"PreventionGenetics, part of Exact Sciences"[submitter] AND "IRF8"[gen - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1156289	NM_002163.4(IRF8):c.6T>C (p.Cys2=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +2 more	GLikely benign
Select item 723205	NM_002163.4(IRF8):c.126C>T (p.His42=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +2 more	GLikely benign
Select item 475389	NM_002163.4(IRF8):c.300A>G (p.Gln100=)	IRF8, LOC130059663	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +2 more	GBenign
Select item 725422	NM_002163.4(IRF8):c.415G>A (p.Gly139Ser)	IRF8 (G149S +1 more)	Single nucleotide variant (missense variant +1 more)	IRF8-related disorder +2 more	GLikely benign
Select item 424036	NM_002163.4(IRF8):c.419G>A (p.Arg140His)	IRF8 (R140H +1 more)	Single nucleotide variant (missense variant +1 more)	IRF8-related disorder +3 more	GUncertain significance
Select item 1523127	NM_002163.4(IRF8):c.601+4C>T	IRF8	Single nucleotide variant (intron variant)	IRF8-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 542149	NM_002163.4(IRF8):c.894C>T (p.Phe298=)	IRF8	Single nucleotide variant (synonymous variant)	Immunodeficiency 32B +3 more	GBenign/Likely benign
Select item 2929176	NM_002163.4(IRF8):c.966C>T (p.Phe322=)	IRF8	Single nucleotide variant (synonymous variant)	IRF8-related disorder +2 more	GLikely benign
Select item 1144750	NM_002163.4(IRF8):c.969C>T (p.Asp323=)	IRF8	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +2 more	GLikely benign
Select item 493195	NM_002163.4(IRF8):c.982T>G (p.Phe328Val)	IRF8 (F328V +2 more)	Single nucleotide variant (missense variant)	IRF8-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 757443	NM_002163.4(IRF8):c.988+10G>A	IRF8	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 542155	NM_002163.4(IRF8):c.1161C>T (p.Ala387=)	IRF8	Single nucleotide variant (synonymous variant)	Immunodeficiency 32B +2 more	GLikely benign