C3280965[trait identifier] AND "GeneReviews"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 684760	NM_004733.4(SLC33A1):c.1474_1482+9del	SLC33A1	Deletion (splice donor variant)	Huppke-Brendel syndrome	GPathogenic
Select item 684759	NM_004733.4(SLC33A1):c.1267-1G>A	SLC33A1	Single nucleotide variant (splice acceptor variant)	Huppke-Brendel syndrome	GPathogenic
Select item 684758	NM_004733.4(SLC33A1):c.1098C>G (p.Tyr366Ter)	SLC33A1 (H304D +1 more)	Single nucleotide variant (nonsense +1 more)	Huppke-Brendel syndrome	GPathogenic
Select item 30378	NM_004733.4(SLC33A1):c.614dup (p.Leu205fs)	SLC33A1 (L205fs)	Duplication (frameshift variant)	Huppke-Brendel syndrome	GPathogenic
Select item 684757	NM_004733.4(SLC33A1):c.542_543del (p.Val181fs)	SLC33A1 (V181fs)	Microsatellite (frameshift variant)	Huppke-Brendel syndrome	GPathogenic
Select item 30375	NM_004733.4(SLC33A1):c.328G>C (p.Ala110Pro)	SLC33A1 (A110P)	Single nucleotide variant (missense variant)	Huppke-Brendel syndrome	GPathogenic

ClinVar