C0020757[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523447	NM_002016.2(FLG):c.10012A>T (p.Ser3338Cys)	FLG, FLG-AS1 (S3338C)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +4 more	GUncertain significance
Select item 523448	NM_002016.2(FLG):c.544A>T (p.Lys182Ter)	FLG, FLG-AS1 (K182*)	Single nucleotide variant (nonsense)	Microcephaly +7 more	GPathogenic
Select item 373954	NM_000094.4(COL7A1):c.1442G>A (p.Arg481His)	COL7A1 (R481H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 374101	NM_001139.3(ALOX12B):c.1859C>A (p.Pro620Gln)	ALOX12B (P620Q)	Single nucleotide variant (missense variant)	Ichthyosis	GPathogenic
Select item 39546	NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys)	ALOX12B (Y521C)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +3 more	GPathogenic
Select item 523566	NM_173483.4(CYP4F22):c.1211T>C (p.Leu404Pro)	CYP4F22 (L404P)	Single nucleotide variant (missense variant)	Ichthyosis +1 more	GUncertain significance
Select item 523567	NM_173483.4(CYP4F22):c.1544G>T (p.Arg515Leu)	CYP4F22 (R515L)	Single nucleotide variant (missense variant)	Ichthyosis +1 more	GUncertain significance

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