"3billion"[submitter] AND "NEK1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1526104	NM_001199397.3(NEK1):c.3191C>G (p.Ser1064Ter)	NEK1 (S1019* +6 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic
Select item 446674	NM_001199397.3(NEK1):c.418G>A (p.Gly140Arg)	NEK1 (G140R)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely pathogenic