"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

	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)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 210127	NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs)	ALMS1 (T1385fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1184927	NM_001378454.1(ALMS1):c.5690C>G (p.Ser1897Ter)	ALMS1 (S1897* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 560536	NM_001378454.1(ALMS1):c.7313C>A (p.Ser2438Ter)	ALMS1, ALMS1-IT1 (S2439* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GPathogenic
Select item 813154	NM_001378454.1(ALMS1):c.7786C>T (p.Gln2596Ter)	ALMS1 (Q2597* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome +1 more	GPathogenic
Select item 987101	NM_001378454.1(ALMS1):c.11047G>T (p.Glu3683Ter)	ALMS1 (E3683* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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