"CSF1R-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 352122	NM_001288705.3(CSF1R):c.2886C>T (p.Pro962=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	CSF1R-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 352123	NM_001288705.3(CSF1R):c.2862C>T (p.Cys954=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	CSF1R-related disorder +2 more	GBenign/Likely benign
Select item 352125	NM_001288705.3(CSF1R):c.2799T>C (p.Gly933=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 3050709	NM_001288705.3(CSF1R):c.2763+9G>A	CSF1R	Single nucleotide variant (intron variant)	CSF1R-related disorder	GLikely benign
Select item 352128	NM_001288705.3(CSF1R):c.2761C>T (p.Arg921Trp)	CSF1R (R921W +1 more)	Single nucleotide variant (missense variant +1 more)	CSF1R-related disorder +2 more	GBenign/Likely benign
Select item 352130	NM_001288705.3(CSF1R):c.2709C>T (p.Phe903=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	CSF1R-related disorder +2 more	GBenign
Select item 374569	NM_001288705.3(CSF1R):c.2606T>G (p.Val869Gly)	CSF1R (V869G +1 more)	Single nucleotide variant (missense variant +1 more)	CSF1R-related disorder +1 more	GUncertain significance
Select item 1210004	NM_001288705.3(CSF1R):c.2554+3G>A	CSF1R	Single nucleotide variant (intron variant)	CSF1R-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1352773	NM_001288705.3(CSF1R):c.2392G>A (p.Gly798Arg)	CSF1R (G798R +1 more)	Single nucleotide variant (missense variant +1 more)	CSF1R-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 29813	NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr)	CSF1R (I794T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids +2 more	GPathogenic/Likely pathogenic
Select item 1297008	NM_001288705.3(CSF1R):c.2344C>T (p.Arg782Cys)	CSF1R (R634C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GLikely pathogenic
Select item 2415885	NM_001288705.3(CSF1R):c.2343G>A (p.Ala781=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 162111	NM_001288705.3(CSF1R):c.2330G>A (p.Arg777Gln)	CSF1R (R777Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 2051119	NM_001288705.3(CSF1R):c.2257C>T (p.Arg753Trp)	CSF1R (R753W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 904048	NM_001288705.3(CSF1R):c.2129G>A (p.Arg710His)	CSF1R (R562H +1 more)	Single nucleotide variant (missense variant)	CSF1R-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 735513	NM_001288705.3(CSF1R):c.2082G>A (p.Glu694=)	CSF1R	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1468836	NM_001288705.3(CSF1R):c.2007C>T (p.Gly669=)	CSF1R	Single nucleotide variant (synonymous variant)	CSF1R-related disorder +1 more	GLikely benign
Select item 3058331	NM_001288705.3(CSF1R):c.1969+125C>T	CSF1R	Single nucleotide variant (intron variant)	CSF1R-related disorder	GLikely benign
Select item 352142	NM_001288705.3(CSF1R):c.1929C>T (p.His643=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis +4 more	GBenign
Select item 1210062	NM_001288705.3(CSF1R):c.1913G>C (p.Ser638Thr)	CSF1R (S490T +1 more)	Single nucleotide variant (missense variant +1 more)	CSF1R-related disorder +1 more	GUncertain significance
Select item 2991183	NM_001288705.3(CSF1R):c.1816A>G (p.Lys606Glu)	CSF1R (K606E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	CSF1R-related disorder +1 more	GUncertain significance
Select item 2787946	NM_001288705.3(CSF1R):c.1704G>A (p.Gln568=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	CSF1R-related disorder +1 more	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 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 711934	NM_001288705.3(CSF1R):c.1552G>A (p.Val518Met)	CSF1R (V518M +1 more)	Single nucleotide variant (missense variant +1 more)	CSF1R-related disorder +2 more	GBenign
Select item 1546366	NM_001288705.3(CSF1R):c.1517A>C (p.His506Pro)	CSF1R (H358P +1 more)	Single nucleotide variant (missense variant +1 more)	CSF1R-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2085206	NM_001288705.3(CSF1R):c.1496T>A (p.Ile499Lys)	CSF1R (I499K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2630575	NM_001288705.3(CSF1R):c.1492T>C (p.Phe498Leu)	CSF1R (F350L +1 more)	Single nucleotide variant (missense variant +1 more)	CSF1R-related disorder	GUncertain significance
Select item 2985230	NM_001288705.3(CSF1R):c.1125G>A (p.Glu375=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	CSF1R-related disorder +1 more	GBenign/Likely benign
Select item 352156	NM_001288705.3(CSF1R):c.1111C>T (p.Leu371=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	CSF1R-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1620863	NM_001288705.3(CSF1R):c.993G>A (p.Leu331=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	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 1415854	NM_001288705.3(CSF1R):c.924C>G (p.Asn308Lys)	CSF1R (N160K +1 more)	Single nucleotide variant (missense variant +1 more)	CSF1R-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 904114	NM_001288705.3(CSF1R):c.895G>A (p.Ala299Thr)	CSF1R (A151T +1 more)	Single nucleotide variant (missense variant +1 more)	CSF1R-related disorder +2 more	GLikely benign
Select item 352159	NM_001288705.3(CSF1R):c.881G>A (p.Arg294Gln)	CSF1R (R294Q +1 more)	Single nucleotide variant (missense variant +1 more)	CSF1R-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 352160	NM_001288705.3(CSF1R):c.835G>A (p.Val279Met)	CSF1R (V279M +1 more)	Single nucleotide variant (missense variant +1 more)	CSF1R-related disorder +2 more	GBenign
Select item 1328240	NM_001288705.3(CSF1R):c.819C>T (p.Ala273=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	CSF1R-related disorder +1 more	GLikely benign
Select item 352161	NM_001288705.3(CSF1R):c.802G>A (p.Val268Ile)	CSF1R (V268I +1 more)	Single nucleotide variant (missense variant +1 more)	CSF1R-related disorder +2 more	GBenign/Likely benign
Select item 352162	NM_001288705.3(CSF1R):c.764A>T (p.Asn255Ile)	CSF1R (N255I +1 more)	Single nucleotide variant (missense variant +1 more)	CSF1R-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3033679	NM_001288705.3(CSF1R):c.684C>T (p.Ser228=)	CSF1R, LOC111188154	Single nucleotide variant (synonymous variant +1 more)	CSF1R-related disorder	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 1564719	NM_001288705.3(CSF1R):c.470C>T (p.Ser157Leu)	CSF1R (S157L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 748366	NM_001288705.3(CSF1R):c.368C>G (p.Ala123Gly)	CSF1R (A123G)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely 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 352172	NM_001288705.3(CSF1R):c.282C>T (p.Ser94=)	CSF1R	Single nucleotide variant (synonymous variant +2 more)	CSF1R-related disorder +2 more	GBenign/Likely benign
Select item 1577297	NM_001288705.3(CSF1R):c.237G>A (p.Thr79=)	CSF1R	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 352176	NM_001288705.3(CSF1R):c.192C>T (p.Gly64=)	CSF1R	Single nucleotide variant (synonymous variant +2 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis +4 more	GBenign
Select item 352178	NM_001288705.3(CSF1R):c.95T>G (p.Val32Gly)	CSF1R (V32G)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 1529498	NM_001288705.3(CSF1R):c.93C>A (p.Val31=)	CSF1R	Single nucleotide variant (synonymous variant +2 more)	CSF1R-related disorder +1 more	GLikely benign

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Items: 49