ClinVar for Gene (Select 1439) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3078000	NM_000395.3(CSF2RB):c.784T>C (p.Trp262Arg)	CSF2RB (W262R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077999	NM_000395.3(CSF2RB):c.601C>A (p.His201Asn)	CSF2RB (H201N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077998	NM_000395.3(CSF2RB):c.2617C>T (p.Leu873Phe)	CSF2RB (L873F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077997	NM_000395.3(CSF2RB):c.2495C>T (p.Pro832Leu)	CSF2RB (P832L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077995	NM_000395.3(CSF2RB):c.1544G>T (p.Gly515Val)	CSF2RB (G521V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039231	NM_000395.3(CSF2RB):c.2595G>A (p.Val865=)	CSF2RB	Single nucleotide variant (synonymous variant)	CSF2RB-related disorder	GLikely benign
Select item 3023404	NM_000395.3(CSF2RB):c.2003T>C (p.Leu668Pro)	CSF2RB (L668P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023402	NM_000395.3(CSF2RB):c.828A>G (p.Leu276=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021101	NM_000395.3(CSF2RB):c.2515C>A (p.Pro839Thr)	CSF2RB (P839T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018279	NM_000395.3(CSF2RB):c.1454A>G (p.His485Arg)	CSF2RB (H485R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017256	NM_000395.3(CSF2RB):c.2515C>T (p.Pro839Ser)	CSF2RB (P839S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016647	NM_000395.3(CSF2RB):c.1473C>T (p.Ser491=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016106	NM_000395.3(CSF2RB):c.1532A>G (p.Gln511Arg)	CSF2RB (Q511R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012208	NM_000395.3(CSF2RB):c.100C>T (p.Arg34Cys)	CSF2RB (R34C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011055	NM_000395.3(CSF2RB):c.909G>T (p.Arg303Ser)	CSF2RB (R309S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010354	NM_000395.3(CSF2RB):c.1292C>T (p.Ala431Val)	CSF2RB (A431V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009582	NM_000395.3(CSF2RB):c.1012+9G>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009502	NM_000395.3(CSF2RB):c.1710G>T (p.Gln570His)	CSF2RB (Q570H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008270	NM_000395.3(CSF2RB):c.698T>C (p.Val233Ala)	CSF2RB (V233A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005067	NM_000395.3(CSF2RB):c.595C>T (p.Pro199Ser)	CSF2RB (P199S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004599	NM_000395.3(CSF2RB):c.1756A>G (p.Ser586Gly)	CSF2RB (S592G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003532	NM_000395.3(CSF2RB):c.1374G>A (p.Leu458=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002720	NM_000395.3(CSF2RB):c.516G>A (p.Glu172=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002607	NM_000395.3(CSF2RB):c.557C>A (p.Ala186Asp)	CSF2RB (A186D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001589	NM_000395.3(CSF2RB):c.588C>G (p.Thr196=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001204	NM_000395.3(CSF2RB):c.941C>G (p.Ala314Gly)	CSF2RB (A314G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000500	NM_000395.3(CSF2RB):c.86C>T (p.Pro29Leu)	CSF2RB (P29L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998424	NM_000395.3(CSF2RB):c.2112C>A (p.Asp704Glu)	CSF2RB (D710E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995807	NM_000395.3(CSF2RB):c.201-16T>C	LOC126863140, CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991088	NM_000395.3(CSF2RB):c.1374G>T (p.Leu458=)	CSF2RB	Single nucleotide variant (synonymous variant)	CSF2RB-related disorder +1 more	GLikely benign
Select item 2986736	NM_000395.3(CSF2RB):c.2690G>T (p.Cys897Phe)	CSF2RB (C897F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986674	NM_000395.3(CSF2RB):c.588C>T (p.Thr196=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983404	NM_000395.3(CSF2RB):c.2011G>A (p.Gly671Arg)	CSF2RB (G677R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983324	NM_000395.3(CSF2RB):c.889C>T (p.Leu297Phe)	CSF2RB (L303F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983228	NM_000395.3(CSF2RB):c.447G>C (p.Leu149=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981430	NM_000395.3(CSF2RB):c.1770T>C (p.Asn590=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980644	NM_000395.3(CSF2RB):c.201-17G>T	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980273	NM_000395.3(CSF2RB):c.1943_1944delinsGG (p.Pro648Arg)	CSF2RB (P648R +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2979821	NM_000395.3(CSF2RB):c.1087A>G (p.Met363Val)	CSF2RB (M363V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979804	NM_000395.3(CSF2RB):c.826C>G (p.Leu276Val)	CSF2RB (L276V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979658	NM_000395.3(CSF2RB):c.2532C>G (p.Pro844=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977960	NM_000395.3(CSF2RB):c.1124A>G (p.Gln375Arg)	CSF2RB (Q375R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975185	NM_000395.3(CSF2RB):c.1684C>T (p.Pro562Ser)	CSF2RB (P568S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974007	NM_000395.3(CSF2RB):c.644G>T (p.Arg215Leu)	CSF2RB (R215L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973433	NM_000395.3(CSF2RB):c.1153-15A>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970220	NM_000395.3(CSF2RB):c.8T>A (p.Leu3Gln)	CSF2RB (L3Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968569	NM_000395.3(CSF2RB):c.323T>C (p.Val108Ala)	CSF2RB, LOC126863140 (V108A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968031	NM_000395.3(CSF2RB):c.659C>T (p.Ser220Phe)	CSF2RB (S220F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967390	NM_000395.3(CSF2RB):c.1055A>T (p.Asp352Val)	CSF2RB (D352V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966979	NM_000395.3(CSF2RB):c.1651G>A (p.Gly551Arg)	