"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 813914	NM_181503.3(EXOSC8):c.17+1G>T	EXOSC8, LOC130009581	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia, type 1C	GUncertain significance
Select item 813915	NM_181503.3(EXOSC8):c.695T>C (p.Leu232Pro)	EXOSC8 (L232P)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 1C	GUncertain significance