C1859598[trait identifier] AND "Lifecell International Pvt. Ltd"[submi - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2501668	NM_001195248.2(APTX):c.729del (p.Lys243fs)	APTX (K155fs +3 more)	Deletion (frameshift variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GLikely pathogenic
Select item 1323370	NM_001195248.2(APTX):c.596del (p.Arg199fs)	APTX (R111fs +3 more)	Deletion (frameshift variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GPathogenic