ClinVar Miner

List of variants in gene PTCH2 reported as uncertain significance for Gorlin syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 514
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003738.5(PTCH2):c.2902G>A (p.Val968Ile) rs200873074 0.00028
NM_003738.5(PTCH2):c.3055G>A (p.Val1019Met) rs11573591 0.00023
NM_003738.5(PTCH2):c.1880C>G (p.Pro627Arg) rs554684439 0.00018
NM_003738.5(PTCH2):c.2432G>A (p.Arg811His) rs112613379 0.00016
NM_003738.5(PTCH2):c.3269C>T (p.Ala1090Val) rs202184038 0.00016
NM_003738.5(PTCH2):c.2803G>A (p.Ala935Thr) rs144561012 0.00014
NM_003738.5(PTCH2):c.1112C>G (p.Ala371Gly) rs373859654 0.00013
NM_003738.5(PTCH2):c.3257+3del rs758457727 0.00013
NM_003738.5(PTCH2):c.302A>G (p.Lys101Arg) rs375651844 0.00011
NM_003738.5(PTCH2):c.3071C>T (p.Ala1024Val) rs147567317 0.00011
NM_003738.5(PTCH2):c.1243C>T (p.Arg415Trp) rs143737414 0.00010
NM_003738.5(PTCH2):c.1592C>T (p.Ala531Val) rs766965501 0.00009
NM_003738.5(PTCH2):c.347T>C (p.Ile116Thr) rs200800966 0.00009
NM_003738.5(PTCH2):c.703C>T (p.Arg235Trp) rs200366479 0.00009
NM_003738.5(PTCH2):c.3154G>A (p.Ala1052Thr) rs139590197 0.00008
NM_003738.5(PTCH2):c.1371+5G>A rs532682199 0.00007
NM_003738.5(PTCH2):c.2678C>T (p.Thr893Met) rs199596045 0.00007
NM_003738.5(PTCH2):c.3139C>T (p.Arg1047Trp) rs758245867 0.00007
NM_003738.5(PTCH2):c.623G>A (p.Arg208His) rs768496761 0.00007
NM_003738.5(PTCH2):c.998G>A (p.Arg333Gln) rs146689795 0.00007
NM_003738.5(PTCH2):c.1255G>A (p.Ala419Thr) rs765975927 0.00006
NM_003738.5(PTCH2):c.1844C>A (p.Thr615Asn) rs528004785 0.00006
NM_003738.5(PTCH2):c.2261G>A (p.Arg754His) rs757344433 0.00006
NM_003738.5(PTCH2):c.2263G>A (p.Ala755Thr) rs200862802 0.00006
NM_003738.5(PTCH2):c.2431C>T (p.Arg811Cys) rs144449175 0.00006
NM_003738.5(PTCH2):c.2964G>A (p.Thr988=) rs746706776 0.00006
NM_003738.5(PTCH2):c.311T>C (p.Leu104Pro) rs80168454 0.00006
NM_003738.5(PTCH2):c.3190G>A (p.Asp1064Asn) rs758108389 0.00006
NM_003738.5(PTCH2):c.704G>A (p.Arg235Gln) rs376337405 0.00006
NM_003738.5(PTCH2):c.865A>G (p.Lys289Glu) rs766393257 0.00006
NM_003738.5(PTCH2):c.1561A>C (p.Ile521Leu) rs1159508966 0.00005
NM_003738.5(PTCH2):c.1768C>A (p.Pro590Thr) rs776592479 0.00005
NM_003738.5(PTCH2):c.2410C>T (p.Arg804Cys) rs146570996 0.00005
NM_003738.5(PTCH2):c.2743C>T (p.Arg915Cys) rs758477982 0.00005
NM_003738.5(PTCH2):c.608C>T (p.Ala203Val) rs968580747 0.00005
NM_003738.5(PTCH2):c.1090C>G (p.Gln364Glu) rs1315638429 0.00004
NM_003738.5(PTCH2):c.1223A>G (p.Tyr408Cys) rs140845138 0.00004
NM_003738.5(PTCH2):c.1267G>A (p.Gly423Ser) rs371644875 0.00004
NM_003738.5(PTCH2):c.1519A>G (p.Ile507Val) rs139931596 0.00004
NM_003738.5(PTCH2):c.1759G>A (p.Gly587Arg) rs375844056 0.00004
NM_003738.5(PTCH2):c.184G>A (p.Gly62Arg) rs751954698 0.00004
NM_003738.5(PTCH2):c.2065G>A (p.Val689Met) rs748318921 0.00004
NM_003738.5(PTCH2):c.2419C>T (p.Arg807Cys) rs376171572 0.00004
NM_003738.5(PTCH2):c.2459C>T (p.Ala820Val) rs140437473 0.00004
NM_003738.5(PTCH2):c.2884C>T (p.Arg962Cys) rs746328425 0.00004
NM_003738.5(PTCH2):c.2976+2T>C rs760436790 0.00004
NM_003738.5(PTCH2):c.3210G>C (p.Leu1070Phe) rs138220875 0.00004
NM_003738.5(PTCH2):c.3270G>A (p.Ala1090=) rs752886480 0.00004
NM_003738.5(PTCH2):c.3280G>C (p.Val1094Leu) rs148142832 0.00004
NM_003738.5(PTCH2):c.3607G>A (p.Gly1203Arg) rs369587910 0.00004
NM_003738.5(PTCH2):c.446T>A (p.Leu149His) rs111283762 0.00004
NM_003738.5(PTCH2):c.1036G>C (p.Glu346Gln) rs11573578 0.00003
