ClinVar for MedGen (Select 383142) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024021	NM_001166114.2(PNPLA6):c.1168+10G>A	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 3014736	NM_001166114.2(PNPLA6):c.2930G>C (p.Gly977Ala)	PNPLA6 (G939A +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 3011563	NM_001166114.2(PNPLA6):c.3280+13G>A	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 3007656	NM_001166114.2(PNPLA6):c.2466-20C>G	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 3004707	NM_001166114.2(PNPLA6):c.2787_2800dup (p.Arg934fs)	PNPLA6 (R944fs +3 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 39	GPathogenic
Select item 3004366	NM_001166114.2(PNPLA6):c.1815-6del	PNPLA6	Deletion (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 3003962	NM_001166114.2(PNPLA6):c.414-17C>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2972174	NM_001166114.2(PNPLA6):c.3292C>T (p.Arg1098Trp)	PNPLA6 (R1033W +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GPathogenic
Select item 2968831	NM_001166114.2(PNPLA6):c.1815-19C>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2962954	NM_001166114.2(PNPLA6):c.3100A>G (p.Thr1034Ala)	PNPLA6 (T996A +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GPathogenic
Select item 2919390	NM_001166114.2(PNPLA6):c.2628C>T (p.Leu876=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2919350	NM_001166114.2(PNPLA6):c.4024-5C>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2915580	NM_001166114.2(PNPLA6):c.2635-4G>A	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2912746	NM_001166114.2(PNPLA6):c.3720G>A (p.Gly1240=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2911959	NM_001166114.2(PNPLA6):c.366C>T (p.Ser122=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2906355	NM_001166114.2(PNPLA6):c.2466-5C>A	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2906297	NM_001166114.2(PNPLA6):c.2533C>T (p.Gln845Ter)	PNPLA6 (Q780* +3 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 39	GPathogenic
Select item 2903867	NM_001166114.2(PNPLA6):c.3336G>A (p.Pro1112=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2903129	NM_001166114.2(PNPLA6):c.1372C>T (p.Gln458Ter)	PNPLA6 (Q419* +2 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 39	GPathogenic
Select item 2898535	NM_001166114.2(PNPLA6):c.1530+10C>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2896501	NM_001166114.2(PNPLA6):c.2850C>A (p.Arg950=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2894258	NM_001166114.2(PNPLA6):c.3465G>A (p.Thr1155=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2887137	NM_001166114.2(PNPLA6):c.1129C>A (p.Pro377Thr)	PNPLA6 (P377T +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 2886655	NM_001166114.2(PNPLA6):c.2964G>A (p.Lys988=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2885734	NM_001166114.2(PNPLA6):c.2760G>T (p.Gly920=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2885450	NM_001166114.2(PNPLA6):c.3397+15G>A	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2885293	NM_001166114.2(PNPLA6):c.413+13T>G	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2883788	NM_001166114.2(PNPLA6):c.414-10C>G	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2883626	NM_001166114.2(PNPLA6):c.1695A>T (p.Val565=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2882283	NM_001166114.2(PNPLA6):c.2178C>T (p.Tyr726=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2878077	NM_001166114.2(PNPLA6):c.4024-1G>A	PNPLA6	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 2877581	NM_001166114.2(PNPLA6):c.864G>C (p.Pro288=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2874180	NM_001166114.2(PNPLA6):c.418C>T (p.Leu140=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2868962	NM_001166114.2(PNPLA6):c.1253-18C>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2864975	NM_001166114.2(PNPLA6):c.1168+14C>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2864657	NM_001166114.2(PNPLA6):c.3270C>T (p.Val1090=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2861273	NM_001166114.2(PNPLA6):c.1913G>A (p.Trp638Ter)	PNPLA6 (W647* +3 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 39	GPathogenic
Select item 2861272	NM_001166114.2(PNPLA6):c.1678G>T (p.Asp560Tyr)	PNPLA6 (D569Y +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GLikely pathogenic
Select item 2856946	NM_001166114.2(PNPLA6):c.2936+14_2936+33del	PNPLA6	Deletion (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2848361	NM_001166114.2(PNPLA6):c.3483G>A (p.Gly1161=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2845999	NM_001166114.2(PNPLA6):c.2937-7C>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2841148	NM_001166114.2(PNPLA6):c.2817+13C>G	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2832888	NM_001166114.2(PNPLA6):c.2953G>C (p.Gly985Arg)	PNPLA6 (G995R +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 2832887	NM_001166114.2(PNPLA6):c.2213G>A (p.Ser738Asn)	PNPLA6 (S673N +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 2827773	NM_001166114.2(PNPLA6):c.1632C>T (p.Leu544=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2825218	NM_001166114.2(PNPLA6):c.1720C>T (p.Gln574Ter)	PNPLA6 (Q535* +3 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 39	GPathogenic
Select item 2823033	NM_001166114.2(PNPLA6):c.714+1G>A	PNPLA6	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 39	GLikely pathogenic
