"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4431	NM_001195248.2(APTX):c.837G>A (p.Trp279Ter)	APTX (W279* +3 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 214123	NM_001195248.2(APTX):c.771-20dup	APTX	Duplication (intron variant)	not provided +4 more	GBenign
Select item 218539	NM_001195248.2(APTX):c.484-3del	APTX	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 198285	NM_001195248.2(APTX):c.484-25_484-5del	APTX	Deletion (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 402383	NM_001195248.2(APTX):c.484-13del	APTX	Deletion (intron variant)	not provided +1 more	GLikely benign
Select item 420789	NM_001195248.2(APTX):c.124C>T (p.Arg42Ter)	APTX (R42*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 930027	NM_001195248.2(APTX):c.46C>T (p.Arg16Ter)	APTX (R16*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar