"Ambry Genetics"[submitter] AND "NEK9"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2482207	NM_033116.6(NEK9):c.2881G>A (p.Asp961Asn)	NEK9 (D961N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367626	NM_033116.6(NEK9):c.2881G>T (p.Asp961Tyr)	NEK9 (D843Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192567	NM_033116.6(NEK9):c.2854G>A (p.Glu952Lys)	NEK9 (E834K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252694	NM_033116.6(NEK9):c.2826G>A (p.Met942Ile)	NEK9 (M942I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231328	NM_033116.6(NEK9):c.2773A>G (p.Thr925Ala)	NEK9 (T807A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544988	NM_033116.6(NEK9):c.2709G>C (p.Gln903His)	NEK9 (Q903H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192557	NM_033116.6(NEK9):c.2659C>A (p.Pro887Thr)	NEK9 (P887T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613163	NM_033116.6(NEK9):c.2617A>G (p.Asn873Asp)	NEK9 (N885D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216429	NM_033116.6(NEK9):c.2615T>C (p.Leu872Pro)	NEK9 (L884P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515919	NM_033116.6(NEK9):c.2608C>A (p.Pro870Thr)	NEK9 (P882T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207040	NM_033116.6(NEK9):c.2516A>G (p.Glu839Gly)	NEK9 (E721G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621464	NM_033116.6(NEK9):c.2434C>T (p.Leu812Phe)	NEK9 (L824F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618334	NM_033116.6(NEK9):c.2423G>A (p.Cys808Tyr)	NEK9 (C808Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556630	NM_033116.6(NEK9):c.2276G>A (p.Gly759Asp)	NEK9 (G641D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192527	NM_033116.6(NEK9):c.2275G>A (p.Gly759Ser)	NEK9 (G641S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3192524	NM_033116.6(NEK9):c.2272G>A (p.Gly758Ser)	NEK9 (G758S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308656	NM_033116.6(NEK9):c.2239C>T (p.Gln747Ter)	NEK9 (Q629* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3192521	NM_033116.6(NEK9):c.2212A>C (p.Ser738Arg)	NEK9 (S620R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370745	NM_033116.6(NEK9):c.2171T>C (p.Val724Ala)	NEK9 (V724A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208712	NM_033116.6(NEK9):c.2146C>T (p.Arg716Cys)	NEK9 (R716C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493547	NM_033116.6(NEK9):c.2068C>A (p.Pro690Thr)	NEK9 (P572T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456525	NM_033116.6(NEK9):c.2041C>T (p.Arg681Cys)	NEK9 (R563C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475153	NM_033116.6(NEK9):c.1959C>G (p.Ile653Met)	NEK9 (I535M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507642	NM_033116.6(NEK9):c.1850G>A (p.Arg617Gln)	NEK9 (R617Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3192498	NM_033116.6(NEK9):c.1807G>T (p.Ala603Ser)	NEK9 (A485S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558271	NM_033116.6(NEK9):c.1799G>A (p.Arg600His)	NEK9 (R482H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192496	NM_033116.6(NEK9):c.1784C>T (p.Ser595Phe)	NEK9 (S595F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301543	NM_033116.6(NEK9):c.1766C>T (p.Thr589Ile)	NEK9 (T601I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368117	NM_033116.6(NEK9):c.1739A>T (p.His580Leu)	NEK9 (H462L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192484	NM_033116.6(NEK9):c.1622G>C (p.Cys541Ser)	NEK9 (C541S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400430	NM_033116.6(NEK9):c.1528+2T>C	NEK9	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299066	NM_033116.6(NEK9):c.1513G>A (p.Gly505Ser)	NEK9 (G505S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323936	NM_033116.6(NEK9):c.1387G>C (p.Val463Leu)	NEK9 (V345L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469604	NM_033116.6(NEK9):c.1114C>T (p.Arg372Trp)	NEK9 (R372W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192613	NM_033116.6(NEK9):c.990G>A (p.Arg330=)	NEK9	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2237822	NM_033116.6(NEK9):c.986C>T (p.Pro329Leu)	NEK9 (P211L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192600	NM_033116.6(NEK9):c.920T>G (p.Leu307Arg)	NEK9 (L189R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276847	NM_033116.6(NEK9):c.828G>C (p.Gln276His)	NEK9 (Q276H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192592	NM_033116.6(NEK9):c.790G>A (p.Val264Met)	NEK9 (V146M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308454	NM_033116.6(NEK9):c.530T>C (p.Ile177Thr)	NEK9 (I59T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192573	NM_033116.6(NEK9):c.368C>T (p.Thr123Met)	NEK9 (T123M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373368	NM_033116.6(NEK9):c.202C>G (p.Leu68Val)	NEK9 (L68V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463925	NM_033116.6(NEK9):c.134C>T (p.Ala45Val)	NEK9 (A45V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569410	NM_033116.6(NEK9):c.98G>A (p.Ser33Asn)	NEK9 (S33N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534325	NM_033116.6(NEK9):c.85A>G (p.Ser29Gly)	NEK9 (S29G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2534324	NM_033116.6(NEK9):c.82T>G (p.Ser28Ala)	NEK9 (S28A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534323	NM_033116.6(NEK9):c.73T>G (p.Cys25Gly)	NEK9 (C25G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2553998	NM_033116.6(NEK9):c.70G>A (p.Gly24Ser)	NEK9 (G24S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278774	NM_033116.6(NEK9):c.68G>A (p.Gly23Glu)	NEK9 (G23E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534322	NM_033116.6(NEK9):c.40A>C (p.Ile14Leu)	NEK9 (I14L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 50