"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ATP13A2"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 558999	NM_022089.4(ATP13A2):c.3473G>A (p.Arg1158His)	ATP13A2 (R1158H +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spastic paraplegia type 78 +2 more	GLikely benign
Select item 128474	NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr)	ATP13A2 (A1144T +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 559000	NM_022089.4(ATP13A2):c.3236-30C>T	ATP13A2	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +2 more	GBenign
Select item 261542	NM_022089.4(ATP13A2):c.3235+17G>A	ATP13A2	Single nucleotide variant (intron variant)	Kufor-Rakeb syndrome +2 more	GBenign
Select item 559001	NM_022089.4(ATP13A2):c.3235+13G>A	ATP13A2	Single nucleotide variant (intron variant)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 1439777	NM_022089.4(ATP13A2):c.3206C>A (p.Ala1069Glu)	ATP13A2 (A1025E +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 128473	NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +4 more	GBenign
Select item 465262	NM_022089.4(ATP13A2):c.3175C>T (p.Leu1059Phe)	ATP13A2 (L1059F +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 128472	NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=)	ATP13A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 128471	NM_022089.4(ATP13A2):c.3084-3C>T	ATP13A2	Single nucleotide variant (intron variant)	Kufor-Rakeb syndrome +4 more	GBenign
Select item 559002	NM_022089.4(ATP13A2):c.3083+24C>T	ATP13A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 128470	NM_022089.4(ATP13A2):c.2970G>A (p.Val990=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +4 more	GBenign
Select item 210381	NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)	ATP13A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +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 128468	NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +4 more	GBenign
Select item 559003	NM_022089.4(ATP13A2):c.2763-16G>A	ATP13A2	Single nucleotide variant (intron variant)	Kufor-Rakeb syndrome +2 more	GBenign/Likely benign
Select item 559004	NM_022089.4(ATP13A2):c.2762+29G>A	ATP13A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 128466	NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +4 more	GBenign
Select item 293787	NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=)	ATP13A2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 876374	NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile)	ATP13A2 (V619I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 128465	NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +4 more	GBenign
Select item 546326	NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn)	ATP13A2 (D571N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1352645	NM_022089.4(ATP13A2):c.1460G>A (p.Arg487Gln)	ATP13A2 (R487Q +1 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +2 more	GUncertain significance
Select item 559005	NM_022089.4(ATP13A2):c.1354-24C>T	ATP13A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2683702	NM_022089.4(ATP13A2):c.1345C>G (p.Arg449Gly)	ATP13A2 (R444G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 293793	NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)	ATP13A2 (L437V +1 more)	Single nucleotide variant (missense variant)	ATP13A2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1163729	NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp)	ATP13A2 (R410W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spastic paraplegia type 78 +4 more	GConflicting classifications of pathogenicity
Select item 194113	NM_022089.4(ATP13A2):c.1195+10G>A	ATP13A2	Single nucleotide variant (intron variant)	Kufor-Rakeb syndrome +3 more	GBenign/Likely benign
Select item 293797	NM_022089.4(ATP13A2):c.1195+9C>T	ATP13A2	Single nucleotide variant (intron variant)	ATP13A2-related condition +3 more	GBenign/Likely benign
Select item 128463	NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +4 more	GBenign
Select item 128476	NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)	ATP13A2 (R294Q +1 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +4 more	GBenign/Likely benign
Select item 533811	NM_022089.4(ATP13A2):c.844A>T (p.Ser282Cys)	ATP13A2 (S282C +1 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 559006	NM_022089.4(ATP13A2):c.706-13G>T	ATP13A2	Single nucleotide variant (intron variant)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 569020	NM_022089.4(ATP13A2):c.472G>A (p.Gly158Arg)	ATP13A2 (G158R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 845664	NM_022089.4(ATP13A2):c.146G>T (p.Gly49Val)	ATP13A2 (G49V)	Single nucleotide variant (missense variant)	not provided +3 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 1163730	NM_022089.4(ATP13A2):c.59C>T (p.Thr20Met)	ATP13A2 (T20M)	Single nucleotide variant (missense variant)	Autosomal recessive spastic paraplegia type 78 +3 more	GUncertain significance
Select item 1518330	NM_022089.4(ATP13A2):c.25G>A (p.Val9Met)	ATP13A2 (V9M)	Single nucleotide variant (missense variant)	Autosomal recessive spastic paraplegia type 78 +2 more	GUncertain significance

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Items: 39