ClinVar for MedGen (Select 355340) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1810206	NM_002128.7(HMGB1):c.551_554del (p.Lys184fs)	HMGB1 (K184fs)	Deletion (frameshift variant +1 more)	Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia	GPathogenic
Select item 1810205	NM_002128.7(HMGB1):c.556_559del (p.Glu186fs)	HMGB1 (E186fs)	Microsatellite (frameshift variant +1 more)	Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia	GPathogenic