23400[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 1209465	NC_000001.11:g.16985747C>T	ATP13A2	Single nucleotide variant	not provided	GLikely benign
Select item 293758	NM_022089.4(ATP13A2):c.*251A>G	ATP13A2	Single nucleotide variant (3 prime UTR variant)	Kufor-Rakeb syndrome	GLikely benign
Select item 293759	NM_022089.4(ATP13A2):c.*243A>C	ATP13A2	Single nucleotide variant (3 prime UTR variant)	Kufor-Rakeb syndrome	GUncertain significance
Select item 876291	NM_022089.4(ATP13A2):c.*231G>A	ATP13A2 (V1158M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 2573607	NM_022089.4(ATP13A2):c.*207C>T	ATP13A2 (Q1150*)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 876292	NM_022089.4(ATP13A2):c.*182C>T	ATP13A2	Single nucleotide variant (3 prime UTR variant +1 more)	Kufor-Rakeb syndrome	GUncertain significance
Select item 2638388	NM_022089.4(ATP13A2):c.*158T>G	ATP13A2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 293760	NM_022089.4(ATP13A2):c.*158T>C	ATP13A2	Single nucleotide variant (3 prime UTR variant +1 more)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 2672326	NM_022089.4(ATP13A2):c.*156G>A	ATP13A2 (V1133I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 293761	NM_022089.4(ATP13A2):c.*155C>T	ATP13A2	Single nucleotide variant (3 prime UTR variant +1 more)	Kufor-Rakeb syndrome +2 more	GConflicting classifications of pathogenicity
Select item 872231	NM_022089.4(ATP13A2):c.*151dup	ATP13A2 (S1132fs)	Duplication (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3057501	NM_022089.4(ATP13A2):c.*146C>T	ATP13A2	Single nucleotide variant (3 prime UTR variant +1 more)	ATP13A2-related disorder	GLikely benign
Select item 2262273	NM_022089.4(ATP13A2):c.*145C>T	ATP13A2 (P1129L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 874313	NM_022089.4(ATP13A2):c.*140C>G	ATP13A2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2308819	NM_022089.4(ATP13A2):c.*138C>T	ATP13A2 (P1127S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 293762	NM_022089.4(ATP13A2):c.*130C>T	ATP13A2 (P1124L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 293763	NM_022089.4(ATP13A2):c.*124C>T	ATP13A2 (P1122L)	Single nucleotide variant (3 prime UTR variant +1 more)	Kufor-Rakeb syndrome +1 more	GBenign
Select item 493023	NM_022089.4(ATP13A2):c.*120A>T	ATP13A2 (T1121S)	Single nucleotide variant (3 prime UTR variant +1 more)	Kufor-Rakeb syndrome +1 more	GBenign/Likely benign
Select item 1690851	NM_022089.4(ATP13A2):c.*109C>T	ATP13A2 (A1117V)	Single nucleotide variant (3 prime UTR variant +1 more)	See cases	GUncertain significance
Select item 546589	NM_022089.4(ATP13A2):c.*79C>T	ATP13A2 (P1107L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1678210	NM_022089.4(ATP13A2):c.*76C>T	ATP13A2 (P1106L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 874314	NM_022089.4(ATP13A2):c.*58A>G	ATP13A2 (D1100G)	Single nucleotide variant (3 prime UTR variant +1 more)	Kufor-Rakeb syndrome	GUncertain significance
Select item 3027054	NM_022089.4(ATP13A2):c.*49A>G	ATP13A2 (H1097R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3057737	NM_022089.4(ATP13A2):c.*41T>C	ATP13A2	Single nucleotide variant (3 prime UTR variant +1 more)	ATP13A2-related disorder	GLikely benign
Select item 3352803	NM_022089.4(ATP13A2):c.*31A>G	ATP13A2 (N1091S)	Single nucleotide variant (3 prime UTR variant +1 more)	ATP13A2-related disorder	GLikely benign
Select item 441003	NM_022089.4(ATP13A2):c.*24C>T	ATP13A2 (H1089Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1711213	NM_022089.4(ATP13A2):c.*17C>T	ATP13A2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1694495	NM_022089.4(ATP13A2):c.*11C>T	ATP13A2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 874315	NM_022089.4(ATP13A2):c.*9C>A	ATP13A2 (H1084N)	Single nucleotide variant (3 prime UTR variant +1 more)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 2051704	NM_022089.4(ATP13A2):c.3543G>A (p.Ter1181=)	ATP13A2 (V1081M)	Single nucleotide variant (synonymous variant +1 more)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 1705239	NM_022089.4(ATP13A2):c.3543G>T (p.Ter1181Tyr)	ATP13A2 (V1081L)	Single nucleotide variant (stop lost +1 more)	not specified	GUncertain significance
Select item 293764	NM_022089.4(ATP13A2):c.3539G>A (p.Arg1180Lys)	ATP13A2 (R1180K +1 more)	Single nucleotide variant (missense variant +1 more)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 845582	NM_022089.4(ATP13A2):c.3538A>T (p.Arg1180Trp)	ATP13A2 (E1079V +2 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +2 more	GUncertain significance