NM_003738.5(PTCH2):c.1083+4G>A rs370819522 0.00003
NM_003738.5(PTCH2):c.1465-3C>A rs749158562 0.00003
NM_003738.5(PTCH2):c.1568C>T (p.Ala523Val) rs200216295 0.00003
NM_003738.5(PTCH2):c.1663C>T (p.Arg555Trp) rs369481564 0.00003
NM_003738.5(PTCH2):c.1756G>T (p.Asp586Tyr) rs751113988 0.00003
NM_003738.5(PTCH2):c.1951G>A (p.Glu651Lys) rs866056830 0.00003
NM_003738.5(PTCH2):c.221G>A (p.Arg74His) rs771760736 0.00003
NM_003738.5(PTCH2):c.229A>G (p.Ile77Val) rs774219740 0.00003
NM_003738.5(PTCH2):c.2692C>T (p.Arg898Cys) rs759692145 0.00003
NM_003738.5(PTCH2):c.2776G>T (p.Ala926Ser) rs764506722 0.00003
NM_003738.5(PTCH2):c.2882G>A (p.Arg961Gln) rs369745249 0.00003
NM_003738.5(PTCH2):c.2954A>G (p.Asn985Ser) rs752127255 0.00003
NM_003738.5(PTCH2):c.2975T>C (p.Ile992Thr) rs776299795 0.00003
NM_003738.5(PTCH2):c.3166G>C (p.Glu1056Gln) rs1488300164 0.00003
NM_003738.5(PTCH2):c.3170A>G (p.His1057Arg) rs775788908 0.00003
NM_003738.5(PTCH2):c.3263T>A (p.Phe1088Tyr) rs200049774 0.00003
NM_003738.5(PTCH2):c.565C>G (p.Leu189Val) rs747885797 0.00003
NM_003738.5(PTCH2):c.626C>G (p.Pro209Arg) rs372348401 0.00003
NM_003738.5(PTCH2):c.755G>A (p.Cys252Tyr) rs756377856 0.00003
NM_003738.5(PTCH2):c.832G>A (p.Glu278Lys) rs749103409 0.00003
NM_003738.5(PTCH2):c.1039C>T (p.Gln347Ter) rs202104574 0.00002
NM_003738.5(PTCH2):c.1081C>T (p.Gln361Ter) rs757205202 0.00002
NM_003738.5(PTCH2):c.1238T>C (p.Met413Thr) rs779283615 0.00002
NM_003738.5(PTCH2):c.1244G>A (p.Arg415Gln) rs764488358 0.00002
NM_003738.5(PTCH2):c.1273G>A (p.Val425Met) rs776537011 0.00002
NM_003738.5(PTCH2):c.1489C>T (p.Arg497Cys) rs200815526 0.00002
NM_003738.5(PTCH2):c.1492A>G (p.Thr498Ala) rs777213605 0.00002
NM_003738.5(PTCH2):c.1555G>A (p.Val519Ile) rs113543298 0.00002
NM_003738.5(PTCH2):c.1624G>A (p.Val542Met) rs1366049289 0.00002
NM_003738.5(PTCH2):c.1690G>A (p.Val564Met) rs35956045 0.00002
NM_003738.5(PTCH2):c.1726G>T (p.Val576Leu) rs867905557 0.00002
NM_003738.5(PTCH2):c.1783C>T (p.His595Tyr) rs199563590 0.00002
NM_003738.5(PTCH2):c.1979C>A (p.Ser660Tyr) rs376282577 0.00002
NM_003738.5(PTCH2):c.19C>G (p.Leu7Val) rs1030456781 0.00002
NM_003738.5(PTCH2):c.2014G>A (p.Ala672Thr) rs145383991 0.00002
NM_003738.5(PTCH2):c.2033C>T (p.Pro678Leu) rs752642110 0.00002
NM_003738.5(PTCH2):c.203C>A (p.Ala68Asp) rs376362870 0.00002
NM_003738.5(PTCH2):c.2303C>T (p.Ala768Val) rs761442845 0.00002
NM_003738.5(PTCH2):c.233T>C (p.Ile78Thr) rs749275900 0.00002
NM_003738.5(PTCH2):c.247G>A (p.Glu83Lys) rs781204167 0.00002
NM_003738.5(PTCH2):c.2662G>A (p.Asp888Asn) rs745445438 0.00002
NM_003738.5(PTCH2):c.2716G>C (p.Glu906Gln) rs751579508 0.00002
NM_003738.5(PTCH2):c.275G>A (p.Arg92Gln) rs778736481 0.00002
NM_003738.5(PTCH2):c.277G>A (p.Val93Met) rs145784624 0.00002
NM_003738.5(PTCH2):c.286G>A (p.Glu96Lys) rs773172626 0.00002
NM_003738.5(PTCH2):c.2932G>A (p.Val978Ile) rs201618166 0.00002
NM_003738.5(PTCH2):c.3076G>A (p.Val1026Ile) rs758023126 0.00002
NM_003738.5(PTCH2):c.3148C>T (p.Arg1050Trp) rs765314961 0.00002
NM_003738.5(PTCH2):c.3257+1G>A rs760843273 0.00002
NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu) rs539161089 0.00002
NM_003738.5(PTCH2):c.3518A>G (p.Tyr1173Cys) rs771112499 0.00002
NM_003738.5(PTCH2):c.3548G>A (p.Trp1183Ter) rs56024410 0.00002
NM_003738.5(PTCH2):c.3590G>A (p.Gly1197Glu) rs909583917 0.00002
NM_003738.5(PTCH2):c.467T>G (p.Leu156Trp) rs757373889 0.00002
NM_003738.5(PTCH2):c.526-2A>G rs761307519 0.00002
