C3553450[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 523244	GRCh37/hg19 1q21.1-21.2(chr1:146618988-147824207)	ACP6, BCL9 +6 more	Copy number gain	Optic atrophy +4 more	GPathogenic
Select item 523243	GRCh37/hg19 9q31.3(chr9:111624558-111812725)	ABITRAM, ACTL7A +4 more	Copy number gain	Profound global developmental delay +4 more	GUncertain significance
Select item 2538	NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +24 more	GPathogenic/Likely pathogenic

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