"Revvity Omics, Revvity"[submitter] AND "SPINK5"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1325122	NM_006846.4(SPINK5):c.209+1G>A	SPINK5	Single nucleotide variant (splice donor variant)	Netherton syndrome	GLikely pathogenic
Select item 374066	NM_006846.4(SPINK5):c.891C>T (p.Cys297=)	SPINK5	Single nucleotide variant (synonymous variant)	Netherton syndrome +4 more	GPathogenic/Likely pathogenic
Select item 2436313	NM_006846.4(SPINK5):c.2042G>A (p.Arg681Lys)	SPINK5 (R681K)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance

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