ClinVar for MedGen (Select 82852) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3588042	NM_003560.4(PLA2G6):c.210-1G>A	PLA2G6	Single nucleotide variant (splice acceptor variant)	Autosomal recessive Parkinson disease 14 +2 more	GLikely pathogenic
Select item 3588040	NM_003560.4(PLA2G6):c.794dup (p.Cys267fs)	PLA2G6 (C267fs +1 more)	Duplication (frameshift variant +1 more)	Autosomal recessive Parkinson disease 14 +2 more	GLikely pathogenic
Select item 3588039	NM_003560.4(PLA2G6):c.857del (p.Tyr286fs)	PLA2G6 (Y108fs +2 more)	Deletion (frameshift variant)	Autosomal recessive Parkinson disease 14 +2 more	GLikely pathogenic
Select item 3588038	NM_003560.4(PLA2G6):c.985C>T (p.Arg329Cys)	PLA2G6 (R103C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive Parkinson disease 14 +2 more	GLikely pathogenic
Select item 3588034	NM_003560.4(PLA2G6):c.2058del (p.Lys686fs)	PLA2G6 (K460fs +4 more)	Deletion (frameshift variant)	Autosomal recessive Parkinson disease 14 +2 more	GLikely pathogenic
Select item 3588033	NM_003560.4(PLA2G6):c.2266C>T (p.Gln756Ter)	PLA2G6 (Q530* +4 more)	Single nucleotide variant (nonsense)	Autosomal recessive Parkinson disease 14 +2 more	GLikely pathogenic
Select item 3588032	NM_003560.4(PLA2G6):c.2287del (p.Gln763fs)	PLA2G6 (Q531fs +4 more)	Deletion (frameshift variant)	Autosomal recessive Parkinson disease 14 +2 more	GLikely pathogenic
Select item 3382608	NM_003560.4(PLA2G6):c.1536dup (p.Asp513Ter)	PLA2G6 (D281* +4 more)	Duplication (nonsense)	Infantile neuroaxonal dystrophy +2 more	GPathogenic
Select item 3377314	NM_003560.4(PLA2G6):c.710G>C (p.Arg237Pro)	PLA2G6 (R237P +1 more)	Single nucleotide variant (missense variant +1 more)	Infantile neuroaxonal dystrophy	GUncertain significance
Select item 3362447	NM_003560.4(PLA2G6):c.2218G>A (p.Gly740Arg)	PLA2G6 (G508R +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy	GLikely pathogenic
Select item 3247347	NC_000022.10:g.(?_38525509)_(38526920_?)del	PLA2G6	Deletion	Infantile neuroaxonal dystrophy	GPathogenic
Select item 3247338	NC_000022.10:g.(?_38516746)_(38525589_?)del	PLA2G6	Deletion	Infantile neuroaxonal dystrophy	GPathogenic
Select item 3247326	NC_000022.10:g.(?_38528818)_(38541680_?)del	PLA2G6	Deletion	Infantile neuroaxonal dystrophy	GPathogenic
Select item 3247315	NC_000022.10:g.(?_38535969)_(38541680_?)del	PLA2G6	Deletion	Infantile neuroaxonal dystrophy	GPathogenic
Select item 3247304	NC_000022.10:g.(?_38539092)_(38541680_?)del	PLA2G6	Deletion	Infantile neuroaxonal dystrophy	GPathogenic
Select item 3247293	NC_000022.10:g.(?_38535969)_(38565433_?)del	PLA2G6	Deletion	Infantile neuroaxonal dystrophy	GPathogenic
Select item 3247282	NC_000022.10:g.(?_38516746)_(38522476_?)del	PLA2G6	Deletion	Infantile neuroaxonal dystrophy	GPathogenic
Select item 3247271	NC_000022.10:g.(?_38519082)_(38522476_?)del	PLA2G6	Deletion	Infantile neuroaxonal dystrophy	GPathogenic
Select item 3247260	NC_000022.10:g.(?_38525441)_(38525589_?)del	PLA2G6	Deletion	Infantile neuroaxonal dystrophy	GPathogenic
Select item 3233924	NM_003560.4(PLA2G6):c.1772G>T (p.Arg591Leu)	PLA2G6 (R359L +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 3023595	NM_003560.4(PLA2G6):c.1879+10A>G	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 3022275	NM_003560.4(PLA2G6):c.894+15A>C	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 3021361	NM_003560.4(PLA2G6):c.1592-9T>C	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 3021317	NM_003560.4(PLA2G6):c.1592-13C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 3017787	NM_003560.4(PLA2G6):c.425+19C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 3016482	NM_003560.4(PLA2G6):c.1431C>T (p.His477=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 3015833	NM_003560.4(PLA2G6):c.792G>A (p.Gln264=)	PLA2G6	Single nucleotide variant (synonymous variant +1 more)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 3012629	NM_003560.4(PLA2G6):c.1591+9G>A	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 3010440	NM_003560.4(PLA2G6):c.582C>T (p.Val194=)	PLA2G6 (S31F)	Single nucleotide variant (synonymous variant +1 more)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 3008699	NM_003560.4(PLA2G6):c.1349-6T>C	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 