"ATP13A2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 874313	NM_022089.4(ATP13A2):c.*140C>G	ATP13A2	Single nucleotide variant (3 prime UTR variant +1 more)	ATP13A2-related disorder +2 more	GBenign/Likely benign
Select item 493023	NM_022089.4(ATP13A2):c.*120A>T	ATP13A2 (T1121S)	Single nucleotide variant (3 prime UTR variant +1 more)	Kufor-Rakeb syndrome +2 more	GBenign/Likely benign
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 587913	NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser)	ATP13A2 (G1177S +2 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +4 more	GConflicting classifications of pathogenicity
Select item 293765	NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=)	ATP13A2 (R1043C)	Single nucleotide variant (synonymous variant +1 more)	ATP13A2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 626062	NM_022089.4(ATP13A2):c.3405+9C>T	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +4 more	GConflicting classifications of pathogenicity
Select item 568939	NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu)	ATP13A2 (P1105L +1 more)	Single nucleotide variant (missense variant +1 more)	Kufor-Rakeb syndrome +4 more	GConflicting classifications of pathogenicity
Select item 3045029	NM_022089.4(ATP13A2):c.3236-7C>T	ATP13A2	Single nucleotide variant (intron variant)	ATP13A2-related disorder	GLikely benign
Select item 210381	NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)	ATP13A2	Single nucleotide variant (synonymous variant)	not specified +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)	Kufor-Rakeb syndrome +4 more	GConflicting classifications of pathogenicity
Select item 293776	NM_022089.4(ATP13A2):c.2609+10C>T	ATP13A2	Single nucleotide variant (intron variant)	Kufor-Rakeb syndrome +2 more	GConflicting classifications of pathogenicity
Select item 293784	NM_022089.4(ATP13A2):c.2263C>G (p.Gln755Glu)	ATP13A2 (Q755E +1 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +4 more	GConflicting classifications of pathogenicity
Select item 705946	NM_022089.4(ATP13A2):c.2160G>T (p.Gly720=)	ATP13A2	Single nucleotide variant (synonymous variant)	ATP13A2-related disorder +2 more	GLikely benign
Select item 590119	NM_022089.4(ATP13A2):c.2151C>T (p.Ser717=)	ATP13A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 293787	NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +4 more	GConflicting classifications of pathogenicity
Select item 3030568	NM_022089.4(ATP13A2):c.1750-4C>T	ATP13A2	Single nucleotide variant (intron variant)	ATP13A2-related disorder	GLikely benign
Select item 3032966	NM_022089.4(ATP13A2):c.1353+5G>A	ATP13A2	Single nucleotide variant (intron variant)	ATP13A2-related disorder	GLikely benign
Select item 210380	NM_022089.4(ATP13A2):c.1352G>A (p.Arg451Gln)	ATP13A2 (R451Q +1 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +3 more	GUncertain significance
Select item 293793	NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)	ATP13A2 (L437V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 293797	NM_022089.4(ATP13A2):c.1195+9C>T	ATP13A2	Single nucleotide variant (intron variant)	ATP13A2-related disorder +3 more	GBenign/Likely benign
Select item 387927	NM_022089.4(ATP13A2):c.1157A>G (p.Tyr386Cys)	ATP13A2 (Y386C +1 more)	Single nucleotide variant (missense variant)	not provided +1 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 2629777	NM_022089.4(ATP13A2):c.1033_1034del (p.Leu345fs)	ATP13A2 (L340fs +1 more)	Microsatellite (frameshift variant)	Kufor-Rakeb syndrome +2 more	GPathogenic
Select item 1124202	NM_022089.4(ATP13A2):c.471C>T (p.Val157=)	ATP13A2	Single nucleotide variant (synonymous variant +1 more)	ATP13A2-related disorder +2 more	GLikely benign
Select item 585469	NM_022089.4(ATP13A2):c.252C>T (p.His84=)	ATP13A2	Single nucleotide variant (synonymous variant)	ATP13A2-related disorder +3 more	GLikely benign
Select item 804554	NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro)	ATP13A2, LOC129929540 (A3P)	Single nucleotide variant (missense variant)	ATP13A2-related disorder +4 more	GConflicting classifications of pathogenicity

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Items: 27