C4748158[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333940	NM_005861.4(STUB1):c.154G>A (p.Ala52Thr)	STUB1 (A52T)	Single nucleotide variant (5 prime UTR variant +1 more)	Spinocerebellar ataxia 48	GUncertain significance
Select item 1333941	NM_005861.4(STUB1):c.807dup (p.Val270fs)	JMJD8, STUB1 (V198fs +1 more)	Duplication (frameshift variant +2 more)	Spinocerebellar ataxia 48	GLikely pathogenic