ClinVar for Gene (Select 1436) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375581	NM_001288705.3(CSF1R):c.2282A>G (p.Gln761Arg)	CSF1R (Q613R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373280	NM_001288705.3(CSF1R):c.2246C>T (p.Pro749Leu)	CSF1R (P601L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372387	NM_001288705.3(CSF1R):c.2008G>A (p.Asp670Asn)	CSF1R (D522N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372261	NM_001288705.3(CSF1R):c.846C>A (p.Asn282Lys)	CSF1R (N134K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369624	NM_001288705.3(CSF1R):c.689A>G (p.Asp230Gly)	CSF1R, LOC111188154 (D230G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367049	NM_001288705.3(CSF1R):c.1510G>A (p.Gly504Arg)	CSF1R (G356R +1 more)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy, diffuse hereditary, with spheroids 1	GUncertain significance
Select item 3363782	NM_001288705.3(CSF1R):c.2510A>T (p.Asp837Val)	CSF1R (D689V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359066	NM_001288705.3(CSF1R):c.2287G>A (p.Ala763Thr)	CSF1R (A615T +1 more)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy, diffuse hereditary, with spheroids 1	GLikely pathogenic
Select item 3358844	NM_001288705.3(CSF1R):c.1530G>A (p.Pro510=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	CSF1R-related disorder	GLikely benign
Select item 3350709	NM_001288705.3(CSF1R):c.1078T>C (p.Tyr360His)	CSF1R (Y212H +1 more)	Single nucleotide variant (missense variant +1 more)	CSF1R-related disorder	GUncertain significance
Select item 3348588	NM_001288705.3(CSF1R):c.1969+110G>A	CSF1R	Single nucleotide variant (intron variant)	CSF1R-related disorder	GLikely benign
Select item 3337973	NM_001288705.3(CSF1R):c.979G>T (p.Ala327Ser)	CSF1R (A179S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3337972	NM_001288705.3(CSF1R):c.2380A>T (p.Ile794Phe)	CSF1R (I646F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3269753	NM_001288705.3(CSF1R):c.1088C>A (p.Thr363Asn)	CSF1R (T215N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3269751	NM_001288705.3(CSF1R):c.2371G>A (p.Val791Met)	CSF1R (V643M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3269750	NM_001288705.3(CSF1R):c.2687A>T (p.Glu896Val)	CSF1R (E748V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3269749	NM_001288705.3(CSF1R):c.2903A>G (p.Asn968Ser)	CSF1R (N820S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3251449	NM_001288705.3(CSF1R):c.2545T>A (p.Phe849Ile)	CSF1R (F701I +1 more)	Single nucleotide variant (missense variant +1 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis	GLikely pathogenic
Select item 3239571	NM_001288705.3(CSF1R):c.254C>T (p.Thr85Ile)	CSF1R (T85I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3236418	NM_001288705.3(CSF1R):c.1232T>C (p.Ile411Thr)	CSF1R (I263T +1 more)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy, diffuse hereditary, with spheroids 1	GUncertain significance
Select item 3077988	NM_001288705.3(CSF1R):c.2843G>A (p.Ser948Asn)	CSF1R (S800N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3077987	NM_001288705.3(CSF1R):c.145G>A (p.Glu49Lys)	CSF1R (E49K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3069042	NM_001288705.3(CSF1R):c.2549C>A (p.Ser850Ter)	CSF1R (S702* +1 more)	Single nucleotide variant (nonsense +1 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis	GPathogenic
Select item 3068555	NM_001288705.3(CSF1R):c.2339C>T (p.Ala780Val)	CSF1R (A632V +1 more)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy, diffuse hereditary, with spheroids 1	GLikely pathogenic
Select item 3064487	NM_001288705.3(CSF1R):c.828C>G (p.Tyr276Ter)	CSF1R (Y128* +1 more)	Single nucleotide variant (nonsense +1 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis	GLikely pathogenic
Select item 3058331	NM_001288705.3(CSF1R):c.1969+125C>T	CSF1R	Single nucleotide variant (intron variant)	CSF1R-related disorder	GLikely benign
Select item 3054069	NM_001288705.3(CSF1R):c.1647C>T (p.Arg549=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	CSF1R-related disorder	GLikely benign
