Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 26684 deletion XIAP, 1-BP DEL, 291C -1 MedGen:C1845076,OMIM:300635 na -1 -1 na na 26685 single nucleotide variant NM_001167.3(XIAP):c.352G>T (p.Glu118Ter) 104894764 MedGen:C1845076,OMIM:300635 X 123019864 123019864 G T 26685 single nucleotide variant NM_001167.3(XIAP):c.352G>T (p.Glu118Ter) 104894764 MedGen:C1845076,OMIM:300635 X 123886014 123886014 G T 26686 deletion XIAP, 2606-BP DEL -1 MedGen:C1845076,OMIM:300635 na -1 -1 na na 45837 single nucleotide variant NM_001167.3(XIAP):c.608G>A (p.Cys203Tyr) 387907301 MedGen:C1845076,OMIM:300635 X 123020120 123020120 G A 45837 single nucleotide variant NM_001167.3(XIAP):c.608G>A (p.Cys203Tyr) 387907301 MedGen:C1845076,OMIM:300635 X 123886270 123886270 G A 257745 single nucleotide variant NM_001167.3(XIAP):c.1268A>C (p.Gln423Pro) 5956583 MedGen:CN201619,Orphanet:ORPHA238510;MedGen:CN169374 X 123034511 123034511 A C 257745 single nucleotide variant NM_001167.3(XIAP):c.1268A>C (p.Gln423Pro) 5956583 MedGen:CN201619,Orphanet:ORPHA238510;MedGen:CN169374 X 123900661 123900661 A C 271618 single nucleotide variant NM_001167.3(XIAP):c.844G>A (p.Glu282Lys) 777303823 MedGen:CN169374 X 123020356 123020356 G A 271618 single nucleotide variant NM_001167.3(XIAP):c.844G>A (p.Glu282Lys) 777303823 MedGen:CN169374 X 123886506 123886506 G A 338753 single nucleotide variant NM_001167.3(XIAP):c.933G>A (p.Lys311=) 749597959 MedGen:CN201619,Orphanet:ORPHA238510 X 123888674 123888674 G A 338753 single nucleotide variant NM_001167.3(XIAP):c.933G>A (p.Lys311=) 749597959 MedGen:CN201619,Orphanet:ORPHA238510 X 123022524 123022524 G A 338757 single nucleotide variant NM_001167.3(XIAP):c.*80G>C 12838858 MedGen:CN201619,Orphanet:ORPHA238510 X 123907261 123907261 G C 338757 single nucleotide variant NM_001167.3(XIAP):c.*80G>C 12838858 MedGen:CN201619,Orphanet:ORPHA238510 X 123041111 123041111 G C 338764 single nucleotide variant NM_001167.3(XIAP):c.*870G>C 185823003 MedGen:CN201619,Orphanet:ORPHA238510 X 123908051 123908051 G C 338764 single nucleotide variant NM_001167.3(XIAP):c.*870G>C 185823003 MedGen:CN201619,Orphanet:ORPHA238510 X 123041901 123041901 G C 338766 single nucleotide variant NM_001167.3(XIAP):c.*1958G>A 41309540 MedGen:CN201619,Orphanet:ORPHA238510 X 123909139 123909139 G A 338766 single nucleotide variant NM_001167.3(XIAP):c.*1958G>A 41309540 MedGen:CN201619,Orphanet:ORPHA238510 X 123042989 123042989 G A 338769 single nucleotide variant NM_001167.3(XIAP):c.*2401C>T 771727226 MedGen:CN201619,Orphanet:ORPHA238510 X 123909582 123909582 C T 338769 single nucleotide variant NM_001167.3(XIAP):c.*2401C>T 771727226 MedGen:CN201619,Orphanet:ORPHA238510 X 123043432 123043432 C T 338771 single nucleotide variant NM_001167.3(XIAP):c.*2845C>T 17330644 MedGen:CN201619,Orphanet:ORPHA238510 X 123043876 123043876 C T 338771 single nucleotide variant NM_001167.3(XIAP):c.*2845C>T 17330644 MedGen:CN201619,Orphanet:ORPHA238510 X 123910026 123910026 C T 338779 single nucleotide variant NM_001167.3(XIAP):c.