00001
NM_003560.4(PLA2G6):c.1771C>T (p.Arg591Trp) rs1043378899 0.00001
NM_003560.4(PLA2G6):c.1798C>T (p.Arg600Trp) rs368008077 0.00001
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter) rs587784339 0.00001
NM_003560.4(PLA2G6):c.1933C>T (p.Arg645Ter) rs1484455290 0.00001
NM_003560.4(PLA2G6):c.1957G>A (p.Gly653Ser) rs754204295 0.00001
NM_003560.4(PLA2G6):c.1974C>A (p.Asn658Lys) rs1048444597 0.00001
NM_003560.4(PLA2G6):c.2032A>G (p.Lys678Glu) rs2087135251 0.00001
NM_003560.4(PLA2G6):c.2035-2A>G rs1602057157 0.00001
NM_003560.4(PLA2G6):c.208C>T (p.Arg70Ter) rs886039552 0.00001
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) rs587784347 0.00001
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp) rs587784350 0.00001
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr) rs121908685 0.00001
NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu) rs121908682 0.00001
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) rs587784363 0.00001
GRCh37/hg19 22q13.1(chr22:38565225-38565434)
NC_000022.10:g.(?_38528818)_(38536196_?)del
NC_000022.10:g.(?_38528818)_(38539315_?)dup
NC_000022.10:g.(?_38535969)_(38536196_?)del
NC_000022.10:g.(?_38565205)_(38565433_?)del
NC_000022.11:g.(?_38132114)_(38135084_?)del
NC_000022.11:g.(?_38169198)_(38169446_?)del
NG_007094.1:g.(45669_45717)_(52301_52349)del
NM_003560.4(PLA2G6):c.1039G>A (p.Gly347Arg) rs1569263730
NM_003560.4(PLA2G6):c.1069G>A (p.Ala357Thr) rs2145770192
NM_003560.4(PLA2G6):c.1117G>A (p.Gly373Arg) rs587784327
NM_003560.4(PLA2G6):c.1117G>C (p.Gly373Arg)
NM_003560.4(PLA2G6):c.1186+1G>A rs761815070
NM_003560.4(PLA2G6):c.1186+1G>T
NM_003560.4(PLA2G6):c.1213_1214del (p.Leu405fs)
NM_003560.4(PLA2G6):c.1233del (p.Glu412fs)
NM_003560.4(PLA2G6):c.1294del (p.His432fs)
NM_003560.4(PLA2G6):c.1435C>G (p.His479Asp) rs1235695530
NM_003560.4(PLA2G6):c.1460del (p.Gly487fs)
NM_003560.4(PLA2G6):c.1474_1478del (p.Ile492fs) rs2145722213
NM_003560.4(PLA2G6):c.1501G>T (p.Glu501Ter)
NM_003560.4(PLA2G6):c.1511C>T (p.Ser504Leu)
NM_003560.4(PLA2G6):c.1524dup (p.Lys509fs)
NM_003560.4(PLA2G6):c.1547_1548dup (p.Gly517fs) rs1555988204
NM_003560.4(PLA2G6):c.1592-2A>C rs1465629909
NM_003560.4(PLA2G6):c.164G>A (p.Trp55Ter) rs1177564212
NM_003560.4(PLA2G6):c.1666G>T (p.Glu556Ter)
NM_003560.4(PLA2G6):c.1670C>T (p.Ser557Leu)
NM_003560.4(PLA2G6):c.1670dup (p.Pro559fs)
NM_003560.4(PLA2G6):c.1743-1G>C rs1555979401
NM_003560.4(PLA2G6):c.1765_1768del (p.Ser589fs)
NM_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln) rs776713955
NM_003560.4(PLA2G6):c.1797C>G (p.Phe599Leu) rs1555979298
NM_003560.4(PLA2G6):c.1798del (p.Arg600fs)
NM_003560.4(PLA2G6):c.1833dup (p.Arg612fs)
NM_003560.4(PLA2G6):c.1880-1G>C rs1025497590
NM_003560.4(PLA2G6):c.1882C>T (p.Gln628Ter)
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) rs387906863
NM_003560.4(PLA2G6):c.1931del (p.Phe644fs) rs1569243565
NM_003560.4(PLA2G6):c.1969G>A (p.Ala657Thr) rs1318351016
NM_003560.4(PLA2G6):c.196_197del (p.Gln66fs)
NM_003560.4(PLA2G6):c.1974C>G (p.Asn658Lys)
NM_003560.4(PLA2G6):c.1982C>T (p.Thr661Met)
NM_003560.4(PLA2G6):c.1A>G (p.Met1Val)
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del) rs587784343
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter) rs587784346
NM_003560.4(PLA2G6):c.2144G>A (p.Trp715Ter)
NM_003560.4(PLA2G6):c.217C>T (p.Gln73Ter) rs1556032708
NM_003560.4(PLA2G6):c.2223_2224del (p.Ala742fs)
NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)
NM_003560.4(PLA2G6):c.2251G>T (p.Glu751Ter) rs1296348337
NM_003560.4(PLA2G6):c.2276+1G>A rs1397030516
NM_003560.4(PLA2G6):c.2276+1G>C
NM_003560.4(PLA2G6):c.2327_2328del (p.Thr776fs) rs587784352
NM_003560.4(PLA2G6):c.2349G>A (p.Trp783Ter) rs775386225
NM_003560.4(PLA2G6):c.312_313del (p.Glu105fs)
NM_003560.4(PLA2G6):c.3G>T (p.Met1Ile) rs764959600
NM_003560.4(PLA2G6):c.437dup (p.Cys146fs) rs1216972369
NM_003560.4(PLA2G6):c.496dup (p.Glu166fs)
NM_003560.4(PLA2G6):c.533_536del (p.Gln178fs) rs2089023572
NM_003560.4(PLA2G6):c.552C>G (p.Tyr184Ter)
NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr) rs587784359
NM_003560.4(PLA2G6):c.755del (p.Asn252fs) rs587784361
NM_003560.4(PLA2G6):c.801_802dup (p.Ala268fs)
NM_003560.4(PLA2G6):c.853dup (p.Arg285fs)
NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr) rs199935023
NM_003560.4(PLA2G6):c.[2356G>A;668C>A]
Single allele

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