NM_147686.4(TRAF3IP2):c.1377C>T (p.Ile459=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000545441]|not provided [RCV003424137] |
Chr6:111566543 [GRCh38] Chr6:111887746 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.28G>A (p.Asp10Asn) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001514434]|Psoriasis 13, susceptibility to [RCV000023605]|not provided [RCV001824574]|not specified [RCV000455845] |
Chr6:111592059 [GRCh38] Chr6:111913262 [GRCh37] Chr6:6q21 |
risk factor|benign|not provided |
NM_147686.4(TRAF3IP2):c.560_561delinsAT (p.Arg187His) |
indel |
Candidiasis, familial, 8 [RCV002001784] |
Chr6:111591526..111591527 [GRCh38] Chr6:111912729..111912730 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1291-14C>G |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002207431] |
Chr6:111567706 [GRCh38] Chr6:111888909 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1580C>T (p.Thr527Ile) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000074416] |
Chr6:111559523 [GRCh38] Chr6:111880726 [GRCh37] Chr6:6q21 |
pathogenic |
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 |
copy number loss |
See cases [RCV000051196] |
Chr6:108944899..132067720 [GRCh38] Chr6:109266102..132388860 [GRCh37] Chr6:109372795..132430553 [NCBI36] Chr6:6q21-23.2 |
pathogenic |
GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1 |
copy number loss |
See cases [RCV000138006] |
Chr6:107370141..115827482 [GRCh38] Chr6:107691345..116148646 [GRCh37] Chr6:107798038..116255339 [NCBI36] Chr6:6q21-22.1 |
pathogenic |
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 |
copy number gain |
See cases [RCV000139729] |
Chr6:74382807..142040500 [GRCh38] Chr6:75092523..142361637 [GRCh37] Chr6:75149243..142403330 [NCBI36] Chr6:6q13-24.1 |
pathogenic |
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 |
copy number loss |
See cases [RCV000139465] |
Chr6:96609994..122161548 [GRCh38] Chr6:97057870..122482694 [GRCh37] Chr6:97164591..122524393 [NCBI36] Chr6:6q16.1-22.31 |
pathogenic |
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 |
copy number loss |
See cases [RCV000141587] |
Chr6:106503719..125781219 [GRCh38] Chr6:106951594..126102365 [GRCh37] Chr6:107058287..126144058 [NCBI36] Chr6:6q21-22.31 |
pathogenic |
GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1 |
copy number loss |
See cases [RCV000142287] |
Chr6:103279465..113934239 [GRCh38] Chr6:103727340..114255403 [GRCh37] Chr6:103834033..114362096 [NCBI36] Chr6:6q16.3-21 |
pathogenic |
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 |
copy number loss |
See cases [RCV000143227] |
Chr6:100054889..120488154 [GRCh38] Chr6:100502765..120809300 [GRCh37] Chr6:100609486..120850999 [NCBI36] Chr6:6q16.3-22.31 |
pathogenic |
NM_147686.4(TRAF3IP2):c.233G>A (p.Arg78Gln) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000545808] |
Chr6:111591854 [GRCh38] Chr6:111913057 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1614C>T (p.Asn538=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000553343] |
Chr6:111559489 [GRCh38] Chr6:111880692 [GRCh37] Chr6:6q21 |
benign |
NM_147686.4(TRAF3IP2):c.819C>G (p.His273Gln) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000768344]|Psoriasis 13, susceptibility to [RCV002061038] |
Chr6:111591268 [GRCh38] Chr6:111912471 [GRCh37] Chr6:6q21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_147686.4(TRAF3IP2):c.1286C>A (p.Thr429Asn) |
single nucleotide variant |
Discoid lupus erythematosus [RCV001002673] |
Chr6:111572899 [GRCh38] Chr6:111894102 [GRCh37] Chr6:6q21 |
pathogenic |
GRCh37/hg19 6q21(chr6:109564793-112223595)x1 |
copy number loss |
See cases [RCV000447293] |
Chr6:109564793..112223595 [GRCh37] Chr6:6q21 |
uncertain significance |
GRCh37/hg19 6q21(chr6:111876945-112035699)x3 |
copy number gain |
See cases [RCV000446558] |
Chr6:111876945..112035699 [GRCh37] Chr6:6q21 |
uncertain significance |
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 |
copy number loss |
See cases [RCV000445666] |
Chr6:85988428..120548687 [GRCh37] Chr6:6q14.3-22.31 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 |
copy number gain |
See cases [RCV000512067] |
Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
NM_147686.4(TRAF3IP2):c.969C>A (p.His323Gln) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001515713]|not provided [RCV001824782]|not specified [RCV000454545] |
Chr6:111580250 [GRCh38] Chr6:111901453 [GRCh37] Chr6:6q21 |
benign|not provided |
NM_147686.4(TRAF3IP2):c.220C>T (p.Arg74Trp) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001512360]|not provided [RCV001824783]|not specified [RCV000455212] |
Chr6:111591867 [GRCh38] Chr6:111913070 [GRCh37] Chr6:6q21 |
benign|not provided |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) |
copy number gain |
See cases [RCV000510595] |
Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
NM_147686.4(TRAF3IP2):c.649C>A (p.Pro217Thr) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000533320]|not provided [RCV004721437] |
Chr6:111591438 [GRCh38] Chr6:111912641 [GRCh37] Chr6:6q21 |
benign|likely benign |
NM_147686.4(TRAF3IP2):c.350C>A (p.Ala117Glu) |
single nucleotide variant |
not specified [RCV004315786] |
Chr6:111591737 [GRCh38] Chr6:111912940 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1249A>G (p.Lys417Glu) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000651298] |
Chr6:111572936 [GRCh38] Chr6:111894139 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.758C>G (p.Pro253Arg) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000651299] |
Chr6:111591329 [GRCh38] Chr6:111912532 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.508T>A (p.Ser170Thr) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000651300] |
Chr6:111591579 [GRCh38] Chr6:111912782 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.281G>A (p.Ser94Asn) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000651301]|Psoriasis 13, susceptibility to [RCV003224369]|not provided [RCV001700441] |
Chr6:111591806 [GRCh38] Chr6:111913009 [GRCh37] Chr6:6q21 |
benign|likely benign |
NM_147686.4(TRAF3IP2):c.957C>A (p.Ser319Arg) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000651302]|TRAF3IP2-related disorder [RCV003928119] |
Chr6:111580262 [GRCh38] Chr6:111901465 [GRCh37] Chr6:6q21 |
benign |
