"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Kufor-Rakeb syndrome +2 more	GBenign/Likely benign
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 1174788	NM_022089.4(ATP13A2):c.3235+44_3235+55del	ATP13A2	Deletion (intron variant)	not provided	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 705032	NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=)	ATP13A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 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 128468	NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +4 more	GBenign
Select item 261541	NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=)	ATP13A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 293796	NM_022089.4(ATP13A2):c.1203C>T (p.Cys401=)	ATP13A2	Single nucleotide variant (synonymous variant)	Kufor-Rakeb syndrome +3 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 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 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)	Kufor-Rakeb syndrome +3 more	GConflicting classifications of pathogenicity