Annotation Detail

Information
Associated Genes
ATP5F1E BMP7 CD40 CDH4 CEBPB CHRNA4 COL9A3 CSE1L CSTF1 CTSZ CYP24A1 EDN3 EEF1A2 EYA2 GNAS NPBWR2 KCNB1 KCNG1 KCNQ2 KCNS1 LAMA5 MC3R MMP9 MYT1 NFATC2 NTSR1 OPRL1 PCK1 PFDN4 PI3 PLTP CTSA PPP1R3D PSMA7 PTGIS PTK6 PTPN1 RPS21 SDC4 SEMG1 SEMG2 SLPI SNAI1 SRMS STAU1 STK4 AURKA TAF4 TCEA2 TFAP2C TNNC2 TPD52L2 UBE2V1 YWHAB ZNF217 NCOA3 RAE1 BCAS1 STX16 TNFRSF6B MATN4 DPM1 VAPB B4GALT5 SPATA2 OSBPL2 ACOT8 ATP9A ARFRP1 RGS19 SYCP2 WFDC2 ARFGEF2 TCFL5 SPINT3 TOMM34 ADRM1 OGFR UBE2C DIDO1 HRH3 RBPJL SLC9A8 ADNP ZMYND8 SPO11 PRPF6 SS18L1 MTG2 GMEB2 SNORD12C TP53TG5 MOCS3 SLCO4A1 STMN3 SLC35C2 PRELID3B NELFCD RTF2 PIGT RTEL1 SOX18 YTHDF1 LIME1 UCKL1 GID8 PCMTD2 MRGBP RBM38 BCAS4 DDX27 ZNF334 ZFP64 ARFGAP1 DOK5 DBNDD2 RNF114 SULF2 SLC2A4RG PMEPA1 CASS4 EPPIN SALL4 ZNFX1 RAB22A SLC12A5 ZNF512B PREX1 COL20A1 NCOA5 CDH26 SLC17A9 ELMO2 ZNF335 LINC01749 PCIF1 FAM217B CDH22 SLC13A3 FNDC11 PPDPF LINC01711 BIRC7 NPEPL1 DNAJC5 PABPC1L TUBB1 ZBP1 SLC2A10 CABLES2 PARD6B ZGPAT HELZ2 SYS1 WFDC8 SNX21 ZSWIM1 TP53RK DNTTIP1 FAM210B PHACTR3 BHLHE23 NKAIN4 WFDC12 SPATA25 OCSTAMP TSHZ2 CIMIP1 ZNF831 MIR1-1HG GATA5 ZBTB46 WFDC3 GCNT7 CBLN4 CTCFL SAMD10 ABHD16B RIMS4 ANKRD60 NEURL2 ZSWIM3 WFDC10A WFDC6 RIPOR3 RBBP8NL WFDC5 APCDD1L-DT GNAS-AS1 LSM14B WFDC13 APCDD1L LKAAEAR1 FAM209A CRMA WFDC11 WFDC9 WFDC10B C20orf204 LINC00494 LINC01270 LINC02910 MIR646HG PEDS1 PEDS1-UBE2V1 FAM209B SPINT4 MIR1-1 MIR124-3 MIR133A2 MIR296 ZFAS1 SNORD12 MIR645 MIR646 MIR647 LOC729296 SYS1-DBNDD2 HAR1A HAR1B UCKL1-AS1 SNORD12B MIR298 MIR941-1 MIR941-4 MIR941-2 MIR941-3 SLCO4A1-AS1 LOC100128310 C20orf181 LOC100130587 LOC100131496 LINC00029 LINC01056 FLJ16779 RBM38-AS1 MIR1914 MIR1302-5 MIR1257 MIR3195 MIR4325 MIR3194 MIR4326 MIR3196 MTRNR2L3 MIR3616 MIR3617 MHENCR STK4-DT PELATON RIPOR3-AS1 PHACTR3-AS1 LINC01718 EPPIN-WFDC6 RTEL1-TNFRSF6B SLMO2-ATP5E STX16-NPEPL1 MIR4756 MIR4758 MIR4533 MIR548AG2 LINC00659 TRERNA1 LINC01523 OGFR-AS1 EYA2-AS1 LOC101927377 LINC01522 LINC01275 LINC01273 CEBPB-AS1 LINC01271 ADNP-AS1 LINC01429 LINC01524 ZNF217-AS1 LINC01441 LOC101927932 LOC101928048 LAMA5-AS1 SLCO4A1-AS2 ZBTB46-AS1 LINC02597 MIR6812 MIR6813 LINC01754 CSE1L-DT LINC01440 BMP7-AS1 MIR941-5 LOC105369209 LOC105372631 LOC105372633 LOC105372653 LOC105372669 LOC105372672 LINC01716 LOC105372695 LOC105372698 LOC105372703 LOC105372710 LINC02970 KCNQ2-AS1 LINC01742 NKILA LOC107985388 LOC108281116 LOC109461473 LOC109621227 SNORA117 SLC12A5-AS1 LOC110121370 LOC110121454 LOC110121469 LOC110594337 LOC111365159 LOC111413042 LOC112268269 LOC112268270 LOC112694717 LOC112694718 LOC112694720 LOC112694721 LOC112694722 LOC112694723 LOC112694724 LOC112694725 LOC112694726 LOC112694727 LOC112694728 MIR12122 LOC113960610 LOC113960611 LOC114004352 LOC114004353 LOC114004356 LOC114004357 LOC114803474 LOC114827864 LOC116286206 LOC116286207 LOC116286208 LOC116286209 TP53RK-DT LOC120285836 LOC121627906 LOC121627907 LOC121627908 LOC121627909 LOC121627910 LOC121627911 LOC121627912 LOC121627913 LOC121627914 LOC121627915 LOC121627916 LOC121853008 LOC121853010 LOC121853011 LOC121853012 LOC121853013 LOC121853014 LOC121853015 LOC121853016 LOC121853017 LOC121853018 LOC121853019 LOC121853020 ZBTB46-AS2 LOC125387277 LOC125387278 LOC125387279 LOC125387280 LOC125387281 LOC125387282 LOC125387283 LOC125387284 LOC125387285 LOC125387286 LOC125387287 LOC125387288 LOC125387289 LOC125387290 LOC125387291 LOC125387293 LOC125387294 LOC125387295 LOC125387296 LOC125387297 LOC125387298 LOC125387299 LOC125387300 LOC125387301 LOC125387302 LOC125387303 LOC125387304 LOC125387305 LOC125387306 LOC125387307 LOC125387308 LOC125387309 LOC125387310 LOC125387311 LOC125387312 LOC125387313 LOC125387316 LOC125387317 LOC125387318 LOC125387319 LOC125387320 LOC126863037 LOC126863038 LOC126863039 LOC126863040 LOC126863041 LOC126863042 LOC126863043 LOC126863044 LOC126863045 LOC126863046 LOC126863047 LOC126863048 LOC126863049 LOC126863050 LOC126863051 LOC126863052 LOC126863053 LOC126863054 LOC126863055 LOC126863056 LOC126863057 LOC126863058 LOC126863059 LOC126863060 LOC126863061 LOC126863062 LOC126863063 LOC126863064 LOC126863065 LOC126863066 LOC126863067 LOC126863068 LOC126863069 LOC126863070 LOC126863071 LOC126863072 LOC126863073 LOC126863074 LOC126863075 LOC126863076 LOC126863077 LOC126863078 LOC126863079 LOC126863080 LOC126863081 LOC126863082 LOC126863083 LOC126863084 LOC126863085 LOC126863086 LOC126863087 LOC126863088 LOC126863089 LOC126863090 LOC126863091 LOC126863092 LOC127893450 RPS21-DT LOC128772425 LOC128772426 LOC129391180 LOC129391181 LOC129391182 LOC129391183 LOC129391184 LOC129391185 LOC129391186 LOC129391187 LOC129391188 LOC129391189 LOC129391190 LOC129391191 LOC129391192 LOC129391193 LOC129391194 LOC129391195 LOC129391196 LOC129391197 LOC129391198 LOC129391199 LOC129391200 LOC129391201 LOC129391202 LOC129391203 LOC129391204 LOC129391205 LOC129391206 LOC129391207 LOC129391208 LOC129391209 LOC129391210 LOC129391211 LOC129391212 LOC129391213 LOC129456124 LOC130065944 LOC130065945 LOC130065946 LOC130065947 LOC130065948 LOC130065949 LOC130065950 LOC130065951 LOC130065952 LOC130065953 LOC130065954 LOC130065955 LOC130065956 LOC130065957 LOC130065958 LOC130065959 LOC130065960 LOC130065961 LOC130065962 LOC130065963 LOC130065964 LOC130065965 LOC130065966 LOC130065967 LOC130065968 LOC130065969 LOC130065970 LOC130065971 LOC130065972 LOC130065973 LOC130065974 LOC130065975 LOC130065976 LOC130065977 LOC130065978 LOC130065979 LOC130065980 LOC130065981 LOC130065982 LOC130065983 LOC130065984 LOC130065985 LOC130065986 LOC130065987 LOC130065988 LOC130065989 LOC130065990 LOC130065991 LOC130065992 LOC130065993 LOC130065994 LOC130065995 LOC130065996 LOC130065997 LOC130065998 LOC130065999 LOC130066000 LOC130066001 LOC130066002 LOC130066003 LOC130066004 LOC130066005 LOC130066006 LOC130066007 LOC130066008 LOC130066009 LOC130066010 LOC130066011 LOC130066012 LOC130066013 LOC130066014 LOC130066015 LOC130066016 LOC130066017 LOC130066018 LOC130066019 LOC130066020 LOC130066021 LOC130066022 LOC130066023 LOC130066024 LOC130066025 LOC130066026 LOC130066027 LOC130066028 LOC130066029 LOC130066030 LOC130066031 LOC130066032 LOC130066033 LOC130066034 LOC130066035 LOC130066036 LOC130066037 LOC130066038 LOC130066039 LOC130066040 LOC130066041 LOC130066042 LOC130066043 LOC130066044 LOC130066045 LOC130066046 LOC130066047 LOC130066048 LOC130066049 LOC130066050 LOC130066051 LOC130066052 LOC130066053 LOC130066054 LOC130066055 LOC130066056 LOC130066057 LOC130066058 LOC130066059 LOC130066060 LOC130066061 LOC130066062 LOC130066063 LOC130066064 LOC130066065 LOC130066066 LOC130066067 LOC130066068 LOC130066069 LOC130066070 LOC130066071 LOC130066072 LOC130066073 LOC130066074 LOC130066075 LOC130066076 LOC130066077 LOC130066078 LOC130066079 LOC130066080 LOC130066081 LOC130066082 LOC130066083 LOC130066084 LOC130066085 LOC130066086 LOC130066087 LOC130066088 LOC130066089 LOC130066090 LOC130066091 LOC130066092 LOC130066093 LOC130066094 LOC130066095 LOC130066096 LOC130066097 LOC130066098 LOC130066099 LOC130066100 LOC130066101 LOC130066102 LOC130066103 LOC130066104 LOC130066105 LOC130066106 LOC130066107 LOC130066108 LOC130066109 LOC130066110 LOC130066111 LOC130066112 LOC130066113 LOC130066114 LOC130066115 LOC130066116 LOC130066117 LOC130066118 LOC130066119 LOC130066120 LOC130066121 LOC130066122 LOC130066123 LOC130066124 LOC130066125 LOC130066126 LOC130066127 LOC130066128 LOC130066129 LOC130066130 LOC130066131 LOC130066132 LOC130066133 LOC130066134 LOC130066135 LOC130066136 LOC130066137 LOC130066138 LOC130066139 LOC130066140 LOC130066141 LOC130066142 LOC130066143 LOC130066144 LOC130066145 LOC130066146 LOC130066147 LOC130066148 LOC130066149 LOC130066150 LOC130066151 LOC130066152 LOC130066153 LOC130066154 LOC130066155 LOC130066156 LOC130066157 LOC130066158 LOC130066159 LOC130066160 LOC130066161 LOC130066162 LOC130066163 LOC130066164 LOC130066165 LOC130066166 LOC130066167 LOC130066168 LOC130066169 LOC130066170 LOC130066171 LOC130066172 LOC130066173 LOC130066174 LOC130066175 LOC130066176 LOC130066177 LOC130066178 LOC130066179 LOC130066180 LOC130066181 LOC130066182 LOC130066183 LOC130066184 LOC130066185 LOC130066186 LOC130066187 LOC130066188 LOC130066189 LOC130066190 LOC130066191 LOC130066192 LOC130066193 LOC130066194 LOC130066195 LOC130066196 LOC130066197 LOC130066198 LOC130066199 LOC130066200 LOC130066201 LOC130066202 LOC130066203 LOC130066204 LOC130066205 LOC130066206 LOC130066207 LOC130066208 LOC130066209 LOC130066210 LOC130066211 LOC130066212 LOC130066213 LOC130066214 LOC130066215 LOC130066216 LOC130066217 LOC130066218 LOC130066219 LOC130066220 LOC130066221 LOC130066222 LOC130066223 LOC130066224 LOC130066225 LOC130066226 LOC130066227 LOC130066228 LOC130066229 LOC130066230 LOC130066231 LOC130066232 LOC130066233 LOC130066234 LOC130066235 LOC130066236 LOC130066237 LOC130066238 LOC130066239 LOC130066240 LOC130066241 LOC130066242 LOC130066243 LOC130066244 LOC130066245 LOC130066246 LOC130066247 LOC130066248 LOC130066249 LOC130066250 LOC130066251 LOC130066252 LOC130066253 LOC130066254 LOC130066255 LOC130066256 LOC130066257 LOC130066258 LOC130066259 