C0268425[trait identifier] AND "Laboratory of Medical Genetics, Nation - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2732122	NM_001378454.1(ALMS1):c.57_58del (p.Glu20fs)	ALMS1 (E21fs +1 more)	Deletion (frameshift variant)	Alstrom syndrome	GConflicting classifications of pathogenicity
Select item 3239688	NM_001378454.1(ALMS1):c.5739del (p.Thr1914fs)	ALMS1 (T1914fs +1 more)	Deletion (frameshift variant)	Alstrom syndrome	GLikely pathogenic
Select item 3256543	NM_001378454.1(ALMS1):c.5848_5849del (p.Ile1950fs)	ALMS1 (I1950fs +1 more)	Deletion (frameshift variant)	Alstrom syndrome	GPathogenic
Select item 2572620	NM_001378454.1(ALMS1):c.11304_11307del (p.Thr3769fs)	ALMS1 (T3769fs +1 more)	Deletion (frameshift variant)	Alstrom syndrome	GPathogenic
Select item 3239683	NM_001378454.1(ALMS1):c.12456T>G (p.Tyr4152Ter)	ALMS1 (Y4152* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic

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