NM_003738.5(PTCH2):c.545C>T (p.Pro182Leu) rs773912063 0.00002
NM_003738.5(PTCH2):c.70C>G (p.Gln24Glu) rs1038343665 0.00002
NM_003738.5(PTCH2):c.811C>T (p.Gln271Ter) rs1179743544 0.00002
NM_003738.5(PTCH2):c.901G>A (p.Gly301Ser) rs757505677 0.00002
NM_003738.5(PTCH2):c.1070G>A (p.Arg357Gln) rs746520151 0.00001
NM_003738.5(PTCH2):c.1093G>T (p.Glu365Ter) rs1344552083 0.00001
NM_003738.5(PTCH2):c.109C>T (p.Arg37Cys) rs768246990 0.00001
NM_003738.5(PTCH2):c.110G>A (p.Arg37His) rs889058469 0.00001
NM_003738.5(PTCH2):c.1166C>T (p.Ala389Val) rs566147210 0.00001
NM_003738.5(PTCH2):c.1216C>A (p.Leu406Met) rs768659000 0.00001
NM_003738.5(PTCH2):c.1240C>G (p.Leu414Val) rs936828240 0.00001
NM_003738.5(PTCH2):c.1296_1300del (p.Val433fs) rs781171287 0.00001
NM_003738.5(PTCH2):c.1342G>A (p.Gly448Ser) rs764006611 0.00001
NM_003738.5(PTCH2):c.1371+4C>T rs201185084 0.00001
NM_003738.5(PTCH2):c.1387G>C (p.Ala463Pro) rs767529534 0.00001
NM_003738.5(PTCH2):c.1399G>A (p.Gly467Ser) rs774556844 0.00001
NM_003738.5(PTCH2):c.148G>A (p.Gly50Arg) rs1050285039 0.00001
NM_003738.5(PTCH2):c.1490G>A (p.Arg497His) rs747326124 0.00001
NM_003738.5(PTCH2):c.1491C>T (p.Arg497=) rs1218382325 0.00001
NM_003738.5(PTCH2):c.1540C>T (p.Leu514Phe) rs1166767159 0.00001
NM_003738.5(PTCH2):c.1574G>A (p.Arg525Gln) rs780947486 0.00001
NM_003738.5(PTCH2):c.1583C>T (p.Ser528Phe) rs746773302 0.00001
NM_003738.5(PTCH2):c.1588C>T (p.Gln530Ter) rs1267419292 0.00001
NM_003738.5(PTCH2):c.1634T>C (p.Val545Ala) rs868360367 0.00001
NM_003738.5(PTCH2):c.1664G>A (p.Arg555Gln) rs751870013 0.00001
NM_003738.5(PTCH2):c.1667G>A (p.Arg556Gln) rs538894363 0.00001
NM_003738.5(PTCH2):c.1682G>A (p.Arg561His) rs375224102 0.00001
NM_003738.5(PTCH2):c.1720G>T (p.Ala574Ser) rs779477101 0.00001
NM_003738.5(PTCH2):c.1913C>G (p.Pro638Arg) rs753624626 0.00001
NM_003738.5(PTCH2):c.1991C>T (p.Ala664Val) rs1461435360 0.00001
NM_003738.5(PTCH2):c.2017C>T (p.Arg673Cys) rs151287275 0.00001
NM_003738.5(PTCH2):c.2086C>T (p.Leu696Phe) rs765469465 0.00001
NM_003738.5(PTCH2):c.2156G>A (p.Arg719Gln) rs121434397 0.00001
NM_003738.5(PTCH2):c.2212G>A (p.Glu738Lys) rs772919434 0.00001
NM_003738.5(PTCH2):c.2219C>T (p.Ala740Val) rs768297911 0.00001
NM_003738.5(PTCH2):c.2260C>T (p.Arg754Cys) rs779024571 0.00001
NM_003738.5(PTCH2):c.2319G>A (p.Pro773=) rs1346751141 0.00001
NM_003738.5(PTCH2):c.2356C>T (p.Arg786Cys) rs756422449 0.00001
NM_003738.5(PTCH2):c.2371+9C>T rs1261637894 0.00001
NM_003738.5(PTCH2):c.2380G>A (p.Ala794Thr) rs753274452 0.00001
NM_003738.5(PTCH2):c.2514+1G>T rs1270521718 0.00001
NM_003738.5(PTCH2):c.2519C>G (p.Thr840Ser) rs150339322 0.00001
NM_003738.5(PTCH2):c.2563C>T (p.Leu855Phe) rs770833248 0.00001
NM_003738.5(PTCH2):c.2584G>A (p.Val862Met) rs371160711 0.00001
NM_003738.5(PTCH2):c.2644C>T (p.Pro882Ser) rs746520920 0.00001
NM_003738.5(PTCH2):c.2810C>T (p.Ala937Val) rs776549275 0.00001
NM_003738.5(PTCH2):c.2812G>A (p.Gly938Ser) rs746898559 0.00001
NM_003738.5(PTCH2):c.2865A>G (p.Glu955=) rs895448868 0.00001
NM_003738.5(PTCH2):c.2923A>T (p.Thr975Ser) rs1166283414 0.00001
NM_003738.5(PTCH2):c.2933T>C (p.Val978Ala) rs756475622 0.00001
NM_003738.5(PTCH2):c.3233G>T (p.Gly1078Val) rs150218755 0.00001
NM_003738.5(PTCH2):c.3271G>A (p.Ala1091Thr) rs767618405 0.00001
NM_003738.5(PTCH2):c.3287C>T (p.Thr1096Met) rs1159570918 0.00001
NM_003738.5(PTCH2):c.3431G>A (p.Gly1144Glu) rs1234546689 0.00001
NM_003738.5(PTCH2):c.3473C>G (p.Thr1158Ser) rs545773315 0.00001
