C4021076[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 159767	NM_003560.4(PLA2G6):c.2396T>A (p.Leu799His)	PLA2G6 (L799H +4 more)	Single nucleotide variant (missense variant)	Iron accumulation in brain	GLikely pathogenic
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 159764	NM_003560.4(PLA2G6):c.2327_2328del (p.Thr776fs)	PLA2G6 (T544fs +4 more)	Microsatellite (frameshift variant)	Iron accumulation in brain +1 more	GPathogenic
Select item 159763	NM_003560.4(PLA2G6):c.2246G>C (p.Trp749Ser)	PLA2G6 (W749S +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 159762	NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp)	PLA2G6 (R745W +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +3 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 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 6198	NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del)	PLA2G6 (V691del +4 more)	Deletion (inframe_deletion)	not provided +3 more	GPathogenic
Select item 159757	NM_003560.4(PLA2G6):c.2071G>A (p.Val691Ile)	PLA2G6 (V691I +4 more)	Single nucleotide variant (missense variant)	Iron accumulation in brain	GUncertain significance
Select item 159754	NM_003560.4(PLA2G6):c.2068G>A (p.Val690Ile)	PLA2G6 (V690I +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +3 more	GUncertain significance
Select item 159753	NM_003560.4(PLA2G6):c.2066T>G (p.Ile689Ser)	PLA2G6 (I689S +4 more)	Single nucleotide variant (missense variant)	Iron accumulation in brain	GUncertain significance
Select item 159752	NM_003560.4(PLA2G6):c.2030G>T (p.Arg677Leu)	PLA2G6 (R677L +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +2 more	GUncertain significance
Select item 159751	NM_003560.4(PLA2G6):c.1978C>T (p.Pro660Ser)	PLA2G6 (P660S +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 159750	NM_003560.4(PLA2G6):c.1973A>C (p.Asn658Thr)	PLA2G6 (N658T +4 more)	Single nucleotide variant (missense variant)	Iron accumulation in brain	GLikely pathogenic
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 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 159747	NM_003560.4(PLA2G6):c.1754C>T (p.Thr585Ile)	PLA2G6 (T585I +4 more)	Single nucleotide variant (missense variant)	Iron accumulation in brain	GPathogenic
Select item 159744	NM_003560.4(PLA2G6):c.1725G>A (p.Thr575=)	PLA2G6	Single nucleotide variant (synonymous variant)	PLA2G6-associated neurodegeneration +3 more	GConflicting classifications of pathogenicity
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 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 159740	NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser)	PLA2G6 (G539S +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +5 more	GConflicting classifications of pathogenicity
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 159736	NM_003560.4(PLA2G6):c.1591+11C>A	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 159737	NM_003560.4(PLA2G6):c.1591+8C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 159735	NM_003560.4(PLA2G6):c.1573G>A (p.Ala525Thr)	PLA2G6 (A525T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 159734	NM_003560.4(PLA2G6):c.1509del (p.Ser504fs)	PLA2G6 (S450fs +4 more)	Deletion (frameshift variant)	Iron accumulation in brain	GPathogenic
Select item 159733	NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln)	PLA2G6 (E501Q +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +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 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 159730	NC_000022.10:g.38522454delG	PLA2G6 (L273fs +4 more)	Deletion (frameshift variant)	PLA2G6-associated neurodegeneration +3 more	GPathogenic
Select item 159729	NM_003560.4(PLA2G6):c.1348+9C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 159728	NM_003560.4(PLA2G6):c.1117G>A (p.Gly373Arg)	PLA2G6 (G373R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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 159785	NM_003560.4(PLA2G6):c.994T>C (p.Cys332Arg)	PLA2G6 (C332R +2 more)	Single nucleotide variant (missense variant)	Iron accumulation in brain	GLikely pathogenic
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 159780	NM_003560.4(PLA2G6):c.821T>G (p.Met274Arg)	PLA2G6 (M274R +2 more)	Single nucleotide variant (missense variant)	Iron accumulation in brain	GPathogenic
Select item 159779	NM_003560.4(PLA2G6):c.786C>T (p.Phe262=)	PLA2G6	Single nucleotide variant (synonymous 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 159775	NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr)	PLA2G6 (H225Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 159774	NM_003560.4(PLA2G6):c.658G>C (p.Gly220Arg)	PLA2G6 (G220R +1 more)	Single nucleotide variant (missense variant +1 more)	Iron accumulation in brain	GUncertain significance
Select item 159773	NM_003560.4(PLA2G6):c.517C>T (p.Gln173Ter)	PLA2G6 (Q173*)	Single nucleotide variant (nonsense +2 more)	Iron accumulation in brain	GPathogenic
Select item 159771	NM_003560.4(PLA2G6):c.495G>C (p.Gly165=)	PLA2G6 (G2A)	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 159770	NM_003560.4(PLA2G6):c.478T>C (p.Cys160Arg)	PLA2G6 (C160R)	Single nucleotide variant (missense variant +1 more)	Iron accumulation in brain	GLikely pathogenic
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 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 159776	NM_003560.4(PLA2G6):c.68G>A (p.Arg23Gln)	PLA2G6 (R23Q)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 159772	NM_003560.4(PLA2G6):c.4C>A (p.Gln2Lys)	PLA2G6 (Q2K)	Single nucleotide variant (missense variant +1 more)	Iron accumulation in brain	GLikely pathogenic

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Items: 53