Select item 3050709	NM_001288705.3(CSF1R):c.2763+9G>A	CSF1R	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3048753	NM_001288705.3(CSF1R):c.528A>G (p.Gln176=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	CSF1R-related disorder	GLikely benign
Select item 3046193	NM_001288705.3(CSF1R):c.1685C>G (p.Thr562Ser)	CSF1R (T414S +1 more)	Single nucleotide variant (missense variant +1 more)	CSF1R-related disorder	GUncertain significance
Select item 3033679	NM_001288705.3(CSF1R):c.684C>T (p.Ser228=)	LOC111188154, CSF1R	Single nucleotide variant (synonymous variant +1 more)	CSF1R-related disorder	GLikely benign
Select item 3032215	NM_001288705.3(CSF1R):c.966A>G (p.Lys322=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	CSF1R-related disorder	GLikely benign
Select item 3029982	NM_001288705.3(CSF1R):c.306dup (p.Asp103fs)	CSF1R (D103fs)	Duplication (frameshift variant +2 more)	CSF1R-related disorder	GUncertain significance
Select item 3026935	NM_001288705.3(CSF1R):c.1682_1683insAA (p.Tyr561Ter)	CSF1R (Y413* +1 more)	Insertion (nonsense +1 more)	not provided	GPathogenic
Select item 3026543	NM_001288705.3(CSF1R):c.797A>G (p.Asp266Gly)	CSF1R (D118G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3023954	NM_001288705.3(CSF1R):c.2887T>C (p.Leu963=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3023188	NM_001288705.3(CSF1R):c.1970-20C>T	CSF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016274	NM_001288705.3(CSF1R):c.411C>T (p.Gly137=)	CSF1R	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3015455	NM_001288705.3(CSF1R):c.285C>T (p.Ala95=)	CSF1R	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3013503	NM_001288705.3(CSF1R):c.369A>C (p.Ala123=)	CSF1R	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3011524	NM_001288705.3(CSF1R):c.1509A>C (p.Ala503=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3010244	NM_001288705.3(CSF1R):c.49+18G>T	CSF1R, LOC111188156	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009665	NM_001288705.3(CSF1R):c.2782A>G (p.Ser928Gly)	CSF1R (S928G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3008201	NM_001288705.3(CSF1R):c.2132+5C>A	CSF1R	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3006756	NM_001288705.3(CSF1R):c.2117del (p.Lys706fs)	CSF1R (K706fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3005930	NM_001288705.3(CSF1R):c.670T>A (p.Cys224Ser)	CSF1R, LOC111188154 (C76S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3005880	NM_001288705.3(CSF1R):c.1667A>G (p.Tyr556Cys)	CSF1R (Y408C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3005537	NM_001288705.3(CSF1R):c.362A>G (p.Gln121Arg)	CSF1R (Q121R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3005076	NM_001288705.3(CSF1R):c.896C>T (p.Ala299Val)	CSF1R (A299V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3004080	NM_001288705.3(CSF1R):c.1627-3C>T	CSF1R	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3003817	NM_001288705.3(CSF1R):c.767G>A (p.Arg256His)	CSF1R (R256H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3003433	NM_001288705.3(CSF1R):c.2764-16T>A	CSF1R	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3003134	NM_001288705.3(CSF1R):c.535G>A (p.Ala179Thr)	CSF1R (A179T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3001371	NM_001288705.3(CSF1R):c.933G>A (p.Gln311=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998796	NM_001288705.3(CSF1R):c.890-3C>T	CSF1R	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2997897	NM_001288705.3(CSF1R):c.735A>G (p.Ala245=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993573	NM_001288705.3(CSF1R):c.2740G>C (p.Ala914Pro)	CSF1R (A914P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2991183	NM_001288705.3(CSF1R):c.1816A>G (p.Lys606Glu)	CSF1R (K606E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2989222	NM_001288705.3(CSF1R):c.2655-18del	CSF1R	Deletion (intron variant)	not provided	GLikely benign
