ClinVar for MedGen (Select 1802872) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431701	NM_002184.4(IL6ST):c.76G>A (p.Asp26Asn)	IL6ST (D26N)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 94 with autoinflammation and dysmorphic facies	GUncertain significance
Select item 1342185	NM_002184.4(IL6ST):c.560_571del (p.Ser187_Tyr190del)	IL6ST	Deletion (inframe_deletion +2 more)	Immunodeficiency 94 with autoinflammation and dysmorphic facies	GPathogenic