ClinVar for MedGen (Select 1794215) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1701717	NM_020158.4(EXOSC5):c.24C>G (p.Asp8Glu)	EXOSC5 (D8E)	Single nucleotide variant (missense variant)	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	GUncertain significance
Select item 1307391	NM_020158.4(EXOSC5):c.443T>C (p.Met148Thr)	EXOSC5 (M148T)	Single nucleotide variant (missense variant)	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects +1 more	GUncertain significance
Select item 1300248	NM_020158.4(EXOSC5):c.302C>A (p.Thr101Lys)	EXOSC5	Single nucleotide variant (missense variant)	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	GPathogenic/Likely pathogenic
Select item 1300247	NM_020158.4(EXOSC5):c.87del (p.His30fs)	EXOSC5 (H30fs)	Deletion (frameshift variant)	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	GPathogenic
Select item 1300246	NM_020158.4(EXOSC5):c.617T>A (p.Leu206His)	EXOSC5	Single nucleotide variant (missense variant)	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	GPathogenic
Select item 1300245	NM_020158.4(EXOSC5):c.526-72_689del	EXOSC5	Deletion (splice acceptor variant +1 more)	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	GPathogenic
Select item 1300244	NM_020158.4(EXOSC5):c.341C>T (p.Thr114Ile)	EXOSC5	Single nucleotide variant (missense variant)	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	GPathogenic/Likely pathogenic

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