NM_003738.5(PTCH2):c.3500C>T (p.Pro1167Leu) rs777389212 0.00001
NM_003738.5(PTCH2):c.3506T>C (p.Leu1169Pro) rs779167991 0.00001
NM_003738.5(PTCH2):c.3506del (p.Leu1169fs) rs1049941528 0.00001
NM_003738.5(PTCH2):c.3566G>C (p.Ser1189Thr) rs900911841 0.00001
NM_003738.5(PTCH2):c.453G>T (p.Gly151=) rs757012124 0.00001
NM_003738.5(PTCH2):c.523C>T (p.Arg175Trp) rs777212373 0.00001
NM_003738.5(PTCH2):c.52G>C (p.Ala18Pro) rs1186947999 0.00001
NM_003738.5(PTCH2):c.530T>C (p.Ile177Thr) rs1383422802 0.00001
NM_003738.5(PTCH2):c.550G>A (p.Val184Met) rs748846701 0.00001
NM_003738.5(PTCH2):c.571del (p.Cys191fs) rs1476622319 0.00001
NM_003738.5(PTCH2):c.73A>C (p.Ile25Leu) rs766919037 0.00001
NM_003738.5(PTCH2):c.763C>G (p.Pro255Ala) rs200618779 0.00001
NM_003738.5(PTCH2):c.7C>T (p.Arg3Ter) rs1060502263 0.00001
NM_003738.5(PTCH2):c.813+4G>C rs552470325 0.00001
NM_003738.5(PTCH2):c.821A>G (p.Asn274Ser) rs753314916 0.00001
NM_003738.5(PTCH2):c.838A>G (p.Ser280Gly) rs1429367527 0.00001
NM_003738.5(PTCH2):c.935+6G>A rs370065753 0.00001
NM_003738.5(PTCH2):c.953G>A (p.Ser318Asn) rs772366646 0.00001
NM_003738.5(PTCH2):c.997C>T (p.Arg333Trp) rs779863570 0.00001
NC_000001.10:g.(?_45288087)_(45289067_?)dup
NC_000001.10:g.(?_45288087)_(45308604_?)dup
NC_000001.10:g.(?_45290013)_(45292899_?)del
NC_000001.10:g.(?_45295206)_(45297698_?)del
NC_000001.10:g.(?_45307509)_(45308604_?)dup
NC_000001.11:g.(?_44822405)_(44823395_?)dup
NC_000001.11:g.(?_44822405)_(44832351_?)dup
NM_003738.5(PTCH2):c.1007A>G (p.Tyr336Cys)
NM_003738.5(PTCH2):c.101T>C (p.Leu34Pro)
NM_003738.5(PTCH2):c.1032_1035del (p.Ser344fs)
NM_003738.5(PTCH2):c.104G>C (p.Trp35Ser)
NM_003738.5(PTCH2):c.1058A>G (p.Gln353Arg)
NM_003738.5(PTCH2):c.106C>G (p.Leu36Val) rs2148886480
NM_003738.5(PTCH2):c.1072C>T (p.Arg358Cys)
NM_003738.5(PTCH2):c.1078G>C (p.Val360Leu) rs745653597
NM_003738.5(PTCH2):c.1083+5G>A rs1653336998
NM_003738.5(PTCH2):c.1083G>C (p.Gln361His) rs2148877935
NM_003738.5(PTCH2):c.1090C>T (p.Gln364Ter) rs1315638429
NM_003738.5(PTCH2):c.1111G>A (p.Ala371Thr) rs201191113
NM_003738.5(PTCH2):c.1111G>C (p.Ala371Pro) rs201191113
NM_003738.5(PTCH2):c.1117C>T (p.Gln373Ter)
NM_003738.5(PTCH2):c.1127A>G (p.His376Arg)
NM_003738.5(PTCH2):c.1142C>T (p.Thr381Ile) rs1653328317
NM_003738.5(PTCH2):c.116A>T (p.Tyr39Phe) rs746706971
NM_003738.5(PTCH2):c.1172C>T (p.Ser391Phe) rs1553165363
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_003738.5(PTCH2):c.1181G>A (p.Ser394Asn)
NM_003738.5(PTCH2):c.1189C>T (p.Arg397Cys)
NM_003738.5(PTCH2):c.1189del (p.Arg397fs) rs778199787
NM_003738.5(PTCH2):c.1203C>G (p.Gly401=)
NM_003738.5(PTCH2):c.1210C>T (p.Leu404Phe)
NM_003738.5(PTCH2):c.1215+4G>A
NM_003738.5(PTCH2):c.1216-1G>C rs781065537
NM_003738.5(PTCH2):c.1218G>A (p.Leu406=) rs2148877355
NM_003738.5(PTCH2):c.1247G>A (p.Trp416Ter) rs1573648782
NM_003738.5(PTCH2):c.126C>T (p.Gly42=) rs771823715
NM_003738.5(PTCH2):c.1285G>A (p.Gly429Arg) rs772212841
NM_003738.5(PTCH2):c.1292T>C (p.Leu431Pro)
NM_003738.5(PTCH2):c.1296_1305delinsCACCA (p.Val433fs) rs1573648653
NM_003738.5(PTCH2):c.1297G>A (p.Val433Met)
NM_003738.5(PTCH2):c.1309G>A (p.Val437Met)
NM_003738.5(PTCH2):c.1316C>T (p.Ser439Leu)
NM_003738.5(PTCH2):c.1326del (p.Leu443fs) rs755069524
NM_003738.5(PTCH2):c.1372-1G>T
NM_003738.5(PTCH2):c.1379C>A (p.Pro460His)
NM_003738.5(PTCH2):c.1402G>A (p.Val468Met)
NM_003738.5(PTCH2):c.1416C>G (p.Phe472Leu)
NM_003738.5(PTCH2):c.1417del (p.Leu473fs) rs1653297701
NM_003738.5(PTCH2):c.1424C>A (p.Ala475Glu)
NM_003738.5(PTCH2):c.1427A>G (p.His476Arg) rs1653296842
NM_003738.5(PTCH2):c.1448C>T (p.Pro483Leu) rs2148876862
NM_003738.5(PTCH2):c.1465-1G>A
NM_003738.5(PTCH2):c.1468C>T (p.Arg490Cys)
NM_003738.5(PTCH2):c.1475G>T (p.Gly492Val) rs1653276978
NM_003738.5(PTCH2):c.1496G>A (p.Gly499Asp)
NM_003738.5(PTCH2):c.1517C>A (p.Ser506Tyr) rs1322200411
NM_003738.5(PTCH2):c.1523A>G (p.Asn508Ser)
NM_003738.5(PTCH2):c.1524del (p.Asn508fs)
NM_003738.5(PTCH2):c.1526dup (p.Asn509fs) rs1329842135
NM_003738.5(PTCH2):c.1531G>A (p.Ala511Thr)
NM_003738.5(PTCH2):c.1543A>G (p.Met515Val)
NM_003738.5(PTCH2):c.1558C>A (p.Pro520Thr) rs1382444662
NM_003738.5(PTCH2):c.1565C>T (p.Pro522Leu)
NM_003738.5(PTCH2):c.1568dup (p.Leu524fs)
NM_003738.5(PTCH2):c.1590+17G>A rs753968565
NM_003738.5(PTCH2):c.1621G>T (p.Ala541Ser) rs778833779
NM_003738.5(PTCH2):c.1622C>T (p.Ala541Val)
NM_003738.5(PTCH2):c.1652G>T (p.Ser551Ile)
NM_003738.5(PTCH2):c.1669C>T (p.Arg557Cys)
NM_003738.5(PTCH2):c.1670G>A (p.Arg557His)
NM_003738.5(PTCH2):c.1685_1709+14dup
NM_003738.5(PTCH2):c.1716del (p.Ser573fs)
NM_003738.5(PTCH2):c.1725G>A (p.Gln575=)
NM_003738.5(PTCH2):c.1726G>A (p.Val576Met) rs867905557
NM_003738.5(PTCH2):c.172G>C (p.Val58Leu)
NM_003738.5(PTCH2):c.1737C>G (p.Ile579Met) rs2148876037
NM_003738.5(PTCH2):c.1753G>C (p.Gly585Arg)
NM_003738.5(PTCH2):c.175C>A (p.Leu59Ile) rs1653965168
NM_003738.5(PTCH2):c.1763C>T (p.Thr588Ile)
NM_003738.5(PTCH2):c.1786C>G (p.Leu596Val) rs2148875992
NM_003738.5(PTCH2):c.1795A>G (p.Thr599Ala)
NM_003738.5(PTCH2):c.1816T>C (p.Cys606Arg) rs2148875968
NM_003738.5(PTCH2):c.1829G>T (p.Ser610Ile) rs2148875950
NM_003738.5(PTCH2):c.1835A>C (p.His612Pro)
NM_003738.5(PTCH2):c.1840G>T (p.Val614Phe) rs1653244164
NM_003738.5(PTCH2):c.1853C>T (p.Pro618Leu)
NM_003738.5(PTCH2):c.1927C>T (p.Arg643Trp)
NM_003738.5(PTCH2):c.1928G>A (p.Arg643Gln)
NM_003738.5(PTCH2):c.1930_1931insGGGGGGG (p.Asp644fs)
NM_003738.5(PTCH2):c.1932C>A (p.Asp644Glu)
NM_003738.5(PTCH2):c.1933C>T (p.Leu645Phe) rs1557644727
NM_003738.5(PTCH2):c.1940G>A (p.Gly647Asp)
NM_003738.5(PTCH2):c.1987T>C (p.Cys663Arg) rs775286824
NM_003738.5(PTCH2):c.1993C>G (p.Arg665Gly)
NM_003738.5(PTCH2):c.19C>T (p.Leu7Phe) rs1030456781
NM_003738.5(PTCH2):c.200G>C (p.Gly67Ala)
NM_003738.5(PTCH2):c.2018G>A (p.Arg673His) rs760548568
NM_003738.5(PTCH2):c.2018G>T (p.Arg673Leu) rs760548568
NM_003738.5(PTCH2):c.2019del (p.Tyr674fs)
NM_003738.5(PTCH2):c.2029G>C (p.Ala677Pro) rs1557644638
NM_003738.5(PTCH2):c.202G>A (p.Ala68Thr)
NM_003738.5(PTCH2):c.2033_2054dup (p.Lys686fs) rs1653233688
NM_003738.5(PTCH2):c.2048C>T (p.Ser683Leu)
NM_003738.5(PTCH2):c.2055_2056delinsCG (p.Lys686Glu)
NM_003738.5(PTCH2):c.2059G>T (p.Ala687Ser) rs2148875596
NM_003738.5(PTCH2):c.2074C>T (p.Leu692Phe)
NM_003738.5(PTCH2):c.2107G>A (p.Gly703Arg)
NM_003738.5(PTCH2):c.2148G>A (p.Val716=)
NM_003738.5(PTCH2):c.215G>A (p.Gly72Asp)
NM_003738.5(PTCH2):c.2162C>T (p.Thr721Ile) rs1653221535
NM_003738.5(PTCH2):c.2174C>G (p.Ala725Gly) rs1243955468
NM_003738.5(PTCH2):c.2177T>C (p.Phe726Ser)
NM_003738.5(PTCH2):c.2178C>A (p.Phe726Leu) rs1573645770
NM_003738.5(PTCH2):c.2180T>G (p.Leu727Arg) rs2148875486
NM_003738.5(PTCH2):c.2185G>A (p.Ala729Thr) rs765415578
NM_003738.5(PTCH2):c.2185G>T (p.Ala729Ser)
NM_003738.5(PTCH2):c.220C>T (p.Arg74Cys)
NM_003738.5(PTCH2):c.2247C>A (p.Tyr749Ter) rs779837932
NM_003738.5(PTCH2):c.2252A>T (p.His751Leu)
