"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "NEK1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2861826	NM_001199397.3(NEK1):c.1823G>A (p.Arg608His)	NEK1 (R536H +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 1419880	NM_001199397.3(NEK1):c.244T>A (p.Tyr82Asn)	NEK1 (Y82N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance