ClinVar for MedGen (Select 120579) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1342911	NM_001252102.2(KIF21B):c.433G>C (p.Ala145Pro)	KIF21B (A145P)	Single nucleotide variant (missense variant)	Macrogyria +3 more	GUncertain significance
Select item 544681	NM_201525.4(ADGRG1):c.1583dup (p.Ala529fs)	ADGRG1 (A354fs +7 more)	Duplication (frameshift variant)	Macrogyria +7 more	GPathogenic
Select item 523440	NM_001376.5(DYNC1H1):c.9930G>A (p.Met3310Ile)	DYNC1H1 (M3310I)	Single nucleotide variant (missense variant)	Macrogyria +4 more	GUncertain significance

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