NM_003738.5(PTCH2):c.2257del (p.Gln753fs) rs1653215847
NM_003738.5(PTCH2):c.2260C>A (p.Arg754Ser)
NM_003738.5(PTCH2):c.2263G>C (p.Ala755Pro)
NM_003738.5(PTCH2):c.2275C>A (p.Leu759Met) rs2148875383
NM_003738.5(PTCH2):c.2276T>A (p.Leu759Gln) rs2148875381
NM_003738.5(PTCH2):c.2290A>G (p.Ser764Gly) rs769359308
NM_003738.5(PTCH2):c.2308C>A (p.Leu770Met)
NM_003738.5(PTCH2):c.2312C>A (p.Pro771His)
NM_003738.5(PTCH2):c.2312C>T (p.Pro771Leu)
NM_003738.5(PTCH2):c.2318C>T (p.Pro773Leu) rs1404906503
NM_003738.5(PTCH2):c.2335C>G (p.Arg779Gly) rs745750666
NM_003738.5(PTCH2):c.2335C>T (p.Arg779Cys)
NM_003738.5(PTCH2):c.2336G>A (p.Arg779His) rs45493198
NM_003738.5(PTCH2):c.2336G>C (p.Arg779Pro)
NM_003738.5(PTCH2):c.2354A>G (p.Tyr785Cys)
NM_003738.5(PTCH2):c.2361C>G (p.Asn787Lys) rs1573645402
NM_003738.5(PTCH2):c.2366T>C (p.Leu789Pro)
NM_003738.5(PTCH2):c.236A>C (p.Glu79Ala)
NM_003738.5(PTCH2):c.2370G>A (p.Gln790=)
NM_003738.5(PTCH2):c.2372G>A (p.Gly791Glu) rs1653198432
NM_003738.5(PTCH2):c.2379G>C (p.Gln793His)
NM_003738.5(PTCH2):c.2381C>G (p.Ala794Gly)
NM_003738.5(PTCH2):c.2411G>A (p.Arg804His) rs770837969
NM_003738.5(PTCH2):c.2416A>G (p.Thr806Ala)
NM_003738.5(PTCH2):c.2417C>A (p.Thr806Asn) rs139683072
NM_003738.5(PTCH2):c.2426C>T (p.Ser809Leu)
NM_003738.5(PTCH2):c.2432G>T (p.Arg811Leu) rs112613379
NM_003738.5(PTCH2):c.2435A>G (p.Asn812Ser) rs1218095612
NM_003738.5(PTCH2):c.246G>T (p.Leu82Phe) rs1182782050
NM_003738.5(PTCH2):c.2479A>T (p.Thr827Ser)
NM_003738.5(PTCH2):c.2483G>C (p.Gly828Ala) rs761925367
NM_003738.5(PTCH2):c.2486_2487delinsTT (p.Asp829Val) rs1553165053
NM_003738.5(PTCH2):c.2487C>A (p.Asp829Glu) rs2295996
NM_003738.5(PTCH2):c.2488G>A (p.Ala830Thr)
NM_003738.5(PTCH2):c.250C>G (p.Gln84Glu)
NM_003738.5(PTCH2):c.2510_2511delinsTT (p.Ser837Ile)
NM_003738.5(PTCH2):c.253C>T (p.Leu85Phe)
NM_003738.5(PTCH2):c.2540G>A (p.Arg847Lys) rs2148874807
NM_003738.5(PTCH2):c.2542G>A (p.Glu848Lys)
NM_003738.5(PTCH2):c.2553dup (p.Pro852fs)
NM_003738.5(PTCH2):c.2560G>A (p.Glu854Lys)
NM_003738.5(PTCH2):c.2572A>G (p.Met858Val)
NM_003738.5(PTCH2):c.2572A>T (p.Met858Leu) rs374498312
NM_003738.5(PTCH2):c.2576G>A (p.Gly859Glu)
NM_003738.5(PTCH2):c.2582C>G (p.Thr861Ser) rs1452021020
NM_003738.5(PTCH2):c.2582C>T (p.Thr861Ile)
NM_003738.5(PTCH2):c.2584G>C (p.Val862Leu)
NM_003738.5(PTCH2):c.2602C>A (p.Pro868Thr) rs1377075089
NM_003738.5(PTCH2):c.2605C>G (p.Leu869Val)
NM_003738.5(PTCH2):c.2605dup (p.Leu869fs) rs1553165035
NM_003738.5(PTCH2):c.2642C>G (p.Pro881Arg)
NM_003738.5(PTCH2):c.2642C>T (p.Pro881Leu)
NM_003738.5(PTCH2):c.2642dup (p.Pro882fs) rs1337855606
NM_003738.5(PTCH2):c.2651A>G (p.Glu884Gly)
NM_003738.5(PTCH2):c.2665_2666insTTCAGGGG (p.Lys889fs) rs2148874605
NM_003738.5(PTCH2):c.2668T>C (p.Tyr890His)
NM_003738.5(PTCH2):c.266T>C (p.Val89Ala) rs752129680
NM_003738.5(PTCH2):c.2671G>A (p.Asp891Asn)
NM_003738.5(PTCH2):c.2699C>T (p.Pro900Leu)
NM_003738.5(PTCH2):c.2711C>T (p.Pro904Leu)
NM_003738.5(PTCH2):c.2728T>A (p.Phe910Ile) rs2148874300
NM_003738.5(PTCH2):c.2744G>A (p.Arg915His)
NM_003738.5(PTCH2):c.274C>T (p.Arg92Trp)
NM_003738.5(PTCH2):c.2754G>C (p.Gln918His) rs2148874271
NM_003738.5(PTCH2):c.277G>C (p.Val93Leu) rs145784624
NM_003738.5(PTCH2):c.2788G>A (p.Ala930Thr)
NM_003738.5(PTCH2):c.2791C>T (p.Arg931Trp)
NM_003738.5(PTCH2):c.2842G>A (p.Gly948Ser)
NM_003738.5(PTCH2):c.2845_2846delinsAA (p.Ser949Asn)
NM_003738.5(PTCH2):c.2849C>T (p.Pro950Leu)
NM_003738.5(PTCH2):c.2854C>G (p.Leu952Val)
NM_003738.5(PTCH2):c.287A>T (p.Glu96Val)
NM_003738.5(PTCH2):c.2881C>T (p.Arg961Trp)
NM_003738.5(PTCH2):c.2885G>A (p.Arg962His)
NM_003738.5(PTCH2):c.2893del (p.Leu965fs)
NM_003738.5(PTCH2):c.2908A>G (p.Ile970Val)
NM_003738.5(PTCH2):c.2925_2926insGCT (p.Thr975_Phe976insAla) rs1459615294
NM_003738.5(PTCH2):c.2927T>C (p.Phe976Ser) rs2148874033
NM_003738.5(PTCH2):c.2944_2945delinsGG (p.Leu982Gly) rs2148874009
NM_003738.5(PTCH2):c.2950C>T (p.Leu984Phe)
NM_003738.5(PTCH2):c.2969G>A (p.Gly990Asp)
NM_003738.5(PTCH2):c.2976+1G>A
NM_003738.5(PTCH2):c.2977-2A>G
NM_003738.5(PTCH2):c.2977-5C>A rs950394831
NM_003738.5(PTCH2):c.2996T>C (p.Met999Thr) rs149189451
NM_003738.5(PTCH2):c.3010T>C (p.Phe1004Leu)
NM_003738.5(PTCH2):c.3011_3012del (p.Phe1004fs) rs2148873780
NM_003738.5(PTCH2):c.3020T>C (p.Met1007Thr) rs973768191
NM_003738.5(PTCH2):c.3041T>A (p.Leu1014Gln)
NM_003738.5(PTCH2):c.3083T>C (p.Ile1028Thr) rs371907442
NM_003738.5(PTCH2):c.3088G>A (p.Val1030Ile)
NM_003738.5(PTCH2):c.308A>C (p.Lys103Thr)
NM_003738.5(PTCH2):c.3106G>A (p.Val1036Met)
NM_003738.5(PTCH2):c.3107T>G (p.Val1036Gly) rs1653137067
NM_003738.5(PTCH2):c.3128C>T (p.Thr1043Ile)
NM_003738.5(PTCH2):c.313G>A (p.Gly105Arg)
NM_003738.5(PTCH2):c.3140G>A (p.Arg1047Gln)
NM_003738.5(PTCH2):c.3149G>A (p.Arg1050Gln) rs761953363
NM_003738.5(PTCH2):c.3158A>G (p.His1053Arg) rs1573639533
NM_003738.5(PTCH2):c.3161C>A (p.Ala1054Asp)
NM_003738.5(PTCH2):c.3182C>T (p.Pro1061Leu)
NM_003738.5(PTCH2):c.31C>T (p.Pro11Ser) rs1573666565
NM_003738.5(PTCH2):c.3258-5_3258-3delinsTAGTACCTAGG rs1652986505
NM_003738.5(PTCH2):c.3258-6_3258-5insTAGTA
NM_003738.5(PTCH2):c.3258-7C>A
NM_003738.5(PTCH2):c.3258G>C (p.Arg1086Ser) rs908352571
NM_003738.5(PTCH2):c.3272C>A (p.Ala1091Glu)
NM_003738.5(PTCH2):c.3272C>T (p.Ala1091Val) rs369600860
NM_003738.5(PTCH2):c.3284T>C (p.Leu1095Pro) rs1379984001
NM_003738.5(PTCH2):c.3286A>G (p.Thr1096Ala)
NM_003738.5(PTCH2):c.3286dup (p.Thr1096fs) rs1652984337
NM_003738.5(PTCH2):c.3301C>T (p.Leu1101Phe)
NM_003738.5(PTCH2):c.3313G>A (p.Val1105Met)
NM_003738.5(PTCH2):c.3314TGC[4] (p.Leu1107dup) rs2148871672
NM_003738.5(PTCH2):c.3329T>C (p.Leu1110Pro)
NM_003738.5(PTCH2):c.3352C>T (p.Pro1118Ser)
NM_003738.5(PTCH2):c.3358-3C>T
NM_003738.5(PTCH2):c.335C>T (p.Ser112Phe)
NM_003738.5(PTCH2):c.3373A>G (p.Lys1125Glu)
NM_003738.5(PTCH2):c.3382C>T (p.Pro1128Ser)
NM_003738.5(PTCH2):c.3392T>C (p.Leu1131Pro) rs1463079757
NM_003738.5(PTCH2):c.3403del (p.Ala1135fs)
NM_003738.5(PTCH2):c.3410A>C (p.Gln1137Pro) rs1652957871
NM_003738.5(PTCH2):c.3410A>G (p.Gln1137Arg) rs1652957871
NM_003738.5(PTCH2):c.3413G>A (p.Gly1138Glu)
NM_003738.5(PTCH2):c.3416G>C (p.Gly1139Ala)
NM_003738.5(PTCH2):c.3427T>G (p.Trp1143Gly) rs1573638370
NM_003738.5(PTCH2):c.3430G>A (p.Gly1144Arg)
NM_003738.5(PTCH2):c.3433G>A (p.Ala1145Thr)
NM_003738.5(PTCH2):c.3454A>G (p.Ser1152Gly) rs772146260
NM_003738.5(PTCH2):c.3473C>T (p.Thr1158Ile)
NM_003738.5(PTCH2):c.3479T>C (p.Met1160Thr) rs576908403
NM_003738.5(PTCH2):c.3487G>A (p.Ala1163Thr)
NM_003738.5(PTCH2):c.3505del (p.Leu1169fs) rs763413121
NM_003738.5(PTCH2):c.3505dup (p.Leu1169fs)
NM_003738.5(PTCH2):c.3524A>G (p.His1175Arg)
NM_003738.5(PTCH2):c.3529G>T (p.Ala1177Ser)
NM_003738.5(PTCH2):c.3539_3542dup (p.Pro1182fs) rs2148871039
NM_003738.5(PTCH2):c.3553C>T (p.Pro1185Ser) rs1162501288
NM_003738.5(PTCH2):c.355G>A (p.Ala119Thr)
NM_003738.5(PTCH2):c.3580A>C (p.Ser1194Arg)
NM_003738.5(PTCH2):c.3584C>T (p.Ser1195Phe)
