C1836308[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 300869	NM_012330.4(KAT6B):c.1927A>T (p.Met643Leu)	KAT6B (M643L)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome +6 more	GUncertain significance
Select item 523251	GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787)	GABRA5, GABRB3 +22 more	Copy number gain	Autism +7 more	GPathogenic
Select item 523514	NM_015559.3(SETBP1):c.4160C>T (p.Thr1387Met)	SETBP1 (T1387M)	Single nucleotide variant (missense variant)	Macrocephaly +6 more	GConflicting classifications of pathogenicity

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