"MVZ Medizinische Genetik Mainz"[submitter] AND "NEK9"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2692319	NM_033116.6(NEK9):c.1367G>A (p.Gly456Asp)	NEK9 (G338D +1 more)	Single nucleotide variant (missense variant)	NEK9-related lethal skeletal dysplasia +1 more	GLikely pathogenic
Select item 2692321	NM_033116.6(NEK9):c.1327+2T>C	NEK9	Single nucleotide variant (splice donor variant)	NEK9-related lethal skeletal dysplasia +1 more	GLikely pathogenic