"Dan Cohn Lab, University Of California Los Angeles"[submitter] AND "N - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 12

	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 446669	NM_001199397.3(NEK1):c.2886-1G>A	NEK1	Single nucleotide variant (splice acceptor variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic/Likely pathogenic
Select item 446673	NM_001199397.3(NEK1):c.2814_2817del (p.Asn938fs)	NEK1 (N894fs +6 more)	Microsatellite (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 446686	NM_001199397.3(NEK1):c.1992del (p.Val665fs)	NEK1 (V593fs +5 more)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 446671	NM_001199397.3(NEK1):c.1868del (p.Ser623fs)	NEK1 (S595fs +6 more)	Deletion (frameshift variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic/Likely pathogenic
Select item 446670	NM_001199397.3(NEK1):c.1769_1770del (p.Arg590fs)	NEK1 (R562fs +6 more)	Deletion (frameshift variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic/Likely pathogenic
Select item 446667	NM_001199397.3(NEK1):c.1618C>T (p.Arg540Ter)	NEK1 (R540* +4 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GPathogenic/Likely pathogenic
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 446690	NM_001199397.3(NEK1):c.1122A>C (p.Glu374Asp)	NEK1 (E374D)	Single nucleotide variant (missense variant +1 more)	Jeune thoracic dystrophy	GConflicting classifications of pathogenicity
Select item 446668	NM_001199397.3(NEK1):c.599_602del (p.Lys200fs)	NEK1 (K200fs)	Deletion (frameshift variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic/Likely pathogenic
Select item 446674	NM_001199397.3(NEK1):c.418G>A (p.Gly140Arg)	NEK1 (G140R)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely pathogenic
Select item 266055	NM_001199397.3(NEK1):c.214+1G>A	NEK1	Single nucleotide variant (splice donor variant)	Connective tissue disorder +2 more	GPathogenic; other