Related gene-specific medical variations for Gene (Select 84239) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3053520	NM_032279.4(ATP13A4):c.27C>T (p.His9=)	ATP13A4, ATP13A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ATP13A4-related disorder	GLikely benign
Select item 2688638	NM_032279.4(ATP13A4):c.490C>T (p.Gln164Ter)	ATP13A4 (Q164*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2356790	NM_032279.4(ATP13A4):c.28G>A (p.Ala10Thr)	ATP13A4, ATP13A4-AS1 (A10T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2210818	NM_032279.4(ATP13A4):c.12T>A (p.Phe4Leu)	ATP13A4, ATP13A4-AS1 (F4L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 562862	GRCh37/hg19 3q29(chr3:193120725-193212766)x1	ATP13A4	Copy number loss	not provided	GUncertain significance

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