ClinVar for MedGen (Select 1794139) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2583156	NM_001288705.3(CSF1R):c.2768A>G (p.Tyr923Cys)	CSF1R (Y775C +1 more)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy, diffuse hereditary, with spheroids 1	GLikely pathogenic
Select item 2575888	NM_001288705.3(CSF1R):c.2471C>T (p.Pro824Leu)	CSF1R (P676L +1 more)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy, diffuse hereditary, with spheroids 1	GPathogenic
Select item 2503453	NM_001288705.3(CSF1R):c.2377A>G (p.Lys793Glu)	CSF1R (K645E +1 more)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy, diffuse hereditary, with spheroids 1	GLikely pathogenic
Select item 1530812	NM_001288705.3(CSF1R):c.1938C>T (p.Ile646=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1516273	NM_001288705.3(CSF1R):c.1961C>A (p.Thr654Asn)	CSF1R (T506N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1465714	NM_001288705.3(CSF1R):c.656C>A (p.Ala219Asp)	CSF1R, LOC111188154 (A219D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1420666	NM_001288705.3(CSF1R):c.2073G>C (p.Gln691His)	CSF1R (Q543H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1368621	NM_001288705.3(CSF1R):c.2179A>G (p.Arg727Gly)	CSF1R (R579G +1 more)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy, diffuse hereditary, with spheroids 1 +1 more	GUncertain significance
Select item 1328247	NM_001288705.3(CSF1R):c.1510+16C>T	CSF1R	Single nucleotide variant (intron variant)	Brain abnormalities, neurodegeneration, and dysosteosclerosis +2 more	GBenign
Select item 1297008	NM_001288705.3(CSF1R):c.2344C>T (p.Arg782Cys)	CSF1R (R634C +1 more)	Single nucleotide variant (missense variant +1 more)	CSF1R-related condition +3 more	GLikely pathogenic
Select item 1029947	NM_001288705.3(CSF1R):c.2503C>T (p.Gln835Ter)	CSF1R (Q687* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary diffuse leukoencephalopathy with spheroids +1 more	GLikely pathogenic
Select item 987111	NM_001288705.3(CSF1R):c.1649G>A (p.Trp550Ter)	CSF1R (W402* +1 more)	Single nucleotide variant (nonsense +1 more)	Leukoencephalopathy, diffuse hereditary, with spheroids 1 +1 more	GUncertain significance
Select item 982040	NM_001288705.3(CSF1R):c.1772G>A (p.Gly591Glu)	CSF1R (G443E +1 more)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy, diffuse hereditary, with spheroids 1 +1 more	GLikely pathogenic
Select item 976023	NM_001288705.3(CSF1R):c.2720_2722del (p.Cys907del)	CSF1R (C759del +1 more)	Deletion (inframe_deletion +1 more)	Leukoencephalopathy, diffuse hereditary, with spheroids 1 +1 more	GUncertain significance
Select item 973001	NM_001288705.3(CSF1R):c.1765G>A (p.Gly589Arg)	CSF1R (G441R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 352176	NM_001288705.3(CSF1R):c.192C>T (p.Gly64=)	CSF1R	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GBenign
Select item 352142	NM_001288705.3(CSF1R):c.1929C>T (p.His643=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids +4 more	GBenign
Select item 38378	NM_001288705.3(CSF1R):c.2345G>A (p.Arg782His)	CSF1R (R782H +1 more)	Single nucleotide variant (missense variant +1 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis +3 more	GPathogenic/Likely pathogenic