"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 214122	NM_001195248.2(APTX):c.742T>A (p.Leu248Met)	APTX (L248M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 262911	NM_001195248.2(APTX):c.513G>A (p.Leu171=)	APTX	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 518398	NM_001195248.2(APTX):c.484-25_484-4del	APTX	Deletion (intron variant)	not specified +2 more	GBenign
Select item 198285	NM_001195248.2(APTX):c.484-25_484-5del	APTX	Deletion (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +4 more	GBenign/Likely benign
Select item 559304	NM_001195248.2(APTX):c.484-25_484-6del	APTX	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1165062	NM_001195248.2(APTX):c.457A>G (p.Lys153Glu)	APTX (K153E +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 214126	NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)	APTX (W6C)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity

ClinVar