"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harva - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2412777	NM_003560.4(PLA2G6):c.2389C>T (p.Gln797Ter)	PLA2G6 (Q565* +4 more)	Single nucleotide variant (nonsense)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 1303106	NM_003560.4(PLA2G6):c.2375A>C (p.His792Pro)	PLA2G6 (H560P +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +1 more	GUncertain significance
Select item 6201	NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer)	PLA2G6	Deletion (nonsense)	Iron accumulation in brain +6 more	GPathogenic/Likely pathogenic
Select item 6195	NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)	PLA2G6 (Y790* +4 more)	Single nucleotide variant (nonsense)	PLA2G6-related condition +11 more	GConflicting classifications of pathogenicity
Select item 1012262	NM_003560.4(PLA2G6):c.2356G>A (p.Glu786Lys)	PLA2G6 (E554K +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 1012697	NM_003560.4(PLA2G6):c.2349G>A (p.Trp783Ter)	PLA2G6 (W551* +4 more)	Single nucleotide variant (nonsense)	PLA2G6-associated neurodegeneration +2 more	GPathogenic/Likely pathogenic
Select item 1459239	NM_003560.4(PLA2G6):c.2341G>A (p.Ala781Thr)	PLA2G6 (A555T +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +1 more	GConflicting classifications of pathogenicity
Select item 1177288	NM_003560.4(PLA2G6):c.2287C>T (p.Gln763Ter)	PLA2G6 (Q531* +4 more)	Single nucleotide variant (nonsense)	Neurodegeneration with brain iron accumulation +1 more	GLikely pathogenic
Select item 504363	NM_003560.4(PLA2G6):c.2277-2A>C	PLA2G6	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2138447	NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)	PLA2G6 (E519K +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 1339155	NM_003560.4(PLA2G6):c.2249G>A (p.Cys750Tyr)	PLA2G6 (C518Y +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 6204	NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp)	PLA2G6 (R747W +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +4 more	GPathogenic/Likely pathogenic
Select item 265448	NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp)	PLA2G6 (R741W +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive Parkinson disease 14 +5 more	GPathogenic/Likely pathogenic
Select item 159761	NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His)	PLA2G6 (D739H +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +4 more	GConflicting classifications of pathogenicity
Select item 159760	NM_003560.4(PLA2G6):c.2202+5G>A	PLA2G6	Single nucleotide variant (intron variant)	PLA2G6-associated neurodegeneration +2 more	GUncertain significance
Select item 402191	NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His)	PLA2G6 (R656H +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 2412778	NM_003560.4(PLA2G6):c.2128del (p.Arg710fs)	PLA2G6 (R532fs +4 more)	Deletion (frameshift variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 159759	NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys)	PLA2G6 (R710C +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +2 more	GConflicting classifications of pathogenicity
Select item 159758	NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter)	PLA2G6 (Q700* +4 more)	Single nucleotide variant (nonsense)	PLA2G6-associated neurodegeneration +3 more	GConflicting classifications of pathogenicity
Select item 372976	NM_003560.4(PLA2G6):c.1979C>G (p.Pro660Arg)	PLA2G6 (P660R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1303473	NM_003560.4(PLA2G6):c.1974C>A (p.Asn658Lys)	PLA2G6 (N426K +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +2 more	GConflicting classifications of pathogenicity
Select item 1301347	NM_003560.4(PLA2G6):c.1957G>A (p.Gly653Ser)	PLA2G6 (G421S +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 1324926	NM_003560.4(PLA2G6):c.1912G>A (p.Gly638Arg)	PLA2G6 (G406R +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +1 more	GLikely pathogenic
Select item 30366	NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln)	PLA2G6 (R635Q +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +4 more	GConflicting classifications of pathogenicity
Select item 159749	NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter)	PLA2G6 (R635* +4 more)	Single nucleotide variant (nonsense)	PLA2G6-associated neurodegeneration +3 more	GPathogenic
Select item 1180788	NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val)	PLA2G6 (A401V +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +4 more	GConflicting classifications of pathogenicity
Select item 6199	NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp)	PLA2G6 (R632W +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +3 more	GPathogenic/Likely pathogenic
