"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1175878	NM_005861.4(STUB1):c.346A>G (p.Asn116Asp)	JMJD8, RHBDL1 +2 more (N116D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 16 +1 more	GUncertain significance
Select item 3062185	NM_005861.4(STUB1):c.669+2T>C	JMJD8, RHBDL1 +2 more	Single nucleotide variant (3 prime UTR variant +2 more)	Spinocerebellar ataxia 48	GUncertain significance