"Ambry Genetics"[submitter] AND "NEK1"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3191645	NM_001199397.3(NEK1):c.3722A>G (p.His1241Arg)	NEK1 (H1080R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191644	NM_001199397.3(NEK1):c.3697G>T (p.Val1233Phe)	NEK1 (V1205F +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2080664	NM_001199397.3(NEK1):c.3607A>T (p.Ser1203Cys)	NEK1 (S1106C +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +2 more	GUncertain significance
Select item 1360240	NM_001199397.3(NEK1):c.3586A>G (p.Asn1196Asp)	NEK1 (N1124D +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GUncertain significance
Select item 3299202	NM_001199397.3(NEK1):c.3359C>T (p.Ser1120Phe)	NEK1 (S1048F +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300172	NM_001199397.3(NEK1):c.3329T>C (p.Ile1110Thr)	NEK1 (I1013T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256587	NM_001199397.3(NEK1):c.3115G>C (p.Glu1039Gln)	NEK1 (E1011Q +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3299199	NM_001199397.3(NEK1):c.3007T>A (p.Cys1003Ser)	NEK1 (C958S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256586	NM_001199397.3(NEK1):c.2989G>T (p.Asp997Tyr)	NEK1 (D925Y +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1022085	NM_001199397.3(NEK1):c.2896A>G (p.Arg966Gly)	NEK1 (R805G +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2526925	NM_001199397.3(NEK1):c.2888C>T (p.Ser963Leu)	NEK1 (S963L +6 more)	Single nucleotide variant (missense variant +1 more)	NEK1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2294197	NM_001199397.3(NEK1):c.2860G>A (p.Glu954Lys)	NEK1 (E793K +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 593092	NM_001199397.3(NEK1):c.2647T>C (p.Cys883Arg)	NEK1 (C855R +5 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +2 more	GConflicting classifications of pathogenicity
Select item 3191618	NM_001199397.3(NEK1):c.2561T>C (p.Leu854Pro)	NEK1 (L752P +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3299201	NM_001199397.3(NEK1):c.2400G>T (p.Glu800Asp)	NEK1 (E728D +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 195827	NM_001199397.3(NEK1):c.2251C>G (p.Gln751Glu)	NEK1 (Q751E +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +2 more	GConflicting classifications of pathogenicity
Select item 964518	NM_001199397.3(NEK1):c.2225G>A (p.Arg742His)	NEK1 (R645H +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GUncertain significance
Select item 3299204	NM_001199397.3(NEK1):c.2201T>A (p.Ile734Asn)	NEK1 (I662N +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3299203	NM_001199397.3(NEK1):c.2198C>G (p.Ala733Gly)	NEK1 (A661G +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 902344	NM_001199397.3(NEK1):c.2161C>T (p.Arg721Trp)	NEK1 (R677W +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2104195	NM_001199397.3(NEK1):c.2110G>A (p.Val704Ile)	NEK1 (V602I +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 994132	NM_001199397.3(NEK1):c.2045C>T (p.Pro682Leu)	NEK1 (P580L +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2519473	NM_001199397.3(NEK1):c.1928G>A (p.Arg643His)	NEK1 (R546H +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 578956	NM_001199397.3(NEK1):c.1925C>G (p.Ala642Gly)	NEK1 (A614G +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3191606	NM_001199397.3(NEK1):c.1882A>G (p.Met628Val)	NEK1 (M556V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2624287	NM_001199397.3(NEK1):c.1813G>A (p.Ala605Thr)	NEK1 (A560T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2058077	NM_001199397.3(NEK1):c.1520T>C (p.Leu507Ser)	NEK1 (L465S +2 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GUncertain significance
Select item 2076492	NM_001199397.3(NEK1):c.1478G>A (p.Gly493Asp)	NEK1 (G476D +2 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GUncertain significance
Select item 899606	NM_001199397.3(NEK1):c.1451G>A (p.Arg484His)	NEK1 (R467H +2 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 2491058	NM_001199397.3(NEK1):c.1312T>C (p.Ser438Pro)	NEK1 (S396P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191588	NM_001199397.3(NEK1):c.1177C>A (p.Gln393Lys)	NEK1 (Q393K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2301622	NM_001199397.3(NEK1):c.1168A>G (p.Met390Val)	NEK1 (M390V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2328038	NM_001199397.3(NEK1):c.1103T>C (p.Leu368Pro)	NEK1 (L368P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477346	NM_001199397.3(NEK1):c.998A>C (p.Lys333Thr)	NEK1 (K333T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477345	NM_001199397.3(NEK1):c.996G>C (p.Lys332Asn)	NEK1 (K332N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 348119	NM_001199397.3(NEK1):c.896C>T (p.Ser299Leu)	NEK1 (S299L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2620554	NM_001199397.3(NEK1):c.822A>C (p.Glu274Asp)	NEK1 (E274D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191670	NM_001199397.3(NEK1):c.767G>A (p.Gly256Asp)	NEK1 (G256D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191667	NM_001199397.3(NEK1):c.631C>G (p.Leu211Val)	NEK1 (L211V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486094	NM_001199397.3(NEK1):c.503A>G (p.Tyr168Cys)	NEK1 (Y168C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2149370	NM_001199397.3(NEK1):c.488G>C (p.Cys163Ser)	NEK1 (C163S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2591741	NM_001199397.3(NEK1):c.482G>A (p.Arg161Gln)	NEK1 (R161Q)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GUncertain significance
Select item 1468174	NM_001199397.3(NEK1):c.465T>C (p.Ser155=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2249305	NM_001199397.3(NEK1):c.287A>G (p.Lys96Arg)	NEK1 (K96R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299200	NM_001199397.3(NEK1):c.70A>G (p.Thr24Ala)	NEK1 (T24A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 45