Select item 159748	NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)	PLA2G6 (R600Q +4 more)	Single nucleotide variant (missense variant)	PLA2G6-related condition +9 more	GPathogenic/Likely pathogenic
Select item 1197568	NM_003560.4(PLA2G6):c.1798C>T (p.Arg600Trp)	PLA2G6 (R368W +4 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation +3 more	GPathogenic/Likely pathogenic
Select item 803690	NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu)	PLA2G6 (P415L +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1298894	NM_003560.4(PLA2G6):c.1771C>T (p.Arg591Trp)	PLA2G6 (R359W +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2138448	NM_003560.4(PLA2G6):c.1765_1768del (p.Ser589fs)	PLA2G6 (S363fs +4 more)	Deletion (frameshift variant)	Infantile neuroaxonal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 159743	NM_003560.4(PLA2G6):c.1699G>A (p.Glu567Lys)	PLA2G6 (E567K +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +2 more	GConflicting classifications of pathogenicity
Select item 159742	NM_003560.4(PLA2G6):c.1674del (p.Leu560fs)	PLA2G6 (L334fs +4 more)	Deletion (frameshift variant)	PLA2G6-associated neurodegeneration +4 more	GPathogenic/Likely pathogenic
Select item 2196766	NM_003560.4(PLA2G6):c.1670C>T (p.Ser557Leu)	PLA2G6 (S325L +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 159741	NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg)	PLA2G6 (K545R +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +3 more	GPathogenic/Likely pathogenic
Select item 871834	NM_003560.4(PLA2G6):c.1627C>T (p.Arg543Cys)	PLA2G6 (R311C +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +2 more	GPathogenic/Likely pathogenic
Select item 159739	NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His)	PLA2G6 (R538H +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +4 more	GPathogenic/Likely pathogenic
Select item 159738	NM_003560.4(PLA2G6):c.1612C>T (p.Arg538Cys)	PLA2G6 (R538C +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +2 more	GConflicting classifications of pathogenicity
Select item 561085	NM_003560.4(PLA2G6):c.1592-2A>C	PLA2G6	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 423516	NM_003560.4(PLA2G6):c.1591+5G>C	PLA2G6	Single nucleotide variant (intron variant)	PLA2G6-associated neurodegeneration +1 more	GConflicting classifications of pathogenicity
Select item 2412646	NM_003560.4(PLA2G6):c.1549G>T (p.Gly517Cys)	PLA2G6 (G285C +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 2138449	NM_003560.4(PLA2G6):c.1547C>T (p.Ala516Val)	PLA2G6 (A284V +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 449896	NM_003560.4(PLA2G6):c.1532T>C (p.Leu511Pro)	PLA2G6 (L511P +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 803693	NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr)	PLA2G6 (A267T +4 more)	Single nucleotide variant (missense variant)	PLA2G6-related condition +2 more	GConflicting classifications of pathogenicity
Select item 159732	NM_003560.4(PLA2G6):c.1489C>T (p.Leu497Phe)	PLA2G6 (L497F +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +1 more	GConflicting classifications of pathogenicity
Select item 2412647	NM_003560.4(PLA2G6):c.1472T>G (p.Leu491Arg)	PLA2G6 (L313R +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +1 more	GUncertain significance
Select item 159731	NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln)	PLA2G6 (L481Q +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +3 more	GPathogenic/Likely pathogenic
Select item 2412648	NM_003560.4(PLA2G6):c.1427+2T>C	PLA2G6	Single nucleotide variant (splice donor variant)	PLA2G6-associated neurodegeneration	GPathogenic
Select item 437465	NM_003560.4(PLA2G6):c.1427+1G>A	PLA2G6	Single nucleotide variant (splice donor variant)	Autosomal recessive Parkinson disease 14 +4 more	GPathogenic/Likely pathogenic
Select item 159730	NC_000022.10:g.38522454delG	PLA2G6 (L273fs +4 more)	Deletion (frameshift variant)	PLA2G6-associated neurodegeneration +3 more	GPathogenic
Select item 813443	NM_003560.4(PLA2G6):c.1187-1G>A	PLA2G6	Single nucleotide variant (splice acceptor variant +1 more)	Infantile neuroaxonal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 635025	NM_003560.4(PLA2G6):c.1186+1G>A	PLA2G6	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 985636	NM_003560.4(PLA2G6):c.1111G>A (p.Val371Met)	PLA2G6 (V145M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely pathogenic
