ClinVar for MedGen (Select 831067) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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
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 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 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 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 2412650	NM_003560.4(PLA2G6):c.1078-3C>A	PLA2G6	Single nucleotide variant (intron variant)	PLA2G6-associated neurodegeneration	GUncertain significance
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 2412648	NM_003560.4(PLA2G6):c.1427+2T>C	PLA2G6	Single nucleotide variant (splice donor variant)	PLA2G6-associated neurodegeneration	GPathogenic
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 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 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 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 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 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 1805240	NM_003560.4(PLA2G6):c.562A>G (p.Thr188Ala)	PLA2G6 (T10A +1 more)	Single nucleotide variant (missense variant +1 more)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 1711552	NM_003560.4(PLA2G6):c.2035-926G>A	PLA2G6	Single nucleotide variant (intron variant)	PLA2G6-associated neurodegeneration +1 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)	PLA2G6-associated neurodegeneration +4 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 998023	NM_003560.4(PLA2G6):c.[2356G>A;668C>A]	PLA2G6 (E554K +6 more)	Single nucleotide variant (missense variant +1 more)	Infantile neuroaxonal dystrophy	GPathogenic
Select item 987077	NM_003560.4(PLA2G6):c.1021G>A (p.Ala341Thr)	PLA2G6 (A115T +2 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +3 more	GConflicting classifications of pathogenicity
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 984695	NM_003560.4(PLA2G6):c.319del (p.Leu107fs)	PLA2G6 (L107fs)	Deletion (frameshift variant +1 more)	Neurodegeneration with brain iron accumulation 2B +2 more	GPathogenic/Likely pathogenic
Select item 929943	NM_003560.4(PLA2G6):c.610-1G>T	PLA2G6	Single nucleotide variant (intron variant +1 more)	PLA2G6-associated neurodegeneration	GLikely pathogenic
Select item 903482	NM_003560.4(PLA2G6):c.448G>A (p.Glu150Lys)	PLA2G6 (E150K)	Single nucleotide variant (missense variant +1 more)	PLA2G6-associated neurodegeneration +2 more	GUncertain significance
Select item 903481	NM_003560.4(PLA2G6):c.776C>A (p.Ala259Asp)	PLA2G6 (A259D +1 more)	Single nucleotide variant (missense variant +1 more)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 903430	NM_003560.4(PLA2G6):c.1977C>T (p.Asn659=)	PLA2G6	Single nucleotide variant (synonymous variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 903429	NM_003560.4(PLA2G6):c.2028C>T (p.Ile676=)	PLA2G6	Single nucleotide variant (synonymous variant)	PLA2G6-associated neurodegeneration +1 more	GConflicting classifications of pathogenicity
Select item 902579	NM_003560.4(PLA2G6):c.2376C>A (p.His792Gln)	PLA2G6 (H560Q +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 902578	NM_003560.4(PLA2G6):c.*35C>T	PLA2G6	Single nucleotide variant (3 prime UTR variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 901541	NM_003560.4(PLA2G6):c.894+6T>G	PLA2G6	Single nucleotide variant (intron variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 901540	NM_003560.4(PLA2G6):c.894+8G>A	PLA2G6	Single nucleotide variant (intron variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 901047	NM_003560.4(PLA2G6):c.-130C>T	LOC112695092, PLA2G6	Single nucleotide variant (5 prime UTR variant +1 more)	PLA2G6-associated neurodegeneration	GBenign
Select item 900911	NM_003560.4(PLA2G6):c.*493C>G	PLA2G6	Single nucleotide variant (3 prime UTR variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 900910	NM_003560.4(PLA2G6):c.*515C>T	PLA2G6	Single nucleotide variant (3 prime UTR variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 899869	NM_003560.4(PLA2G6):c.67C>T (p.Arg23Trp)	PLA2G6 (R23W)	Single nucleotide variant (missense variant +1 more)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 899868	NM_003560.4(PLA2G6):c.155A>G (p.Asn52Ser)	PLA2G6 (N52S)	Single nucleotide variant (missense variant +1 more)	PLA2G6-associated neurodegeneration +1 more	GUncertain significance
Select item 899812	NM_003560.4(PLA2G6):c.1348+10G>A	PLA2G6	Single nucleotide variant (intron variant)	PLA2G6-associated neurodegeneration +1 more	GConflicting classifications of pathogenicity
Select item 899811	NM_003560.4(PLA2G6):c.1600A>G (p.Met534Val)	PLA2G6 (M302V +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 899810	NM_003560.4(PLA2G6):c.1614C>T (p.Arg538=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 899757	NM_003560.4(PLA2G6):c.*620G>A	PLA2G6	Single nucleotide variant (3 prime UTR variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 899756	NM_003560.2(PLA2G6):c.*672G>A	PLA2G6	Single nucleotide variant	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 899755	NM_003560.2(PLA2G6):c.*676T>C	PLA2G6	Single nucleotide variant	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 871834	NM_003560.4(PLA2G6):c.1627C>T (p.Arg543Cys)	PLA2G6 (R311C +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 847008	NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met)	PLA2G6 (T141M +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 843964	NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile)	PLA2G6 (T298I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