Select item 3131392	NM_022089.4(ATP13A2):c.3537G>A (p.Leu1179=)	ATP13A2 (E1079K)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1705071	NM_022089.4(ATP13A2):c.3535_3536del (p.Leu1179fs)	ATP13A2 (L1174fs +2 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 642673	NM_022089.4(ATP13A2):c.3535del (p.Pro1178_Leu1179insTer)	ATP13A2 (P1078fs)	Deletion (nonsense +1 more)	Autosomal recessive spastic paraplegia type 78 +1 more	GUncertain significance
Select item 587913	NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser)	ATP13A2 (G1177S +2 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2481158	NM_022089.4(ATP13A2):c.3527C>G (p.Ala1176Gly)	ATP13A2 (A1171G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3328030	NM_022089.4(ATP13A2):c.3519G>A (p.Pro1173=)	ATP13A2 (A1073T)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 856355	NM_022089.4(ATP13A2):c.3518C>T (p.Pro1173Leu)	ATP13A2 (P1173L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1481567	NM_022089.4(ATP13A2):c.3503_3516dup (p.Pro1173fs)	ATP13A2 (A1072fs +2 more)	Duplication (frameshift variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 128475	NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=)	ATP13A2 (A1072T)	Single nucleotide variant (synonymous variant +1 more)	Kufor-Rakeb syndrome +4 more	GBenign
Select item 2059877	NM_022089.4(ATP13A2):c.3502G>A (p.Glu1168Lys)	ATP13A2 (R1067Q +2 more)	Single nucleotide variant (missense variant)	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 1128805	NM_022089.4(ATP13A2):c.3501C>T (p.Ala1167=)	ATP13A2 (R1067*)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1731934	NM_022089.4(ATP13A2):c.3490C>T (p.Arg1164Ter)	ATP13A2 (R1164* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spastic paraplegia type 78 +2 more	GUncertain significance
Select item 788230	NM_022089.4(ATP13A2):c.3490C>A (p.Arg1164=)	ATP13A2 (T1063K)	Single nucleotide variant (synonymous variant +1 more)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 533805	NM_022089.4(ATP13A2):c.3476T>C (p.Phe1159Ser)	ATP13A2 (F1159S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spastic paraplegia type 78 +1 more	GUncertain significance
Select item 558999	NM_022089.4(ATP13A2):c.3473G>A (p.Arg1158His)	ATP13A2 (R1158H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1398352	NM_022089.4(ATP13A2):c.3472C>A (p.Arg1158Ser)	ATP13A2 (A1057E +2 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 444159	NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys)	ATP13A2 (R1158C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1374900	NM_022089.4(ATP13A2):c.3471G>T (p.Lys1157Asn)	ATP13A2 (K1152N +2 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 1586487	NM_022089.4(ATP13A2):c.3462C>T (p.Ala1154=)	ATP13A2 (L1054F)	Single nucleotide variant (synonymous variant +1 more)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 1490725	NM_022089.4(ATP13A2):c.3458G>C (p.Arg1153Pro)	ATP13A2 (R1153P +1 more)	Single nucleotide variant (missense variant +1 more)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 973287	NM_022089.4(ATP13A2):c.3458G>A (p.Arg1153Gln)	ATP13A2 (R1148Q +1 more)	Single nucleotide variant (missense variant +1 more)	Kufor-Rakeb syndrome +2 more	GUncertain significance
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 1731528	NM_022089.4(ATP13A2):c.3449G>A (p.Arg1150Gln)	ATP13A2 (R1150Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spastic paraplegia type 78 +2 more	GUncertain significance
Select item 1912256	NM_022089.4(ATP13A2):c.3448C>T (p.Arg1150Trp)	ATP13A2 (P1049L +2 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 1410594	NM_022089.4(ATP13A2):c.3443G>A (p.Arg1148His)	ATP13A2 (R1148H +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spastic paraplegia type 78 +1 more	GUncertain significance
Select item 1420889	NM_022089.4(ATP13A2):c.3442C>T (p.Arg1148Cys)	ATP13A2 (R1143C +2 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 1387449	NM_022089.4(ATP13A2):c.3440G>A (p.Arg1147His)	ATP13A2 (R1142H +1 more)	Single nucleotide variant (missense variant +1 more)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 2158307	NM_022089.4(ATP13A2):c.3439C>A (p.Arg1147Ser)	ATP13A2 (R1142S +2 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +2 more	GUncertain significance
Select item 970791	NM_022089.4(ATP13A2):c.3439C>T (p.Arg1147Cys)	ATP13A2 (A1046V +2 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +2 more	GConflicting classifications of pathogenicity
