"New York Genome Center"[submitter] AND "SPINK5"[gene] - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1325523	NM_006846.4(SPINK5):c.899A>G (p.Tyr300Cys)	SPINK5 (Y300C)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 1341884	NM_006846.4(SPINK5):c.1280del (p.Ser427fs)	SPINK5 (S427fs)	Deletion (frameshift variant)	Netherton syndrome	GLikely pathogenic
Select item 1213696	NM_006846.4(SPINK5):c.1415T>C (p.Met472Thr)	SPINK5 (M472T)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa +1 more	GUncertain significance

Format

Sort by

Choose Destination

ClinVar