C5574950[trait identifier] AND "Genome Diagnostics Laboratory, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 351519	NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys)	SPINK5 (R268C)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa +2 more	GBenign/Likely benign
Select item 784576	NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys)	SPINK5 (R484K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 351527	NM_006846.4(SPINK5):c.1764T>G (p.Ile588Met)	SPINK5 (I588M)	Single nucleotide variant (missense variant)	Netherton syndrome +2 more	GBenign
Select item 351531	NM_006846.4(SPINK5):c.2241-6C>T	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa +2 more	GBenign/Likely benign
Select item 449103	NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly)	SPINK5 (E748G)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa +2 more	GConflicting classifications of pathogenicity
Select item 351540	NM_006846.4(SPINK5):c.2905A>G (p.Lys969Glu)	SPINK5 (K969E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 351541	NM_006846.4(SPINK5):c.2915A>G (p.His972Arg)	SPINK5 (H972R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign

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