"GeneDx"[submitter] AND "NEK9"[gene] - ClinVar

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Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 1270600	NM_033116.6(NEK9):c.2818-53T>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244909	NM_033116.6(NEK9):c.2817+66A>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281771	NM_033116.6(NEK9):c.2443-146G>T	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220713	NM_033116.6(NEK9):c.2263G>A (p.Gly755Ser)	NEK9 (G637S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1270792	NM_033116.6(NEK9):c.2234-50T>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282285	NM_033116.6(NEK9):c.2233+204T>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279273	NM_033116.6(NEK9):c.2002+166C>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1686761	NM_033116.6(NEK9):c.1843C>T (p.Arg615Ter)	NEK9 (R497* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1278898	NM_033116.6(NEK9):c.1840+222T>C	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262128	NM_033116.6(NEK9):c.1732-31T>C	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277083	NM_033116.6(NEK9):c.1731+17G>T	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231789	NM_033116.6(NEK9):c.1576-171del	NEK9	Deletion (intron variant)	not provided	GBenign
Select item 1266925	NM_033116.6(NEK9):c.1575+94A>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267045	NM_033116.6(NEK9):c.1528+140del	NEK9	Deletion (intron variant)	not provided	GBenign
Select item 1279353	NM_033116.6(NEK9):c.1328-120A>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261282	NM_033116.6(NEK9):c.1286G>A (p.Arg429His)	NEK9 (R311H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1182712	NM_033116.6(NEK9):c.990-82_990-80del	NEK9	Microsatellite (intron variant)	not provided	GBenign
Select item 373374	NM_033116.6(NEK9):c.908T>C (p.Leu303Pro)	NEK9 (L303P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1241923	NM_033116.6(NEK9):c.874-46C>T	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 373375	NM_033116.6(NEK9):c.727G>T (p.Glu243Ter)	NEK9 (E243* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 +1 more	GUncertain significance
Select item 1273929	NM_033116.6(NEK9):c.524+199T>C	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257727	NM_033116.6(NEK9):c.454-56A>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179822	NM_033116.6(NEK9):c.454-68A>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181833	NM_033116.6(NEK9):c.397+27C>T	NEK9	Single nucleotide variant (intron variant)	not provided	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 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 1280566	NM_033116.6(NEK9):c.220-145C>T	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768666	NM_033116.6(NEK9):c.128G>C (p.Gly43Ala)	NEK9 (G43A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1228004	NC_000014.9:g.75127136T>C	NEK9	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1236663	NC_000014.9:g.75127199C>T	NEK9	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign

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Items: 32