"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harva - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 218366	NM_021729.6(VPS11):c.2536T>G (p.Cys846Gly)	VPS11 (C846G +4 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 12 +1 more	GPathogenic/Likely pathogenic
Select item 635068	NM_021729.6(VPS11):c.2557A>G (p.Ser853Gly)	VPS11 (S853G +4 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 12	GUncertain significance