"MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555656	NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs)	ALMS1 (T400fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 437922	NM_001378454.1(ALMS1):c.4645dup (p.Arg1549fs)	ALMS1 (R1550fs +1 more)	Duplication (frameshift variant)	Alstrom syndrome	GPathogenic
Select item 550797	NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs)	ALMS1 (E3773fs +1 more)	Microsatellite (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic

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