"Centre for Genomic and Experimental Medicine, University of Edinburgh - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 266054	NM_001199397.3(NEK1):c.3140C>T (p.Ser1047Leu)	NEK1 (S1019L +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 266053	NM_001199397.3(NEK1):c.2392C>G (p.Leu798Val)	NEK1 (L770V +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 266052	NM_001199397.3(NEK1):c.2368G>A (p.Ala790Thr)	NEK1 (A762T +6 more)	Single nucleotide variant (missense variant +1 more)	Motor neuron disease	GLikely benign
Select item 266050	NM_001199397.3(NEK1):c.2306A>G (p.His769Arg)	NEK1 (H741R +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 266051	NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys)	NEK1 (N717K +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 266049	NM_001199397.3(NEK1):c.2137G>A (p.Val713Met)	NEK1 (V685M +6 more)	Single nucleotide variant (missense variant +1 more)	Motor neuron disease +3 more	GConflicting classifications of pathogenicity
Select item 266042	NM_001199397.3(NEK1):c.1948del (p.Gln650fs)	NEK1 (Q606fs +5 more)	Deletion (frameshift variant +2 more)	Motor neuron disease	Gother
Select item 266057	NM_001199397.3(NEK1):c.1911_1912insTATA (p.Ala638fs)	NEK1 (A566fs +6 more)	Insertion (frameshift variant +1 more)	Motor neuron disease	GUncertain significance
Select item 266048	NM_001199397.3(NEK1):c.1789T>A (p.Phe597Ile)	NEK1 (F569I +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis, susceptibility to, 24 +3 more	GConflicting classifications of pathogenicity
Select item 266056	NM_001199397.3(NEK1):c.1750-5T>C	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 266047	NM_001199397.3(NEK1):c.1137T>A (p.Asp379Glu)	NEK1 (D379E)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis, susceptibility to, 24 +3 more	GConflicting classifications of pathogenicity
Select item 266046	NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)	NEK1 (A341T)	Single nucleotide variant (missense variant +1 more)	Motor neuron disease +4 more	GConflicting classifications of pathogenicity
Select item 266045	NM_001199397.3(NEK1):c.827G>T (p.Cys276Phe)	NEK1 (C276F)	Single nucleotide variant (missense variant +1 more)	Motor neuron disease	GUncertain significance
Select item 199125	NM_001199397.3(NEK1):c.782G>A (p.Arg261His)	NEK1 (R261H)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +3 more	GConflicting classifications of pathogenicity
Select item 266044	NM_001199397.3(NEK1):c.695G>A (p.Arg232His)	NEK1 (R232H)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +2 more	GConflicting classifications of pathogenicity
Select item 266058	NM_001199397.3(NEK1):c.481C>T (p.Arg161Ter)	NEK1 (R161*)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GPathogenic; other
Select item 266043	NM_001199397.3(NEK1):c.386T>G (p.Ile129Ser)	NEK1 (I129S)	Single nucleotide variant (missense variant +1 more)	Motor neuron disease	GLikely pathogenic
Select item 266055	NM_001199397.3(NEK1):c.214+1G>A	NEK1	Single nucleotide variant (splice donor variant)	Short-rib thoracic dysplasia 6 with or without polydactyly +2 more	GPathogenic; other