ClinVar for Gene (Select 1436) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 821

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 condition	GLikely benign
Select item 3054069	NM_001288705.3(CSF1R):c.1647C>T (p.Arg549=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	CSF1R-related condition	GLikely benign
Select item 3050709	NM_001288705.3(CSF1R):c.2763+9G>A	CSF1R	Single nucleotide variant (intron variant)	CSF1R-related condition	GLikely benign
Select item 3048753	NM_001288705.3(CSF1R):c.528A>G (p.Gln176=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	CSF1R-related condition	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 condition	GUncertain significance
Select item 3033679	NM_001288705.3(CSF1R):c.684C>T (p.Ser228=)	CSF1R, LOC111188154	Single nucleotide variant (synonymous variant +1 more)	CSF1R-related condition	GLikely benign
Select item 3032215	NM_001288705.3(CSF1R):c.966A>G (p.Lys322=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	CSF1R-related condition	GLikely benign
Select item 3029982	NM_001288705.3(CSF1R):c.306dup (p.Asp103fs)	CSF1R (D103fs)	Duplication (frameshift variant +2 more)	CSF1R-related condition	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)	CSF1R-related condition +1 more	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)	CSF1R-related condition +1 more	GBenign/Likely benign
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 (non-coding transcript 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 (non-coding transcript 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
Select item 2871705	NM_001288705.3(CSF1R):c.394C>G (p.Pro132Ala)	CSF1R (P132A)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2865291	NM_001288705.3(CSF1R):c.929T>A (p.Ile310Asn)	CSF1R (I162N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2864531	NM_001288705.3(CSF1R):c.2068G>A (p.Gly690Ser)	CSF1R (G542S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2863723	NM_001288705.3(CSF1R):c.1510+12C>T	CSF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863557	NM_001288705.3(CSF1R):c.1371C>G (p.Val457=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2862563	NM_001288705.3(CSF1R):c.1108C>A (p.Arg370Ser)	CSF1R (R370S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2854700	NM_001288705.3(CSF1R):c.2833G>A (p.Glu945Lys)	CSF1R (E945K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2849828	NM_001288705.3(CSF1R):c.2823G>A (p.Glu941=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2836533	NM_001288705.3(CSF1R):c.1560C>A (p.Val520=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2831775	NM_001288705.3(CSF1R):c.666C>G (p.Ile222Met)	CSF1R, LOC111188154 (I74M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2830549	NM_001288705.3(CSF1R):c.2342C>G (p.Ala781Gly)	CSF1R (A781G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2828122	NM_001288705.3(CSF1R):c.2797_2814del (p.Gly933_Ser938del)	CSF1R	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2824622	NM_001288705.3(CSF1R):c.41C>T (p.Ala14Val)	CSF1R, LOC111188156 (A14V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2822722	NM_001288705.3(CSF1R):c.1969+5G>C	CSF1R	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2815090	NM_001288705.3(CSF1R):c.2012T>C (p.Leu671Pro)	CSF1R (L523P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812426	NM_001288705.3(CSF1R):c.2006G>A (p.Gly669Asp)	CSF1R (G669D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803360	NM_001288705.3(CSF1R):c.236C>T (p.Thr79Met)	CSF1R (T79M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2802641	NM_001288705.3(CSF1R):c.2654+14T>C	CSF1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2801042	NM_001288705.3(CSF1R):c.1249C>A (p.Leu417Ile)	CSF1R (L269I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2800779	NM_001288705.3(CSF1R):c.2643C>T (p.Ala881=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2795626	NM_001288705.3(CSF1R):c.1040C>T (p.Pro347Leu)	CSF1R (P199L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2790058	NM_001288705.3(CSF1R):c.1047del (p.Lys350fs)	CSF1R (K350fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic

<< First< Prev

Page of 9