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 1383259	NM_022089.4(ATP13A2):c.3434G>A (p.Cys1145Tyr)	ATP13A2 (C1140Y +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spastic paraplegia type 78 +1 more	GUncertain significance
Select item 128474	NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr)	ATP13A2 (A1144T +2 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +4 more	GBenign/Likely benign
Select item 293765	NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=)	ATP13A2 (R1043C)	Single nucleotide variant (synonymous variant +1 more)	Kufor-Rakeb syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1731324	NM_022089.4(ATP13A2):c.3428C>A (p.Pro1143His)	ATP13A2 (P1143H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2132728	NM_022089.4(ATP13A2):c.3426C>A (p.Leu1142=)	ATP13A2 (P1042T)	Single nucleotide variant (synonymous variant +1 more)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 1731308	NM_022089.4(ATP13A2):c.3426C>G (p.Leu1142=)	ATP13A2 (P1042A)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spastic paraplegia type 78 +2 more	GLikely benign
Select item 1912535	NM_022089.4(ATP13A2):c.3423C>T (p.Cys1141=)	ATP13A2 (P1041S)	Single nucleotide variant (synonymous variant +1 more)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 1991340	NM_022089.4(ATP13A2):c.3422G>T (p.Cys1141Phe)	ATP13A2 (C1136F +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spastic paraplegia type 78 +1 more	GUncertain significance
Select item 374886	NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter)	ATP13A2 (Q1135* +2 more)	Single nucleotide variant (nonsense +1 more)	Kufor-Rakeb syndrome +1 more	GLikely pathogenic
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 1634070	NM_022089.4(ATP13A2):c.3411G>C (p.Val1137=)	ATP13A2 (A1037P)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 567500	NM_022089.4(ATP13A2):c.3409G>A (p.Val1137Met)	ATP13A2 (V1137M +2 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +2 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 1492619	NM_022089.4(ATP13A2):c.3408C>A (p.Ser1136Arg)	ATP13A2 (R1036S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GUncertain significance
Select item 2096423	NM_022089.4(ATP13A2):c.3406-8del	ATP13A2	Deletion (intron variant)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 2148100	NM_022089.4(ATP13A2):c.3406-13del	ATP13A2	Deletion (intron variant)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 293766	NM_022089.4(ATP13A2):c.3406-14C>T	ATP13A2	Single nucleotide variant (intron variant)	Kufor-Rakeb syndrome +1 more	GBenign/Likely benign
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 1616474	NM_022089.4(ATP13A2):c.3405+10G>A	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 626062	NM_022089.4(ATP13A2):c.3405+9C>T	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +3 more	GConflicting classifications of pathogenicity
Select item 1605204	NM_022089.4(ATP13A2):c.3405+7C>T	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 2070725	NM_022089.4(ATP13A2):c.3400C>T (p.Leu1134=)	ATP13A2	Single nucleotide variant (synonymous variant +1 more)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 2183026	NM_022089.4(ATP13A2):c.3399G>A (p.Met1133Ile)	ATP13A2 (M1133I +1 more)	Single nucleotide variant (missense variant +1 more)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 784784	NM_022089.4(ATP13A2):c.3384C>T (p.Phe1128=)	ATP13A2	Single nucleotide variant (synonymous variant +1 more)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 293767	NM_022089.4(ATP13A2):c.3378C>T (p.Leu1126=)	ATP13A2	Single nucleotide variant (synonymous variant +1 more)	Kufor-Rakeb syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1594714	NM_022089.4(ATP13A2):c.3360G>C (p.Leu1120=)	ATP13A2	Single nucleotide variant (synonymous variant +1 more)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 1434109	NM_022089.4(ATP13A2):c.3356T>G (p.Leu1119Arg)	ATP13A2 (L1114R +1 more)	Single nucleotide variant (missense variant +1 more)	Kufor-Rakeb syndrome +2 more	GUncertain significance
Select item 493024	NM_022089.4(ATP13A2):c.3347T>G (p.Phe1116Cys)	ATP13A2 (F1116C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1422404	NM_022089.4(ATP13A2):c.3343G>A (p.Gly1115Ser)	ATP13A2 (G1110S +1 more)	Single nucleotide variant (missense variant +1 more)	Kufor-Rakeb syndrome +1 more	GUncertain significance

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