"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ATP13A2"[g - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	not provided +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)	Autosomal recessive spastic paraplegia type 78 +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 293762	NM_022089.4(ATP13A2):c.*130C>T	ATP13A2 (P1124L)	Single nucleotide variant (3 prime UTR variant +1 more)	Kufor-Rakeb syndrome +2 more	GConflicting classifications of pathogenicity
Select item 493023	NM_022089.4(ATP13A2):c.*120A>T	ATP13A2 (T1121S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
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 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 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 856355	NM_022089.4(ATP13A2):c.3518C>T (p.Pro1173Leu)	ATP13A2 (P1173L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spastic paraplegia type 78 +2 more	GConflicting classifications of pathogenicity
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 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 588527	NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=)	ATP13A2	Single nucleotide variant (synonymous variant +1 more)	Kufor-Rakeb syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2638389	NM_022089.4(ATP13A2):c.3276G>A (p.Leu1092=)	ATP13A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 593131	NM_022089.4(ATP13A2):c.3258G>A (p.Ala1086=)	ATP13A2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 872232	NM_022089.4(ATP13A2):c.3068C>T (p.Thr1023Ile)	ATP13A2 (T1023I +2 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +2 more	GUncertain significance
Select item 644097	NM_022089.4(ATP13A2):c.2978C>T (p.Pro993Leu)	ATP13A2 (P993L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 210381	NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)	ATP13A2	Single nucleotide variant (synonymous variant)	ATP13A2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 128469	NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe)	ATP13A2 (I946F +2 more)	Single nucleotide variant (missense variant)	ATP13A2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 424890	NM_022089.4(ATP13A2):c.2797G>A (p.Val933Ile)	ATP13A2 (V933I +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 128467	NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +4 more	GBenign/Likely benign
Select item 1298409	NM_022089.4(ATP13A2):c.2722T>A (p.Ser908Thr)	ATP13A2 (S864T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 772797	NM_022089.4(ATP13A2):c.2709C>G (p.Val903=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +2 more	GLikely benign
Select item 2570715	NM_022089.4(ATP13A2):c.2638G>A (p.Ala880Thr)	ATP13A2 (A836T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1631445	NM_022089.4(ATP13A2):c.2478C>T (p.Ser826=)	ATP13A2	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spastic paraplegia type 78 +2 more	GLikely benign
Select item 293779	NM_022089.4(ATP13A2):c.2407G>A (p.Val803Ile)	ATP13A2 (V803I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spastic paraplegia type 78 +3 more	GConflicting classifications of pathogenicity
Select item 1652400	NM_022089.4(ATP13A2):c.2340C>T (p.His780=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +2 more	GLikely benign
Select item 704722	NM_022089.4(ATP13A2):c.2252-8A>T	ATP13A2	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 546590	NM_022089.4(ATP13A2):c.2251+6A>C	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +2 more	GUncertain significance
Select item 585467	NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met)	ATP13A2 (T733M +1 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1176183	NM_022089.4(ATP13A2):c.2116C>T (p.Gln706Ter)	ATP13A2 (Q701* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2578567	NM_022089.4(ATP13A2):c.2097C>T (p.Pro699=)	ATP13A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 293787	NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=)	ATP13A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 872233	NM_022089.4(ATP13A2):c.1847A>C (p.Glu616Ala)	ATP13A2 (E616A +1 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +2 more	GUncertain significance
Select item 706068	NM_022089.4(ATP13A2):c.1629T>A (p.Pro543=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +2 more	GLikely benign
Select item 261541	NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +4 more	GBenign/Likely benign
Select item 2638390	NM_022089.4(ATP13A2):c.1572C>T (p.Asp524=)	ATP13A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1879078	NM_022089.4(ATP13A2):c.1543-7C>T	ATP13A2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 590058	NM_022089.4(ATP13A2):c.1536C>T (p.Phe512=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +3 more	GBenign/Likely benign
Select item 293789	NM_022089.4(ATP13A2):c.1449C>T (p.Tyr483=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +2 more	GConflicting classifications of pathogenicity
Select item 293793	NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)	ATP13A2 (L437V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spastic paraplegia type 78 +4 more	GConflicting classifications of pathogenicity
Select item 444160	NM_022089.4(ATP13A2):c.1305G>C (p.Leu435=)	ATP13A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 806073	NM_022089.4(ATP13A2):c.1205C>T (p.Thr402Met)	ATP13A2 (T397M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 872234	NM_022089.4(ATP13A2):c.1111C>T (p.Arg371Trp)	ATP13A2 (R371W +1 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +2 more	GUncertain significance
Select item 625890	NM_022089.4(ATP13A2):c.1039+6C>T	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +3 more	GConflicting classifications of pathogenicity
Select item 293802	NM_022089.4(ATP13A2):c.951C>T (p.Cys317=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +3 more	GConflicting classifications of pathogenicity
Select item 2921877	NM_022089.4(ATP13A2):c.900A>C (p.Pro300=)	ATP13A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 128476	NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)	ATP13A2 (R294Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spastic paraplegia type 78 +4 more	GBenign/Likely benign
Select item 806074	NM_022089.4(ATP13A2):c.839A>G (p.Lys280Arg)	ATP13A2 (K275R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2099999	NM_022089.4(ATP13A2):c.747G>A (p.Ala249=)	ATP13A2	Single nucleotide variant (synonymous variant)	Autosomal recessive spastic paraplegia type 78 +2 more	GLikely benign
Select item 585085	NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val)	ATP13A2 (A249V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2638391	NM_022089.4(ATP13A2):c.744C>T (p.Ile248=)	ATP13A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1550367	NM_022089.4(ATP13A2):c.585C>T (p.Asp195=)	ATP13A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 872235	NM_022089.4(ATP13A2):c.518A>G (p.Tyr173Cys)	ATP13A2 (Y168C +1 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +2 more	GUncertain significance
Select item 546591	NM_022089.4(ATP13A2):c.477+2T>G	ATP13A2	Single nucleotide variant (intron variant +1 more)	Neurodegeneration with brain iron accumulation +4 more	GPathogenic/Likely pathogenic
Select item 664804	NM_022089.4(ATP13A2):c.431A>T (p.Asp144Val)	ATP13A2 (D144V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2162989	NM_022089.4(ATP13A2):c.271G>A (p.Glu91Lys)	ATP13A2 (E91K)	Single nucleotide variant (missense variant)	Autosomal recessive spastic paraplegia type 78 +2 more	GUncertain significance
Select item 1029841	NM_022089.4(ATP13A2):c.265G>A (p.Val89Ile)	ATP13A2 (V89I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1675347	NM_022089.4(ATP13A2):c.264C>T (p.Leu88=)	ATP13A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1195382	NM_022089.4(ATP13A2):c.255C>T (p.Ala85=)	ATP13A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1711214	NM_022089.4(ATP13A2):c.227G>A (p.Arg76Gln)	ATP13A2 (R76Q)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +2 more	GUncertain significance
Select item 261540	NM_022089.4(ATP13A2):c.132A>G (p.Pro44=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +4 more	GBenign/Likely benign
Select item 210379	NM_022089.4(ATP13A2):c.106-8G>A	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +3 more	GConflicting classifications of pathogenicity
Select item 493025	NM_022089.4(ATP13A2):c.29G>A (p.Gly10Asp)	ATP13A2 (G10D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 67