"Clinical Genomics Laboratory, Stanford Medicine"[submitter] AND "ALMS - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 337007	NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla)	ALMS1	Microsatellite (inframe_insertion)	Alstrom syndrome +2 more	GConflicting classifications of pathogenicity
Select item 210126	NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)	ALMS1 (Y680C +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +4 more	GConflicting classifications of pathogenicity
Select item 2154842	NM_001378454.1(ALMS1):c.6111G>T (p.Lys2037Asn)	ALMS1 (K2037N +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 403933	NM_001378454.1(ALMS1):c.6299A>T (p.Lys2100Ile)	ALMS1 (K2101I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 459880	NM_001378454.1(ALMS1):c.6707C>T (p.Pro2236Leu)	ALMS1 (P2237L +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 696419	NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome +2 more	GConflicting classifications of pathogenicity

ClinVar