ClinVar for MedGen (Select 814919) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954347	NM_002163.4(IRF8):c.519C>G (p.Leu173=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 2954217	NM_002163.4(IRF8):c.966C>G (p.Phe322Leu)	IRF8 (F322L +2 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2954183	NM_002163.4(IRF8):c.1033A>G (p.Arg345Gly)	IRF8 (R141G +2 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2953757	NM_002163.4(IRF8):c.682C>A (p.Arg228Ser)	IRF8 (R238S +2 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2952921	NM_002163.4(IRF8):c.1176G>T (p.Gln392His)	IRF8 (Q402H +2 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2951323	NM_002163.4(IRF8):c.554-14T>C	IRF8	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 2950815	NM_002163.4(IRF8):c.553+16C>G	IRF8	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
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 2949943	NM_002163.4(IRF8):c.293G>A (p.Arg98Gln)	IRF8 (R98Q +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2949482	NM_002163.4(IRF8):c.1037T>C (p.Val346Ala)	IRF8 (V346A +2 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2948196	NM_002163.4(IRF8):c.623G>C (p.Ser208Thr)	IRF8 (S218T +2 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2948135	NM_002163.4(IRF8):c.668G>T (p.Cys223Phe)	IRF8 (C223F +2 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2945852	NM_002163.4(IRF8):c.627C>T (p.Phe209=)	IRF8	Single nucleotide variant (synonymous variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2945689	NM_002163.4(IRF8):c.636G>T (p.Gly212=)	IRF8	Single nucleotide variant (synonymous variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2944705	NM_002163.4(IRF8):c.98A>G (p.Lys33Arg)	IRF8 (K43R +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2944304	NM_002163.4(IRF8):c.582C>T (p.Thr194=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 2944233	NM_002163.4(IRF8):c.602-11C>T	IRF8, MIR6774	Single nucleotide variant (non-coding transcript variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 2943682	NM_002163.4(IRF8):c.642G>A (p.Lys214=)	IRF8	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 2943120	NM_002163.4(IRF8):c.560C>T (p.Pro187Leu)	IRF8 (P197L +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2942971	NM_002163.4(IRF8):c.988+12C>A	IRF8	Single nucleotide variant (intron variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2942517	NM_002163.4(IRF8):c.1142C>G (p.Ala381Gly)	IRF8 (A177G +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2941713	NM_002163.4(IRF8):c.1200C>T (p.Asp400=)	IRF8	Single nucleotide variant (synonymous variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2941448	NM_002163.4(IRF8):c.552A>G (p.Thr184=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
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 2941133	NM_002163.4(IRF8):c.893T>C (p.Phe298Ser)	IRF8 (F298S +2 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2940930	NM_002163.4(IRF8):c.853C>G (p.Gln285Glu)	IRF8 (Q295E +2 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2940783	NM_002163.4(IRF8):c.603A>G (p.Ala201=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 2939651	NM_002163.4(IRF8):c.748G>C (p.Val250Leu)	IRF8 (V46L +2 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2939433	NM_002163.4(IRF8):c.1274C>T (p.Thr425Ile)	IRF8 (T221I +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2939392	NM_002163.4(IRF8):c.1086C>A (p.Ser362=)	IRF8	Single nucleotide variant (synonymous variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2939342	NM_002163.4(IRF8):c.1272C>T (p.Ile424=)	IRF8	Single nucleotide variant (synonymous variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2938812	NM_002163.4(IRF8):c.359-16G>A	IRF8	Single nucleotide variant (intron variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2938683	NM_002163.4(IRF8):c.498G>T (p.Pro166=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2937927	NM_002163.4(IRF8):c.1193dup (p.Pro399fs)	IRF8 (P195fs +2 more)	Duplication (frameshift variant)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2937088	NM_002163.4(IRF8):c.576C>T (p.Tyr192=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 2936842	NM_002163.4(IRF8):c.1082G>C (p.Arg361Pro)	IRF8 (R157P +2 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2936495	NM_002163.4(IRF8):c.716C>G (p.Thr239Ser)	IRF8 (T35S +2 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2936055	NM_002163.4(IRF8):c.1116G>C (p.Leu372=)	IRF8	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 2934722	NM_002163.4(IRF8):c.435G>A (p.Glu145=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2934699	NM_002163.4(IRF8):c.461A>T (p.Asp154Val)	IRF8 (D154V +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2934420	NM_002163.4(IRF8):c.1104+12C>T	IRF8	Single nucleotide variant (intron variant)	Immunodeficiency 32B +1 more	GLikely benign
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 2933762	NM_002163.4(IRF8):c.1105-6A>T	IRF8	Single nucleotide variant (intron variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2933576	NM_002163.4(IRF8):c.570G>C (p.Thr190=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 2933165	NM_002163.4(IRF8):c.46G>A (p.Glu16Lys)	IRF8 (E16K +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2932955	NM_002163.4(IRF8):c.174+18C>T	IRF8	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 2932849	NM_002163.4(IRF8):c.699G>T (p.Gln233His)	IRF8 (Q233H +2 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2932645	NM_002163.4(IRF8):c.1215G>A (p.Met405Ile)	IRF8 (M405I +2 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2932272	NM_002163.4(IRF8):c.1118A>G (p.Tyr373Cys)	IRF8 (Y373C +2 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2932090	NM_002163.4(IRF8):c.56A>G (p.Asp19Gly)	IRF8 (D19G +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2931525	NM_002163.4(IRF8):c.175-14G>A	LOC130059662, IRF8	Single nucleotide variant (intron variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2931072	NM_002163.4(IRF8):c.602-20C>T	MIR6774, IRF8	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2930627	NM_002163.4(IRF8):c.59G>A (p.Ser20Asn)	IRF8 (S20N +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2930439	NM_002163.4(IRF8):c.907G>A (p.Ala303Thr)	IRF8 (A313T +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 32B +1 more	GUncertain significance
