"GeneDx"[submitter] AND "EXOC6B"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2580084	NM_015189.3(EXOC6B):c.2365C>T (p.Arg789Ter)	EXOC6B (R680* +4 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 521377	NM_015189.3(EXOC6B):c.1801-2A>G	EXOC6B	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1246374	NM_015189.3(EXOC6B):c.1671T>C (p.Val557=)	EXOC6B	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 421388	NM_015189.3(EXOC6B):c.1299T>G (p.Tyr433Ter)	EXOC6B (Y433* +1 more)	Single nucleotide variant (nonsense +1 more)	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 523843	NM_015189.3(EXOC6B):c.859C>T (p.Gln287Ter)	EXOC6B (Q287* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2574186	NM_015189.3(EXOC6B):c.611A>G (p.Asp204Gly)	EXOC6B (D204G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2037505	NM_015189.3(EXOC6B):c.533G>A (p.Arg178Gln)	EXOC6B (R65Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663194	NM_015189.3(EXOC6B):c.370C>T (p.Gln124Ter)	EXOC6B (Q11* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2428893	NM_015189.3(EXOC6B):c.110del (p.Leu37fs)	EXOC6B (L37fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 3361304	NM_015189.3(EXOC6B):c.2T>C (p.Met1Thr)	EXOC6B (M1T)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance