"Revvity Omics, Revvity"[submitter] AND "NEK1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 208600	NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)	NEK1 (S1036* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1316177	NM_001199397.3(NEK1):c.1942A>G (p.Lys648Glu)	NEK1 (K551E +5 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GUncertain significance
Select item 1029246	NM_001199397.3(NEK1):c.1334A>G (p.His445Arg)	NEK1 (H403R +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GConflicting classifications of pathogenicity
Select item 446672	NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter)	NEK1 (W409* +1 more)	Single nucleotide variant (nonsense +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GPathogenic/Likely pathogenic
Select item 2434327	NM_001199397.3(NEK1):c.1208G>A (p.Arg403Lys)	NEK1 (R386K +1 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 618246	NM_001199397.3(NEK1):c.924T>G (p.Ile308Met)	NEK1 (I308M)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +2 more	GConflicting classifications of pathogenicity

ClinVar