"Ambry Genetics"[submitter] AND "TRAPPC6B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2404453	NM_001079537.2(TRAPPC6B):c.436A>G (p.Met146Val)	TRAPPC6B (M118V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539014	NM_001079537.2(TRAPPC6B):c.317C>G (p.Ser106Cys)	TRAPPC6B (S106C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391939	NM_001079537.2(TRAPPC6B):c.293A>G (p.Lys98Arg)	TRAPPC6B (K98R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2400128	NM_001079537.2(TRAPPC6B):c.271A>G (p.Ile91Val)	TRAPPC6B (I91V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352322	NM_001079537.2(TRAPPC6B):c.223A>G (p.Thr75Ala)	TRAPPC6B (T75A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 989321	NM_001079537.2(TRAPPC6B):c.91C>T (p.Arg31Ter)	TRAPPC6B (R31*)	Single nucleotide variant (nonsense)	TRAPPC6B-related neurodevelopmental disorder +2 more	GLikely pathogenic

ClinVar