3005941	NM_003560.4(PLA2G6):c.303C>A (p.Val101=)	PLA2G6	Single nucleotide variant (synonymous variant +1 more)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 3005878	NM_003560.4(PLA2G6):c.1464G>A (p.Val488=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 3005144	NM_003560.4(PLA2G6):c.1017C>T (p.His339=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 3003548	NM_003560.4(PLA2G6):c.591C>T (p.Asp197=)	PLA2G6 (T34I)	Single nucleotide variant (synonymous variant +1 more)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 3002332	NM_003560.4(PLA2G6):c.861A>T (p.Gly287=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 3001891	NM_003560.4(PLA2G6):c.801_802dup (p.Ala268fs)	PLA2G6 (A42fs +2 more)	Microsatellite (frameshift variant)	Infantile neuroaxonal dystrophy	GPathogenic
Select item 3000823	NM_003560.4(PLA2G6):c.1677C>T (p.Pro559=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 3000198	NM_003560.4(PLA2G6):c.1968G>A (p.Leu656=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2997791	NM_003560.4(PLA2G6):c.525C>T (p.Cys175=)	PLA2G6 (A12V)	Single nucleotide variant (synonymous variant +2 more)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2997583	NM_003560.4(PLA2G6):c.2154C>T (p.Ala718=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2996801	NM_003560.4(PLA2G6):c.2089A>C (p.Arg697=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2996692	NM_003560.4(PLA2G6):c.1880-6C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2996546	NM_003560.4(PLA2G6):c.1389A>G (p.Pro463=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2995759	NM_003560.4(PLA2G6):c.2203-20C>A	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2995607	NM_003560.4(PLA2G6):c.1329G>A (p.Pro443=)	PLA2G6	Single nucleotide variant (synonymous variant +1 more)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2991720	NM_003560.4(PLA2G6):c.552C>G (p.Tyr184Ter)	PLA2G6 (Y184* +2 more)	Single nucleotide variant (nonsense +1 more)	Infantile neuroaxonal dystrophy	GPathogenic
Select item 2991566	NM_003560.4(PLA2G6):c.1428-15C>G	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2990050	NM_003560.4(PLA2G6):c.1880-11C>A	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2987455	NM_003560.4(PLA2G6):c.2202+17C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2987030	NM_003560.4(PLA2G6):c.1068G>A (p.Leu356=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2985598	NM_003560.4(PLA2G6):c.894+18T>G	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2985547	NM_003560.4(PLA2G6):c.522C>T (p.Tyr174=)	PLA2G6 (T11I)	Single nucleotide variant (synonymous variant +2 more)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2984888	NM_003560.4(PLA2G6):c.1947C>T (p.Arg649=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2982867	NM_003560.4(PLA2G6):c.1591+7G>A	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2982688	NM_003560.4(PLA2G6):c.1629C>T (p.Arg543=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2980944	NM_003560.4(PLA2G6):c.2253G>A (p.Glu751=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2980297	NM_003560.4(PLA2G6):c.609+14G>A	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2979556	NM_003560.4(PLA2G6):c.393C>T (p.Ile131=)	PLA2G6	Single nucleotide variant (synonymous variant +1 more)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2977631	NM_003560.4(PLA2G6):c.516G>A (p.Val172=)	PLA2G6 (C9Y)	Single nucleotide variant (synonymous variant +2 more)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2976980	NM_003560.4(PLA2G6):c.1078-13C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2976328	NM_003560.4(PLA2G6):c.2259C>G (p.Val753=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2968486	NM_003560.4(PLA2G6):c.1592-1G>C	PLA2G6	Single nucleotide variant (splice acceptor variant)	Infantile neuroaxonal dystrophy	GLikely pathogenic
