ClinVar for OMIM (Select 619573) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341305	NM_022047.4(DEF6):c.476_485del (p.Leu159fs)	DEF6 (L159fs)	Deletion (frameshift variant)	Immunodeficiency 87 and autoimmunity	GLikely pathogenic
Select item 2441680	NM_022047.4(DEF6):c.529G>A (p.Gly177Arg)	DEF6 (G177R)	Single nucleotide variant (missense variant)	Immunodeficiency 87 and autoimmunity	GUncertain significance
Select item 1405619	NM_022047.4(DEF6):c.1850C>T (p.Ala617Val)	DEF6 (A617V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1300256	NM_022047.4(DEF6):c.940C>T (p.Gln314Ter)	DEF6	Single nucleotide variant (nonsense)	Immunodeficiency 87 and autoimmunity	GPathogenic
Select item 1300255	NM_022047.4(DEF6):c.628T>G (p.Tyr210Asp)	DEF6	Single nucleotide variant (missense variant)	Immunodeficiency 87 and autoimmunity	GPathogenic
Select item 1300254	NM_022047.4(DEF6):c.991G>A (p.Glu331Lys)	DEF6	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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