C3554355[trait identifier] AND "Uitto Lab, Thomas Jefferson University - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 633796	NM_001374623.1(PNPLA1):c.56C>G (p.Ser19Trp)	PNPLA1 (S19W)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 10	GLikely pathogenic
Select item 633797	NM_001374623.1(PNPLA1):c.149C>A (p.Ala50Glu)	PNPLA1 (A50E)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 10	GLikely pathogenic
Select item 633800	NM_001374623.1(PNPLA1):c.205+5G>A	PNPLA1	Single nucleotide variant (intron variant)	Lamellar ichthyosis +1 more	GConflicting classifications of pathogenicity
Select item 633798	NM_001374623.1(PNPLA1):c.614C>T (p.Pro205Leu)	PNPLA1 (P110L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 10 +1 more	GConflicting classifications of pathogenicity
Select item 633818	NM_001374623.1(PNPLA1):c.727TAC[2] (p.Tyr245del)	PNPLA1 (Y150del +2 more)	Microsatellite (inframe_deletion)	Autosomal recessive congenital ichthyosis 10	GPathogenic
Select item 633799	NM_001374623.1(PNPLA1):c.737G>C (p.Arg246Pro)	PNPLA1 (R151P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 10	GLikely pathogenic

ClinVar