C0024507[trait identifier] AND "Clinical Genetics DNA and cytogenetics - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 283367	NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	NEK1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 348098	NM_001199397.3(NEK1):c.3033G>A (p.Pro1011=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GBenign
Select item 95508	NM_001199397.3(NEK1):c.2765-20G>A	NEK1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 348107	NM_001199397.3(NEK1):c.2255A>G (p.Glu752Gly)	NEK1 (E724G +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GBenign
Select item 95507	NM_001199397.3(NEK1):c.1830A>G (p.Glu610=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1206211	NM_001199397.3(NEK1):c.1750-6T>C	NEK1	Single nucleotide variant (intron variant)	NEK1-related condition +2 more	GLikely benign
Select item 348114	NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val)	NEK1 (A463V +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +2 more	GBenign/Likely benign
Select item 348116	NM_001199397.3(NEK1):c.1146T>C (p.Ile382=)	NEK1	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GBenign
Select item 95506	NM_001199397.3(NEK1):c.1081-8dup	NEK1	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1174975	NM_001199397.3(NEK1):c.1080+4T>C	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 348123	NM_001199397.3(NEK1):c.607-3T>C	NEK1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign