C5193117[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 162128	NM_001288705.3(CSF1R):c.2350G>A (p.Val784Met)	CSF1R (V784M +1 more)	Single nucleotide variant (missense variant +1 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis	GLikely pathogenic
Select item 1029946	NM_001288705.3(CSF1R):c.1620T>A (p.Tyr540Ter)	CSF1R (Y392* +1 more)	Single nucleotide variant (nonsense +1 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis	GPathogenic
Select item 3064487	NM_001288705.3(CSF1R):c.828C>G (p.Tyr276Ter)	CSF1R (Y128* +1 more)	Single nucleotide variant (nonsense +1 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis	GLikely pathogenic

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