Related gene-specific medical variations for Gene (Select 4750) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246587	NC_000004.11:g.(?_170482818)_(170523781_?)dup	NEK1	Duplication	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 3246586	NC_000004.11:g.(?_170428168)_(170477266_?)dup	NEK1	Duplication	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2743401	NM_001199397.3(NEK1):c.2693T>C (p.Val898Ala)	LOC129993365, NEK1 (V826A +5 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2696324	NM_001199397.3(NEK1):c.2699C>A (p.Thr900Lys)	LOC129993365, NEK1 (T856K +5 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2687850	NM_001199397.3(NEK1):c.1691T>N (p.Met564Xaa)	NEK1 (M520* +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GPathogenic
Select item 2434327	NM_001199397.3(NEK1):c.1208G>A (p.Arg403Lys)	NEK1 (R386K +1 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 1808818	GRCh37/hg19 4q33(chr4:170463445-170535958)x1	NEK1	Copy number loss	not provided	GUncertain significance
Select item 1224358	NM_001199397.3(NEK1):c.868G>C (p.Ala290Pro)	NEK1 (A290P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1224357	NM_001199397.3(NEK1):c.252G>A (p.Glu84=)	NEK1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1128862	NM_001199397.3(NEK1):c.2709C>T (p.Pro903=)	LOC129993365, NEK1	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 994176	NM_001199397.3(NEK1):c.1387G>A (p.Ala463Thr)	NEK1 (A421T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 993891	NM_001199397.3(NEK1):c.3848-10T>G	NEK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 993728	NM_001199397.3(NEK1):c.777C>T (p.Ala259=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 931143	NM_001199397.3(NEK1):c.1496A>T (p.Asp499Val)	NEK1 (D482V +2 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 930942	NM_001199397.3(NEK1):c.893del (p.Asn298fs)	NEK1 (N298fs)	Deletion (frameshift variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely pathogenic
Select item 903279	NM_001199397.3(NEK1):c.-128C>T	LOC129993366, NEK1	Single nucleotide variant (5 prime UTR variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
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)	Amyotrophic lateral sclerosis, susceptibility to, 24	GLikely benign
Select item 653018	NM_001199397.3(NEK1):c.2687C>T (p.Ser896Phe)	LOC129993365, NEK1 (S824F +5 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 618245	NM_001199397.3(NEK1):c.3422T>C (p.Met1141Thr)	NEK1 (M1113T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 591073	NM_001199397.3(NEK1):c.1513_1517del (p.Lys505fs)	NEK1 (K505fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 591056	NM_001199397.3(NEK1):c.1293_1296dup (p.Ala433fs)	NEK1 (A408fs +3 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 548623	NM_001199397.3(NEK1):c.3410T>C (p.Leu1137Pro)	NEK1 (L1137P +6 more)	Single nucleotide variant (missense variant +1 more)	Asphyxiating thoracic dystrophy 1	GUncertain significance

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Items: 23