"Genetic Services Laboratory, University of Chicago"[submitter] AND "N - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 348089	NM_001199397.3(NEK1):c.3624T>C (p.Asp1208=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1080703	NM_001199397.3(NEK1):c.3054G>C (p.Val1018=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 435971	NM_001199397.3(NEK1):c.2815A>G (p.Lys939Glu)	NEK1 (K911E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 516330	NM_001199397.3(NEK1):c.2588-12_2588-11del	NEK1	Deletion (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly +2 more	GBenign
Select item 266046	NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)	NEK1 (A341T)	Single nucleotide variant (missense variant +1 more)	NEK1-related disorder +9 more	GConflicting classifications of pathogenicity
Select item 506657	NM_001199397.3(NEK1):c.975A>G (p.Gly325=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GBenign/Likely benign
Select item 266044	NM_001199397.3(NEK1):c.695G>A (p.Arg232His)	NEK1 (R232H)	Single nucleotide variant (missense variant +1 more)	Motor neuron disease +2 more	GConflicting classifications of pathogenicity
Select item 435972	NM_001199397.3(NEK1):c.292G>A (p.Val98Ile)	NEK1 (V98I)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance