ClinVar for MedGen (Select 1823965) - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663923	NM_138348.6(OTULIN):c.443G>A (p.Trp148Ter)	OTULIN (W148*)	Single nucleotide variant (nonsense)	Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection	GLikely pathogenic
Select item 1700611	NM_138348.6(OTULIN):c.802del (p.Asp268fs)	OTULIN (D268fs)	Deletion (frameshift variant)	Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection	Grisk factor
Select item 1700610	NM_138348.6(OTULIN):c.283G>T (p.Glu95Ter)	OTULIN	Single nucleotide variant (nonsense)	Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection	Grisk factor
Select item 1700609	NM_138348.6(OTULIN):c.737A>T (p.Asp246Val)	OTULIN	Single nucleotide variant (missense variant)	Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection	Grisk factor
Select item 1493560	NM_138348.6(OTULIN):c.1052G>A (p.Ser351Asn)	OTULIN (S351N)	Single nucleotide variant (missense variant)	Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection +2 more	GUncertain significance
Select item 254126	NM_138348.6(OTULIN):c.731A>G (p.Tyr244Cys)	OTULIN (Y244C)	Single nucleotide variant (missense variant)	Infantile-onset periodic fever-panniculitis-dermatosis syndrome +1 more	GPathogenic; risk factor
Select item 254125	NM_138348.6(OTULIN):c.517del (p.Gly174fs)	OTULIN (G174fs)	Deletion (frameshift variant)	Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection +1 more	GPathogenic; risk factor