C1844025[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708112	NM_005032.7(PLS3):c.359C>T (p.Ser120Phe)	PLS3 (S120F +3 more)	Single nucleotide variant (missense variant)	Hernia, anterior diaphragmatic +1 more	GUncertain significance
Select item 1195979	NM_005032.7(PLS3):c.617C>T (p.Ala206Val)	PLS3 (A161V +3 more)	Single nucleotide variant (missense variant)	Hernia, anterior diaphragmatic	GLikely pathogenic
Select item 2637923	NM_005032.7(PLS3):c.808G>A (p.Glu270Lys)	PLS3 (E270K +3 more)	Single nucleotide variant (missense variant)	Hernia, anterior diaphragmatic	GLikely pathogenic
Select item 1195980	NM_005032.7(PLS3):c.1054T>C (p.Phe352Leu)	PLS3 (F307L +3 more)	Single nucleotide variant (missense variant)	Hernia, anterior diaphragmatic	GUncertain significance
Select item 3062002	NM_005032.7(PLS3):c.1090A>G (p.Lys364Glu)	PLS3 (K319E +3 more)	Single nucleotide variant (missense variant)	Hernia, anterior diaphragmatic	GUncertain significance
Select item 2637924	NM_005032.7(PLS3):c.1497G>C (p.Trp499Cys)	PLS3 (W499C +3 more)	Single nucleotide variant (missense variant)	Hernia, anterior diaphragmatic	GLikely pathogenic
Select item 2637922	NM_005032.7(PLS3):c.1774A>G (p.Met592Val)	PLS3 (M592V +3 more)	Single nucleotide variant (missense variant)	Hernia, anterior diaphragmatic	GUncertain significance

ClinVar