Related gene-specific medical variations for Gene (Select 285848) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246149	NC_000006.11:g.(?_36259077)_(36262196_?)del	PNPLA1	Deletion	not provided	GPathogenic
Select item 684646	NM_001374623.1(PNPLA1):c.157T>C (p.Ser53Pro)	PNPLA1 (S53P)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosiform erythroderma	GPathogenic
Select item 684643	NM_001374623.1(PNPLA1):c.940_952del (p.Trp314fs)	PNPLA1 (W314fs +2 more)	Deletion (frameshift variant)	Congenital ichthyosiform erythroderma	Gnot provided
Select item 684642	NM_001374623.1(PNPLA1):c.939G>T (p.Glu313Asp)	PNPLA1 (E227D +2 more)	Single nucleotide variant (missense variant)	Congenital ichthyosiform erythroderma	Gnot provided
Select item 684641	NM_001374623.1(PNPLA1):c.362A>C (p.His121Pro)	PNPLA1 (H121P +1 more)	Single nucleotide variant (missense variant)	Congenital ichthyosiform erythroderma	GPathogenic
Select item 684639	NM_001374623.1(PNPLA1):c.448T>C (p.Cys150Arg)	PNPLA1 (C150R +1 more)	Single nucleotide variant (missense variant)	Congenital ichthyosiform erythroderma	GPathogenic
Select item 684637	NM_001374623.1(PNPLA1):c.92C>A (p.Ala31Asp)	PNPLA1 (A31D)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosiform erythroderma	GPathogenic

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