"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CSF1R"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 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 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 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 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 352176	NM_001288705.3(CSF1R):c.192C>T (p.Gly64=)	CSF1R	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GBenign

ClinVar