ClinVar for MedGen (Select 182975) - 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 268037	46;XY;t(2;14)(p22;q24.3)dn		Translocation	Hypotonia +11 more	GLikely pathogenic
Select item 183327	NM_001999.4(FBN2):c.1064G>A (p.Gly355Asp)	FBN2 (G355D)	Single nucleotide variant (missense variant)	Neonatal death +2 more	GLikely pathogenic

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