NM_003738.5(PTCH2):c.358C>T (p.Arg120Cys)
NM_003738.5(PTCH2):c.3590del (p.Gly1197fs)
NM_003738.5(PTCH2):c.3596G>A (p.Gly1199Asp)
NM_003738.5(PTCH2):c.359G>A (p.Arg120His)
NM_003738.5(PTCH2):c.359G>T (p.Arg120Leu) rs200617096
NM_003738.5(PTCH2):c.3601G>C (p.Ala1201Pro)
NM_003738.5(PTCH2):c.386C>T (p.Pro129Leu) rs1421459206
NM_003738.5(PTCH2):c.38G>A (p.Ser13Asn) rs1654018544
NM_003738.5(PTCH2):c.390dup (p.Ala131fs) rs756226400
NM_003738.5(PTCH2):c.395T>C (p.Leu132Pro)
NM_003738.5(PTCH2):c.400C>T (p.Leu134Phe)
NM_003738.5(PTCH2):c.403C>A (p.His135Asn) rs1573653288
NM_003738.5(PTCH2):c.406C>T (p.Leu136Phe)
NM_003738.5(PTCH2):c.456-1G>T
NM_003738.5(PTCH2):c.484A>G (p.Lys162Glu)
NM_003738.5(PTCH2):c.497C>T (p.Pro166Leu)
NM_003738.5(PTCH2):c.50del (p.Pro17fs) rs1654017720
NM_003738.5(PTCH2):c.515T>C (p.Met172Thr)
NM_003738.5(PTCH2):c.516G>A (p.Met172Ile) rs765585001
NM_003738.5(PTCH2):c.524G>T (p.Arg175Leu) rs745322399
NM_003738.5(PTCH2):c.525+3A>G
NM_003738.5(PTCH2):c.525+6T>C
NM_003738.5(PTCH2):c.525+6T>G
NM_003738.5(PTCH2):c.527T>G (p.Met176Arg) rs571129554
NM_003738.5(PTCH2):c.528G>A (p.Met176Ile)
NM_003738.5(PTCH2):c.533_548del (p.Glu178fs) rs1573652573
NM_003738.5(PTCH2):c.554T>C (p.Ile185Thr)
NM_003738.5(PTCH2):c.563C>A (p.Pro188His) rs372784104
NM_003738.5(PTCH2):c.563C>G (p.Pro188Arg)
NM_003738.5(PTCH2):c.565del (p.Leu189fs)
NM_003738.5(PTCH2):c.586del (p.Ala196fs)
NM_003738.5(PTCH2):c.607G>A (p.Ala203Thr)
NM_003738.5(PTCH2):c.618-6C>A rs924268501
NM_003738.5(PTCH2):c.619G>T (p.Gly207Cys)
NM_003738.5(PTCH2):c.61G>A (p.Ala21Thr)
NM_003738.5(PTCH2):c.626C>T (p.Pro209Leu) rs372348401
NM_003738.5(PTCH2):c.632T>A (p.Ile211Asn) rs2148879284
NM_003738.5(PTCH2):c.639del (p.Gln212_Trp213insTer) rs1653421669
NM_003738.5(PTCH2):c.659dup (p.Leu221fs)
NM_003738.5(PTCH2):c.65C>A (p.Ala22Glu) rs1654015404
NM_003738.5(PTCH2):c.665T>G (p.Leu222Arg) rs754175246
NM_003738.5(PTCH2):c.668A>G (p.Glu223Gly) rs1393241791
NM_003738.5(PTCH2):c.680C>T (p.Pro227Leu)
NM_003738.5(PTCH2):c.718A>G (p.Lys240Glu) rs2148879183
NM_003738.5(PTCH2):c.72+5G>T rs1417599434
NM_003738.5(PTCH2):c.738C>G (p.Ala246=) rs58079936
NM_003738.5(PTCH2):c.748C>T (p.Arg250Trp)
NM_003738.5(PTCH2):c.749G>A (p.Arg250Gln)
NM_003738.5(PTCH2):c.773_775del (p.Leu258del) rs1173101594
NM_003738.5(PTCH2):c.788G>A (p.Ser263Asn) rs77102909
NM_003738.5(PTCH2):c.788G>C (p.Ser263Thr) rs77102909
NM_003738.5(PTCH2):c.791C>A (p.Ala264Asp) rs1653415175
NM_003738.5(PTCH2):c.800A>G (p.His267Arg) rs2148879096
NM_003738.5(PTCH2):c.811dup (p.Gln271fs) rs1653413924
NM_003738.5(PTCH2):c.815C>T (p.Ala272Val)
NM_003738.5(PTCH2):c.839G>C (p.Ser280Thr)
NM_003738.5(PTCH2):c.850C>A (p.His284Asn) rs1553165436
NM_003738.5(PTCH2):c.853G>C (p.Gly285Arg)
NM_003738.5(PTCH2):c.858C>A (p.Phe286Leu) rs759340277
NM_003738.5(PTCH2):c.860C>A (p.Ser287Tyr) rs1458470156
NM_003738.5(PTCH2):c.873G>T (p.Met291Ile)
NM_003738.5(PTCH2):c.88C>G (p.Leu30Val)
NM_003738.5(PTCH2):c.905T>G (p.Met302Arg)
NM_003738.5(PTCH2):c.935G>A (p.Arg312Lys) rs1653355659
NM_003738.5(PTCH2):c.936-1G>A
NM_003738.5(PTCH2):c.939_946del (p.Glu314fs) rs2148878116
NM_003738.5(PTCH2):c.940G>C (p.Glu314Gln)
NM_003738.5(PTCH2):c.944C>T (p.Ala315Val)
NM_003738.5(PTCH2):c.969G>A (p.Met323Ile)
NM_003738.5(PTCH2):c.976C>T (p.Arg326Cys)
NM_003738.5(PTCH2):c.97C>G (p.Pro33Ala) rs1553166486
NM_003738.5(PTCH2):c.991C>T (p.His331Tyr)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.