C0007758[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1183976	NM_020247.5(COQ8A):c.850C>T (p.Gln284Ter)	COQ8A (Q284*)	Single nucleotide variant (nonsense)	Cerebellar ataxia	GLikely pathogenic
Select item 689551	NM_001378452.1(ITPR1):c.4127A>T (p.Asp1376Val)	ITPR1 (D1352V +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia	GUncertain significance
Select item 1321152	NM_153816.6(SNX14):c.867+1G>T	SNX14	Single nucleotide variant (splice donor variant)	Cerebellar ataxia +1 more	GLikely pathogenic
Select item 560384	NM_001278064.2(GRM1):c.951-6T>A	GRM1	Single nucleotide variant (intron variant)	Cerebellar ataxia	GUncertain significance
Select item 1184998	NM_002739.5(PRKCG):c.450C>G (p.Cys150Trp)	PRKCG (C150W)	Single nucleotide variant (missense variant)	Cerebellar ataxia	GLikely pathogenic

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