ClinVar for MedGen (Select 338281) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067916	NM_022089.4(ATP13A2):c.1034T>C (p.Leu345Pro)	ATP13A2 (L340P +1 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome	GUncertain significance
Select item 2954047	NM_022089.4(ATP13A2):c.558-15C>T	ATP13A2	Single nucleotide variant (intron variant)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 2952769	NM_022089.4(ATP13A2):c.557+1G>T	ATP13A2	Single nucleotide variant (splice donor variant)	Kufor-Rakeb syndrome +1 more	GLikely pathogenic
Select item 2952150	NM_022089.4(ATP13A2):c.3236-19_3236-16del	ATP13A2	Microsatellite (intron variant)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 2952001	NM_022089.4(ATP13A2):c.2548G>C (p.Val850Leu)	ATP13A2 (V845L +2 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 2951461	NM_022089.4(ATP13A2):c.3408C>T (p.Ser1136=)	ATP13A2 (R1036C)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2950685	NM_022089.4(ATP13A2):c.1989C>G (p.Leu663=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2950181	NM_022089.4(ATP13A2):c.2006-9C>A	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2950162	NM_022089.4(ATP13A2):c.477+12A>G	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2949464	NM_022089.4(ATP13A2):c.3525C>T (p.Pro1175=)	ATP13A2 (R1075C)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2949115	NM_022089.4(ATP13A2):c.1380G>C (p.Arg460=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2948377	NM_022089.4(ATP13A2):c.1701C>T (p.Thr567=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2947923	NM_022089.4(ATP13A2):c.2429C>T (p.Ala810Val)	ATP13A2 (A805V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spastic paraplegia type 78 +1 more	GUncertain significance
Select item 2947838	NM_022089.4(ATP13A2):c.2379G>A (p.Pro793=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2947150	NM_022089.4(ATP13A2):c.3235+11G>C	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2947047	NM_022089.4(ATP13A2):c.1281G>A (p.Lys427=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2946901	NM_022089.4(ATP13A2):c.706-17T>C	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2946246	NM_022089.4(ATP13A2):c.908-19C>T	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2943945	NM_022089.4(ATP13A2):c.1040-12G>A	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2943829	NM_022089.4(ATP13A2):c.1353_1353+1del	ATP13A2	Deletion (splice donor variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely pathogenic
Select item 2943654	NM_022089.4(ATP13A2):c.3435C>T (p.Cys1145=)	ATP13A2 (P1045S)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2942664	NM_022089.4(ATP13A2):c.558-6C>T	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2942568	NM_022089.4(ATP13A2):c.3126G>C (p.Leu1042=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2941920	NM_022089.4(ATP13A2):c.853C>T (p.Leu285=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2941828	NM_022089.4(ATP13A2):c.2762+18C>T	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2940397	NM_022089.4(ATP13A2):c.1354-11C>T	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2939161	NM_022089.4(ATP13A2):c.3083+18dup	ATP13A2	Duplication (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2936535	NM_022089.4(ATP13A2):c.1196-17C>T	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2936478	NM_022089.4(ATP13A2):c.288+17G>T	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2936420	NM_022089.4(ATP13A2):c.66G>A (p.Gly22=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2936008	NM_022089.4(ATP13A2):c.908-18T>A	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2935503	NM_022089.4(ATP13A2):c.888C>T (p.Cys296=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2935435	NM_022089.4(ATP13A2):c.2610-8C>T	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2935246	NM_022089.4(ATP13A2):c.2006-20C>T	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2935037	NM_022089.4(ATP13A2):c.2251+19G>A	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2934372	NM_022089.4(ATP13A2):c.636-12C>A	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2933892	NM_022089.4(ATP13A2):c.10+13T>C	ATP13A2, LOC129929540	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2933833	NM_022089.4(ATP13A2):c.2006-7dup	ATP13A2	Duplication (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2933828	NM_022089.4(ATP13A2):c.2991C>T (p.Leu997=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2931568	NM_022089.4(ATP13A2):c.2652G>A (p.Gly884=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 2931003	NM_022089.4(ATP13A2):c.217del (p.Val73fs)	ATP13A2 (V73fs)	Deletion (frameshift variant)	Kufor-Rakeb syndrome +1 more	GPathogenic
