Related gene-specific medical variations for Gene (Select 23400) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067916	NM_022089.4(ATP13A2):c.1034T>C (p.Leu345Pro)	ATP13A2 (L340P +1 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome	GUncertain significance
Select item 2933892	NM_022089.4(ATP13A2):c.10+13T>C	ATP13A2, LOC129929540	Single nucleotide variant (intron variant)	Kufor-Rakeb syndrome +1 more	GLikely benign
Select item 2442091	NM_022089.4(ATP13A2):c.2896A>G (p.Ile966Val)	ATP13A2 (I922V +2 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome	GUncertain significance
Select item 2439338	NM_022089.4(ATP13A2):c.352G>A (p.Glu118Lys)	ATP13A2 (E118K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2225344	NM_022089.4(ATP13A2):c.7G>A (p.Ala3Thr)	ATP13A2, LOC129929540 (A3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2050353	NM_022089.4(ATP13A2):c.10+14C>T	ATP13A2, LOC129929540	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GLikely benign
Select item 1393891	NM_022089.4(ATP13A2):c.4A>T (p.Ser2Cys)	ATP13A2, LOC129929540 (S2C)	Single nucleotide variant (missense variant)	Autosomal recessive spastic paraplegia type 78 +1 more	GUncertain significance
Select item 1323953	NM_022089.4(ATP13A2):c.1436_1439del (p.Val479fs)	ATP13A2 (V474fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 1197413	NM_022089.4(ATP13A2):c.10+116dup	ATP13A2, LOC129929540	Duplication (intron variant)	not provided	GLikely benign
Select item 874518	NM_022089.4(ATP13A2):c.-171G>C	ATP13A2, LOC129929540	Single nucleotide variant (5 prime UTR variant)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 874468	NM_022089.4(ATP13A2):c.-99G>C	ATP13A2, LOC129929540	Single nucleotide variant (5 prime UTR variant)	Kufor-Rakeb syndrome +1 more	GUncertain significance
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
Select item 583076	NM_022089.4(ATP13A2):c.2T>G (p.Met1Arg)	ATP13A2, LOC129929540 (M1R)	Single nucleotide variant (missense variant +1 more)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 293806	NM_022089.4(ATP13A2):c.-170C>T	ATP13A2, LOC129929540	Single nucleotide variant (5 prime UTR variant)	Kufor-Rakeb syndrome	GLikely benign
Select item 293805	NM_022089.4(ATP13A2):c.-151C>T	ATP13A2, LOC129929540	Single nucleotide variant (5 prime UTR variant)	Kufor-Rakeb syndrome	GUncertain significance
Select item 92011	NM_022089.4(ATP13A2):c.237C>G (p.Pro79=)	ATP13A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance