"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976041	NM_001288705.3(CSF1R):c.35_36delinsTC	CSF1R	Indel (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
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 162120	NM_001288705.3(CSF1R):c.2629C>T (p.Gln877Ter)	CSF1R (Q877* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GLikely pathogenic
Select item 1299346	NM_001288705.3(CSF1R):c.2563C>T (p.Pro855Ser)	CSF1R (P707S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids +1 more	GConflicting classifications of pathogenicity
Select item 162114	NM_001288705.3(CSF1R):c.2541G>C (p.Glu847Asp)	CSF1R (E847D +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GLikely pathogenic
Select item 976404	NM_001288705.3(CSF1R):c.2517G>T (p.Trp839Cys)	CSF1R (W691C +1 more)	Single nucleotide variant (missense variant +1 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis	GUncertain significance
Select item 1338803	NM_001288705.3(CSF1R):c.2467G>A (p.Ala823Thr)	CSF1R (A675T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GLikely pathogenic
Select item 1297008	NM_001288705.3(CSF1R):c.2344C>T (p.Arg782Cys)	CSF1R (R634C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GLikely pathogenic
Select item 1285412	NM_001288705.3(CSF1R):c.1754-3C>G	CSF1R	Single nucleotide variant (intron variant)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance