C4693389[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444112	NM_004859.4(CLTC):c.854A>G (p.Tyr285Cys)	CLTC (Y285C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56	GUncertain significance
Select item 1705596	NM_004859.4(CLTC):c.2562-1G>C	CLTC	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 1805692	NM_004859.4(CLTC):c.2590G>A (p.Ala864Thr)	CLTC (A864T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56	GConflicting classifications of pathogenicity
Select item 2572399	NM_004859.4(CLTC):c.3647TGT[1] (p.Leu1217del)	CLTC (L1217del +1 more)	Microsatellite (inframe_deletion)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 2965786	NM_004859.4(CLTC):c.4210T>C (p.Tyr1404His)	CLTC, LOC126862609 (Y1404H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56 +1 more	GConflicting classifications of pathogenicity
Select item 1320245	NM_004859.4(CLTC):c.4722C>G (p.Tyr1574Ter)	CLTC (Y1574* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 56	GLikely pathogenic

ClinVar