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 2929024	NM_002163.4(IRF8):c.963C>G (p.Val321=)	IRF8	Single nucleotide variant (synonymous variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2928931	NM_002163.4(IRF8):c.988+12C>T	IRF8	Single nucleotide variant (intron variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2928865	NM_002163.4(IRF8):c.602-13C>G	IRF8, MIR6774	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2928752	NM_002163.4(IRF8):c.448-12C>G	IRF8	Single nucleotide variant (intron variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2928459	NM_002163.4(IRF8):c.716C>T (p.Thr239Ile)	IRF8 (T35I +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2928183	NM_002163.4(IRF8):c.910G>A (p.Val304Met)	IRF8 (V100M +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2927779	NM_002163.4(IRF8):c.537G>T (p.Ala179=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2927482	NM_002163.4(IRF8):c.1105-4C>G	IRF8	Single nucleotide variant (intron variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2927142	NM_002163.4(IRF8):c.564G>A (p.Leu188=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2926657	NM_002163.4(IRF8):c.972C>T (p.Thr324=)	IRF8	Single nucleotide variant (synonymous variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2926554	NM_002163.4(IRF8):c.448-3C>T	IRF8	Single nucleotide variant (intron variant)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2924983	NM_002163.4(IRF8):c.873G>T (p.Arg291=)	IRF8	Single nucleotide variant (synonymous variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2924774	NM_002163.4(IRF8):c.554-9C>T	IRF8	Single nucleotide variant (intron variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2924710	NM_002163.4(IRF8):c.903C>A (p.Gly301=)	IRF8	Single nucleotide variant (synonymous variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2924061	NM_002163.4(IRF8):c.510G>C (p.Arg170=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2923299	NM_002163.4(IRF8):c.900C>T (p.Ser300=)	IRF8	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 2923162	NM_002163.4(IRF8):c.989-8C>T	IRF8	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 2922009	NM_002163.4(IRF8):c.1028A>T (p.Asp343Val)	IRF8 (D353V +2 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2546208	NM_002163.4(IRF8):c.1193C>T (p.Pro398Leu)	IRF8 (P398L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2424361	NC_000016.9:g.(?_85936622)_(86602447_?)dup	FENDRR, FOXC2 +4 more	Duplication	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2248155	NM_002163.4(IRF8):c.1235C>T (p.Ser412Leu)	IRF8 (S208L +2 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +2 more	GUncertain significance
Select item 2194708	NM_002163.4(IRF8):c.601+5G>A	IRF8	Single nucleotide variant (intron variant)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2194544	NM_002163.4(IRF8):c.731C>T (p.Pro244Leu)	IRF8 (P244L +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2193994	NM_002163.4(IRF8):c.1116G>A (p.Leu372=)	IRF8	Single nucleotide variant (synonymous variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2193704	NM_002163.4(IRF8):c.569C>G (p.Thr190Arg)	IRF8 (T190R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2193428	NM_002163.4(IRF8):c.1213A>C (p.Met405Leu)	IRF8 (M201L +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2192826	NM_002163.4(IRF8):c.102C>G (p.Ser34Arg)	IRF8 (S34R +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2187953	NM_002163.4(IRF8):c.1227T>C (p.Ile409=)	IRF8	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 2187320	NM_002163.4(IRF8):c.906C>T (p.Asn302=)	IRF8	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 2185265	NM_002163.4(IRF8):c.459C>T (p.Asp153=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2182874	NM_002163.4(IRF8):c.909C>T (p.Ala303=)	IRF8	Single nucleotide variant (synonymous variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2175386	NM_002163.4(IRF8):c.288G>A (p.Thr96=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2165470	NM_002163.4(IRF8):c.498G>A (p.Pro166=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 2160209	NM_002163.4(IRF8):c.377C>G (p.Thr126Ser)	IRF8 (T136S +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 2158850	NM_002163.4(IRF8):c.553+18A>G	IRF8	Single nucleotide variant (intron variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2151724	NM_002163.4(IRF8):c.870G>A (p.Lys290=)	IRF8	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 2151249	NM_002163.4(IRF8):c.376A>G (p.Thr126Ala)	IRF8 (T136A +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 2132810	NM_002163.4(IRF8):c.709C>A (p.Pro237Thr)	IRF8 (P237T +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 32B +1 more	GUncertain significance
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 2125992	NM_002163.4(IRF8):c.653A>G (p.Gln218Arg)	IRF8 (Q14R +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2117397	NM_002163.4(IRF8):c.130G>A (p.Gly44Ser)	IRF8 (G44S +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2106409	NM_002163.4(IRF8):c.1020G>T (p.Arg340=)	IRF8	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 2103841	NM_002163.4(IRF8):c.16GGT[1] (p.Gly7del)	IRF8 (G17del +1 more)	Microsatellite (inframe_deletion +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2096759	NM_002163.4(IRF8):c.419G>T (p.Arg140Leu)	IRF8 (R140L +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2096001	NM_002163.4(IRF8):c.175-3C>T	IRF8, LOC130059662	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance

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