"Invitae"[submitter] AND "LOC130059663"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 475389	NM_002163.4(IRF8):c.300A>G (p.Gln100=)	IRF8, LOC130059663	Single nucleotide variant (synonymous variant +1 more)	IRF8-related condition +2 more	GBenign
Select item 1146059	NM_002163.4(IRF8):c.312C>T (p.Ser104=)	IRF8, LOC130059663	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 2941215	NM_002163.4(IRF8):c.315G>A (p.Glu105=)	IRF8, LOC130059663	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 965521	NM_002163.4(IRF8):c.332G>A (p.Arg111Gln)	IRF8, LOC130059663 (R111Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 1719985	NM_002163.4(IRF8):c.343G>C (p.Glu115Gln)	IRF8, LOC130059663 (E115Q +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2950814	NM_002163.4(IRF8):c.358+4A>C	IRF8, LOC130059663	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2934249	NM_002163.4(IRF8):c.358+4A>T	IRF8, LOC130059663	Single nucleotide variant (intron variant)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2029084	NM_002163.4(IRF8):c.358+7A>T	IRF8, LOC130059663	Single nucleotide variant (intron variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2049283	NM_002163.4(IRF8):c.358+9C>T	IRF8, LOC130059663	Single nucleotide variant (intron variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2126935	NM_002163.4(IRF8):c.358+16G>C	IRF8, LOC130059663	Single nucleotide variant (intron variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 1592061	NM_002163.4(IRF8):c.358+18G>A	IRF8, LOC130059663	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign