ClinVar for MedGen (Select 86860) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1077119	NM_139058.3(ARX):c.994C>T (p.Arg332Cys)	ARX (R332C)	Single nucleotide variant (missense variant)	Corpus callosum, agenesis of +2 more	GLikely pathogenic
Select item 983221	NM_022474.4(PALS1):c.1289A>G (p.Glu430Gly)	GPHN, PALS1 (E396G +1 more)	Single nucleotide variant (missense variant)	Cerebral palsy +4 more	GPathogenic
Select item 267865	46;XY;t(2;11)(q31;q13.5)pat		Translocation	Attention deficit hyperactivity disorder +6 more	GUncertain significance

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