Select item 2963419	NM_003560.4(PLA2G6):c.153C>T (p.Pro51=)	PLA2G6	Single nucleotide variant (synonymous variant +1 more)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2960777	NM_003560.4(PLA2G6):c.426-6C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2960718	NM_003560.4(PLA2G6):c.78G>A (p.Glu26=)	PLA2G6	Single nucleotide variant (synonymous variant +1 more)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2960644	NM_003560.4(PLA2G6):c.1098C>T (p.Ile366=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2960501	NM_003560.4(PLA2G6):c.1572G>A (p.Leu524=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2959931	NM_003560.4(PLA2G6):c.895-18C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2958678	NM_003560.4(PLA2G6):c.1183_1186+8del	PLA2G6	Deletion (splice donor variant)	Infantile neuroaxonal dystrophy	GLikely pathogenic
Select item 2958305	NM_003560.4(PLA2G6):c.1427+17C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2957087	NM_003560.4(PLA2G6):c.120G>A (p.Glu40=)	PLA2G6	Single nucleotide variant (synonymous variant +1 more)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2920311	NM_003560.4(PLA2G6):c.2295G>A (p.Gly765=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2919096	NM_003560.4(PLA2G6):c.1158T>C (p.Pro386=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2919090	NM_003560.4(PLA2G6):c.1926T>A (p.Thr642=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2918579	NM_003560.4(PLA2G6):c.909G>A (p.Leu303=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2918118	NM_003560.4(PLA2G6):c.1062G>C (p.Leu354=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2917919	NM_003560.4(PLA2G6):c.1260G>C (p.Gly420=)	PLA2G6	Single nucleotide variant (synonymous variant +1 more)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2917792	NM_003560.4(PLA2G6):c.1591+10G>C	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2917364	NM_003560.4(PLA2G6):c.2217C>T (p.Asp739=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2917115	NM_003560.4(PLA2G6):c.333C>T (p.Thr111=)	PLA2G6	Single nucleotide variant (synonymous variant +1 more)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2917063	NM_003560.4(PLA2G6):c.2298G>A (p.Thr766=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2917033	NM_003560.4(PLA2G6):c.279C>T (p.Pro93=)	PLA2G6	Single nucleotide variant (synonymous variant +1 more)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2916981	NM_003560.4(PLA2G6):c.81G>A (p.Val27=)	PLA2G6	Single nucleotide variant (synonymous variant +1 more)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2916937	NM_003560.4(PLA2G6):c.723G>C (p.Leu241=)	PLA2G6	Single nucleotide variant (synonymous variant +1 more)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2916396	NM_003560.4(PLA2G6):c.666C>G (p.Thr222=)	PLA2G6	Single nucleotide variant (synonymous variant +1 more)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2916029	NM_003560.4(PLA2G6):c.895-7C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2915466	NM_003560.4(PLA2G6):c.1848C>T (p.Asn616=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2914816	NM_003560.4(PLA2G6):c.1428-7A>G	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2913630	NM_003560.4(PLA2G6):c.1427+11C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2912327	NM_003560.4(PLA2G6):c.1078-14T>A	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2911789	NM_003560.4(PLA2G6):c.2034+10G>A	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2911120	NM_003560.4(PLA2G6):c.1728C>T (p.Asp576=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2910480	NM_003560.4(PLA2G6):c.496dup (p.Glu166fs)	PLA2G6 (R3fs +1 more)	Duplication (frameshift variant +2 more)	Infantile neuroaxonal dystrophy	GPathogenic
Select item 2910352	NM_003560.4(PLA2G6):c.459C>T (p.Cys153=)	PLA2G6	Single nucleotide variant (synonymous variant +1 more)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2909989	NM_003560.4(PLA2G6):c.1077+17G>A	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2904859	NM_003560.4(PLA2G6):c.2276+19C>A	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2901960	NM_003560.4(PLA2G6):c.609+16G>C	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2900617	NM_003560.4(PLA2G6):c.1029G>T (p.Ala343=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2900482	NM_003560.4(PLA2G6):c.1078-18TC[2]	PLA2G6	Microsatellite (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2898635	NM_003560.4(PLA2G6):c.1078-1G>A	PLA2G6	Single nucleotide variant (splice acceptor variant)	Infantile neuroaxonal dystrophy +2 more	GLikely pathogenic

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