ClinVar for MedGen (Select 863597) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242109	NM_181503.3(EXOSC8):c.17+5del	EXOSC8, LOC130009581	Deletion (intron variant)	Pontocerebellar hypoplasia, type 1C	GUncertain significance
Select item 3238835	NM_181503.3(EXOSC8):c.628C>A (p.Pro210Thr)	EXOSC8 (P210T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 1C	GUncertain significance
Select item 2441309	NM_181503.3(EXOSC8):c.241C>T (p.Pro81Ser)	EXOSC8 (P81S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 1C	GUncertain significance
Select item 2185125	NM_181503.3(EXOSC8):c.540_544del (p.Asn180fs)	EXOSC8 (N180fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1027899	NM_181503.3(EXOSC8):c.13T>C (p.Phe5Leu)	EXOSC8, LOC130009581 (F5L)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 1C +2 more	GConflicting classifications of pathogenicity
Select item 870727	NM_181503.3(EXOSC8):c.734dup (p.Ala246fs)	EXOSC8 (A246fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 870726	NM_181503.3(EXOSC8):c.89_91del (p.Gly30del)	EXOSC8 (G30del)	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
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
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 802960	NM_181503.3(EXOSC8):c.321G>A (p.Gln107=)	EXOSC8	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia, type 1C +1 more	GBenign
Select item 548522	NM_181503.3(EXOSC8):c.781G>T (p.Glu261Ter)	EXOSC8 (E261*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia, type 1C	GUncertain significance
Select item 235309	NM_181503.3(EXOSC8):c.55-10_55-9del	EXOSC8	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 157609	NM_181503.3(EXOSC8):c.5C>T (p.Ala2Val)	EXOSC8 (A2V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 1C	GPathogenic
Select item 157608	NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)	EXOSC8 (S272T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 1C +1 more	GConflicting classifications of pathogenicity