CSF2RB (G551R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966318	NM_000395.3(CSF2RB):c.1512T>C (p.Thr504=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966133	NM_000395.3(CSF2RB):c.1893G>C (p.Leu631=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961736	NM_000395.3(CSF2RB):c.2295C>A (p.Gly765=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959556	NM_000395.3(CSF2RB):c.200+12T>C	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959439	NM_000395.3(CSF2RB):c.418C>A (p.Gln140Lys)	CSF2RB (Q140K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2959310	NM_000395.3(CSF2RB):c.829T>C (p.Phe277Leu)	CSF2RB (F277L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958103	NM_000395.3(CSF2RB):c.1624C>T (p.Pro542Ser)	CSF2RB (P542S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2919238	NM_000395.3(CSF2RB):c.318T>C (p.Thr106=)	CSF2RB, LOC126863140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918026	NM_000395.3(CSF2RB):c.1225T>C (p.Trp409Arg)	CSF2RB (W409R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916992	NM_000395.3(CSF2RB):c.1127A>G (p.Tyr376Cys)	CSF2RB (Y376C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909390	NM_000395.3(CSF2RB):c.578C>T (p.Ser193Phe)	CSF2RB (S193F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905311	NM_000395.3(CSF2RB):c.2010C>T (p.Ser670=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2905103	NM_000395.3(CSF2RB):c.1470G>A (p.Gly490=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904536	NM_000395.3(CSF2RB):c.2329C>T (p.Pro777Ser)	CSF2RB (P777S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904331	NM_000395.3(CSF2RB):c.1703G>T (p.Ser568Ile)	CSF2RB (S568I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901338	NM_000395.3(CSF2RB):c.874G>C (p.Val292Leu)	CSF2RB (V298L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900954	NM_000395.3(CSF2RB):c.1917G>T (p.Leu639=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898567	NM_000395.3(CSF2RB):c.191G>A (p.Arg64Gln)	CSF2RB (R64Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896911	NM_000395.3(CSF2RB):c.1550G>A (p.Arg517His)	CSF2RB (R517H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892765	NM_000395.3(CSF2RB):c.1799G>T (p.Arg600Leu)	CSF2RB (R606L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891183	NM_000395.3(CSF2RB):c.2627C>T (p.Ala876Val)	CSF2RB (A876V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890254	NM_000395.3(CSF2RB):c.783C>T (p.Ser261=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889615	NM_000395.3(CSF2RB):c.2487G>A (p.Gly829=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889195	NM_000395.3(CSF2RB):c.2224C>A (p.Pro742Thr)	CSF2RB (P748T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887829	NM_000395.3(CSF2RB):c.305G>A (p.Ser102Asn)	CSF2RB, LOC126863140 (S102N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885260	NM_000395.3(CSF2RB):c.190C>T (p.Arg64Trp)	CSF2RB (R64W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884750	NM_000395.3(CSF2RB):c.1979del (p.Gln660fs)	CSF2RB (Q660fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2880186	NM_000395.3(CSF2RB):c.1253G>T (p.Arg418Leu)	CSF2RB (R418L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879997	NM_000395.3(CSF2RB):c.77-13C>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873072	NM_000395.3(CSF2RB):c.1145C>T (p.Thr382Met)	CSF2RB (T382M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871431	NM_000395.3(CSF2RB):c.304A>T (p.Ser102Cys)	CSF2RB, LOC126863140 (S102C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871332	NM_000395.3(CSF2RB):c.2423C>T (p.Pro808Leu)	CSF2RB (P814L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869470	NM_000395.3(CSF2RB):c.1536G>A (p.Gly512=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863430	NM_000395.3(CSF2RB):c.742C>T (p.Leu248=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859681	NM_000395.3(CSF2RB):c.2419T>C (p.Ser807Pro)	CSF2RB (S813P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858629	NM_000395.3(CSF2RB):c.434A>C (p.Gln145Pro)	CSF2RB (Q145P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849319	NM_000395.3(CSF2RB):c.2552T>C (p.Leu851Pro)	CSF2RB (L857P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2846076	NM_000395.3(CSF2RB):c.719-4C>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841605	NM_000395.3(CSF2RB):c.2272C>G (p.Pro758Ala)	CSF2RB (P764A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835576	NM_000395.3(CSF2RB):c.831C>G (p.Phe277Leu)	CSF2RB (F277L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834572	NM_000395.3(CSF2RB):c.2231T>A (p.Leu744Ter)	CSF2RB (L750* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2831136	NM_000395.3(CSF2RB):c.2673C>G (p.Asn891Lys)	CSF2RB (N891K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2829998	NM_000395.3(CSF2RB):c.299G>T (p.Cys100Phe)	CSF2RB, LOC126863140 (C100F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828228	NM_000395.3(CSF2RB):c.1868C>T (p.Pro623Leu)	CSF2RB (P623L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827441	NM_000395.3(CSF2RB):c.697G>A (p.Val233Ile)	CSF2RB (V233I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827081	NM_000395.3(CSF2RB):c.218T>A (p.Val73Glu)	CSF2RB, LOC126863140 (V73E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825505	NM_000395.3(CSF2RB):c.1568+16G>C	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825056	NM_000395.3(CSF2RB):c.2422C>G (p.Pro808Ala)	CSF2RB (P814A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2823034	NM_000395.3(CSF2RB):c.77-11C>G	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820771	NM_000395.3(CSF2RB):c.2389G>C (p.Gly797Arg)	CSF2RB (G797R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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