C5193117[trait identifier] AND "OMIM"[submitter] - 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 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 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 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

ClinVar