ClinVar for MedGen (Select 481939) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2692321	NM_033116.6(NEK9):c.1327+2T>C	NEK9	Single nucleotide variant (splice donor variant)	NEK9-related lethal skeletal dysplasia +1 more	GLikely pathogenic
Select item 2692319	NM_033116.6(NEK9):c.1367G>A (p.Gly456Asp)	NEK9 (G338D +1 more)	Single nucleotide variant (missense variant)	NEK9-related lethal skeletal dysplasia +1 more	GLikely pathogenic
Select item 2572518	NM_033116.6(NEK9):c.630G>A (p.Thr210=)	NEK9	Single nucleotide variant (synonymous variant)	Arthrogryposis, Perthes disease, and upward gaze palsy	GUncertain significance
Select item 1325899	NM_033116.6(NEK9):c.*13G>A	NEK9	Single nucleotide variant (3 prime UTR variant)	NEK9-related lethal skeletal dysplasia +1 more	GBenign
Select item 1253709	NM_033116.6(NEK9):c.300T>A (p.Ile100=)	NEK9	Single nucleotide variant (synonymous variant +1 more)	NEK9-related lethal skeletal dysplasia +2 more	GBenign
Select item 1181094	NM_033116.6(NEK9):c.324C>T (p.His108=)	NEK9	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1031552	NM_033116.6(NEK9):c.762+10C>T	NEK9	Single nucleotide variant (intron variant)	Arthrogryposis, Perthes disease, and upward gaze palsy	GUncertain significance
Select item 1031033	NM_033116.6(NEK9):c.1327+1G>T	NEK9	Single nucleotide variant (splice donor variant)	Arthrogryposis, Perthes disease, and upward gaze palsy	GLikely pathogenic
Select item 712149	NM_033116.6(NEK9):c.2232T>C (p.Thr744=)	NEK9	Single nucleotide variant (synonymous variant)	Arthrogryposis, Perthes disease, and upward gaze palsy +1 more	GConflicting classifications of pathogenicity
Select item 242930	NM_033116.6(NEK9):c.2042G>A (p.Arg681His)	NEK9 (R681H +2 more)	Single nucleotide variant (missense variant)	NEK9-related lethal skeletal dysplasia	GUncertain significance