*2901T>C 1057515751 MedGen:CN201619,Orphanet:ORPHA238510 X 123043932 123043932 T C 338779 single nucleotide variant NM_001167.3(XIAP):c.*2901T>C 1057515751 MedGen:CN201619,Orphanet:ORPHA238510 X 123910082 123910082 T C 338780 single nucleotide variant NM_001167.3(XIAP):c.*3205T>C 777738703 MedGen:CN201619,Orphanet:ORPHA238510 X 123044236 123044236 T C 338780 single nucleotide variant NM_001167.3(XIAP):c.*3205T>C 777738703 MedGen:CN201619,Orphanet:ORPHA238510 X 123910386 123910386 T C 338787 single nucleotide variant NM_001167.3(XIAP):c.*3611C>T 28382746 MedGen:CN201619,Orphanet:ORPHA238510 X 123044642 123044642 C T 338787 single nucleotide variant NM_001167.3(XIAP):c.*3611C>T 28382746 MedGen:CN201619,Orphanet:ORPHA238510 X 123910792 123910792 C T 338791 single nucleotide variant NM_001167.3(XIAP):c.*4610C>T 9856 MedGen:CN201619,Orphanet:ORPHA238510 X 123911791 123911791 C T 338791 single nucleotide variant NM_001167.3(XIAP):c.*4610C>T 9856 MedGen:CN201619,Orphanet:ORPHA238510 X 123045641 123045641 C T 338796 insertion NM_001167.3(XIAP):c.*5068_*5069insT 58114044 MedGen:CN201619,Orphanet:ORPHA238510 X 123912249 123912250 - T 338796 insertion NM_001167.3(XIAP):c.*5068_*5069insT 58114044 MedGen:CN201619,Orphanet:ORPHA238510 X 123046099 123046100 - T 338798 single nucleotide variant NM_001167.3(XIAP):c.*5069A>T 5956584 MedGen:CN201619,Orphanet:ORPHA238510 X 123912250 123912250 A T 338798 single nucleotide variant NM_001167.3(XIAP):c.*5069A>T 5956584 MedGen:CN201619,Orphanet:ORPHA238510 X 123046100 123046100 A T 338799 duplication NM_001167.3(XIAP):c.*5180dupA 398122235 MedGen:CN201619,Orphanet:ORPHA238510 X 123912361 123912361 A AA 338799 duplication NM_001167.3(XIAP):c.*5180dupA 398122235 MedGen:CN201619,Orphanet:ORPHA238510 X 123046211 123046211 A AA 338805 single nucleotide variant NM_001167.3(XIAP):c.*5756C>T 149254603 MedGen:CN201619,Orphanet:ORPHA238510 X 123912937 123912937 C T 338805 single nucleotide variant NM_001167.3(XIAP):c.*5756C>T 149254603 MedGen:CN201619,Orphanet:ORPHA238510 X 123046787 123046787 C T 338806 single nucleotide variant NM_001167.3(XIAP):c.*6211C>T 1057515759 MedGen:CN201619,Orphanet:ORPHA238510 X 123047242 123047242 C T 338806 single nucleotide variant NM_001167.3(XIAP):c.*6211C>T 1057515759 MedGen:CN201619,Orphanet:ORPHA238510 X 123913392 123913392 C T 338809 single nucleotide variant NM_001167.3(XIAP):c.*6216G>A 1057515760 MedGen:CN201619,Orphanet:ORPHA238510 X 123047247 123047247 G A 338809 single nucleotide variant NM_001167.3(XIAP):c.*6216G>A 1057515760 MedGen:CN201619,Orphanet:ORPHA238510 X 123913397 123913397 G A 338823 single nucleotide variant NM_001167.3(XIAP):c.*6220C>T 370656891 MedGen:CN201619,Orphanet:ORPHA238510 X 123047251 123047251 C T 338823 single nucleotide variant NM_001167.3(XIAP):c.*6220C>T 370656891 MedGen:CN201619,Orphanet:ORPHA238510 X 123913401 123913401 C T 348369 single nucleotide variant NM_001167.3(XIAP):c.*253C>T 1057515749 MedGen:CN201619,Orphanet:ORPHA238510 X 123907434 123907434 C T 348369 single nucleotide variant NM_001167.3(XIAP):c.*253C>T 1057515749 MedGen:CN201619,Orphanet:ORPHA238510 X 123041284 123041284 C T 348371 single nucleotide variant NM_001167.3(XIAP):c.*482G>A 144625027 MedGen:CN201619,Orphanet:ORPHA238510 X 123907663 123907663 G A 348371 single nucleotide variant NM_001167.3(XIAP):c.*482G>A 144625027 MedGen:CN201619,Orphanet:ORPHA238510 X 123041513 123041513 G A 348376 single nucleotide variant NM_001167.3(XIAP):c.*579G>A 758981602 MedGen:CN201619,Orphanet:ORPHA238510 X 123907760 123907760 G A 348376 single nucleotide variant NM_001167.3(XIAP):c.*579G>A 758981602 MedGen:CN201619,Orphanet:ORPHA238510 X 123041610 123041610 G A 348377 single nucleotide variant NM_001167.3(XIAP):c.*803G>T 28382742 MedGen:CN201619,Orphanet:ORPHA238510 X 123907984 123907984 G T 348377 single nucleotide variant NM_001167.3(XIAP):c.*803G>T 28382742 MedGen:CN201619,Orphanet:ORPHA238510 X 123041834 123041834 G T 348379 single nucleotide variant NM_001167.3(XIAP):c.*2682T>G 191855689 MedGen:CN201619,Orphanet:ORPHA238510 X 123043713 123043713 T G 348379 single nucleotide variant NM_001167.3(XIAP):c.*2682T>G 191855689 MedGen:CN201619,Orphanet:ORPHA238510 X 123909863 123909863 T G 348381 single nucleotide variant NM_001167.3(XIAP):c.*3001T>A 765082277 MedGen:CN201619,Orphanet:ORPHA238510 X 123044032 123044032 T A 348381 single nucleotide variant NM_001167.3(XIAP):c.*3001T>A 765082277 MedGen:CN201619,Orphanet:ORPHA238510 X 123910182 123910182 T A 348383 single nucleotide variant NM_001167.3(XIAP):c.*3383T>C 17330651 MedGen:CN201619,Orphanet:ORPHA238510 X 123044414 123044414 T C 348383 single nucleotide variant NM_001167.3(XIAP):c.*3383T>C 17330651 MedGen:CN201619,Orphanet:ORPHA238510 X 123910564 123910564 T C 348387 single nucleotide variant NM_001167.3(XIAP):c.*3997A>G 1057515755 MedGen:CN201619,Orphanet:ORPHA238510 X 123911178 123911178 A G 348387 single nucleotide variant NM_001167.3(XIAP):c.*3997A>G 1057515755 MedGen:CN201619,Orphanet:ORPHA238510 X 123045028 123045028 A G 348389 single nucleotide variant NM_001167.3(XIAP):c.*4015A>G 28382749 MedGen:CN201619,Orphanet:ORPHA238510 X 123911196 123911196 A G 348389 single nucleotide variant NM_001167.3(XIAP):c.*4015A>G 28382749 MedGen:CN201619,Orphanet:ORPHA238510 X 123045046 123045046 A G 348395 single nucleotide variant NM_001167.3(XIAP):c.*4092G>A 773227715 MedGen:CN201619,Orphanet:ORPHA238510 X 123911273 123911273 G A 348395 single nucleotide variant NM_001167.3(XIAP):c.*4092G>A 773227715 MedGen:CN201619,Orphanet:ORPHA238510 X 123045123 123045123 G A 348400 duplication NM_001167.3(XIAP):c.*4307_*4309dupAAA 397713705 MedGen:CN201619,Orphanet:ORPHA238510 X 123911488 123911490 AAA AAAAAA 348400 duplication NM_001167.3(XIAP):c.*4307_*4309dupAAA 397713705 MedGen:CN201619,Orphanet:ORPHA238510 X 123045338 123045340 AAA AAAAAA 348406 single nucleotide variant NM_001167.3(XIAP):c.*4884C>T 8371 MedGen:CN201619,Orphanet:ORPHA238510 X 123912065 123912065 C T 348406 single nucleotide variant NM_001167.3(XIAP):c.*4884C>T 8371 MedGen:CN201619,Orphanet:ORPHA238510 X 123045915 123045915 C T 348407 single nucleotide variant NM_001167.3(XIAP):c.*4889T>C 185939201 MedGen:CN201619,Orphanet:ORPHA238510 X 123912070 123912070 T C 348407 single nucleotide variant NM_001167.3(XIAP):c.*4889T>C 185939201 MedGen:CN201619,Orphanet:ORPHA238510 X 123045920 123045920 T C 348410 single nucleotide variant NM_001167.3(XIAP):c.*5295A>T 755335432 MedGen:CN201619,Orphanet:ORPHA238510 X 123912476 123912476 A T 348410 single nucleotide variant NM_001167.3(XIAP):c.*5295A>T 755335432 MedGen:CN201619,Orphanet:ORPHA238510 X 123046326 123046326 A T 348412 single nucleotide variant NM_001167.3(XIAP):c.*5368C>T 138392322 MedGen:CN201619,Orphanet:ORPHA238510 X 123912549 123912549 C T 348412 single nucleotide variant NM_001167.3(XIAP):c.*5368C>T 138392322 MedGen:CN201619,Orphanet:ORPHA238510 X 123046399 123046399 C T 348414 deletion NM_001167.3(XIAP):c.*5519delT 1057515758 MedGen:CN201619,Orphanet:ORPHA238510 X 123912700 123912700 T - 348414 deletion NM_001167.3(XIAP):c.*5519delT 1057515758 MedGen:CN201619,Orphanet:ORPHA238510 X 123046550 123046550 T - 348417 single nucleotide variant NM_001167.3(XIAP):c.*6221G>A 757596272 MedGen:CN201619,Orphanet:ORPHA238510 X 123047252 123047252 G A 348417 single nucleotide variant NM_001167.3(XIAP):c.*6221G>A 757596272 MedGen:CN201619,Orphanet:ORPHA238510 X 123913402 123913402 G A 348424 single nucleotide variant NM_001167.3(XIAP):c.*6251C>T 28382755 MedGen:CN201619,Orphanet:ORPHA238510 X 123047282 123047282 C T 348424 single nucleotide variant NM_001167.3(XIAP):c.*6251C>T 28382755 MedGen:CN201619,Orphanet:ORPHA238510 X 123913432 123913432 C T 348432 single nucleotide variant NM_001167.3(XIAP):c.*6357G>A 41312771 MedGen:CN201619,Orphanet:ORPHA238510 X 123047388 123047388 G A 348432 single nucleotide variant NM_001167.3(XIAP):c.*6357G>A 41312771 MedGen:CN201619,Orphanet:ORPHA238510 X 123913538 123913538 G A 348434 single nucleotide variant NM_001167.3(XIAP):c.*6422T>A 5911725 MedGen:CN201619,Orphanet:ORPHA238510 X 123047453 123047453 T A 348434 single nucleotide variant NM_001167.3(XIAP):c.*6422T>A 5911725 MedGen:CN201619,Orphanet:ORPHA238510 X 123913603 123913603 T A 352022 single nucleotide variant NM_001167.3(XIAP):c.309G>A (p.Thr103=) 140230812 MedGen:CN201619,Orphanet:ORPHA238510 X 123885971 123885971 G A 352022 single nucleotide variant NM_001167.3(XIAP):c.309G>A (p.Thr103=) 140230812 MedGen:CN201619,Orphanet:ORPHA238510 X 123019821 123019821 G A 352023 single nucleotide variant NM_001167.3(XIAP):c.962C>G (p.Ala321Gly) 182340753 MedGen:CN201619,Orphanet:ORPHA238510 X 123888703 123888703 C G 352023 single nucleotide variant NM_001167.3(XIAP):c.962C>G (p.Ala321Gly) 182340753 MedGen:CN201619,Orphanet:ORPHA238510 X 123022553 123022553 C G 352024 deletion NM_001167.3(XIAP):c.*1179_*1182delATTA 1057515750 MedGen:CN201619,Orphanet:ORPHA238510 X 123908360 123908363 ATTA - 352024 deletion NM_001167.3(XIAP):c.*1179_*1182delATTA 1057515750 MedGen:CN201619,Orphanet:ORPHA238510 X 123042210 123042213 ATTA - 352025 single nucleotide variant NM_001167.3(XIAP):c.*1298G>C 41312612 MedGen:CN201619,Orphanet:ORPHA238510 X 123908479 123908479 G C 352025 single nucleotide variant NM_001167.3(XIAP):c.