"PreventionGenetics, part of Exact Sciences"[submitter] AND "NEK8"[gen - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 414268	NM_178170.3(NEK8):c.9G>A (p.Lys3=)	NEK8	Single nucleotide variant (synonymous variant)	NEK8-related disorder +1 more	GLikely benign
Select item 2500285	NM_178170.3(NEK8):c.618G>A (p.Ala206=)	NEK8	Single nucleotide variant (synonymous variant)	Renal-hepatic-pancreatic dysplasia 2 +1 more	GConflicting classifications of pathogenicity
Select item 891255	NM_178170.3(NEK8):c.899G>A (p.Arg300Gln)	NEK8 (R300Q)	Single nucleotide variant (missense variant)	NEK8-related disorder +1 more	GUncertain significance
Select item 699985	NM_178170.3(NEK8):c.936G>A (p.Ser312=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9 +2 more	GLikely benign
Select item 262928	NM_178170.3(NEK8):c.1170T>C (p.Gly390=)	NEK8	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 3049929	NM_178170.3(NEK8):c.1222+10C>T	LOC130060569, NEK8	Single nucleotide variant (intron variant)	NEK8-related disorder	GLikely benign
Select item 539144	NM_178170.3(NEK8):c.1237A>C (p.Met413Leu)	NEK8 (M413L)	Single nucleotide variant (missense variant)	Kidney disorder +2 more	GConflicting classifications of pathogenicity
Select item 696885	NM_178170.3(NEK8):c.1263G>A (p.Gly421=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9 +2 more	GLikely benign
Select item 539139	NM_178170.3(NEK8):c.1299+3G>T	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9 +2 more	GLikely benign
Select item 2631301	NM_178170.3(NEK8):c.1568+2T>C	NEK8	Single nucleotide variant (splice donor variant)	NEK8-related disorder	GLikely pathogenic
Select item 262929	NM_178170.3(NEK8):c.1770C>T (p.His590=)	NEK8	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 322485	NM_178170.3(NEK8):c.1897G>A (p.Glu633Lys)	NEK8 (E633K)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +2 more	GConflicting classifications of pathogenicity
Select item 3054942	NM_178170.3(NEK8):c.1902G>A (p.Val634=)	NEK8	Single nucleotide variant (synonymous variant)	NEK8-related disorder	GLikely benign
Select item 696278	NM_178170.3(NEK8):c.2010C>T (p.Ser670=)	NEK8	Single nucleotide variant (synonymous variant)	NEK8-related disorder +3 more	GLikely benign
Select item 322487	NM_178170.3(NEK8):c.2048G>A (p.Arg683Gln)	NEK8 (R683Q)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +2 more	GUncertain significance