Select item 2930975	NM_022089.4(ATP13A2):c.3405+19C>T	ATP13A2	Single nucleotide variant (intron variant)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 2930958	NM_022089.4(ATP13A2):c.1491C>T (p.His497=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 2930891	NM_022089.4(ATP13A2):c.347+12_347+13del	ATP13A2	Deletion (intron variant)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 2929352	NM_022089.4(ATP13A2):c.570T>C (p.His190=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2928654	NM_022089.4(ATP13A2):c.289-12T>C	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2928596	NM_022089.4(ATP13A2):c.3013C>T (p.Leu1005=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2928375	NM_022089.4(ATP13A2):c.657C>T (p.Asn219=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2928132	NM_022089.4(ATP13A2):c.1749+8G>T	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2928007	NM_022089.4(ATP13A2):c.1276A>G (p.Met426Val)	ATP13A2 (M421V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GUncertain significance
Select item 2926578	NM_022089.4(ATP13A2):c.1662A>G (p.Ala554=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2926470	NM_022089.4(ATP13A2):c.635+20G>A	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2926184	NM_022089.4(ATP13A2):c.43G>A (p.Gly15Ser)	ATP13A2 (G15S)	Single nucleotide variant (missense variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GUncertain significance
Select item 2926166	NM_022089.4(ATP13A2):c.106-20C>T	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2925989	NM_022089.4(ATP13A2):c.483G>A (p.Arg161=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2925773	NM_022089.4(ATP13A2):c.102C>T (p.Ser34=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2925283	NM_022089.4(ATP13A2):c.1750-11C>A	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2925043	NM_022089.4(ATP13A2):c.2005+10_2005+13dup	ATP13A2	Duplication (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2924717	NM_022089.4(ATP13A2):c.2413-1G>C	ATP13A2	Single nucleotide variant (intron variant +1 more)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely pathogenic
Select item 2924673	NM_022089.4(ATP13A2):c.1887C>T (p.Pro629=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2924293	NM_022089.4(ATP13A2):c.1543-18C>T	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2923968	NM_022089.4(ATP13A2):c.1543-14C>T	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2923669	NM_022089.4(ATP13A2):c.103G>A (p.Val35Met)	ATP13A2 (V35M)	Single nucleotide variant (missense variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GUncertain significance
Select item 2923611	NM_022089.4(ATP13A2):c.1932del (p.Ala646fs)	ATP13A2 (A641fs +1 more)	Deletion (frameshift variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GPathogenic
Select item 2923305	NM_022089.4(ATP13A2):c.2238C>T (p.Ala746=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2923145	NM_022089.4(ATP13A2):c.2609+19G>T	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2923070	NM_022089.4(ATP13A2):c.3414A>G (p.Leu1138=)	ATP13A2 (R1038G)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2922602	NM_022089.4(ATP13A2):c.1125C>T (p.Phe375=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2922008	NM_022089.4(ATP13A2):c.3039C>T (p.Thr1013=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2921877	NM_022089.4(ATP13A2):c.900A>C (p.Pro300=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +2 more	GLikely benign
