Unique variants in the IL1RAPL1 gene

Information The variants shown are described using the NM_014271.3 transcript reference sequence.

63 entries on 1 page. Showing entries 1 - 63.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 1 c.-302dup r.(?) p.(=) - likely benign g.28605887dup g.28587770dup - - IL1RAPL1_000005 - - - - Germline ? - - - - Yu Sun
+/. 1 1i_6i c.(-26+1_-25+77755)_(778+66744_779-1)del r.? p.0? - pathogenic (recessive) g.(28606164_28683919)_(29753365_29935580)del g.(28588047_28665802)_(29735248_29917463)del hg19 28,683,919-29,753,365del - IL1RAPL1_000048 hg19 28,683,919-29,753,365del PubMed: Mikhail 2011, Journal: Mikhail 2011 - - Germline - - - - - Johan den Dunnen
-?/. 2 1i c.-25+199_-25+200del r.(=) p.(=) - likely benign g.28606363_28606364del g.28588246_28588247del - - IL1RAPL1_000004 - - - - Germline ? - - - - Yu Sun
+/. 1 1i_11_ c.(-24-1_-24-35903)_(*1_?)del r.0? p.0 - pathogenic g.(28606165_28771534)_(30746860_31140035)del - - - IL1RAPL1_000022 deletion (1i_DXS1147)_(GK_DMD)del PubMed: Carrie 1999 - - Unknown - - - - - Johan den Dunnen
-/., -?/. 2 - c.-19G>A r.(?) p.(=) - benign, likely benign g.28807442G>A g.28789325G>A IL1RAPL1(NM_014271.4):c.-19G>A - IL1RAPL1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/+, +/. 5 2i_11_, _1_11, _1_11_ c.(?_-1)_(*1_?)del r.0, r.? p.0, p.? - pathogenic, pathogenic (recessive) g.(25007364_26471345)_(30082645_30128228)del, g.(25034000_28807460)_(31645980_31676106)del, 3 more items g.(?_31119228)_(33339609_?)del - - DMD_040078, DMD_050080, IL1RAPL1_000020, IL1RAPL1_000021, IL1RAPL1_000023 deletion extends from (2i_DXS1218)_(AHC_GK), deletion extends from (DXS1202_DXS28)_(AHC_GK), 3 more items PubMed: Carrie 1999, PubMed: Zhang 2004, PubMed: Zhang 2004, Journal: Zhang 2004 - - Germline, Germline/De novo (untested), Unknown yes - - - - Johan den Dunnen
./. 1 _1_6i c.(-25+1_779-1)_?del r.0 p.0 - pathogenic (recessive) g.(28606165_29935580)_(33229674_?)del - - - DMD_040080 deletion incl. IL1RAPL1 (partial), NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - - - Johan den Dunnen
+/. 1 5i_11_ c.(778+1_779-1)_*80[0] r.? p.? - pathogenic (recessive) g.(29686622_29935580)_(31366752_31462597)del g.(29668505_29917463)_(31348635_31444480)del - - DMD_066680 deletion involving GK and NR0B1 and part of IL1RAPL1 and DMD PubMed: Korkut 2016 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.(82+1_82+200633)_*80[0] r.? p.? - pathogenic (recessive) g.(28900000_29008175)_(31496701_31600000)del - hg19 29008175–31496701del - DMD_066684 2.49 Mb deletion including IL1RAPL1, DAX1, GK and last 22 exons DMD - - - Germline/De novo (untested) - - - - X-inactivation CpG island 5' CAG repeat AR gene muscle 50:50, blood 63:37 Johan den Dunnen
+/+, +/. 10 _1_11, _1_11_ c.0 r.0 p.0 - pathogenic (recessive) g.(25000000_28500000)_(33357726_37000000)del, g.(25040000_28600000)_(31241239_31279071)del, 5 more items g.(28180000_28480000)_(31968515_32216915)del, g.(?_31119228)_(31875374_31929595)del hg19 25878399_31987991del - DMD_003415, DMD_003416, DMD_003417, DMD_040079, DMD_054880, DMD_066681, DMD_066683 3.88 Mb deletion covering IL1RAPL1, GK, NR0B1 and part of DMD, 5 more items PubMed: Heide 2015, PubMed: Korkut 2016, PubMed: Piko 2009, PubMed: Zhang 2004, Journal: Zhang 2004 - - De novo, Germline, Germline/De novo (untested), Unknown -, yes - - - X-inactivation CpG island 5' CAG repeat AR gene 59%:41% Johan den Dunnen