Select item 2988760	NM_001288705.3(CSF1R):c.963C>A (p.Leu321=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2988270	NM_001288705.3(CSF1R):c.957C>T (p.Leu319=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2986376	NM_001288705.3(CSF1R):c.626C>T (p.Pro209Leu)	CSF1R, LOC111188154 (P209L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2985230	NM_001288705.3(CSF1R):c.1125G>A (p.Glu375=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2984232	NM_001288705.3(CSF1R):c.1626+8G>A	CSF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983232	NM_001288705.3(CSF1R):c.1680T>C (p.Ser560=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2983171	NM_001288705.3(CSF1R):c.2793_2819del (p.Arg931_Ser939del)	CSF1R	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2981257	NM_001288705.3(CSF1R):c.2847G>A (p.Glu949=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976871	NM_001288705.3(CSF1R):c.2320-12G>A	CSF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974275	NM_001288705.3(CSF1R):c.593-12C>A	CSF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973228	NM_001288705.3(CSF1R):c.318G>A (p.Arg106=)	CSF1R	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2972819	NM_001288705.3(CSF1R):c.2172G>A (p.Val724=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2971321	NM_001288705.3(CSF1R):c.732C>T (p.Leu244=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970292	NM_001288705.3(CSF1R):c.1754-8C>T	CSF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970126	NM_001288705.3(CSF1R):c.1077A>G (p.Thr359=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2967998	NM_001288705.3(CSF1R):c.2860T>C (p.Cys954Arg)	CSF1R (C806R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2966283	NM_001288705.3(CSF1R):c.1199-17C>T	CSF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965970	NM_001288705.3(CSF1R):c.1319+8G>T	CSF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964667	NM_001288705.3(CSF1R):c.310C>T (p.Pro104Ser)	CSF1R (P104S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2960340	NM_001288705.3(CSF1R):c.934G>A (p.Glu312Lys)	CSF1R (E164K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2959448	NM_001288705.3(CSF1R):c.1440C>T (p.Asn480=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2958754	NM_001288705.3(CSF1R):c.890-18G>T	CSF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958649	NM_001288705.3(CSF1R):c.1572C>T (p.Ser524=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2957320	NM_001288705.3(CSF1R):c.2262C>T (p.Asp754=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2956767	NM_001288705.3(CSF1R):c.186T>C (p.Ser62=)	CSF1R	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2955012	NM_001288705.3(CSF1R):c.286G>A (p.Ala96Thr)	CSF1R (A96T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2918694	NM_001288705.3(CSF1R):c.1717G>A (p.Glu573Lys)	CSF1R (E573K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2909386	NM_001288705.3(CSF1R):c.1108C>T (p.Arg370Cys)	CSF1R (R222C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2906034	NM_001288705.3(CSF1R):c.2263C>T (p.Leu755=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2904552	NM_001288705.3(CSF1R):c.2511C>T (p.Asp837=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2899260	NM_001288705.3(CSF1R):c.1302C>T (p.Cys434=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2896056	NM_001288705.3(CSF1R):c.396G>A (p.Pro132=)	CSF1R	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2889632	NM_001288705.3(CSF1R):c.308-11_308-9del	CSF1R	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2887492	NM_001288705.3(CSF1R):c.2056_2079del (p.Ser686_Pro693del)	CSF1R	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2878740	NM_001288705.3(CSF1R):c.1233C>T (p.Ile411=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2876574	NM_001288705.3(CSF1R):c.1510+14T>C	CSF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876133	NM_001288705.3(CSF1R):c.1468A>G (p.Ser490Gly)	CSF1R (S490G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2875604	NM_001288705.3(CSF1R):c.2885C>T (p.Pro962Leu)	CSF1R (P814L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2874820	NM_001288705.3(CSF1R):c.2199A>G (p.Ser733=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2873826	NM_001288705.3(CSF1R):c.1611G>T (p.Leu537Phe)	CSF1R (L389F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2873503	NM_001288705.3(CSF1R):c.2376C>T (p.Ala792=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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