"OMIM"[submitter] AND "CSF1R"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 29810	NM_001288705.3(CSF1R):c.2624T>C (p.Met875Thr)	CSF1R (M875T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GPathogenic
Select item 29814	NM_001288705.3(CSF1R):c.2509G>T (p.Asp837Tyr)	CSF1R (D837Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GPathogenic
Select item 120323	NM_001288705.3(CSF1R):c.2442+1G>T	CSF1R	Single nucleotide variant (splice donor variant)	Hereditary diffuse leukoencephalopathy with spheroids	GPathogenic
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 +1 more	GPathogenic/Likely pathogenic
Select item 38378	NM_001288705.3(CSF1R):c.2345G>A (p.Arg782His)	CSF1R (R782H +1 more)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy, diffuse hereditary, with spheroids 1 +3 more	GPathogenic/Likely pathogenic
Select item 120324	NM_001288705.3(CSF1R):c.2342C>A (p.Ala781Glu)	CSF1R (A781E +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GPathogenic
Select item 120322	NM_001288705.3(CSF1R):c.2060dup (p.Ser688fs)	CSF1R (S688fs +1 more)	Duplication (frameshift variant)	Hereditary diffuse leukoencephalopathy with spheroids	GPathogenic
Select item 635123	NM_001288705.3(CSF1R):c.1969+115_1969+116del	CSF1R	Deletion (intron variant)	not provided	GPathogenic
Select item 635125	NM_001288705.3(CSF1R):c.1929C>A (p.His643Gln)	CSF1R (H643Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 29811	NM_001288705.3(CSF1R):c.1897G>A (p.Glu633Lys)	CSF1R (E633K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 452495	NM_001288705.3(CSF1R):c.1879_1881del (p.Lys627del)	CSF1R (K627del +1 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 635121	NM_001288705.3(CSF1R):c.1859-119G>A	CSF1R	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 635124	NM_001288705.3(CSF1R):c.1754-1G>C	CSF1R	Single nucleotide variant (splice acceptor variant)	Brain abnormalities, neurodegeneration, and dysosteosclerosis	GPathogenic
Select item 29812	NM_001288705.3(CSF1R):c.1754-2A>G	CSF1R	Single nucleotide variant (splice acceptor variant)	Hereditary diffuse leukoencephalopathy with spheroids	GPathogenic
Select item 520697	NM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter)	CSF1R (Q481* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 635119	NM_001288705.3(CSF1R):c.395C>T (p.Pro132Leu)	CSF1R (P132L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance