"Genome-Nilou Lab"[submitter] AND "APTX"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1192329	NM_001195248.2(APTX):c.874+84G>A	APTX	Single nucleotide variant (intron variant)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +1 more	GBenign
Select item 214123	NM_001195248.2(APTX):c.771-12dup	APTX	Duplication (intron variant)	not specified +4 more	GBenign
Select item 1192330	NM_001195248.2(APTX):c.-5+116G>T	APTX	Single nucleotide variant (5 prime UTR variant +2 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +1 more	GBenign

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