51135[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 149635	GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1	ADAMTS20, ANO6 +113 more	Copy number loss	See cases	GPathogenic
Select item 155670	GRCh38/hg38 12q12(chr12:43477600-44820113)x4	ADAMTS20, IRAK4 +18 more	Copy number gain	See cases	GLikely benign
Select item 146347	GRCh38/hg38 12q12(chr12:43514638-44793576)x3	ADAMTS20, IRAK4 +18 more	Copy number gain	See cases	GUncertain significance
Select item 881398	NM_016123.3(IRAK4):c.-89G>T	IRAK4, LOC130007712	Single nucleotide variant	Immunodeficiency 67	GUncertain significance
Select item 308721	NM_016123.4(IRAK4):c.-75C>T	IRAK4, LOC130007712	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency 67	GUncertain significance
Select item 308722	NM_016123.4(IRAK4):c.-66G>A	IRAK4, LOC130007712	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency 67	GUncertain significance
Select item 881399	NM_016123.4(IRAK4):c.-65C>A	IRAK4, LOC130007712	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency 67	GUncertain significance
Select item 308723	NM_016123.4(IRAK4):c.-54G>A	IRAK4, LOC130007712	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency 67	GUncertain significance
Select item 308724	NM_016123.4(IRAK4):c.-16C>G	IRAK4	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency 67	GUncertain significance
Select item 881400	NM_016123.4(IRAK4):c.-5A>G	IRAK4	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency 67	GUncertain significance
Select item 1033805	NM_016123.4(IRAK4):c.6C>G (p.Asn2Lys)	IRAK4 (N2K)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 1373791	NM_016123.4(IRAK4):c.7A>C (p.Lys3Gln)	IRAK4 (K3Q)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 1957687	NM_016123.4(IRAK4):c.12C>G (p.Pro4=)	IRAK4	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 67	GLikely benign
Select item 763737	NM_016123.4(IRAK4):c.13A>G (p.Ile5Val)	IRAK4 (I5V)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 67	GConflicting classifications of pathogenicity
Select item 960941	NM_016123.4(IRAK4):c.32T>G (p.Val11Gly)	IRAK4 (V11G)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 30609	NM_016123.4(IRAK4):c.34C>T (p.Arg12Cys)	IRAK4 (R12C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 638849	NM_016123.4(IRAK4):c.35G>A (p.Arg12His)	IRAK4 (R12H)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 1130069	NM_016123.4(IRAK4):c.36C>T (p.Arg12=)	IRAK4	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 67	GLikely benign
Select item 960942	NM_016123.4(IRAK4):c.38G>A (p.Cys13Tyr)	IRAK4 (C13Y)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 1986017	NM_016123.4(IRAK4):c.44A>G (p.Asn15Ser)	IRAK4 (N15S)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 948802	NM_016123.4(IRAK4):c.58A>T (p.Arg20Trp)	IRAK4 (R20W)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 3110828	NM_016123.4(IRAK4):c.61A>G (p.Lys21Glu)	IRAK4 (K21E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 1043691	NM_016123.4(IRAK4):c.77T>C (p.Ile26Thr)	IRAK4 (I26T)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 2498181	NM_016123.4(IRAK4):c.86A>C (p.Gln29Pro)	IRAK4 (Q29P)	Single nucleotide variant (missense variant +2 more)	Congenital dyserythropoietic anemia	GUncertain significance
Select item 533523	NM_016123.4(IRAK4):c.88G>T (p.Glu30Ter)	IRAK4 (E30*)	Single nucleotide variant (nonsense +2 more)	Immunodeficiency 67	GPathogenic
Select item 1379436	NM_016123.4(IRAK4):c.91G>A (p.Gly31Arg)	IRAK4 (G31R)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 836870	NM_016123.4(IRAK4):c.93A>T (p.Gly31=)	IRAK4	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 67	GUncertain significance
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 881838	NM_016123.4(IRAK4):c.103T>A (p.Leu35Ile)	IRAK4 (L35I)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 2323820	NM_016123.4(IRAK4):c.112G>A (p.Ala38Thr)	IRAK4 (A38T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 639567	NM_016123.4(IRAK4):c.113C>G (p.Ala38Gly)	IRAK4 (A38G)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 929846	NM_016123.4(IRAK4):c.123dup (p.Pro42fs)	IRAK4 (P42fs)	Duplication (frameshift variant +2 more)	Immunodeficiency 67	GPathogenic
Select item 712908	NM_016123.4(IRAK4):c.117T>A (p.Ile39=)	IRAK4	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 67	GBenign
Select item 755523	NM_016123.4(IRAK4):c.123A>G (p.Lys41=)	IRAK4	Single nucleotide variant (synonymous variant +2 more)	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 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 1021149	NM_016123.4(IRAK4):c.161G>A (p.Arg54Lys)	IRAK4 (R54K)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 2498182	NM_016123.4(IRAK4):c.161+1G>A	IRAK4	Single nucleotide variant (splice donor variant +1 more)	Congenital dyserythropoietic anemia	GLikely pathogenic
Select item 3006510	NM_016123.4(IRAK4):c.161+7_161+8del	IRAK4	Deletion (intron variant)	Immunodeficiency 67	GLikely benign
Select item 1113167	NM_016123.4(IRAK4):c.161+9T>A	IRAK4	Single nucleotide variant (intron 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 2628208	NM_016123.4(IRAK4):c.162-334G>A	IRAK4	Single nucleotide variant (intron variant)	not specified	GBenign
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 2790034	NM_016123.4(IRAK4):c.181C>T (p.Gln61Ter)	IRAK4 (Q61*)	Single nucleotide variant (nonsense +2 more)	Immunodeficiency 67	GPathogenic
Select item 2223021	NM_016123.4(IRAK4):c.184A>G (p.Thr62Ala)	IRAK4 (T62A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1043990	NM_016123.4(IRAK4):c.206A>C (p.Glu69Ala)	IRAK4 (E69A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1543869	NM_016123.4(IRAK4):c.219C>T (p.Asp73=)	IRAK4	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 67	GLikely benign
Select item 464933	NM_016123.4(IRAK4):c.224del (p.Gly75fs)	IRAK4 (G75fs)	Deletion (frameshift variant +2 more)	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 533525	NM_016123.4(IRAK4):c.229A>G (p.Thr77Ala)	IRAK4 (T77A)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 1145322	NM_016123.4(IRAK4):c.231A>C (p.Thr77=)	IRAK4	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 67	GLikely benign
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 1005469	NM_016123.4(IRAK4):c.255_260dup (p.Asp86_Leu87dup)	IRAK4	Duplication (inframe_insertion +2 more)	Immunodeficiency 67	GUncertain significance
Select item 1472124	NM_016123.4(IRAK4):c.266T>C (p.Ile89Thr)	IRAK4 (I89T)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 2803498	NM_016123.4(IRAK4):c.274_281dup (p.Phe94fs)	IRAK4 (F94fs)	Duplication (frameshift variant +2 more)	Immunodeficiency 67	GPathogenic
Select item 1427828	NM_016123.4(IRAK4):c.288_304del (p.Ala97fs)	IRAK4 (A97fs)	Deletion (frameshift variant +2 more)	Immunodeficiency 67	GPathogenic
Select item 1042198	NM_016123.4(IRAK4):c.284C>T (p.Ala95Val)	IRAK4 (A95V)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 533521	NM_016123.4(IRAK4):c.290C>T (p.Ala97Val)	IRAK4 (A97V)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 67	GUncertain significance
Select item 464934	NM_016123.4(IRAK4):c.291G>A (p.Ala97=)	IRAK4	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 67 +1 more	GConflicting classifications of pathogenicity
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 755877	NM_016123.4(IRAK4):c.303C>T (p.Leu101=)	IRAK4	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 67	GLikely benign
Select item 1950606	NM_016123.4(IRAK4):c.307+8G>A	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 1100378	NM_016123.4(IRAK4):c.307+8G>C	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 2053986	NM_016123.4(IRAK4):c.307+17_307+18inv	IRAK4	Inversion (intron variant)	Immunodeficiency 67	GLikely benign
Select item 1168210	NM_016123.4(IRAK4):c.307+18A>G	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67 +1 more	GBenign
Select item 1290774	NM_016123.4(IRAK4):c.307+262T>A	IRAK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225399	NM_016123.4(IRAK4):c.308-126C>T	IRAK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288518	NM_016123.4(IRAK4):c.308-47C>T	IRAK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1589971	NM_016123.4(IRAK4):c.308-19A>G	IRAK4	Single nucleotide variant (intron 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 1574985	NM_016123.4(IRAK4):c.308-12T>C	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 1920931	NM_016123.4(IRAK4):c.316C>T (p.Pro106Ser)	IRAK4 (P106S)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 67	GUncertain significance
Select item 308725	NM_016123.4(IRAK4):c.318C>G (p.Pro106=)	IRAK4	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 67 +1 more	GBenign/Likely 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 1803983	NM_016123.4(IRAK4):c.333del (p.Leu112fs)	IRAK4 (L112fs)	Deletion (frameshift variant +1 more)	Immunodeficiency 67	GPathogenic/Likely pathogenic
Select item 744759	NM_016123.4(IRAK4):c.334C>T (p.Leu112=)	IRAK4	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 67	GLikely benign
Select item 1047417	NM_016123.4(IRAK4):c.335T>C (p.Leu112Pro)	IRAK4 (L112P)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 67	GUncertain significance
Select item 1978502	NM_016123.4(IRAK4):c.343A>G (p.Lys115Glu)	IRAK4 (K115E)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 67	GUncertain significance
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 934104	NM_016123.4(IRAK4):c.346G>A (p.Glu116Lys)	IRAK4 (E116K)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 67	GUncertain significance
Select item 1000082	NM_016123.4(IRAK4):c.354A>G (p.Ile118Met)	IRAK4 (I118M)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 67	GUncertain significance
Select item 3286494	NM_016123.4(IRAK4):c.359T>G (p.Val120Gly)	IRAK4 (V120G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1012217	NM_016123.4(IRAK4):c.364C>T (p.Gln122Ter)	IRAK4 (Q122*)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 67	GPathogenic
Select item 577357	NM_016123.4(IRAK4):c.376C>T (p.Pro126Ser)	IRAK4 (P126S +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 67	GUncertain significance
Select item 1002731	NM_016123.4(IRAK4):c.392A>T (p.Asp131Val)	IRAK4 (D131V +1 more)	Single nucleotide variant (missense variant +1 more)	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 2078363	NM_016123.4(IRAK4):c.423T>C (p.Leu141=)	IRAK4	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 67	GLikely benign
Select item 1059930	NM_016123.4(IRAK4):c.424G>C (p.Glu142Gln)	IRAK4 (E142Q +1 more)	Single nucleotide variant (missense variant +1 more)	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 946871	NM_016123.4(IRAK4):c.431G>C (p.Ser144Thr)	IRAK4 (S20T +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 67 +1 more	GUncertain significance
Select item 1957642	NM_016123.4(IRAK4):c.447C>G (p.Asp149Glu)	IRAK4 (D149E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1001040	NM_016123.4(IRAK4):c.447CTC[1] (p.Ser152del)	IRAK4 (S152del +1 more)	Microsatellite (inframe_deletion +1 more)	Immunodeficiency 67	GUncertain significance
Select item 860771	NM_016123.4(IRAK4):c.467A>G (p.Lys156Arg)	IRAK4 (K32R +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 67	GUncertain significance
Select item 643876	NM_016123.4(IRAK4):c.479T>A (p.Val160Asp)	IRAK4 (V36D +1 more)	Single nucleotide variant (missense 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 1544622	NM_016123.4(IRAK4):c.490+13T>C	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign
Select item 1599621	NM_016123.4(IRAK4):c.490+16A>C	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GBenign
Select item 3018170	NM_016123.4(IRAK4):c.490+20C>T	IRAK4	Single nucleotide variant (intron variant)	Immunodeficiency 67	GLikely benign

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