NM_147686.4(TRAF3IP2):c.1184A>G (p.Asn395Ser) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000651303]|TRAF3IP2-related disorder [RCV003937974]|not provided [RCV001529805] |
Chr6:111575660 [GRCh38] Chr6:111896863 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.99ACC[3] (p.Pro35dup) |
microsatellite |
Candidiasis, familial, 8 [RCV000651304] |
Chr6:111591982..111591983 [GRCh38] Chr6:111913185..111913186 [GRCh37] Chr6:6q21 |
benign |
GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1 |
copy number loss |
not provided [RCV000682693] |
Chr6:95549951..116684929 [GRCh37] Chr6:6q16.1-22.1 |
pathogenic |
NM_147686.4(TRAF3IP2):c.1058G>A (p.Gly353Asp) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000687613]|not specified [RCV004026270] |
Chr6:111575786 [GRCh38] Chr6:111896989 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.982G>A (p.Ala328Thr) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000692682]|not specified [RCV004025126] |
Chr6:111580237 [GRCh38] Chr6:111901440 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.760A>G (p.Asn254Asp) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000690066] |
Chr6:111591327 [GRCh38] Chr6:111912530 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1681C>T (p.Gln561Ter) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000706524] |
Chr6:111559422 [GRCh38] Chr6:111880625 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.410G>A (p.Arg137His) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000697201] |
Chr6:111591677 [GRCh38] Chr6:111912880 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.691C>T (p.Leu231Phe) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000695239] |
Chr6:111591396 [GRCh38] Chr6:111912599 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1022+3A>G |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000699178] |
Chr6:111580194 [GRCh38] Chr6:111901397 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.237G>C (p.Gln79His) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000705519] |
Chr6:111591850 [GRCh38] Chr6:111913053 [GRCh37] Chr6:6q21 |
likely benign|uncertain significance |
NM_147686.4(TRAF3IP2):c.767C>G (p.Ser256Cys) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000691406] |
Chr6:111591320 [GRCh38] Chr6:111912523 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1058G>C (p.Gly353Ala) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000696808] |
Chr6:111575786 [GRCh38] Chr6:111896989 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1552G>T (p.Glu518Ter) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000686611] |
Chr6:111559551 [GRCh38] Chr6:111880754 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.521G>A (p.Ser174Asn) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000686960] |
Chr6:111591566 [GRCh38] Chr6:111912769 [GRCh37] Chr6:6q21 |
uncertain significance |
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 |
copy number gain |
not provided [RCV000745403] |
Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 |
copy number gain |
not provided [RCV000745400] |
Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 |
copy number gain |
not provided [RCV000745404] |
Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6q21(chr6:111876985-111924913)x3 |
copy number gain |
not provided [RCV000745975] |
Chr6:111876985..111924913 [GRCh37] Chr6:6q21 |
benign |
NM_147686.4(TRAF3IP2):c.1275T>C (p.Asn425=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003581740] |
Chr6:111572910 [GRCh38] Chr6:111894113 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1020C>T (p.His340=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000948741]|TRAF3IP2-related disorder [RCV003903182] |
Chr6:111580199 [GRCh38] Chr6:111901402 [GRCh37] Chr6:6q21 |
benign|likely benign |
NM_147686.4(TRAF3IP2):c.191A>C (p.His64Pro) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000946966] |
Chr6:111591896 [GRCh38] Chr6:111913099 [GRCh37] Chr6:6q21 |
benign |
NM_147686.4(TRAF3IP2):c.88G>A (p.Glu30Lys) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001055787] |
Chr6:111591999 [GRCh38] Chr6:111913202 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.761A>G (p.Asn254Ser) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001061602] |
Chr6:111591326 [GRCh38] Chr6:111912529 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.704A>C (p.Glu235Ala) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001058573] |
Chr6:111591383 [GRCh38] Chr6:111912586 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1328T>C (p.Ile443Thr) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001070161] |
Chr6:111567655 [GRCh38] Chr6:111888858 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1119G>A (p.Pro373=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000893507] |
Chr6:111575725 [GRCh38] Chr6:111896928 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1524C>T (p.Ile508=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000978556] |
Chr6:111562992 [GRCh38] Chr6:111884195 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.773A>G (p.His258Arg) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000819145] |
Chr6:111591314 [GRCh38] Chr6:111912517 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.16C>G (p.Pro6Ala) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000821133] |
Chr6:111592071 [GRCh38] Chr6:111913274 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1044_1084del (p.Pro349fs) |
deletion |
Candidiasis, familial, 8 [RCV000814831] |
Chr6:111575760..111575800 [GRCh38] Chr6:111896963..111897003 [GRCh37] Chr6:6q21 |
pathogenic|uncertain significance |
NM_147686.4(TRAF3IP2):c.232C>G (p.Arg78Gly) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000893482]|TRAF3IP2-related disorder [RCV003957997] |
Chr6:111591855 [GRCh38] Chr6:111913058 [GRCh37] Chr6:6q21 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_147686.4(TRAF3IP2):c.641G>A (p.Arg214Lys) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000808177] |
Chr6:111591446 [GRCh38] Chr6:111912649 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.109C>T (p.Pro37Ser) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000804425]|not specified [RCV004028174] |
Chr6:111591978 [GRCh38] Chr6:111913181 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.221G>A (p.Arg74Gln) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000805442] |
