Related gene-specific medical variations for Gene (Select 10528) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1298312	NM_006392.4(NOP56):c.909G>A (p.Ala303=)	NOP56	Single nucleotide variant (synonymous variant +1 more)	Spinocerebellar ataxia type 36	GLikely pathogenic
Select item 129807	NM_006392.4(NOP56):c.105T>C (p.Ser35=)	LOC130065309, NOP56	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 126458	NM_006392.3(NOP56):c.3+71_3+76GGCCTG(3_14)	LOC109504727, LOC130065308 +1 more	Microsatellite	Spinocerebellar ataxia type 36	GBenign
Select item 126457	NM_006392.4(NOP56):c.3+71GGCCTG[(650_?)]	NOP56, LOC109504727 +1 more	Microsatellite	Spinocerebellar ataxia type 36	GPathogenic
Select item 31106	NM_006392.4(NOP56):c.3+71_3GGCCTG[16_?]	LOC109504727, LOC130065308 +1 more	Microsatellite	Spinocerebellar ataxia type 36	GPathogenic

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