"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar

	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 128473	NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +4 more	GBenign
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 128470	NM_022089.4(ATP13A2):c.2970G>A (p.Val990=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +4 more	GBenign
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 128466	NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +4 more	GBenign
Select item 128465	NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +4 more	GBenign

ClinVar