ClinVar for Gene (Select 79572) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328094	NM_001367549.1(ATP13A3):c.3586C>T (p.Arg1196Trp)	ATP13A3 (R1196W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328084	NM_001367549.1(ATP13A3):c.1951A>G (p.Met651Val)	ATP13A3 (M624V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328073	NM_001367549.1(ATP13A3):c.1006A>G (p.Asn336Asp)	ATP13A3 (N309D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328062	NM_001367549.1(ATP13A3):c.1995A>C (p.Glu665Asp)	ATP13A3 (E638D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328046	NM_001367549.1(ATP13A3):c.886G>C (p.Val296Leu)	ATP13A3, LOC126806919 (V269L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3251051	NM_001367549.1(ATP13A3):c.333A>G (p.Ala111=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3131404	NM_001367549.1(ATP13A3):c.3652A>G (p.Met1218Val)	ATP13A3 (M1191V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131403	NM_001367549.1(ATP13A3):c.3608C>G (p.Pro1203Arg)	ATP13A3 (P1173R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131402	NM_001367549.1(ATP13A3):c.304A>G (p.Met102Val)	ATP13A3 (M102V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3131401	NM_001367549.1(ATP13A3):c.3028G>A (p.Val1010Ile)	ATP13A3 (V1010I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131400	NM_001367549.1(ATP13A3):c.2932G>A (p.Val978Ile)	ATP13A3 (V951I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131399	NM_001367549.1(ATP13A3):c.260G>A (p.Arg87His)	ATP13A3 (R87H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131397	NM_001367549.1(ATP13A3):c.1321G>A (p.Val441Ile)	ATP13A3, LOC126806918 (V414I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131396	NM_001367549.1(ATP13A3):c.1234T>A (p.Leu412Met)	ATP13A3, LOC126806918 (L385M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131395	NM_001367549.1(ATP13A3):c.1126G>A (p.Val376Ile)	ATP13A3 (V376I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058190	NM_001367549.1(ATP13A3):c.1086G>A (p.Gly362=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	ATP13A3-related disorder	GLikely benign
Select item 3057862	NM_001367549.1(ATP13A3):c.1014A>C (p.Ser338=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	ATP13A3-related disorder	GLikely benign
Select item 3054379	NM_001367549.1(ATP13A3):c.1560-5C>T	ATP13A3	Single nucleotide variant (intron variant)	ATP13A3-related disorder	GLikely benign
Select item 3050982	NM_001367549.1(ATP13A3):c.2422-9T>C	ATP13A3	Single nucleotide variant (intron variant)	ATP13A3-related disorder	GLikely benign
Select item 3035023	NM_001367549.1(ATP13A3):c.2120+9G>C	ATP13A3	Single nucleotide variant (intron variant)	ATP13A3-related disorder	GLikely benign
Select item 3033088	NM_001367549.1(ATP13A3):c.1711-6_1711-5dup	ATP13A3	Duplication (intron variant)	ATP13A3-related disorder	GLikely benign
Select item 3017403	NM_001367549.1(ATP13A3):c.432T>C (p.Ser144=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012253	NM_001367549.1(ATP13A3):c.3638C>G (p.Pro1213Arg)	ATP13A3 (P1183R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3007700	NM_001367549.1(ATP13A3):c.1498-19G>T	ATP13A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001830	NM_001367549.1(ATP13A3):c.1309G>A (p.Val437Ile)	ATP13A3, LOC126806918 (V437I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2997153	NM_001367549.1(ATP13A3):c.764A>G (p.Lys255Arg)	ATP13A3 (K228R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 2996154	NM_001367549.1(ATP13A3):c.525T>C (p.His175=)	ATP13A3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2985156	NM_001367549.1(ATP13A3):c.3759C>T (p.Ile1253=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971760	NM_001367549.1(ATP13A3):c.1962G>A (p.Ala654=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970104	NM_001367549.1(ATP13A3):c.1602A>G (p.Val534=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2968998	NM_001367549.1(ATP13A3):c.3168C>T (p.His1056=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2968275	NM_001367549.1(ATP13A3):c.2403A>G (p.Pro801=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2961255	NM_001367549.1(ATP13A3):c.2637G>T (p.Gly879=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2961254	NM_001367549.1(ATP13A3):c.2937G>A (p.Val979=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2955957	NM_001367549.1(ATP13A3):c.1150+18_1150+21del	ATP13A3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2911685	NM_001367549.1(ATP13A3):c.1742C>T (p.Ala581Val)	ATP13A3 (A581V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2890554	NM_001367549.1(ATP13A3):c.507G>A (p.Thr169=)	ATP13A3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2883415	NM_001367549.1(ATP13A3):c.673C>T (p.Leu225=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2871051	NM_001367549.1(ATP13A3):c.2005G>C (p.Val669Leu)	ATP13A3 (V642L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2866209	NM_001367549.1(ATP13A3):c.3113A>C (p.His1038Pro)	ATP13A3 (H1011P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2858952	NM_001367549.1(ATP13A3):c.70T>G (p.Leu24Val)	ATP13A3 (L24V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2858951	NM_001367549.1(ATP13A3):c.1774C>T (p.Arg592Cys)	ATP13A3 (R592C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2846746	NM_001367549.1(ATP13A3):c.2874+20G>A	ATP13A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838668	NM_001367549.1(ATP13A3):c.2127A>G (p.Ala709=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2807077	NM_001367549.1(ATP13A3):c.1711-5dup	ATP13A3	Duplication (intron variant)	not provided	GBenign
Select item 2791619	NM_001367549.1(ATP13A3):c.3634A>C (p.Thr1212Pro)	ATP13A3 (T1182P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2777739	NM_001367549.1(ATP13A3):c.3421C>G (p.Gln1141Glu)	ATP13A3 (Q1114E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2748214	NM_001367549.1(ATP13A3):c.2667+9A>T	ATP13A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2740645	NM_001367549.1(ATP13A3):c.2007C>T (p.Val669=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2716183	NM_001367549.1(ATP13A3):c.1871G>A (p.Arg624His)	ATP13A3 (R597H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2712237	NM_001367549.1(ATP13A3):c.3744A>G (p.Gly1248=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2699394	NM_001367549.1(ATP13A3):c.976A>C (p.Ser326Arg)	ATP13A3 (S299R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2697766	NM_001367549.1(ATP13A3):c.1395T>C (p.Gly465=)	ATP13A3, LOC126806918	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2685949	GRCh37/hg19 3q29(chr3:193843129-194259647)x3	ATP13A3, CPN2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2654363	NM_001367549.1(ATP13A3):c.2430G>A (p.Pro810=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2636708	NM_001367549.1(ATP13A3):c.3632A>G (p.Lys1211Arg)	ATP13A3 (K1181R +2 more)	Single nucleotide variant (missense variant +1 more)	ATP13A3-related disorder	GUncertain significance
Select item 2605518	NM_001367549.1(ATP13A3):c.667G>A (p.Val223Ile)	ATP13A3 (V196I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602285	NM_001367549.1(ATP13A3):c.3052A>G (p.Ile1018Val)	ATP13A3 (I1018V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600248	NM_001367549.1(ATP13A3):c.403C>A (p.Gln135Lys)	ATP13A3 (Q135K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580342	GRCh37/hg19 3q29(chr3:193343827-194599635)x1	TMEM44, ATP13A3 +7 more	Copy number loss	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 2569718	NM_001367549.1(ATP13A3):c.1181G>A (p.Arg394His)	ATP13A3, LOC126806918 (R367H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542491	NM_001367549.1(ATP13A3):c.2944A>T (p.Thr982Ser)	ATP13A3 (T982S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529225	NM_001367549.1(ATP13A3):c.1062T>A (p.His354Gln)	ATP13A3 (H327Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527492	NM_001367549.1(ATP13A3):c.3046A>G (p.Ile1016Val)	ATP13A3 (I989V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476869	NM_001367549.1(ATP13A3):c.3006A>G (p.Ile1002Met)	ATP13A3 (I1002M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475003	NM_001367549.1(ATP13A3):c.592G>A (p.Val198Ile)	ATP13A3 (V171I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463440	NM_001367549.1(ATP13A3):c.455C>T (p.Thr152Ile)	ATP13A3 (T152I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2431704	NM_001367549.1(ATP13A3):c.2009A>G (p.Asp670Gly)	ATP13A3 (D643G +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, primary, autosomal recessive	GUncertain significance
Select item 2397313	NM_001367549.1(ATP13A3):c.2653G>A (p.Ala885Thr)	ATP13A3 (A858T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374858	NM_001367549.1(ATP13A3):c.2080G>A (p.Glu694Lys)	ATP13A3 (E694K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352566	NM_001367549.1(ATP13A3):c.2168A>G (p.Gln723Arg)	ATP13A3 (Q696R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2329655	NM_001367549.1(ATP13A3):c.1979G>T (p.Gly660Val)	ATP13A3 (G660V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328080	NM_001367549.1(ATP13A3):c.1653T>G (p.Ile551Met)	ATP13A3 (I551M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320127	NM_001367549.1(ATP13A3):c.787A>T (p.Met263Leu)	ATP13A3 (M236L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319236	NM_001367549.1(ATP13A3):c.1304A>G (p.Asn435Ser)	ATP13A3, LOC126806918 (N408S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318619	NM_001367549.1(ATP13A3):c.115T>C (p.Ser39Pro)	ATP13A3 (S39P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290974	NM_001367549.1(ATP13A3):c.1018G>C (p.Asp340His)	ATP13A3 (D313H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289720	NM_001367549.1(ATP13A3):c.3427C>T (p.Arg1143Cys)	ATP13A3 (R1116C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271012	NM_001367549.1(ATP13A3):c.715G>T (p.Val239Leu)	ATP13A3 (V212L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244955	NM_001367549.1(ATP13A3):c.1594A>G (p.Met532Val)	ATP13A3 (M532V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206836	NM_001367549.1(ATP13A3):c.2222A>G (p.Asn741Ser)	ATP13A3 (N741S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2163167	NM_001367549.1(ATP13A3):c.921T>C (p.Asp307=)	ATP13A3, LOC126806919	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2148793	NM_001367549.1(ATP13A3):c.807C>T (p.Thr269=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2085773	NM_001367549.1(ATP13A3):c.2997G>A (p.Ser999=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2072768	NM_001367549.1(ATP13A3):c.3472A>G (p.Ile1158Val)	ATP13A3 (I1131V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2070999	NM_001367549.1(ATP13A3):c.261C>T (p.Arg87=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2062633	NM_001367549.1(ATP13A3):c.3041T>G (p.Ile1014Ser)	ATP13A3 (I1014S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2060287	NM_001367549.1(ATP13A3):c.839-20CTTT[4]	ATP13A3, LOC126806919	Microsatellite (intron variant)	not provided	GBenign
Select item 2059630	NM_001367549.1(ATP13A3):c.3483+2T>C	ATP13A3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2058868	NM_001367549.1(ATP13A3):c.1203A>G (p.Pro401=)	ATP13A3, LOC126806918	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2057272	NM_001367549.1(ATP13A3):c.3122C>T (p.Ser1041Leu)	ATP13A3 (S1014L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2055537	NM_001367549.1(ATP13A3):c.727A>G (p.Ile243Val)	ATP13A3 (I216V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2051343	NM_001367549.1(ATP13A3):c.2052T>C (p.Arg684=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2049067	NM_001367549.1(ATP13A3):c.1584G>A (p.Val528=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2042212	NM_001367549.1(ATP13A3):c.2755T>G (p.Ser919Ala)	ATP13A3 (S919A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2023812	NM_001367549.1(ATP13A3):c.1900C>A (p.Arg634Ser)	ATP13A3 (R634S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2021612	NM_001367549.1(ATP13A3):c.500C>G (p.Ser167Cys)	ATP13A3 (S167C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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