ClinVar for MedGen (Select 375137) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064381	NM_016123.4(IRAK4):c.1063A>G (p.Met355Val)	IRAK4 (M152V +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 67	GUncertain significance
Select item 3018170	NM_016123.4(IRAK4):c.490+20C>T	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 3011074	NM_016123.4(IRAK4):c.906A>G (p.Leu302=)	IRAK4	Single nucleotide variant (synonymous variant)	Immunodeficiency 67	GLikely benign
Select item 3006510	NM_016123.4(IRAK4):c.161+7_161+8del	IRAK4	Deletion (intron variant)	Immunodeficiency 67	GLikely benign
Select item 3002605	NM_016123.4(IRAK4):c.143dup (p.Tyr48Ter)	IRAK4 (Y48*)	Duplication (nonsense +2 more)	Immunodeficiency 67	GPathogenic
Select item 2994505	NM_016123.4(IRAK4):c.899A>G (p.Asn300Ser)	IRAK4 (N300S +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 67	GUncertain significance
Select item 2994397	NM_016123.4(IRAK4):c.807A>G (p.Ser269=)	IRAK4	Single nucleotide variant (synonymous variant)	Immunodeficiency 67	GLikely benign
Select item 2990393	NM_016123.4(IRAK4):c.537C>G (p.Asn179Lys)	IRAK4 (N179K +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 67	GUncertain significance
Select item 2977474	NM_016123.4(IRAK4):c.1126-16T>C	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 2966604	NM_016123.4(IRAK4):c.942-11A>G	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 2916930	NM_016123.4(IRAK4):c.345A>G (p.Lys115=)	IRAK4	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 67	GLikely benign
Select item 2908840	NM_016123.4(IRAK4):c.488C>T (p.Thr163Ile)	IRAK4 (T163I +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 67	GUncertain significance
Select item 2896519	NM_016123.4(IRAK4):c.651+7T>C	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 2853053	NM_016123.4(IRAK4):c.795G>A (p.Met265Ile)	IRAK4 (M141I +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 67	GUncertain significance
Select item 2841170	NM_016123.4(IRAK4):c.1125+12A>G	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 2837459	NM_016123.4(IRAK4):c.1039A>T (p.Arg347Ter)	IRAK4 (R347* +2 more)	Single nucleotide variant (nonsense)	Immunodeficiency 67	GPathogenic
Select item 2834173	NM_016123.4(IRAK4):c.491-14T>G	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 2818504	NM_016123.4(IRAK4):c.629_630del (p.Val210fs)	IRAK4 (V86fs +1 more)	Microsatellite (frameshift variant +1 more)	Immunodeficiency 67	GPathogenic
Select item 2805193	NM_016123.4(IRAK4):c.1302T>C (p.Ser434=)	IRAK4	Single nucleotide variant (synonymous variant)	Immunodeficiency 67	GLikely benign
Select item 2803645	NM_016123.4(IRAK4):c.308-16T>C	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 2803498	NM_016123.4(IRAK4):c.274_281dup (p.Phe94fs)	IRAK4 (F94fs)	Duplication (frameshift variant +2 more)	Immunodeficiency 67	GPathogenic
Select item 2790034	NM_016123.4(IRAK4):c.181C>T (p.Gln61Ter)	IRAK4 (Q61*)	Single nucleotide variant (5 prime UTR variant +2 more)	Immunodeficiency 67	GPathogenic
Select item 2577878	NM_016123.4(IRAK4):c.169G>A (p.Glu57Lys)	IRAK4 (E57K)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 2432865	NM_016123.4(IRAK4):c.149A>T (p.Gln50Leu)	IRAK4 (Q50L)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 2432864	NM_016123.4(IRAK4):c.916CAT[1] (p.His307del)	IRAK4 (H104del +2 more)	Microsatellite (inframe_deletion +1 more)	Immunodeficiency 67	GUncertain significance
Select item 2426270	NC_000012.11:g.(?_44171413)_(44180518_?)del	IRAK4	Deletion	Immunodeficiency 67	GUncertain significance
Select item 2417335	NM_016123.4(IRAK4):c.1340T>A (p.Ile447Asn)	IRAK4 (I244N +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 67	GUncertain significance
Select item 2173005	NM_016123.4(IRAK4):c.1329G>C (p.Lys443Asn)	IRAK4 (K240N +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 67	GUncertain significance
Select item 2155818	NM_016123.4(IRAK4):c.528C>A (p.Val176=)	IRAK4 (S2*)	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 67	GLikely benign
Select item 2151285	NM_016123.4(IRAK4):c.760G>T (p.Asp254Tyr)	IRAK4 (D51Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2149226	NM_016123.4(IRAK4):c.924T>A (p.Ile308=)	IRAK4	Single nucleotide variant (synonymous variant)	Immunodeficiency 67	GLikely benign
Select item 2142780	NM_016123.4(IRAK4):c.76A>G (p.Ile26Val)	IRAK4 (I26V)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 2137318	NM_016123.4(IRAK4):c.1204G>T (p.Glu402Ter)	IRAK4 (E199* +2 more)	Single nucleotide variant (nonsense)	Immunodeficiency 67	GPathogenic
Select item 2137317	NM_016123.4(IRAK4):c.1146del (p.Gly383fs)	IRAK4 (G383fs +2 more)	Deletion (frameshift variant)	Immunodeficiency 67	GPathogenic
Select item 2137316	NM_016123.4(IRAK4):c.225CAC[1] (p.Thr77del)	IRAK4 (T77del)	Microsatellite (inframe_deletion +2 more)	Immunodeficiency 67	GUncertain significance
Select item 2135549	NM_016123.4(IRAK4):c.737T>A (p.Val246Glu)	IRAK4 (V122E +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 67	GUncertain significance
Select item 2123841	NM_016123.4(IRAK4):c.739G>C (p.Glu247Gln)	IRAK4 (E247Q +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 67	GUncertain significance
Select item 2102596	NM_016123.4(IRAK4):c.1149A>G (p.Gly383=)	IRAK4	Single nucleotide variant (synonymous variant)	Immunodeficiency 67	GLikely benign
Select item 2100340	NM_016123.4(IRAK4):c.667A>G (p.Thr223Ala)	IRAK4 (T223A +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 67	GUncertain significance
Select item 2079759	NM_016123.4(IRAK4):c.951C>G (p.Ile317Met)	IRAK4 (I317M +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 67	GUncertain significance
Select item 2078363	NM_016123.4(IRAK4):c.423T>C (p.Leu141=)	IRAK4	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 67	GLikely benign
Select item 2076530	NM_016123.4(IRAK4):c.331A>G (p.Thr111Ala)	IRAK4 (T111A)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 67	GUncertain significance
Select item 2062779	NM_016123.4(IRAK4):c.797C>T (p.Pro266Leu)	IRAK4 (P266L +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 67	GUncertain significance
Select item 2053996	NM_016123.4(IRAK4):c.1317A>C (p.Glu439Asp)	IRAK4 (E439D +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 67	GUncertain significance
Select item 2053986	NM_016123.4(IRAK4):c.307+17_307+18inv	IRAK4	Inversion (intron variant)	Immunodeficiency 67	GLikely benign
Select item 2053205	NM_016123.4(IRAK4):c.652delA (p.Met218fs)	IRAK4 (M15fs +2 more)	Deletion (frameshift variant)	Immunodeficiency 67	GPathogenic
Select item 2040124	NM_016123.4(IRAK4):c.942-14T>G	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 2012543	NM_016123.4(IRAK4):c.1186T>C (p.Leu396=)	IRAK4	Single nucleotide variant (synonymous variant)	Immunodeficiency 67	GLikely benign
Select item 2007875	NM_016123.4(IRAK4):c.1195A>G (p.Ile399Val)	IRAK4 (I196V +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 67	GUncertain significance
Select item 2003906	NM_016123.4(IRAK4):c.1327A>G (p.Lys443Glu)	IRAK4 (K319E +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 67	GUncertain significance
Select item 1987671	NM_016123.4(IRAK4):c.717-11A>G	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 1986017	NM_016123.4(IRAK4):c.44A>G (p.Asn15Ser)	IRAK4 (N15S)	Single nucleotide variant (5 prime UTR variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 1981577	NM_016123.4(IRAK4):c.885A>C (p.Ala295=)	IRAK4	Single nucleotide variant (synonymous variant)	Immunodeficiency 67	GLikely benign
Select item 1978502	NM_016123.4(IRAK4):c.343A>G (p.Lys115Glu)	IRAK4 (K115E)	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency 67	GUncertain significance
Select item 1957687	NM_016123.4(IRAK4):c.12C>G (p.Pro4=)	IRAK4	Single nucleotide variant (5 prime UTR variant +2 more)	Immunodeficiency 67	GLikely benign
Select item 1957642	NM_016123.4(IRAK4):c.447C>G (p.Asp149Glu)	IRAK4 (D149E +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 67 +1 more	GUncertain significance
Select item 1953395	NM_016123.4(IRAK4):c.232A>G (p.Asn78Asp)	IRAK4 (N78D)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 1950606	NM_016123.4(IRAK4):c.307+8G>A	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 1934815	NM_016123.4(IRAK4):c.949A>G (p.Ile317Val)	IRAK4 (I114V +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 67	GUncertain significance
Select item 1920931	NM_016123.4(IRAK4):c.316C>T (p.Pro106Ser)	IRAK4 (P106S)	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency 67	GUncertain significance
Select item 1900341	NM_016123.4(IRAK4):c.1347+14A>G	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 1803983	NM_016123.4(IRAK4):c.333del (p.Leu112fs)	IRAK4 (L112fs)	Deletion (frameshift variant +1 more)	Immunodeficiency 67	GPathogenic/Likely pathogenic
Select item 1670924	NM_016123.4(IRAK4):c.1189-14C>T	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 1670422	NM_016123.4(IRAK4):c.941+19_941+20del	IRAK4	Deletion (intron variant)	Immunodeficiency 67	GLikely benign
Select item 1670318	NM_016123.4(IRAK4):c.900T>C (p.Asn300=)	IRAK4	Single nucleotide variant (synonymous variant)	Immunodeficiency 67	GLikely benign
Select item 1662995	NM_016123.4(IRAK4):c.1347+15T>C	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 1660053	NM_016123.4(IRAK4):c.651+15C>T	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 1656049	NM_016123.4(IRAK4):c.652-15A>G	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 1640075	NM_016123.4(IRAK4):c.612C>T (p.Tyr204=)	IRAK4	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 67	GLikely benign
Select item 1627265	NM_016123.4(IRAK4):c.822C>T (p.Leu274=)	IRAK4	Single nucleotide variant (synonymous variant)	Immunodeficiency 67	GLikely benign
Select item 1615200	NM_016123.4(IRAK4):c.99G>A (p.Lys33=)	IRAK4	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 67	GLikely benign
Select item 1614012	NM_016123.4(IRAK4):c.303C>G (p.Leu101=)	IRAK4	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 67	GLikely benign
Select item 1607427	NM_016123.4(IRAK4):c.882T>A (p.Gly294=)	IRAK4	Single nucleotide variant (synonymous variant)	Immunodeficiency 67	GLikely benign
Select item 1602229	NM_016123.4(IRAK4):c.942-17C>T	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 1601214	NM_016123.4(IRAK4):c.1126-18T>A	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GBenign
Select item 1599621	NM_016123.4(IRAK4):c.490+16A>C	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GBenign
Select item 1589971	NM_016123.4(IRAK4):c.308-19A>G	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 1586426	NM_016123.4(IRAK4):c.1125+9C>T	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 1582550	NM_016123.4(IRAK4):c.1374A>G (p.Thr458=)	IRAK4	Single nucleotide variant (synonymous variant)	Immunodeficiency 67	GLikely benign
Select item 1580655	NM_016123.4(IRAK4):c.825T>C (p.Ser275=)	IRAK4	Single nucleotide variant (synonymous variant)	Immunodeficiency 67	GLikely benign
Select item 1574985	NM_016123.4(IRAK4):c.308-12T>C	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 1562128	NM_016123.4(IRAK4):c.741A>G (p.Glu247=)	IRAK4	Single nucleotide variant (synonymous variant)	Immunodeficiency 67	GLikely benign
Select item 1553419	NM_016123.4(IRAK4):c.1338C>T (p.Asp446=)	IRAK4	Single nucleotide variant (synonymous variant)	Immunodeficiency 67	GLikely benign
Select item 1550629	NM_016123.4(IRAK4):c.669T>C (p.Thr223=)	IRAK4	Single nucleotide variant (synonymous variant)	Immunodeficiency 67	GLikely benign
Select item 1544622	NM_016123.4(IRAK4):c.490+13T>C	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 1543869	NM_016123.4(IRAK4):c.219C>T (p.Asp73=)	IRAK4	Single nucleotide variant (intron variant +2 more)	Immunodeficiency 67	GLikely benign
Select item 1543147	NM_016123.4(IRAK4):c.561T>C (p.Val187=)	IRAK4 (L13S)	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 67	GLikely benign
Select item 1542332	NM_016123.4(IRAK4):c.676C>T (p.Leu226=)	IRAK4	Single nucleotide variant (synonymous variant)	Immunodeficiency 67	GLikely benign
Select item 1539717	NM_016123.4(IRAK4):c.161+19T>C	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 1528107	NM_016123.4(IRAK4):c.1126-11dup	IRAK4	Duplication (intron variant)	Immunodeficiency 67	GBenign
Select item 1522443	NM_016123.4(IRAK4):c.889A>G (p.Asn297Asp)	IRAK4 (N297D +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 67	GUncertain significance
Select item 1498935	NM_016123.4(IRAK4):c.406A>G (p.Thr136Ala)	IRAK4 (T136A +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 67	GUncertain significance
Select item 1496816	NM_016123.4(IRAK4):c.1000C>T (p.Arg334Trp)	IRAK4 (R131W +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 67	GUncertain significance
Select item 1485932	NM_016123.4(IRAK4):c.427C>A (p.Gln143Lys)	IRAK4 (Q143K +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 67	GUncertain significance
Select item 1480602	NM_016123.4(IRAK4):c.1188G>A (p.Leu396=)	IRAK4	Single nucleotide variant (synonymous variant)	Immunodeficiency 67	GUncertain significance
Select item 1472124	NM_016123.4(IRAK4):c.266T>C (p.Ile89Thr)	IRAK4 (I89T)	Single nucleotide variant (5 prime UTR variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 1467470	NM_016123.4(IRAK4):c.832G>A (p.Asp278Asn)	IRAK4 (D154N +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 67	GUncertain significance
Select item 1459926	NC_000012.11:g.(?_44176090)_(44176313_?)del	IRAK4	Deletion	Immunodeficiency 67	GPathogenic
Select item 1457405	NM_016123.4(IRAK4):c.1290C>G (p.Tyr430Ter)	IRAK4 (Y227* +2 more)	Single nucleotide variant (nonsense)	Immunodeficiency 67	GPathogenic
Select item 1456107	NM_016123.4(IRAK4):c.1135G>T (p.Glu379Ter)	IRAK4 (E255* +2 more)	Single nucleotide variant (nonsense)	Immunodeficiency 67	GPathogenic

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