Chr6:111591866 [GRCh38] Chr6:111913069 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.560G>A (p.Arg187Gln) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000816302] |
Chr6:111591527 [GRCh38] Chr6:111912730 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1378G>A (p.Val460Ile) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001066765]|not specified [RCV004030625] |
Chr6:111566542 [GRCh38] Chr6:111887745 [GRCh37] Chr6:6q21 |
uncertain significance |
GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1 |
copy number loss |
not provided [RCV000848701] |
Chr6:110981075..119608396 [GRCh37] Chr6:6q21-22.31 |
pathogenic |
NM_147686.4(TRAF3IP2):c.691C>G (p.Leu231Val) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001230856]|not specified [RCV004033108] |
Chr6:111591396 [GRCh38] Chr6:111912599 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.54G>T (p.Gln18His) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001225701]|not specified [RCV004032548] |
Chr6:111592033 [GRCh38] Chr6:111913236 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.625A>C (p.Ile209Leu) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001208750] |
Chr6:111591462 [GRCh38] Chr6:111912665 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1396T>A (p.Tyr466Asn) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001222070] |
Chr6:111566524 [GRCh38] Chr6:111887727 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.518G>A (p.Gly173Asp) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001214335] |
Chr6:111591569 [GRCh38] Chr6:111912772 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.233G>T (p.Arg78Leu) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001242090] |
Chr6:111591854 [GRCh38] Chr6:111913057 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.7C>T (p.Arg3Ter) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003106690] |
Chr6:111592080 [GRCh38] Chr6:111913283 [GRCh37] Chr6:6q21 |
pathogenic |
NM_147686.4(TRAF3IP2):c.1613dup (p.Asn538fs) |
duplication |
Candidiasis, familial, 8 [RCV001907612] |
Chr6:111559489..111559490 [GRCh38] Chr6:111880692..111880693 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1365C>T (p.Thr455=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001509935] |
Chr6:111566555 [GRCh38] Chr6:111887758 [GRCh37] Chr6:6q21 |
benign |
NM_147686.4(TRAF3IP2):c.1344G>A (p.Glu448=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002065579] |
Chr6:111567639 [GRCh38] Chr6:111888842 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.981C>T (p.Pro327=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000910724]|not provided [RCV003424467] |
Chr6:111580238 [GRCh38] Chr6:111901441 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.83C>G (p.Pro28Arg) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000948315] |
Chr6:111592004 [GRCh38] Chr6:111913207 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1221T>C (p.Tyr407=) |
single nucleotide variant |
TRAF3IP2-related disorder [RCV003895712]|not provided [RCV000939703] |
Chr6:111572964 [GRCh38] Chr6:111894167 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1224G>A (p.Ser408=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001451249] |
Chr6:111572961 [GRCh38] Chr6:111894164 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1233A>T (p.Thr411=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000910890] |
Chr6:111572952 [GRCh38] Chr6:111894155 [GRCh37] Chr6:6q21 |
benign |
NM_147686.4(TRAF3IP2):c.1583A>G (p.His528Arg) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV000887808] |
Chr6:111559520 [GRCh38] Chr6:111880723 [GRCh37] Chr6:6q21 |
benign |
NM_147686.4(TRAF3IP2):c.736G>A (p.Ala246Thr) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001203333] |
Chr6:111591351 [GRCh38] Chr6:111912554 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1435G>A (p.Glu479Lys) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001248396] |
Chr6:111566485 [GRCh38] Chr6:111887688 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1291-5del |
deletion |
Candidiasis, familial, 8 [RCV003744671] |
Chr6:111567697 [GRCh38] Chr6:111888900 [GRCh37] Chr6:6q21 |
benign |
GRCh37/hg19 6q21(chr6:111198703-111878472)x3 |
copy number gain |
not provided [RCV002473604] |
Chr6:111198703..111878472 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.661G>A (p.Val221Met) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001045218]|not specified [RCV004031388] |
Chr6:111591426 [GRCh38] Chr6:111912629 [GRCh37] Chr6:6q21 |
uncertain significance |
NC_000006.12:g.(?_111559385)_(111592106_?)dup |
duplication |
Candidiasis, familial, 8 [RCV001032839] |
Chr6:111880588..111913309 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1360-9C>G |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001236268] |
Chr6:111566569 [GRCh38] Chr6:111887772 [GRCh37] Chr6:6q21 |
uncertain significance |
GRCh37/hg19 6q21(chr6:109564694-112232351)x1 |
copy number loss |
not provided [RCV001007557] |
Chr6:109564694..112232351 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1507A>G (p.Met503Val) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001064632] |
Chr6:111563009 [GRCh38] Chr6:111884212 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1345C>T (p.Arg449Cys) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001216200] |
Chr6:111567638 [GRCh38] Chr6:111888841 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1082G>A (p.Cys361Tyr) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001062539] |
Chr6:111575762 [GRCh38] Chr6:111896965 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.6C>A (p.Asn2Lys) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001056773] |
Chr6:111592081 [GRCh38] Chr6:111913284 [GRCh37] Chr6:6q21 |
uncertain significance |
GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3 |
copy number gain |
Microcephaly [RCV001251053] |
Chr6:101296547..117004249 [GRCh37] Chr6:6q16.3-22.1 |
pathogenic |
GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1 |
copy number loss |
Deletion 6q16 q21 [RCV001263224] |
Chr6:98949950..114533905 [GRCh37] Chr6:6q16.1-21 |
pathogenic |
NM_147686.4(TRAF3IP2):c.531G>A (p.Met177Ile) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001324603] |
Chr6:111591556 [GRCh38] Chr6:111912759 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.583A>G (p.Ile195Val) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001306166] |
Chr6:111591504 [GRCh38] Chr6:111912707 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1552-6C>A |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001303048] |
Chr6:111559557 [GRCh38] Chr6:111880760 [GRCh37] Chr6:6q21 |
likely benign|uncertain significance |
NM_147686.4(TRAF3IP2):c.1440T>G (p.Asp480Glu) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001343409] |
Chr6:111566480 [GRCh38] Chr6:111887683 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1193A>C (p.Glu398Ala) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001316296] |
Chr6:111575651 [GRCh38] Chr6:111896854 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1222del (p.Ser408fs) |
deletion |
Candidiasis, familial, 8 [RCV001362447] |
Chr6:111572963 [GRCh38] Chr6:111894166 [GRCh37] Chr6:6q21 |
pathogenic|uncertain significance |
NM_147686.4(TRAF3IP2):c.1063C>G (p.Pro355Ala) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001322761] |
Chr6:111575781 [GRCh38] Chr6:111896984 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.764T>C (p.Leu255Pro) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001364649] |
Chr6:111591323 [GRCh38] Chr6:111912526 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.107C>T (p.Ala36Val) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001364688] |
Chr6:111591980 [GRCh38] Chr6:111913183 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.542C>T (p.Pro181Leu) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001318439] |
Chr6:111591545 [GRCh38] Chr6:111912748 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.878C>G (p.Ala293Gly) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001346522] |
Chr6:111580341 [GRCh38] Chr6:111901544 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.172G>A (p.Gly58Arg) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001365142] |
Chr6:111591915 [GRCh38] Chr6:111913118 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.566G>A (p.Gly189Asp) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001306758] |
Chr6:111591521 [GRCh38] Chr6:111912724 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.580A>G (p.Thr194Ala) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001343912] |
Chr6:111591507 [GRCh38] Chr6:111912710 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.343G>A (p.Glu115Lys) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001305646]|not specified [RCV004036361] |
Chr6:111591744 [GRCh38] Chr6:111912947 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1121C>A (p.Ser374Tyr) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001320527] |
Chr6:111575723 [GRCh38] Chr6:111896926 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.822G>C (p.Gln274His) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001345364] |
Chr6:111591265 [GRCh38] Chr6:111912468 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.409C>T (p.Arg137Cys) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001345369] |
Chr6:111591678 [GRCh38] Chr6:111912881 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.497C>T (p.Ala166Val) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001347938] |
Chr6:111591590 [GRCh38] Chr6:111912793 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.926_1022+148delinsTGACCTGAAAAGTCTATATTGGGCATTCCACTATGTGACTTGCTCACTAACGTGGGTTAGCAAACCTATAGAGAATTCTGTTACATCTTCATTGCATTGGCATAATTCCTTTCCATGTTAAAAATGCCTGAAGGTTGGGCCTGTCATACTTACTGGTGCCTTGGAAGCCCCGGAAAGGAGCAGTCTCTCTGTGCGGGCCTCTCTTCGTGGTCCCAGGGGCTGGGATAATTCAGGATAACCTTCTGCACAG |
indel |
Candidiasis, familial, 8 [RCV001339332] |
Chr6:111580049..111580293 [GRCh38] Chr6:111901252..111901496 [GRCh37] Chr6:6q21 |
pathogenic|uncertain significance |
NM_147686.4(TRAF3IP2):c.373C>T (p.Leu125Phe) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001350096] |
Chr6:111591714 [GRCh38] Chr6:111912917 [GRCh37] Chr6:6q21 |
uncertain significance |
GRCh37/hg19 6q21(chr6:109796301-113083437)x3 |
copy number gain |
See cases [RCV001353182] |
Chr6:109796301..113083437 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1089A>G (p.Ala363=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001421248] |
Chr6:111575755 [GRCh38] Chr6:111896958 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1417G>A (p.Ala473Thr) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001296520]|not specified [RCV004036036] |
Chr6:111566503 [GRCh38] Chr6:111887706 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.517G>A (p.Gly173Ser) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001312668] |
Chr6:111591570 [GRCh38] Chr6:111912773 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.516C>T (p.Gly172=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001494782] |
Chr6:111591571 [GRCh38] Chr6:111912774 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.312A>G (p.Lys104=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001421898] |
Chr6:111591775 [GRCh38] Chr6:111912978 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.993C>T (p.Asp331=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001502928] |
Chr6:111580226 [GRCh38] Chr6:111901429 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1291-13dup |
duplication |
Candidiasis, familial, 8 [RCV001517270] |
Chr6:111567696..111567697 [GRCh38] Chr6:111888899..111888900 [GRCh37] Chr6:6q21 |
benign |
NM_147686.4(TRAF3IP2):c.1692C>G (p.Pro564=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001397807] |
Chr6:111559411 [GRCh38] Chr6:111880614 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1291-8T>G |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001478343] |
Chr6:111567700 [GRCh38] Chr6:111888903 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1185T>C (p.Asn395=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001440796] |
Chr6:111575659 [GRCh38] Chr6:111896862 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.537A>G (p.Gln179=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001436604] |
Chr6:111591550 [GRCh38] Chr6:111912753 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.813C>T (p.Pro271=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001431488]|TRAF3IP2-related disorder [RCV003946129] |
Chr6:111591274 [GRCh38] Chr6:111912477 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.441G>A (p.Ala147=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001499271] |
Chr6:111591646 [GRCh38] Chr6:111912849 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1674C>A (p.Pro558=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001454231] |
Chr6:111559429 [GRCh38] Chr6:111880632 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.8G>A (p.Arg3Gln) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001405514] |
Chr6:111592079 [GRCh38] Chr6:111913282 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.507C>T (p.Asp169=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001485874] |
Chr6:111591580 [GRCh38] Chr6:111912783 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.171C>T (p.Ser57=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001443072] |
Chr6:111591916 [GRCh38] Chr6:111913119 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1551+14_1551+17del |
deletion |
Candidiasis, familial, 8 [RCV001443519] |
Chr6:111562948..111562951 [GRCh38] Chr6:111884151..111884154 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1575G>A (p.Gln525=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001504004] |
Chr6:111559528 [GRCh38] Chr6:111880731 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1201C>T (p.Arg401Trp) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002024953] |
Chr6:111575643 [GRCh38] Chr6:111896846 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1023-3T>C |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001988241] |
Chr6:111575824 [GRCh38] Chr6:111897027 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.749T>A (p.Met250Lys) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001891761] |
Chr6:111591338 [GRCh38] Chr6:111912541 [GRCh37] Chr6:6q21 |
uncertain significance |
GRCh37/hg19 6q15-22.2(chr6:92054891-118329651) |
copy number loss |
not specified [RCV002053598] |
Chr6:92054891..118329651 [GRCh37] Chr6:6q15-22.2 |
pathogenic |
GRCh37/hg19 6q21-22.1(chr6:110472732-114762836) |
copy number loss |
not specified [RCV002053609] |
Chr6:110472732..114762836 [GRCh37] Chr6:6q21-22.1 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1049A>G (p.Asn350Ser) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001910880] |
Chr6:111575795 [GRCh38] Chr6:111896998 [GRCh37] Chr6:6q21 |
uncertain significance |
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687) |
copy number loss |
not specified [RCV002053595] |
Chr6:85988428..120548687 [GRCh37] Chr6:6q14.3-22.31 |
pathogenic |
GRCh37/hg19 6q21(chr6:109564793-112223595) |
copy number loss |
not specified [RCV002053608] |
Chr6:109564793..112223595 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.385C>T (p.His129Tyr) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002005237] |
Chr6:111591702 [GRCh38] Chr6:111912905 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.167C>T (p.Ser56Phe) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001968062] |
Chr6:111591920 [GRCh38] Chr6:111913123 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1021C>G (p.Gln341Glu) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001903252] |
Chr6:111580198 [GRCh38] Chr6:111901401 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.83C>T (p.Pro28Leu) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001907468]|not specified [RCV004039767] |
Chr6:111592004 [GRCh38] Chr6:111913207 [GRCh37] Chr6:6q21 |
likely benign|uncertain significance |
NM_147686.4(TRAF3IP2):c.1564A>G (p.Thr522Ala) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001962774] |
Chr6:111559539 [GRCh38] Chr6:111880742 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.154A>G (p.Met52Val) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002013444] |
Chr6:111591933 [GRCh38] Chr6:111913136 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.814G>T (p.Asp272Tyr) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001954831] |
Chr6:111591273 [GRCh38] Chr6:111912476 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1457C>T (p.Thr486Ile) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001919937] |
Chr6:111566463 [GRCh38] Chr6:111887666 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.701G>C (p.Arg234Thr) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001922376] |
Chr6:111591386 [GRCh38] Chr6:111912589 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.515G>A (p.Gly172Asp) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001918091] |
Chr6:111591572 [GRCh38] Chr6:111912775 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.476C>T (p.Ser159Leu) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001898587] |
Chr6:111591611 [GRCh38] Chr6:111912814 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1574A>G (p.Gln525Arg) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001919727] |
Chr6:111559529 [GRCh38] Chr6:111880732 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.868A>G (p.Ile290Val) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001922861]|not specified [RCV004681303] |
Chr6:111580351 [GRCh38] Chr6:111901554 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1126G>A (p.Ala376Thr) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002050104] |
Chr6:111575718 [GRCh38] Chr6:111896921 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.874C>A (p.Pro292Thr) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001935692] |
Chr6:111580345 [GRCh38] Chr6:111901548 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.454A>T (p.Thr152Ser) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001960097] |
Chr6:111591633 [GRCh38] Chr6:111912836 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.676G>C (p.Asp226His) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002034122] |
Chr6:111591411 [GRCh38] Chr6:111912614 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1408G>A (p.Val470Met) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001884594] |
Chr6:111566512 [GRCh38] Chr6:111887715 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1472G>A (p.Arg491Gln) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV001980745] |
Chr6:111566448 [GRCh38] Chr6:111887651 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.766T>C (p.Ser256Pro) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002011941] |
Chr6:111591321 [GRCh38] Chr6:111912524 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.936G>A (p.Lys312=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002189228] |
Chr6:111580283 [GRCh38] Chr6:111901486 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1023-4C>G |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002087057] |
Chr6:111575825 [GRCh38] Chr6:111897028 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1201+12G>C |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002205729] |
Chr6:111575631 [GRCh38] Chr6:111896834 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1290+15C>T |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002130328] |
Chr6:111572880 [GRCh38] Chr6:111894083 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.438A>G (p.Ser146=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002090973] |
Chr6:111591649 [GRCh38] Chr6:111912852 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1022+7A>G |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002206135] |
Chr6:111580190 [GRCh38] Chr6:111901393 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.591G>A (p.Thr197=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002212922] |
Chr6:111591496 [GRCh38] Chr6:111912699 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.869T>G (p.Ile290Ser) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003093836]|Psoriasis 13, susceptibility to [RCV002210904]|not specified [RCV004047185] |
Chr6:111580350 [GRCh38] Chr6:111901553 [GRCh37] Chr6:6q21 |
pathogenic|uncertain significance |
NM_147686.4(TRAF3IP2):c.1551+10_1551+13del |
microsatellite |
Candidiasis, familial, 8 [RCV002114133] |
Chr6:111562952..111562955 [GRCh38] Chr6:111884155..111884158 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1551+17del |
deletion |
Candidiasis, familial, 8 [RCV002093071] |
Chr6:111562948 [GRCh38] Chr6:111884151 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.906C>T (p.Ala302=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002173320] |
Chr6:111580313 [GRCh38] Chr6:111901516 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.830-14G>A |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002135851] |
Chr6:111580403 [GRCh38] Chr6:111901606 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1360-13C>G |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002175499] |
Chr6:111566573 [GRCh38] Chr6:111887776 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.672C>G (p.Pro224=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002083783] |
Chr6:111591415 [GRCh38] Chr6:111912618 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.829+7G>A |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002160729] |
Chr6:111591251 [GRCh38] Chr6:111912454 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1551+14G>C |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002162778] |
Chr6:111562951 [GRCh38] Chr6:111884154 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.444T>C (p.Ala148=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002181012] |
Chr6:111591643 [GRCh38] Chr6:111912846 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1202-16A>G |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002198005] |
Chr6:111572999 [GRCh38] Chr6:111894202 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1008G>A (p.Gly336=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002136048] |
Chr6:111580211 [GRCh38] Chr6:111901414 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1266G>A (p.Leu422=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002162361] |
Chr6:111572919 [GRCh38] Chr6:111894122 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.570G>A (p.Leu190=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002157362] |
Chr6:111591517 [GRCh38] Chr6:111912720 [GRCh37] Chr6:6q21 |
likely benign |
NC_000006.11:g.(?_111901380)_(111913289_?)dup |
duplication |
Candidiasis, familial, 8 [RCV003113678] |
Chr6:111901380..111913289 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.251G>A (p.Arg84His) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003115348] |
Chr6:111591836 [GRCh38] Chr6:111913039 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.854C>A (p.Ala285Asp) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002296505] |
Chr6:111580365 [GRCh38] Chr6:111901568 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.43T>G (p.Tyr15Asp) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002296166] |
Chr6:111592044 [GRCh38] Chr6:111913247 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1345C>A (p.Arg449Ser) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003074410] |
Chr6:111567638 [GRCh38] Chr6:111888841 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.207T>C (p.Leu69=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002858216] |
Chr6:111591880 [GRCh38] Chr6:111913083 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1424C>T (p.Ser475Leu) |
single nucleotide variant |
not specified [RCV004107621] |
Chr6:111566496 [GRCh38] Chr6:111887699 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1346G>A (p.Arg449His) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003099091] |
Chr6:111567637 [GRCh38] Chr6:111888840 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1004C>T (p.Pro335Leu) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002614880] |
Chr6:111580215 [GRCh38] Chr6:111901418 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1071G>A (p.Glu357=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002756530] |
Chr6:111575773 [GRCh38] Chr6:111896976 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.608C>T (p.Pro203Leu) |
single nucleotide variant |
not specified [RCV004156990] |
Chr6:111591479 [GRCh38] Chr6:111912682 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1290+1_1290+2del |
deletion |
Candidiasis, familial, 8 [RCV002967903] |
Chr6:111572893..111572894 [GRCh38] Chr6:111894096..111894097 [GRCh37] Chr6:6q21 |
likely pathogenic |
NM_147686.4(TRAF3IP2):c.700A>C (p.Arg234=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002881163] |
Chr6:111591387 [GRCh38] Chr6:111912590 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.72A>G (p.Pro24=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002866429] |
Chr6:111592015 [GRCh38] Chr6:111913218 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.724C>T (p.Gln242Ter) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002889351] |
Chr6:111591363 [GRCh38] Chr6:111912566 [GRCh37] Chr6:6q21 |
pathogenic |
NM_147686.4(TRAF3IP2):c.135C>G (p.Asn45Lys) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002663153]|not specified [RCV004066780] |
Chr6:111591952 [GRCh38] Chr6:111913155 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.811C>T (p.Pro271Ser) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003038574] |
Chr6:111591276 [GRCh38] Chr6:111912479 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1434C>T (p.Asp478=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003002850] |
Chr6:111566486 [GRCh38] Chr6:111887689 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.440C>T (p.Ala147Val) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002923745]|not specified [RCV004067311] |
Chr6:111591647 [GRCh38] Chr6:111912850 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.133A>G (p.Asn45Asp) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002590631] |
Chr6:111591954 [GRCh38] Chr6:111913157 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1407C>T (p.Asp469=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002976611] |
Chr6:111566513 [GRCh38] Chr6:111887716 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1597C>T (p.Pro533Ser) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002569812] |
Chr6:111559506 [GRCh38] Chr6:111880709 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.152C>T (p.Thr51Ile) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002735469] |
Chr6:111591935 [GRCh38] Chr6:111913138 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1064C>T (p.Pro355Leu) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002795483] |
Chr6:111575780 [GRCh38] Chr6:111896983 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.826C>A (p.Pro276Thr) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002979929] |
Chr6:111591261 [GRCh38] Chr6:111912464 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.893C>A (p.Pro298His) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002592930] |
Chr6:111580326 [GRCh38] Chr6:111901529 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.342C>T (p.Ser114=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002569575] |
Chr6:111591745 [GRCh38] Chr6:111912948 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.934_936del (p.Lys312del) |
deletion |
Candidiasis, familial, 8 [RCV002639220] |
Chr6:111580283..111580285 [GRCh38] Chr6:111901486..111901488 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1686G>T (p.Val562=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002847057] |
Chr6:111559417 [GRCh38] Chr6:111880620 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.349del (p.Ala117fs) |
deletion |
Candidiasis, familial, 8 [RCV003002461] |
Chr6:111591738 [GRCh38] Chr6:111912941 [GRCh37] Chr6:6q21 |
pathogenic |
NM_147686.4(TRAF3IP2):c.829+18C>T |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002621839] |
Chr6:111591240 [GRCh38] Chr6:111912443 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1680T>C (p.Leu560=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003036038] |
Chr6:111559423 [GRCh38] Chr6:111880626 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1530G>A (p.Val510=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002876635] |
Chr6:111562986 [GRCh38] Chr6:111884189 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.124A>G (p.Met42Val) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002710697] |
Chr6:111591963 [GRCh38] Chr6:111913166 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.226G>C (p.Val76Leu) |
single nucleotide variant |
not specified [RCV004152340] |
Chr6:111591861 [GRCh38] Chr6:111913064 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.594A>C (p.Gly198=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003041833] |
Chr6:111591493 [GRCh38] Chr6:111912696 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1024G>A (p.Asp342Asn) |
single nucleotide variant |
not specified [RCV004110564] |
Chr6:111575820 [GRCh38] Chr6:111897023 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.377C>A (p.Pro126His) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002786262] |
Chr6:111591710 [GRCh38] Chr6:111912913 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1370T>C (p.Met457Thr) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002829820] |
Chr6:111566550 [GRCh38] Chr6:111887753 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.840C>T (p.Asp280=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002766317] |
Chr6:111580379 [GRCh38] Chr6:111901582 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.259G>A (p.Val87Ile) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002663739] |
Chr6:111591828 [GRCh38] Chr6:111913031 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.640A>G (p.Arg214Gly) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002572778] |
Chr6:111591447 [GRCh38] Chr6:111912650 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1477-13T>A |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002642401] |
Chr6:111563052 [GRCh38] Chr6:111884255 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.299C>G (p.Pro100Arg) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003062875] |
Chr6:111591788 [GRCh38] Chr6:111912991 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1661G>A (p.Arg554Gln) |
single nucleotide variant |
not specified [RCV004130448] |
Chr6:111559442 [GRCh38] Chr6:111880645 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.959C>T (p.Pro320Leu) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003065368] |
Chr6:111580260 [GRCh38] Chr6:111901463 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.984A>G (p.Ala328=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002933592] |
Chr6:111580235 [GRCh38] Chr6:111901438 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.563C>T (p.Ala188Val) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003047021] |
Chr6:111591524 [GRCh38] Chr6:111912727 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.169T>C (p.Ser57Pro) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002966129] |
Chr6:111591918 [GRCh38] Chr6:111913121 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1471C>T (p.Arg491Ter) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003086545] |
Chr6:111566449 [GRCh38] Chr6:111887652 [GRCh37] Chr6:6q21 |
pathogenic |
NM_147686.4(TRAF3IP2):c.1022+16C>A |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002811163] |
Chr6:111580181 [GRCh38] Chr6:111901384 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.250C>T (p.Arg84Cys) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003089791]|not specified [RCV004071969] |
Chr6:111591837 [GRCh38] Chr6:111913040 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.969C>T (p.His323=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002632478] |
Chr6:111580250 [GRCh38] Chr6:111901453 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1006G>C (p.Gly336Arg) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003032045] |
Chr6:111580213 [GRCh38] Chr6:111901416 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1636G>A (p.Glu546Lys) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003069416] |
Chr6:111559467 [GRCh38] Chr6:111880670 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1254C>T (p.Phe418=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002603082] |
Chr6:111572931 [GRCh38] Chr6:111894134 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.351G>A (p.Ala117=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003071297] |
Chr6:111591736 [GRCh38] Chr6:111912939 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1201+1G>C |
single nucleotide variant |
Candidiasis, familial, 8 [RCV002610544] |
Chr6:111575642 [GRCh38] Chr6:111896845 [GRCh37] Chr6:6q21 |
likely pathogenic |
NM_147686.4(TRAF3IP2):c.875C>T (p.Pro292Leu) |
single nucleotide variant |
not specified [RCV004344390] |
Chr6:111580344 [GRCh38] Chr6:111901547 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.143C>T (p.Ser48Phe) |
single nucleotide variant |
not specified [RCV004351732] |
Chr6:111591944 [GRCh38] Chr6:111913147 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1201+69G>A |
single nucleotide variant |
not specified [RCV003488911] |
Chr6:111575574 [GRCh38] Chr6:111896777 [GRCh37] Chr6:6q21 |
benign |
NM_147686.4(TRAF3IP2):c.830-7C>T |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003826238] |
Chr6:111580396 [GRCh38] Chr6:111901599 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.829+19_829+21del |
microsatellite |
Candidiasis, familial, 8 [RCV003880846] |
Chr6:111591237..111591239 [GRCh38] Chr6:111912440..111912442 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1677C>G (p.Thr559=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003876696] |
Chr6:111559426 [GRCh38] Chr6:111880629 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1201+50T>C |
single nucleotide variant |
not specified [RCV003488992] |
Chr6:111575593 [GRCh38] Chr6:111896796 [GRCh37] Chr6:6q21 |
benign |
NM_147686.4(TRAF3IP2):c.144T>G (p.Ser48=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003743399] |
Chr6:111591943 [GRCh38] Chr6:111913146 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.989G>C (p.Arg330Thr) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003745724] |
Chr6:111580230 [GRCh38] Chr6:111901433 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.660C>T (p.Ser220=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003581113] |
Chr6:111591427 [GRCh38] Chr6:111912630 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1360-15C>G |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003581194] |
Chr6:111566575 [GRCh38] Chr6:111887778 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1201+2T>C |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003745755] |
Chr6:111575641 [GRCh38] Chr6:111896844 [GRCh37] Chr6:6q21 |
likely pathogenic |
NM_147686.4(TRAF3IP2):c.461A>G (p.His154Arg) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003581353] |
Chr6:111591626 [GRCh38] Chr6:111912829 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.1236T>C (p.Ala412=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003745641] |
Chr6:111572949 [GRCh38] Chr6:111894152 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.876G>A (p.Pro292=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003581260] |
Chr6:111580343 [GRCh38] Chr6:111901546 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.698_749del (p.Ser233fs) |
deletion |
Candidiasis, familial, 8 [RCV003745146] |
Chr6:111591338..111591389 [GRCh38] Chr6:111912541..111912592 [GRCh37] Chr6:6q21 |
pathogenic |
NM_147686.4(TRAF3IP2):c.1477-15T>C |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003744475] |
Chr6:111563054 [GRCh38] Chr6:111884257 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1032A>G (p.Pro344=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003745889] |
Chr6:111575812 [GRCh38] Chr6:111897015 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.648G>A (p.Leu216=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003872357] |
Chr6:111591439 [GRCh38] Chr6:111912642 [GRCh37] Chr6:6q21 |
likely benign |
GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3 |
copy number gain |
not specified [RCV003986625] |
Chr6:110546061..131896074 [GRCh37] Chr6:6q21-23.2 |
likely pathogenic |
NM_147686.4(TRAF3IP2):c.1416C>T (p.Gly472=) |
single nucleotide variant |
Candidiasis, familial, 8 [RCV003870834] |
Chr6:111566504 [GRCh38] Chr6:111887707 [GRCh37] Chr6:6q21 |
likely benign |
NM_147686.4(TRAF3IP2):c.1568G>C (p.Trp523Ser) |
single nucleotide variant |
Psoriasis 13, susceptibility to [RCV003988792] |
Chr6:111559535 [GRCh38] Chr6:111880738 [GRCh37] Chr6:6q21 |
uncertain significance |
GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1 |
copy number loss |
not provided [RCV004577478] |
Chr6:109324789..124836619 [GRCh37] Chr6:6q21-22.31 |
pathogenic |
NM_147686.4(TRAF3IP2):c.433C>G (p.Leu145Val) |
single nucleotide variant |
not specified [RCV004471116] |
Chr6:111591654 [GRCh38] Chr6:111912857 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.382G>C (p.Glu128Gln) |
single nucleotide variant |
not specified [RCV004471115] |
Chr6:111591705 [GRCh38] Chr6:111912908 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_147686.4(TRAF3IP2):c.499T>C (p.Ser167Pro) |
single nucleotide variant |
not specified [RCV004471117] |
Chr6:111591588 [GRCh38] Chr6:111912791 [GRCh37] Chr6:6q21 |
uncertain significance |
NC_000006.11:g.(?_111887655)_(111890372_?)del |
deletion |
Candidiasis, familial, 8 [RCV004578681] |
Chr6:111887655..111890372 [GRCh37] Chr6:6q21 |
likely pathogenic |
NM_147686.4(TRAF3IP2):c.488_492del (p.Ser162_Leu163insTer) |
deletion |
Psoriasis 13, susceptibility to [RCV004764608] |
Chr6:111591595..111591599 [GRCh38] Chr6:111912798..111912802 [GRCh37] Chr6:6q21 |
likely pathogenic |