C0024507[trait identifier] AND "Laboratory for Molecular Medicine, Mas - ClinVar

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	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)	Short-rib thoracic dysplasia 6 with or without polydactyly +2 more	GPathogenic/Likely pathogenic
Select item 1898292	NM_001199397.3(NEK1):c.1606G>T (p.Glu536Ter)	NEK1 (E536* +4 more)	Single nucleotide variant (nonsense +1 more)	Short rib-polydactyly syndrome +1 more	GPathogenic/Likely pathogenic