"Illumina Laboratory Services, Illumina"[submitter] AND "LOC111188156" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 907499	NM_001288705.3(CSF1R):c.49+14G>C	CSF1R, LOC111188156	Single nucleotide variant (intron variant)	Hereditary diffuse leukoencephalopathy with spheroids +1 more	GLikely benign
Select item 352180	NM_001288705.3(CSF1R):c.13G>C (p.Val5Leu)	CSF1R, LOC111188156 (V5L)	Single nucleotide variant (missense variant +2 more)	Hereditary diffuse leukoencephalopathy with spheroids	GLikely benign
Select item 907500	NM_001288705.3(CSF1R):c.-2C>T	CSF1R, LOC111188156	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 352181	NM_001288705.3(CSF1R):c.-25T>A	CSF1R, LOC111188156	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary diffuse leukoencephalopathy with spheroids	GBenign
Select item 352182	NM_001288705.3(CSF1R):c.-101G>T	CSF1R, LOC111188156	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 352183	NM_001288705.3(CSF1R):c.-102C>T	CSF1R, LOC111188156	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 904173	NM_001288705.3(CSF1R):c.-115C>A	CSF1R, LOC111188156	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance

ClinVar