C0856975[trait identifier] AND "Center for Personalized Medicine, Chil - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 598991	NM_004366.6(CLCN2):c.775G>A (p.Val259Ile)	CLCN2 (V259I +1 more)	Single nucleotide variant (missense variant)	Attention deficit hyperactivity disorder +8 more	GUncertain significance
Select item 598966	NM_007327.4(GRIN1):c.2531G>T (p.Arg844Leu)	GRIN1 (R844L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8 +6 more	GPathogenic/Likely pathogenic
Select item 2538	NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +24 more	GPathogenic/Likely pathogenic
Select item 598990	NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)	CACNA1A	Deletion (3 prime UTR variant +1 more)	Specific learning disability +13 more	GConflicting classifications of pathogenicity
Select item 217458	NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His)	PPP2R1A (R258H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 598967	NM_001379451.1(BCORL1):c.532A>G (p.Thr178Ala)	BCORL1 (T178A)	Single nucleotide variant (missense variant)	Stereotypic movement disorder +22 more	GUncertain significance

ClinVar