Select item 2412649	NM_003560.4(PLA2G6):c.1097T>A (p.Ile366Asn)	PLA2G6 (I140N +2 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 2412650	NM_003560.4(PLA2G6):c.1078-3C>A	PLA2G6	Single nucleotide variant (intron variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 279875	NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=)	PLA2G6	Single nucleotide variant (synonymous variant)	PLA2G6-associated neurodegeneration +4 more	GPathogenic/Likely pathogenic
Select item 159726	NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu)	PLA2G6 (P353L +2 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +2 more	GConflicting classifications of pathogenicity
Select item 987077	NM_003560.4(PLA2G6):c.1021G>A (p.Ala341Thr)	PLA2G6 (A115T +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2412651	NM_003560.4(PLA2G6):c.1018G>A (p.Gly340Arg)	PLA2G6 (G162R +2 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 522939	NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn)	PLA2G6 (D331N +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 30371	NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr)	PLA2G6 (D331Y +2 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +2 more	GPathogenic
Select item 159784	NM_003560.4(PLA2G6):c.986G>A (p.Arg329His)	PLA2G6 (R329H +2 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +3 more	GConflicting classifications of pathogenicity
Select item 6197	NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu)	PLA2G6 (V310E +2 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 1217847	NM_003560.4(PLA2G6):c.848A>G (p.Asp283Gly)	PLA2G6 (D105G +2 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +2 more	GConflicting classifications of pathogenicity
Select item 807465	NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser)	PLA2G6 (G253S +1 more)	Single nucleotide variant (missense variant +1 more)	Infantile neuroaxonal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 159778	NM_003560.4(PLA2G6):c.755del (p.Asn252fs)	PLA2G6 (N74fs +1 more)	Deletion (frameshift variant +1 more)	PLA2G6-associated neurodegeneration +3 more	GPathogenic/Likely pathogenic
Select item 159777	NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del)	PLA2G6	Deletion (inframe_deletion +1 more)	PLA2G6-associated neurodegeneration +3 more	GConflicting classifications of pathogenicity
Select item 2412652	NM_003560.4(PLA2G6):c.719T>C (p.Leu240Pro)	PLA2G6 (L62P +1 more)	Single nucleotide variant (missense variant +1 more)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 1511286	NM_003560.4(PLA2G6):c.680C>T (p.Ala227Val)	PLA2G6 (A49V +1 more)	Single nucleotide variant (missense variant +1 more)	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1701439	NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu)	PLA2G6 (P223L +1 more)	Single nucleotide variant (missense variant +1 more)	Infantile neuroaxonal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 159768	NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)	PLA2G6 (L129P)	Single nucleotide variant (missense variant +1 more)	PLA2G6-associated neurodegeneration +5 more	GConflicting classifications of pathogenicity
Select item 800535	NM_003560.4(PLA2G6):c.380T>C (p.Val127Ala)	PLA2G6 (V127A)	Single nucleotide variant (missense variant +1 more)	Infantile neuroaxonal dystrophy	GUncertain significance
Select item 984695	NM_003560.4(PLA2G6):c.319del (p.Leu107fs)	PLA2G6 (L107fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 432695	NM_003560.4(PLA2G6):c.298C>T (p.Gln100Ter)	PLA2G6 (Q100*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GLikely pathogenic
Select item 2412653	NM_003560.4(PLA2G6):c.278C>A (p.Pro93His)	PLA2G6 (P93H)	Single nucleotide variant (missense variant +1 more)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 6202	NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr)	PLA2G6 (A80T)	Single nucleotide variant (missense variant +1 more)	PLA2G6-associated neurodegeneration +4 more	GPathogenic/Likely pathogenic
Select item 2412654	NM_003560.4(PLA2G6):c.127C>T (p.Gln43Ter)	PLA2G6 (Q43*)	Single nucleotide variant (nonsense +1 more)	PLA2G6-associated neurodegeneration	GPathogenic
Select item 1034007	NM_003560.4(PLA2G6):c.116G>A (p.Arg39Gln)	PLA2G6 (R39Q)	Single nucleotide variant (missense variant +1 more)	PLA2G6-associated neurodegeneration +3 more	GUncertain significance
Select item 30370	NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter)	PLA2G6 (R37*)	Single nucleotide variant (nonsense +1 more)	PLA2G6-associated neurodegeneration +4 more	GPathogenic
Select item 2412655	NM_003560.4(PLA2G6):c.1A>G (p.Met1Val)	PLA2G6 (M1V)	Single nucleotide variant (missense variant +2 more)	Infantile neuroaxonal dystrophy +1 more	GPathogenic

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Items: 81