ClinVar for MedGen (Select 1632999) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242535	NM_001199397.3(NEK1):c.1414C>T (p.Arg472Ter)	NEK1 (R430* +3 more)	Single nucleotide variant (nonsense +1 more)	Amyotrophic lateral sclerosis, susceptibility to, 24	GLikely pathogenic
Select item 3024566	NM_001199397.3(NEK1):c.1804C>T (p.Gln602Ter)	NEK1 (Q505* +6 more)	Single nucleotide variant (nonsense +1 more)	Amyotrophic lateral sclerosis, susceptibility to, 24	GLikely pathogenic
Select item 2583154	NM_001199397.3(NEK1):c.1324C>T (p.Gln442Ter)	NEK1 (Q400* +3 more)	Single nucleotide variant (nonsense +1 more)	Amyotrophic lateral sclerosis, susceptibility to, 24	GLikely pathogenic
Select item 1474082	NM_001199397.3(NEK1):c.2588-2A>G	NEK1	Single nucleotide variant (intron variant +1 more)	Amyotrophic lateral sclerosis, susceptibility to, 24 +1 more	GLikely pathogenic
Select item 1332832	NM_001199397.3(NEK1):c.1957C>T (p.Arg653Ter)	NEK1 (R556* +5 more)	Single nucleotide variant (nonsense +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +2 more	GPathogenic
Select item 1328972	NM_001199397.3(NEK1):c.3838T>C (p.Tyr1280His)	NEK1 (Y1119H +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis, susceptibility to, 24	GUncertain significance
Select item 992988	NM_001199397.3(NEK1):c.2539G>T (p.Glu847Ter)	NEK1 (E745* +6 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely pathogenic
Select item 811174	NM_001199397.3(NEK1):c.2400G>C (p.Glu800Asp)	NEK1 (E698D +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis, susceptibility to, 24	GUncertain significance
Select item 810899	NM_001199397.3(NEK1):c.3222+64T>A	NEK1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 495120	NM_001199397.3(NEK1):c.1648C>T (p.Arg550Ter)	NEK1 (R550* +4 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic
Select item 495118	NM_001199397.3(NEK1):c.2434A>T (p.Arg812Ter)	NEK1 (R812* +6 more)	Single nucleotide variant (nonsense +1 more)	Amyotrophic lateral sclerosis, susceptibility to, 24	Grisk factor
Select item 348106	NM_001199397.3(NEK1):c.2282_2283del (p.Leu760_Ser761insTer)	NEK1	Microsatellite (nonsense +1 more)	Amyotrophic lateral sclerosis, susceptibility to, 24 +1 more	GConflicting classifications of pathogenicity
Select item 283728	NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +3 more	GBenign/Likely benign
Select item 282693	NM_001199397.3(NEK1):c.2361G>A (p.Lys787=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GUncertain significance
Select item 266047	NM_001199397.3(NEK1):c.1137T>A (p.Asp379Glu)	NEK1 (D379E)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 199125	NM_001199397.3(NEK1):c.782G>A (p.Arg261His)	NEK1 (R261H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity