"3billion"[submitter] AND "TRRAP"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687176	NM_001375524.1(TRRAP):c.1813-52T>A	TRRAP	Single nucleotide variant (intron variant)	Developmental delay with or without dysmorphic facies and autism	GLikely pathogenic
Select item 2444178	NM_001375524.1(TRRAP):c.2458C>A (p.Leu820Ile)	TRRAP (L820I)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 1705617	NM_001375524.1(TRRAP):c.2807A>G (p.Gln936Arg)	TRRAP (Q936R)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 1320128	NM_001375524.1(TRRAP):c.3104G>A (p.Arg1035Gln)	TRRAP (R1035Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2444292	NM_001375524.1(TRRAP):c.3331G>A (p.Gly1111Arg)	TRRAP (G1111R)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 1333498	NM_001375524.1(TRRAP):c.8870A>G (p.Asn2957Ser)	TRRAP (N2932S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar