ClinVar for MedGen (Select 1632999) - ClinVar - NCBI

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Items: 14

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 14740821.	NM_001199397.3(NEK1):c.2588-2A>G GRCh37: Chr4:170359412 GRCh38: Chr4:169438261	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly, Amyotrophic lateral sclerosis, susceptibility to, 24, Short-rib thoracic dysplasia 6 with or without polydactyly	Likely pathogenic (Sep 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13328322.	NM_001199397.3(NEK1):c.1957C>T (p.Arg653Ter) GRCh37: Chr4:170428238 GRCh38: Chr4:169507087	NEK1	R556, R581, R608, R609, R625, R653	Amyotrophic lateral sclerosis, susceptibility to, 24, not provided, Short-rib thoracic dysplasia 6 with or without polydactyly	Pathogenic (Mar 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13289723.	NM_001199397.3(NEK1):c.3838T>C (p.Tyr1280His) GRCh37: Chr4:170321385 GRCh38: Chr4:169400234	NEK1	Y1119H, Y1183H, Y1208H, Y1235H, Y1236H, Y1252H, Y1280H	Amyotrophic lateral sclerosis, susceptibility to, 24	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 9929884.	NM_001199397.3(NEK1):c.2539G>T (p.Glu847Ter) GRCh37: Chr4:170384442 GRCh38: Chr4:169463291	NEK1	E745, E750, E775, E802, E803, E819, E847*	Amyotrophic lateral sclerosis, susceptibility to, 24	Likely pathogenic (Feb 5, 2020)	no assertion criteria provided
Select item 8111745.	NM_001199397.3(NEK1):c.2400G>C (p.Glu800Asp) GRCh37: Chr4:170398309 GRCh38: Chr4:169477158	NEK1	E698D, E703D, E728D, E755D, E756D, E772D, E800D	Amyotrophic lateral sclerosis, susceptibility to, 24	Uncertain significance (Nov 9, 2018)	criteria provided, single submitter
Select item 8108996.	NM_001199397.3(NEK1):c.3222+64T>A GRCh37: Chr4:170345640 GRCh38: Chr4:169424489	NEK1		Amyotrophic lateral sclerosis, susceptibility to, 24	Likely benign (Nov 13, 2018)	criteria provided, single submitter
Select item 5789567.	NM_001199397.3(NEK1):c.1925C>G (p.Ala642Gly) GRCh37: Chr4:170428270 GRCh38: Chr4:169507119	NEK1	A614G, A642G, A545G, A598G, A570G, A597G	Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly, Amyotrophic lateral sclerosis, susceptibility to, 24	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4951208.	NM_001199397.3(NEK1):c.1648C>T (p.Arg550Ter) GRCh37: Chr4:170458977 GRCh38: Chr4:169537826	NEK1	R550, R506, R481, R508, R533*	Short-rib thoracic dysplasia 6 with or without polydactyly	Pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 4951189.	NM_001199397.3(NEK1):c.2434A>T (p.Arg812Ter) GRCh37: Chr4:170398275 GRCh38: Chr4:169477124	NEK1	R812, R715, R768, R740, R784, R710, R767*	Amyotrophic lateral sclerosis, susceptibility to, 24	risk factor (Feb 28, 2018)	no assertion criteria provided
Select item 28372810.	NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=) GRCh37: Chr4:170345713 GRCh38: Chr4:169424562	NEK1		Short-rib thoracic dysplasia 6 with or without polydactyly, Amyotrophic lateral sclerosis, susceptibility to, 24, Short-rib thoracic dysplasia 6 with or without polydactyly, not specified, not provided	Benign/Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28269311.	NM_001199397.3(NEK1):c.2361G>A (p.Lys787=) GRCh37: Chr4:170398348 GRCh38: Chr4:169477197	NEK1		not provided, Amyotrophic lateral sclerosis, susceptibility to, 24, Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance (Nov 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 26604712.	NM_001199397.3(NEK1):c.1137T>A (p.Asp379Glu) GRCh37: Chr4:170482986 GRCh38: Chr4:169561835	NEK1	D379E	Amyotrophic lateral sclerosis, susceptibility to, 24, Motor neuron disease, not provided, Short-rib thoracic dysplasia 6 with or without polydactyly	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 20860013.	NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) GRCh37: Chr4:170345819 GRCh38: Chr4:169424668	NEK1	S1036, S1008, S964, S992, S939, S991, S875*	Short-rib thoracic dysplasia 6 with or without polydactyly, Amyotrophic lateral sclerosis, susceptibility to, 24, not provided, Short-rib thoracic dysplasia 6 with or without polydactyly	Pathogenic/Likely pathogenic (Jun 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 19912514.	NM_001199397.3(NEK1):c.782G>A (p.Arg261His) GRCh37: Chr4:170506525 GRCh38: Chr4:169585374	NEK1	R261H	Motor neuron disease, not specified, not provided, Short-rib thoracic dysplasia 6 with or without polydactyly	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations