"Molecular Genetics, Royal Melbourne Hospital"[submitter] AND "ALMS1"[ - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1206378	NM_001378454.1(ALMS1):c.36GGA[14] (p.Glu28dup)	ALMS1	Microsatellite (inframe_insertion)	Alstrom syndrome	GBenign
Select item 221075	NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del)	ALMS1	Microsatellite (inframe_deletion)	not provided +3 more	GBenign
Select item 193378	NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del)	ALMS1 (E28del +1 more)	Microsatellite (inframe_deletion)	not specified +3 more	GBenign/Likely benign
Select item 865871	NM_001378454.1(ALMS1):c.11413C>T (p.Arg3805Ter)	ALMS1 (R3805* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic

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