Select item 2821243	NM_001166114.2(PNPLA6):c.2058C>T (p.Asp686=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2820861	NM_006702.5(PNPLA6):c.27+14C>A	LOC130063377, PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2818857	NM_001166114.2(PNPLA6):c.1614G>A (p.Val538=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2816283	NM_001166114.2(PNPLA6):c.2817+8G>A	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2815249	NM_001166114.2(PNPLA6):c.2910C>T (p.Ala970=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2814073	NM_001166114.2(PNPLA6):c.690G>C (p.Leu230=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2811257	NM_001166114.2(PNPLA6):c.264G>A (p.Arg88=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2810571	NM_001166114.2(PNPLA6):c.3102T>C (p.Thr1034=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2809047	NM_001166114.2(PNPLA6):c.2071-16G>A	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2808680	NM_001166114.2(PNPLA6):c.3699+7G>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2796370	NM_001166114.2(PNPLA6):c.829C>T (p.Arg277Trp)	PNPLA6 (R277W +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 2785621	NM_001166114.2(PNPLA6):c.3414C>T (p.Ser1138=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2777761	NM_001166114.2(PNPLA6):c.4024-8C>A	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2771418	NM_001166114.2(PNPLA6):c.1168+1G>C	PNPLA6	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 39	GLikely pathogenic
Select item 2768502	NM_006702.5(PNPLA6):c.7G>A (p.Ala3Thr)	LOC130063377, PNPLA6 (A3T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 2765496	NM_001166114.2(PNPLA6):c.233-16C>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2763469	NM_001166114.2(PNPLA6):c.2071-12G>A	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2761982	NM_001166114.2(PNPLA6):c.438G>A (p.Thr146=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2759741	NM_001166114.2(PNPLA6):c.2465+12A>C	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2759234	NM_001166114.2(PNPLA6):c.672C>T (p.Tyr224=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2759232	NM_001166114.2(PNPLA6):c.215G>A (p.Arg72Gln)	PNPLA6 (R72Q +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 2758765	NM_001166114.2(PNPLA6):c.3711C>T (p.Tyr1237=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2756729	NM_001166114.2(PNPLA6):c.1814+13G>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2752482	NM_001166114.2(PNPLA6):c.2184+1G>A	PNPLA6	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 39	GLikely pathogenic
Select item 2747437	NM_001166114.2(PNPLA6):c.3913+1G>A	PNPLA6	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 39	GLikely pathogenic
Select item 2742585	NM_001166114.2(PNPLA6):c.3104C>A (p.Ser1035Ter)	PNPLA6 (S1045* +3 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 39	GPathogenic
Select item 2741829	NM_001166114.2(PNPLA6):c.1362+17T>A	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2740732	NM_001166114.2(PNPLA6):c.2260+15G>A	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2739185	NM_001166114.2(PNPLA6):c.2466-17C>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2739173	NM_001166114.2(PNPLA6):c.1428G>A (p.Glu476=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2737458	NM_001166114.2(PNPLA6):c.2542del (p.Ala848fs)	PNPLA6 (A810fs +3 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 39	GPathogenic
Select item 2736767	NM_001166114.2(PNPLA6):c.1946+2T>G	PNPLA6	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 39	GLikely pathogenic
Select item 2736260	NM_001166114.2(PNPLA6):c.555-14C>G	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2735619	NM_001166114.2(PNPLA6):c.1947-9C>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2732157	NM_001166114.2(PNPLA6):c.1609-13C>G	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2731981	NM_001166114.2(PNPLA6):c.3507G>T (p.Leu1169=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2730767	NM_001166114.2(PNPLA6):c.2193C>A (p.Thr731=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2726487	NM_001166114.2(PNPLA6):c.2185-7C>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2723368	NM_001166114.2(PNPLA6):c.1431G>A (p.Ser477=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2722903	NM_001166114.2(PNPLA6):c.1366C>T (p.Pro456Ser)	PNPLA6 (P465S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 2722593	NM_001166114.2(PNPLA6):c.1452C>T (p.Phe484=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2717232	NM_001166114.2(PNPLA6):c.1252+19G>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2715236	NM_001166114.2(PNPLA6):c.1253-19C>G	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2714396	NM_001166114.2(PNPLA6):c.315+1G>T	PNPLA6	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 39	GLikely pathogenic
Select item 2714037	NM_001166114.2(PNPLA6):c.2635-16C>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2712674	NM_001166114.2(PNPLA6):c.1815-6C>A	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2712513	NM_001166114.2(PNPLA6):c.699C>T (p.Leu233=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2712073	NM_001166114.2(PNPLA6):c.3063C>T (p.Arg1021=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2709725	NM_001166114.2(PNPLA6):c.156G>T (p.Val52=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2709334	NM_001166114.2(PNPLA6):c.339C>T (p.Leu113=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2708945	NM_006702.5(PNPLA6):c.27+18G>A	LOC130063377, PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2706442	NM_001166114.2(PNPLA6):c.3914-12C>G	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2705781	NM_001166114.2(PNPLA6):c.2115G>A (p.Ala705=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign

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