ClinVar for PMC (Select 7615863) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2714435	NM_015189.3(EXOC6B):c.1411C>T (p.Gln471Ter)	EXOC6B (Q471* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2125741	NM_015189.3(EXOC6B):c.2309+1169G>T	EXOC6B	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 1500492	NM_015189.3(EXOC6B):c.670-2A>G	EXOC6B	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1487322	NM_015189.3(EXOC6B):c.946del (p.Arg316fs)	EXOC6B (R316fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1378529	NM_015189.3(EXOC6B):c.1047-2A>C	EXOC6B	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic

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