LOC130066260 LOC130066261 LOC130066262 LOC130066263 LOC130066264 LOC130066265 LOC130066266 LOC130066267 LOC130066268 LOC130066269 LOC130066270 LOC130066271 LOC130066272 LOC130066273 LOC130066274 LOC130066275 LOC130066276 LOC130066277 LOC130066278 LOC130066279 LOC130066280 LOC130066281 LOC130066282 LOC130066283 LOC130066284 LOC130066285 LOC130066286 LOC130066287 LOC130066288 LOC130066289 LOC130066290 LOC130066291 LOC130066292 LOC130066293 LOC130066294 LOC130066295 LOC130066296 LOC130066297 LOC130066298 LOC130066299 LOC130066300 LOC130066301 LOC130066302 LOC130066303 LOC130066304 LOC130066305 LOC130066306 LOC130066307 LOC130066308 LOC130066309 LOC130066310 LOC130066311 LOC130066312 LOC130066313 LOC130066314 LOC130066315 LOC130066316 LOC130066317 LOC130066318 LOC130066319 LOC130066320 LOC130066321 LOC130066322 LOC130066323 LOC130066324 LOC130066325 LOC130066326 LOC130066327 LOC130066328 LOC130066329 LOC130066330 LOC130066331 LOC130066332 LOC130066333 LOC130066334 LOC130066335 LOC130066336 LOC130066337 LOC130066338 LOC130066339 LOC130066340 LOC130066341 LOC130066342 LOC130066343 LOC130066344 LOC130066345 LOC130066346 LOC130066347 LOC130066348 LOC130066349 LOC130066350 LOC130066351 LOC130066352 LOC130066353 LOC130066354 LOC130066355 LOC130066356 LOC130066357 LOC130066358 LOC130066359 LOC130066360 LOC130066361 LOC130066362 LOC130066363 LOC130066364 LOC130066365 LOC130066366 LOC130066367 LOC130066368 LOC130066369 LOC130066370 LOC130066371 LOC130066372 LOC130066373 LOC130066374 LOC130066375 LOC130066376 LOC130066377 LOC130066378 LOC130066379 LOC130066380 LOC130066381 LOC130066382 LOC130066383 LOC130066384 LOC130066385 LOC130066386 LOC130066387 LOC130066388 LOC130066389 LOC130066390 LOC130066391 LOC130066392 LOC130066393 LOC130066394 LOC130066395 LOC130066396 LOC130066397 LOC130066398 LOC130066399 LOC130066400 LOC130066401 LOC130066402 LOC130066403 LOC130066404 LOC130066405 LOC130066406 LOC130066407 LOC130066408 LOC130066409 LOC130066410 LOC130066411 LOC130066412 LOC130066413 LOC130066414 LOC130066415 LOC130066416 LOC130066417 LOC130066418 LOC130066419 LOC130066420 LOC130066421 LOC130066422 LOC130066423 LOC130066424 LOC130066425 LOC130066426 LOC130066427 LOC130066428 LOC132090577 LOC132090578 LOC132090579 LOC132090580 LOC132090581 LOC132090582 LOC132090583 LOC132090584 LOC132090585 LOC132090586 LOC132090587 LOC132090588 LOC132090589 LOC132090590 LOC132090591 LOC132090592 LOC132090593 LOC132090594 LOC132090595 LOC132090596 LOC132090597 LOC132090598 LOC132090599 LOC132090600 LOC132090601 LOC132090602 LOC132090603 LOC132090604 LOC132090605 LOC132090606 LOC132090911 LOC132090912 LOC132090913 LOC132090914 LOC132090915
Associated Variants
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3
Source Database
ClinVar
Description
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 AND See cases
ClinVar Allele ID
73813
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2011-08-12
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000053035
Observed Origin Sample
paternal
Drugs