"Mendelics"[submitter] AND "APTX"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 214120	NM_001195248.2(APTX):c.596G>A (p.Arg199His)	APTX (R199H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 446857	NM_001195248.2(APTX):c.484-3_484-2insTTTTTTTTTTTG	APTX	Microsatellite (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity