C3711381[trait identifier] AND "Genome Diagnostics Laboratory, Amsterd - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 352125	NM_001288705.3(CSF1R):c.2799T>C (p.Gly933=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 444667	NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys)	CSF1R (E916K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids +2 more	GConflicting classifications of pathogenicity
Select item 352130	NM_001288705.3(CSF1R):c.2709C>T (p.Phe903=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 352132	NM_001288705.3(CSF1R):c.2535C>G (p.Leu845=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 352136	NM_001288705.3(CSF1R):c.2239G>A (p.Gly747Arg)	CSF1R (G747R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 352141	NM_001288705.3(CSF1R):c.2132+5C>T	CSF1R	Single nucleotide variant (intron variant)	Hereditary diffuse leukoencephalopathy with spheroids +1 more	GBenign
Select item 352147	NM_001288705.3(CSF1R):c.1626+7C>T	CSF1R	Single nucleotide variant (intron variant)	Hereditary diffuse leukoencephalopathy with spheroids +1 more	GBenign
Select item 352154	NM_001288705.3(CSF1R):c.1237G>A (p.Gly413Ser)	CSF1R (G413S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 352155	NM_001288705.3(CSF1R):c.1179G>A (p.Thr393=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids +1 more	GConflicting classifications of pathogenicity
Select item 352157	NM_001288705.3(CSF1R):c.1085A>G (p.His362Arg)	CSF1R (H362R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids +1 more	GBenign
Select item 352162	NM_001288705.3(CSF1R):c.764A>T (p.Asn255Ile)	CSF1R (N255I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 352163	NM_001288705.3(CSF1R):c.733G>T (p.Ala245Ser)	CSF1R (A245S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids +1 more	GBenign
Select item 352165	NM_001288705.3(CSF1R):c.726C>T (p.Thr242=)	CSF1R, LOC111188154	Single nucleotide variant (synonymous variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids +2 more	GBenign
Select item 352166	NM_001288705.3(CSF1R):c.721A>G (p.Asn241Asp)	CSF1R, LOC111188154 (N241D +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids +1 more	GBenign
Select item 352169	NM_001288705.3(CSF1R):c.316C>T (p.Arg106Trp)	CSF1R (R106W)	Single nucleotide variant (missense variant +2 more)	Hereditary diffuse leukoencephalopathy with spheroids +2 more	GConflicting classifications of pathogenicity
Select item 352171	NM_001288705.3(CSF1R):c.294C>T (p.His98=)	CSF1R	Single nucleotide variant (synonymous variant +2 more)	Hereditary diffuse leukoencephalopathy with spheroids +1 more	GBenign
Select item 352172	NM_001288705.3(CSF1R):c.282C>T (p.Ser94=)	CSF1R	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 352173	NM_001288705.3(CSF1R):c.268C>A (p.Pro90Thr)	CSF1R (P90T)	Single nucleotide variant (missense variant +2 more)	not provided +1 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 +1 more	GBenign/Likely benign
Select item 352179	NM_001288705.3(CSF1R):c.84T>C (p.Pro28=)	CSF1R	Single nucleotide variant (synonymous variant +2 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis +2 more	GBenign

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Items: 20