ClinVar for MedGen (Select 1684701) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1301607	NM_001278495.2(NUTM2B):c.2502_2503del (p.Tyr835fs)	NUTM2B, NUTM2B-AS1 (Y835fs)	Deletion (frameshift variant)	Oculopharyngeal myopathy with leukoencephalopathy 1	GBenign
Select item 1301606	NM_001278495.2(NUTM2B):c.2490_2499del (p.Glu831fs)	NUTM2B, NUTM2B-AS1 (E831fs)	Deletion (frameshift variant)	Oculopharyngeal myopathy with leukoencephalopathy 1	GBenign
Select item 692219	NR_120611.1:n.192CCG[(35_?)]	NUTM2B-AS1	Microsatellite	Oculopharyngeal myopathy with leukoencephalopathy 1	GPathogenic

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