Select item 2921503	NM_022089.4(ATP13A2):c.3256G>A (p.Ala1086Thr)	ATP13A2 (A1086T +1 more)	Single nucleotide variant (missense variant +1 more)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 2921405	NM_022089.4(ATP13A2):c.3501C>G (p.Ala1167=)	ATP13A2 (R1067G)	Single nucleotide variant (synonymous variant +1 more)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 2629777	NM_022089.4(ATP13A2):c.1033_1034del (p.Leu345fs)	ATP13A2 (L340fs +1 more)	Microsatellite (frameshift variant)	Autosomal recessive spastic paraplegia type 78 +2 more	GPathogenic
Select item 2584802	NM_022089.4(ATP13A2):c.1306+1G>C	ATP13A2	Single nucleotide variant (splice donor variant)	Kufor-Rakeb syndrome	GLikely pathogenic
Select item 2572413	NM_022089.4(ATP13A2):c.2540_2550del (p.Gln847fs)	ATP13A2 (Q803fs +2 more)	Deletion (frameshift variant)	Kufor-Rakeb syndrome	GPathogenic
Select item 2505360	NM_022089.4(ATP13A2):c.514C>T (p.Arg172Cys)	ATP13A2 (R167C +1 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome	GUncertain significance
Select item 2505359	NM_022089.4(ATP13A2):c.1407_1428dup (p.Met477fs)	ATP13A2 (M472fs +1 more)	Duplication (frameshift variant)	Kufor-Rakeb syndrome	GLikely pathogenic
Select item 2442091	NM_022089.4(ATP13A2):c.2896A>G (p.Ile966Val)	ATP13A2 (I922V +2 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome	GUncertain significance
Select item 2426713	NC_000001.10:g.(?_17312716)_(17338233_?)dup	ATP13A2	Duplication	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 2426712	NC_000001.10:g.(?_17316166)_(17338233_?)dup	ATP13A2	Duplication	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 2425788	NM_022089.4(ATP13A2):c.635+10G>C	ATP13A2	Single nucleotide variant (intron variant)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 2420461	NM_022089.4(ATP13A2):c.2005+13G>A	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2419737	NM_022089.4(ATP13A2):c.213G>A (p.Trp71Ter)	ATP13A2 (W71*)	Single nucleotide variant (nonsense)	Autosomal recessive spastic paraplegia type 78 +1 more	GPathogenic
Select item 2418908	NM_022089.4(ATP13A2):c.919G>A (p.Val307Met)	ATP13A2 (V302M +1 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 2418905	NM_022089.4(ATP13A2):c.1819C>G (p.Leu607Val)	ATP13A2 (L602V +1 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 2418497	NM_022089.4(ATP13A2):c.2958C>G (p.Val986=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 2417946	NM_022089.4(ATP13A2):c.835A>G (p.Arg279Gly)	ATP13A2 (R274G +1 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 2417190	NM_022089.4(ATP13A2):c.598T>C (p.Ser200Pro)	ATP13A2 (S195P +1 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 2414995	NM_022089.4(ATP13A2):c.1845+15del	ATP13A2	Deletion (intron variant)	Kufor-Rakeb syndrome +1 more	GBenign
Select item 2202707	NM_022089.4(ATP13A2):c.2675G>A (p.Gly892Asp)	ATP13A2 (G848D +2 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 2202640	NM_022089.4(ATP13A2):c.894C>T (p.Cys298=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 2201127	NM_022089.4(ATP13A2):c.3457C>A (p.Arg1153=)	ATP13A2 (A1052E)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2199760	NM_022089.4(ATP13A2):c.2134G>C (p.Val712Leu)	ATP13A2 (V707L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GUncertain significance
Select item 2196445	NM_022089.4(ATP13A2):c.1750-20C>A	ATP13A2	Single nucleotide variant (intron variant)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 2195932	NM_022089.4(ATP13A2):c.703G>A (p.Glu235Lys)	ATP13A2 (E235K +1 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 2194159	NM_022089.4(ATP13A2):c.256G>A (p.Glu86Lys)	ATP13A2 (E86K)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 2193759	NM_022089.4(ATP13A2):c.841-15G>T	ATP13A2	Single nucleotide variant (intron variant)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 2192037	NM_022089.4(ATP13A2):c.2202A>G (p.Pro734=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2188415	NM_022089.4(ATP13A2):c.966G>A (p.Gln322=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 2185980	NM_022089.4(ATP13A2):c.218T>C (p.Val73Ala)	ATP13A2 (V73A)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +1 more	GUncertain significance

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