All variants in the IL1RAPL2 gene

Information The variants shown are described using the NM_017416.1 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

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     
-?/. - c.16C>T r.(?) p.(Leu6Phe) - likely benign g.103903610C>T g.104658929C>T IL1RAPL2(NM_017416.1):c.16C>T (p.L6F) - IL1RAPL2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.187A>G r.(?) p.(Asn63Asp) - VUS g.104440261A>G - IL1RAPL2(NM_017416.1):c.187A>G (p.N63D) - IL1RAPL2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.317C>T r.(?) p.(Ala106Val) - VUS g.104440391C>T g.105195709C>T - - IL1RAPL2_000009 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.357-14436G>C r.(=) p.(=) - VUS g.104464066G>C - TEX13A(NM_031274.3):c.812C>G (p.(Ser271Trp)) - IL1RAPL2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.357-14320C>A r.(=) p.(=) - likely benign g.104464182C>A - TEX13A(NM_031274.4):c.694G>T (p.A232S) - IL1RAPL2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.357-14226del - p.(=) - VUS g.104464276del - - - IL1RAPL2_000001 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. - - - Germline - - - - - Yu Sun
?/. - c.357-14221del - p.(=) - VUS g.104464281del - - - IL1RAPL2_000002 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. - - - Germline - - - - - Yu Sun
-?/. - c.357-14160T>A r.(=) p.(=) - likely benign g.104464342T>A g.105219658T>A TEX13A(NM_031274.3):c.536A>T (p.(Glu179Val)) - IL1RAPL2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.357-13842T>C r.(=) p.(=) - likely benign g.104464660T>C g.105219976T>C TEX13A(NM_031274.3):c.422A>G (p.(Lys141Arg)) - IL1RAPL2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.951C>A r.(?) p.(Ile317=) - likely benign g.104984587C>A - IL1RAPL2(NM_017416.1):c.951C>A (p.I317=) - IL1RAPL2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.981G>A r.(?) p.(Ala327=) - likely benign g.104984617G>A g.105740624G>A IL1RAPL2(NM_017416.1):c.981G>A (p.A327=) - IL1RAPL2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1059T>C r.(=) p.(=) - likely benign g.104992963T>C g.105748970T>C Y353Y - IL1RAPL2_000010 recurrent, found 19 times PubMed: Tarpey 2009 - - Germline - 19/208 cases - 0 - Lucy Raymond
?/. - c.1431C>G r.(?) p.(Asp477Glu) - VUS g.105011024C>G g.105767031C>G - - IL1RAPL2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1916A>G r.(?) p.(His639Arg) - VUS g.105011509A>G g.105767516A>G - - IL1RAPL2_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
+?/. - c.1940C>T r.(?) p.(Thr647Met) - likely pathogenic g.105011533C>T g.105767540C>T - - IL1RAPL2_000020 - PubMed: Zhu 2015 - - De novo - - - 0 - Johan den Dunnen
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