ClinVar for MedGen (Select 1851770) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663871	NM_005717.4(ARPC5):c.11_12insTG (p.Thr5fs)	ARPC5, LOC129932089 (T5fs)	Insertion (frameshift variant)	Immunodeficiency 113 with autoimmunity and autoinflammation	GPathogenic
Select item 2663870	NM_005717.4(ARPC5):c.23C>A (p.Ser8Ter)	ARPC5, LOC129932089	Single nucleotide variant (nonsense)	Immunodeficiency 113 with autoimmunity and autoinflammation	GPathogenic