*1298G>C 41312612 MedGen:CN201619,Orphanet:ORPHA238510 X 123042329 123042329 G C 352026 single nucleotide variant NM_001167.3(XIAP):c.*1940T>C 755490620 MedGen:CN201619,Orphanet:ORPHA238510 X 123909121 123909121 T C 352026 single nucleotide variant NM_001167.3(XIAP):c.*1940T>C 755490620 MedGen:CN201619,Orphanet:ORPHA238510 X 123042971 123042971 T C 352027 deletion NM_001167.3(XIAP):c.*2296_*2300delATAGT 79291374 MedGen:CN201619,Orphanet:ORPHA238510 X 123909477 123909481 ATAGT - 352027 deletion NM_001167.3(XIAP):c.*2296_*2300delATAGT 79291374 MedGen:CN201619,Orphanet:ORPHA238510 X 123043327 123043331 ATAGT - 352028 single nucleotide variant NM_001167.3(XIAP):c.*2622G>A 778277646 MedGen:CN201619,Orphanet:ORPHA238510 X 123043653 123043653 G A 352028 single nucleotide variant NM_001167.3(XIAP):c.*2622G>A 778277646 MedGen:CN201619,Orphanet:ORPHA238510 X 123909803 123909803 G A 352029 single nucleotide variant NM_001167.3(XIAP):c.*3201A>G 1057515752 MedGen:CN201619,Orphanet:ORPHA238510 X 123910382 123910382 A G 352029 single nucleotide variant NM_001167.3(XIAP):c.*3201A>G 1057515752 MedGen:CN201619,Orphanet:ORPHA238510 X 123044232 123044232 A G 352030 single nucleotide variant NM_001167.3(XIAP):c.*3573G>A 1057515753 MedGen:CN201619,Orphanet:ORPHA238510 X 123044604 123044604 G A 352030 single nucleotide variant NM_001167.3(XIAP):c.*3573G>A 1057515753 MedGen:CN201619,Orphanet:ORPHA238510 X 123910754 123910754 G A 352031 duplication NM_001167.3(XIAP):c.*3702dupA 1057515754 MedGen:CN201619,Orphanet:ORPHA238510 X 123044733 123044733 A AA 352031 duplication NM_001167.3(XIAP):c.*3702dupA 1057515754 MedGen:CN201619,Orphanet:ORPHA238510 X 123910883 123910883 A AA 352032 single nucleotide variant NM_001167.3(XIAP):c.*3707T>G 766102484 MedGen:CN201619,Orphanet:ORPHA238510 X 123044738 123044738 T G 352032 single nucleotide variant NM_001167.3(XIAP):c.*3707T>G 766102484 MedGen:CN201619,Orphanet:ORPHA238510 X 123910888 123910888 T G 352033 single nucleotide variant NM_001167.3(XIAP):c.*4078C>A 28382751 MedGen:CN201619,Orphanet:ORPHA238510 X 123911259 123911259 C A 352033 single nucleotide variant NM_001167.3(XIAP):c.*4078C>A 28382751 MedGen:CN201619,Orphanet:ORPHA238510 X 123045109 123045109 C A 352034 duplication NM_001167.3(XIAP):c.*4309dupA 397713705 MedGen:CN201619,Orphanet:ORPHA238510 X 123911490 123911490 A AA 352034 duplication NM_001167.3(XIAP):c.*4309dupA 397713705 MedGen:CN201619,Orphanet:ORPHA238510 X 123045340 123045340 A AA 352035 duplication NM_001167.3(XIAP):c.*5047dupA 397956758 MedGen:CN201619,Orphanet:ORPHA238510 X 123912228 123912228 A AA 352035 duplication NM_001167.3(XIAP):c.*5047dupA 397956758 MedGen:CN201619,Orphanet:ORPHA238510 X 123046078 123046078 A AA 352036 single nucleotide variant NM_001167.3(XIAP):c.*5506T>A 201236246 MedGen:CN201619,Orphanet:ORPHA238510 X 123912687 123912687 T A 352036 single nucleotide variant NM_001167.3(XIAP):c.*5506T>A 201236246 MedGen:CN201619,Orphanet:ORPHA238510 X 123046537 123046537 T A 352037 single nucleotide variant NM_001167.3(XIAP):c.*5796C>T 745822519 MedGen:CN201619,Orphanet:ORPHA238510 X 123912977 123912977 C T 352037 single nucleotide variant NM_001167.3(XIAP):c.*5796C>T 745822519 MedGen:CN201619,Orphanet:ORPHA238510 X 123046827 123046827 C T 352038 single nucleotide variant NM_001167.3(XIAP):c.*5892T>G 6648556 MedGen:CN201619,Orphanet:ORPHA238510 X 123913073 123913073 T G 352038 single nucleotide variant NM_001167.3(XIAP):c.*5892T>G 6648556 MedGen:CN201619,Orphanet:ORPHA238510 X 123046923 123046923 T G 352039 single nucleotide variant NM_001167.3(XIAP):c.*6549C>T 193060081 MedGen:CN201619,Orphanet:ORPHA238510 X 123047580 123047580 C T 352039 single nucleotide variant NM_001167.3(XIAP):c.*6549C>T 193060081 MedGen:CN201619,Orphanet:ORPHA238510 X 123913730 123913730 C T 352727 single nucleotide variant NM_001167.3(XIAP):c.*1393G>A 28382744 MedGen:CN201619,Orphanet:ORPHA238510 X 123042424 123042424 G A 352725 single nucleotide variant NM_001167.3(XIAP):c.1100A>G (p.Asp367Gly) 200273554 MedGen:CN201619,Orphanet:ORPHA238510 X 123900493 123900493 A G 352725 single nucleotide variant NM_001167.3(XIAP):c.1100A>G (p.Asp367Gly) 200273554 MedGen:CN201619,Orphanet:ORPHA238510 X 123034343 123034343 A G 352726 single nucleotide variant NM_001167.3(XIAP):c.*12A>G 28382740 MedGen:CN201619,Orphanet:ORPHA238510 X 123907193 123907193 A G 352726 single nucleotide variant NM_001167.3(XIAP):c.*12A>G 28382740 MedGen:CN201619,Orphanet:ORPHA238510 X 123041043 123041043 A G 352727 single nucleotide variant NM_001167.3(XIAP):c.*1393G>A 28382744 MedGen:CN201619,Orphanet:ORPHA238510 X 123908574 123908574 G A 352728 single nucleotide variant NM_001167.3(XIAP):c.*1676T>C 17334746 MedGen:CN201619,Orphanet:ORPHA238510 X 123908857 123908857 T C 352728 single nucleotide variant NM_001167.3(XIAP):c.*1676T>C 17334746 MedGen:CN201619,Orphanet:ORPHA238510 X 123042707 123042707 T C 352729 single nucleotide variant NM_001167.3(XIAP):c.*2521A>G 746553843 MedGen:CN201619,Orphanet:ORPHA238510 X 123909702 123909702 A G 352729 single nucleotide variant NM_001167.3(XIAP):c.*2521A>G 746553843 MedGen:CN201619,Orphanet:ORPHA238510 X 123043552 123043552 A G 352730 single nucleotide variant NM_001167.3(XIAP):c.*2674A>C 17330637 MedGen:CN201619,Orphanet:ORPHA238510 X 123043705 123043705 A C 352730 single nucleotide variant NM_001167.3(XIAP):c.*2674A>C 17330637 MedGen:CN201619,Orphanet:ORPHA238510 X 123909855 123909855 A C 352731 single nucleotide variant NM_001167.3(XIAP):c.*2729C>G 745491539 MedGen:CN201619,Orphanet:ORPHA238510 X 123043760 123043760 C G 352731 single nucleotide variant NM_001167.3(XIAP):c.*2729C>G 745491539 MedGen:CN201619,Orphanet:ORPHA238510 X 123909910 123909910 C G 352732 single nucleotide variant NM_001167.3(XIAP):c.*3040G>A 187400208 MedGen:CN201619,Orphanet:ORPHA238510 X 123044071 123044071 G A 352732 single nucleotide variant NM_001167.3(XIAP):c.*3040G>A 187400208 MedGen:CN201619,Orphanet:ORPHA238510 X 123910221 123910221 G A 352733 single nucleotide variant NM_001167.3(XIAP):c.*3642T>G 28382747 MedGen:CN201619,Orphanet:ORPHA238510 X 123044673 123044673 T G 352733 single nucleotide variant NM_001167.3(XIAP):c.*3642T>G 28382747 MedGen:CN201619,Orphanet:ORPHA238510 X 123910823 123910823 T G 352734 single nucleotide variant NM_001167.3(XIAP):c.*4024C>T 28382750 MedGen:CN201619,Orphanet:ORPHA238510 X 123911205 123911205 C T 352734 single nucleotide variant NM_001167.3(XIAP):c.*4024C>T 28382750 MedGen:CN201619,Orphanet:ORPHA238510 X 123045055 123045055 C T 352735 single nucleotide variant NM_001167.3(XIAP):c.*4188T>C 28382752 MedGen:CN201619,Orphanet:ORPHA238510 X 123911369 123911369 T C 352735 single nucleotide variant NM_001167.3(XIAP):c.*4188T>C 28382752 MedGen:CN201619,Orphanet:ORPHA238510 X 123045219 123045219 T C 352736 single nucleotide variant NM_001167.3(XIAP):c.*4380G>A 181285458 MedGen:CN201619,Orphanet:ORPHA238510 X 123911561 123911561 G A 352736 single nucleotide variant NM_001167.3(XIAP):c.*4380G>A 181285458 MedGen:CN201619,Orphanet:ORPHA238510 X 123045411 123045411 G A 352737 insertion NM_001167.3(XIAP):c.*5034_*5035insAAA 1057515756 MedGen:CN201619,Orphanet:ORPHA238510 X 123912215 123912216 - AAA 352737 insertion NM_001167.3(XIAP):c.*5034_*5035insAAA 1057515756 MedGen:CN201619,Orphanet:ORPHA238510 X 123046065 123046066 - AAA 352738 deletion NM_001167.3(XIAP):c.*5047delA 368295939 MedGen:CN201619,Orphanet:ORPHA238510 X 123912228 123912228 A - 352738 deletion NM_001167.3(XIAP):c.*5047delA 368295939 MedGen:CN201619,Orphanet:ORPHA238510 X 123046078 123046078 A - 352739 deletion NM_001167.3(XIAP):c.*5070delA 1057515757 MedGen:CN201619,Orphanet:ORPHA238510 X 123912251 123912251 A - 352739 deletion NM_001167.3(XIAP):c.*5070delA 1057515757 MedGen:CN201619,Orphanet:ORPHA238510 X 123046101 123046101 A - 352740 deletion NM_001167.3(XIAP):c.*5180delA 60841987 MedGen:CN201619,Orphanet:ORPHA238510 X 123912361 123912361 A - 352740 deletion NM_001167.3(XIAP):c.*5180delA 60841987 MedGen:CN201619,Orphanet:ORPHA238510 X 123046211 123046211 A - 352741 single nucleotide variant NM_001167.3(XIAP):c.*5241A>T 5958343 MedGen:CN201619,Orphanet:ORPHA238510 X 123912422 123912422 A T 352741 single nucleotide variant NM_001167.3(XIAP):c.*5241A>T 5958343 MedGen:CN201619,Orphanet:ORPHA238510 X 123046272 123046272 A T 352742 deletion NM_001167.3(XIAP):c.*5505delG 111508332 MedGen:CN201619,Orphanet:ORPHA238510 X 123912686 123912686 G - 352742 deletion NM_001167.3(XIAP):c.*5505delG 111508332 MedGen:CN201619,Orphanet:ORPHA238510 X 123046536 123046536 G - 352743 deletion NM_001167.3(XIAP):c.*6572_*6575delCTGA 1057515761 MedGen:CN201619,Orphanet:ORPHA238510 X 123047603 123047606 CTGA - 352743 deletion NM_001167.3(XIAP):c.*6572_*6575delCTGA 1057515761 MedGen:CN201619,Orphanet:ORPHA238510 X 123913753 123913756 CTGA -

Disease associated variation - GWAS Central Study Name Source Marker Accession Chromosome Marker Start Marker Stop Alleles Gene Section P-value -log(p-value) GWAS of prostate cancer rs10521711 X 123047926 123047926 downstream 0.178614 0.748084503541221

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000101966.12 XIAP 300079