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 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 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 803690	NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu)	PLA2G6 (P415L +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +2 more	GConflicting classifications of pathogenicity
Select item 706223	NM_003560.4(PLA2G6):c.1983G>A (p.Thr661=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 703226	NM_003560.4(PLA2G6):c.895-5C>T	PLA2G6	Single nucleotide variant (intron variant)	PLA2G6-associated neurodegeneration +2 more	GConflicting classifications of pathogenicity
Select item 702998	NM_003560.4(PLA2G6):c.966C>T (p.His322=)	PLA2G6	Single nucleotide variant (synonymous variant)	PLA2G6-associated neurodegeneration +3 more	GConflicting classifications of pathogenicity
Select item 635025	NM_003560.4(PLA2G6):c.1186+1G>A	PLA2G6	Single nucleotide variant (splice donor variant)	Infantile neuroaxonal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 586316	NM_003560.4(PLA2G6):c.325C>G (p.His109Asp)	PLA2G6 (H109D)	Single nucleotide variant (missense variant +1 more)	Infantile neuroaxonal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 561085	NM_003560.4(PLA2G6):c.1592-2A>C	PLA2G6	Single nucleotide variant (splice acceptor variant)	Infantile neuroaxonal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 522939	NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn)	PLA2G6 (D331N +2 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +3 more	GUncertain significance
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 493345	NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys)	PLA2G6 (R6C)	Single nucleotide variant (missense variant +1 more)	PLA2G6-associated neurodegeneration +5 more	GUncertain significance
Select item 459998	NM_003560.4(PLA2G6):c.396C>T (p.Arg132=)	PLA2G6	Single nucleotide variant (synonymous variant +1 more)	not provided +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 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 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 426191	NM_003560.4(PLA2G6):c.416G>A (p.Arg139His)	PLA2G6 (R139H)	Single nucleotide variant (missense variant +1 more)	PLA2G6-related condition +5 more	GConflicting classifications of pathogenicity
Select item 424725	NM_003560.3(PLA2G6):c.[1351delC];[1942G>A]			Infantile neuroaxonal dystrophy	GLikely 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 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 374459	NM_003560.4(PLA2G6):c.209G>A (p.Arg70Gln)	PLA2G6 (R70Q)	Single nucleotide variant (missense variant +1 more)	not provided +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 341654	NM_003560.4(PLA2G6):c.-129C>T	LOC112695092, PLA2G6	Single nucleotide variant (5 prime UTR variant +1 more)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 341653	NM_003560.4(PLA2G6):c.-31C>T	PLA2G6	Single nucleotide variant (5 prime UTR variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 341652	NM_003560.4(PLA2G6):c.-20C>A	PLA2G6	Single nucleotide variant (5 prime UTR variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 341651	NM_003560.4(PLA2G6):c.-15C>T	PLA2G6	Single nucleotide variant (5 prime UTR variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 341650	NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn)	PLA2G6 (D31N)	Single nucleotide variant (missense variant +1 more)	Infantile neuroaxonal dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 341649	NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu)	PLA2G6 (S34L)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 341648	NM_003560.4(PLA2G6):c.266C>A (p.Ser89Tyr)	PLA2G6 (S89Y)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 341647	NM_003560.4(PLA2G6):c.439G>A (p.Ala147Thr)	PLA2G6 (A147T)	Single nucleotide variant (missense variant +1 more)	Infantile neuroaxonal dystrophy +5 more	GUncertain significance
Select item 341646	NM_003560.4(PLA2G6):c.441G>A (p.Ala147=)	PLA2G6	Single nucleotide variant (synonymous variant +1 more)	PLA2G6-associated neurodegeneration +1 more	GConflicting classifications of pathogenicity
Select item 341645	NM_003560.4(PLA2G6):c.773C>T (p.Ser258Leu)	PLA2G6 (S258L +1 more)	Single nucleotide variant (missense variant +1 more)	PLA2G6-associated neurodegeneration +2 more	GConflicting classifications of pathogenicity
Select item 341644	NM_003560.4(PLA2G6):c.895-11G>A	PLA2G6	Single nucleotide variant (intron variant)	PLA2G6-associated neurodegeneration +1 more	GConflicting classifications of pathogenicity
Select item 341643	NM_003560.4(PLA2G6):c.990C>T (p.Phe330=)	PLA2G6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 341642	NM_003560.4(PLA2G6):c.995G>C (p.Cys332Ser)	PLA2G6 (C332S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 341641	NM_003560.4(PLA2G6):c.1205T>A (p.Ile402Asn)	PLA2G6 (I402N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 341640	NM_003560.4(PLA2G6):c.1267G>A (p.Ala423Thr)	PLA2G6 (A423T +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile neuroaxonal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 341639	NM_003560.4(PLA2G6):c.1414G>A (p.Asp472Asn)	PLA2G6 (D472N +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +2 more	GUncertain significance

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