+/. 1 8i_ c.1058-10549_*80{0} r.? p.? - pathogenic (recessive) g.29949219_31144301del g.29931102_31126184del - - DMD_000533 breakpoint in intron 8 IL1RAPL1 gene (antisense strand), RNA contains new 3' sequence replacing ex79 PubMed: Jin 2000, PubMed: Greener 2002, GenBank AF181286.1 - - Germline yes - - - - Johan den Dunnen
-?/. 2 2 c.36C>T r.(?) p.(=), p.(Tyr12=) - likely benign g.28807496C>T g.28789379C>T IL1RAPL1(NM_014271.3):c.36C>T (p.Y12=), Y12Y - IL1RAPL1_000002 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_Rotterdam
?/. 1 - c.61G>T r.(?) p.(Val21Phe) - VUS g.28807521G>T g.28789404G>T IL1RAPL1(NM_014271.3):c.61G>T (p.V21F) - IL1RAPL1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2i_5i c.(81+1_82-1)_(703+1_704-1)del r.del p.? - pathogenic g.(28807540_29417426)del - del ex3-5 - IL1RAPL1_000010 1 more item PubMed: Carrie 1999 - - Germline yes - - - - Johan den Dunnen
+/. 1 2i_6i c.(81+1_82-1)_(778+1_779-1)del r.del p.? - pathogenic g.(28807542_28807541)_(29686622_29935580)del - del ex2-5 - IL1RAPL1_000027 mapped by linkage PubMed: Nawara 2008 - - Germline yes - - - - Johan den Dunnen
-?/. 1 2i c.82+206A>G r.(=) p.(=) - likely benign g.28807748A>G g.28789631A>G - - IL1RAPL1_000012 - PubMed: Almomani 2011 - rs6526807 Germline ? - - - - Gerard C.P. Schaafsma
-?/. 1 2i c.82+227T>C r.(=) p.(=) - likely benign g.28807769T>C g.28789652T>C - - IL1RAPL1_000011 - PubMed: Almomani 2011 - rs12690144 Germline ? - - - - Gerard C.P. Schaafsma
./. 1 - c.82+152937_362+45dup r.? p.? - pathogenic g.28960479_29301379dup - IL1RAPL1 - IL1RAPL1_000043 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
+/. 1 2i_7i c.(83-106390_83-75556)_(911+80_911+680)del r.83_911del p.Ala28Glufs - pathogenic g.(29194665_29225499)_(29935793_29936393)del - hg18 g.(29104586_29135420)_(29838753_29856482)del - IL1RAPL1_000019 730 kb deletion PubMed: Piton 2008, Journal: Piton 2008 - - Germline - - - - - Johan den Dunnen
+/. 2 3 c.91T>C r.(?) p.(Cys31Arg), p.Cys31Arg - NA, pathogenic g.29301063T>C g.29282946T>C - - IL1RAPL1_000003 1 more item PubMed: Ramos-Brossier 2015, Journal: Ramos-Brossier 2015, 1 more item - - Germline, In vitro (cloned) -, yes 1/208 families - - - Johan den Dunnen, Pierre Billuart
?/. 1 - c.146T>C r.(?) p.(Val49Ala) - VUS g.29301118T>C - IL1RAPL1(NM_014271.4):c.146T>C (p.V49A) - IL1RAPL1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.148C>T r.(?) p.(Arg50*) - likely pathogenic g.29301120C>T g.29283003C>T - - IL1RAPL1_000056 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 1 - c.163C>T r.(?) p.(Leu55Phe) - VUS g.29301135C>T g.29283018C>T IL1RAPL1(NM_014271.3):c.163C>T (p.L55F) - IL1RAPL1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 3 c.194C>A r.(?) p.(Ser65Tyr) - VUS g.29301166C>A g.29283049C>A - - IL1RAPL1_000061 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.231C>T r.(?) p.(Tyr77=) - likely benign g.29301203C>T g.29283086C>T IL1RAPL1(NM_014271.3):c.231C>T (p.Y77=) - IL1RAPL1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.233A>G r.(?) p.(Lys78Arg) - VUS g.29301205A>G g.29283088A>G IL1RAPL1(NM_014271.3):c.233A>G (p.K78R) - IL1RAPL1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.349G>A r.(?) p.(Ala117Thr) - likely benign g.29301321G>A g.29283204G>A - - IL1RAPL1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.520A>G r.(?) p.(Thr174Ala) - likely benign g.29414532A>G g.29396415A>G IL1RAPL1(NM_014271.3):c.520A>G (p.T174A) - IL1RAPL1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.606dup r.(?) p.(Ile203Tyrfs*8) - likely pathogenic g.29417328dup g.29399211dup - - IL1RAPL1_000057 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 1 - c.641A>T r.(?) p.(Tyr214Phe) - VUS g.29417363A>T g.29399246A>T IL1RAPL1(NM_014271.3):c.641A>T (p.Y214F) - IL1RAPL1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.651A>C r.(?) p.(Glu217Asp) - VUS g.29417373A>C g.29399256A>C IL1RAPL1(NM_014271.3):c.651A>C (p.E217D) - IL1RAPL1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 2 5i c.703+85C>A r.(=) p.(=) - likely benign g.29417510C>A g.29399393C>A - - IL1RAPL1_000006 - - - - Germline ? - - - - Yu Sun
+/. 1 5i_6i c.703+99897_778+59920del r.(del) p.(Ala235_Leu259del) - pathogenic g.29517322_29746541del g.29499205_29728424del - - IL1RAPL1_000008 - PubMed: Ramos-Brossier 2015, Journal: Ramos-Brossier 2015 - - Germline yes - - - - Pierre Billuart
+/. 1 5i_6i c.704-2473_778+5192del r.704_778del p.Ala235_Leu259del - pathogenic g.29684074_29691813del g.29665957_29673696del - - IL1RAPL1_000009 in female patient random X-inactivation (variant APOO gene) PubMed: Ramos-Brossier 2015, Journal: Ramos-Brossier 2015 - - Germline yes - - - - Pierre Billuart
+/. 1 6 c.704_778del r.704_778del p.Ala235_Leu259del - NA g.29686547_29686621del g.29668430_29668504del - - IL1RAPL1_000014 1 more item PubMed: Ramos-Brossier 2015, Journal: Ramos-Brossier 2015 - - In vitro (cloned) no - - - - Johan den Dunnen
+/. 1 6i_11_ c.(778+1_779-1)_(*1_?)del r.? p.? - pathogenic g.(29686622_29935580)_(30327481_30671654)del - - - IL1RAPL1_000024 deletion extends from (6i_DXS7187)_(AHC_GK) - - - Unknown - - - - - Johan den Dunnen
-?/. 1 - c.783C>G r.(?) p.(Asp261Glu) - likely benign g.29935585C>G - IL1RAPL1(NM_014271.3):c.783C>G (p.D261E) - IL1RAPL1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.784T>G r.(?) p.(Ser262Ala) - likely benign g.29935586T>G g.29917469T>G IL1RAPL1(NM_014271.3):c.784T>G (p.S262A) - IL1RAPL1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.793C>G r.(?) p.(Leu265Val) - VUS g.29935595C>G g.29917478C>G IL1RAPL1(NM_014271.3):c.793C>G (p.L265V) - IL1RAPL1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.889C>T r.(?) p.(Arg297*) - likely pathogenic g.29935691C>T g.29917574C>T - - IL1RAPL1_000058 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.894_903del r.(?) p.(Trp299Thrfs*18) - pathogenic (recessive) g.29935696_29935705del g.29917579_29917588del - - IL1RAPL1_000053 - PubMed: Redin 2014 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1024C>T r.(?) p.(Arg342Cys) - likely benign g.29938178C>T - - - IL1RAPL1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1028G>A r.(?) p.(Arg343Gln) - VUS g.29938182G>A g.29920065G>A - - IL1RAPL1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1039G>T r.(?) p.(Val347Phe) - VUS g.29938193G>T g.29920076G>T IL1RAPL1(NM_014271.3):c.1039G>T (p.V347F) - IL1RAPL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1054C>T r.(?) p.(Arg352Ter) - pathogenic g.29938208C>T g.29920091C>T - - IL1RAPL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 9 c.1100_1106del r.(?) p.(Ile367Serfs*7), p.Ile367Serfs*7 - NA, pathogenic g.29959810_29959816del g.29941693_29941699del 1730delTACTCTT - IL1RAPL1_000015 1 more item PubMed: Piton 2008, Journal: Piton 2008 - - De novo, In vitro (cloned) yes 1/142 cases - - - Johan den Dunnen
-?/. 1 9 c.1136A>G r.(?) p.(Lys379Arg) - likely benign g.29959846A>G g.29941729A>G K379R - IL1RAPL1_000016 not in 190 controls PubMed: Piton 2008, Journal: Piton 2008 - - Germline - 1/142 cases - - - Johan den Dunnen
+/. 1 11 c.1377C>A r.1377c>a p.Tyr459* - pathogenic g.29973223C>A g.29955106C>A - - IL1RAPL1_000007 RNA expression lymphoblastoid cell line strongly reduced PubMed: Carrie 1999, OMIM:var0001 - - Unknown yes - - - - Johan den Dunnen
?/. 1 - c.1421T>G r.(?) p.(Ile474Ser) - VUS g.29973267T>G g.29955150T>G IL1RAPL1(NM_014271.3):c.1421T>G (p.I474S) - IL1RAPL1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1443C>A r.(?) p.(Tyr481*) - VUS g.29973289C>A - IL1RAPL1(NM_014271.3):c.1443C>A (p.Y481*) - IL1RAPL1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 11 c.1460G>A r.(?) p.(Trp487*) - pathogenic g.29973306G>A g.29955189G>A - - IL1RAPL1_000025 - PubMed: Tabolacci 2006 - - Germline yes - - - - Johan den Dunnen
+/., +?/. 2 - c.1489C>T r.(1489c>u), r.(?) p.(Arg497*) ACMG likely pathogenic, pathogenic g.29973335C>T g.29955218C>T - - IL1RAPL1_000042 ACMG grading: PVS1,PM2 PubMed: Du 2018 - - De novo, Germline - - - - - Andreas Laner, Fei Li
+/. 1 11 c.1510G>T r.(?) p.(Glu504*) - pathogenic g.29973356G>T g.29955239G>T 1510C>T - IL1RAPL1_000026 - PubMed: de Brouwer 2007 - - Germline yes - - - - Johan den Dunnen
-?/. 2 11 c.1605G>T r.(?) p.(=), p.(Thr535=) - likely benign g.29973451G>T g.29955334G>T IL1RAPL1(NM_014271.3):c.1605G>T (p.T535=), T535T - IL1RAPL1_000001 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_Rotterdam
?/. 1 - c.1700T>C r.(?) p.(Ile567Thr) - VUS g.29973546T>C - - - IL1RAPL1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 11 c.1854A>Y r.(?) p.(Gln618His) - likely benign g.29973700A>Y g.29955583A>Y Q618H - IL1RAPL1_000017 - PubMed: Piton 2008, Journal: Piton 2008 - - Germline - 1/142 cases, 1/190 controls - - - Johan den Dunnen
-?/., ?/. 3 - c.1894G>A r.(?) p.(Val632Ile) - likely benign, VUS g.29973740G>A g.29955623G>A IL1RAPL1(NM_014271.4):c.1894G>A (p.V632I) - IL1RAPL1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 11 c.1909A>T r.(?) p.(Thr637Ser) - likely benign g.29973755A>T g.29955638A>T T637S - IL1RAPL1_000018 - PubMed: Piton 2008, Journal: Piton 2008 - - Germline - 1/190 controls - - - Johan den Dunnen
?/. 2 - c.1918C>G r.(?) p.(Leu640Val) - VUS g.29973764C>G g.29955647C>G IL1RAPL1(NM_014271.3):c.1918C>G (p.L640V, p.(Leu640Val)) - IL1RAPL1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.1925C>G r.(?) p.(Ser642Cys) - VUS g.29973771C>G g.29955654C>G IL1RAPL1(NM_014271.3):c.1925C>G (p.(Ser642Cys)) - IL1RAPL1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 3 11 c.1927A>G r.(?) p.(Ile643Val), p.Ile643Val - likely benign, NA g.29973773A>G g.29955656A>G I643V - IL1RAPL1_000013 expression cloning functional assays give normal results, variant not in affected brother PubMed: Piton 2008, Journal: Piton 2008, PubMed: Ramos-Brossier 2015, Journal: Ramos-Brossier 2015 - - Germline, In vitro (cloned), Unknown -, no 1/190 controls - - - Johan den Dunnen
-?/. 1 - c.2049G>A r.(?) p.(Pro683=) - likely benign g.29973895G>A g.29955778G>A IL1RAPL1(NM_014271.3):c.2049G>A (p.P683=) - IL1RAPL1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2067C>G r.(?) p.(Thr689=) - likely benign g.29973913C>G g.29955796C>G IL1RAPL1(NM_014271.3):c.2067C>G (p.T689=) - IL1RAPL1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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