Unique variants in the PTCH1 gene

Information The variants shown are described using the NM_000264.3 transcript reference sequence.

555 entries on 6 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 1 - c.? r.? p.? - pathogenic g.? - Inv (9)(q21.2q33.1) untraceable in publication - PTCH1_000000 - PubMed: Endo 2009 - - Unknown - - - - - Michel van Geel
+/. 1 _1_24_ c.(?_-340192)_(*2301659_?)del r.0? p.0? - pathogenic g.(?_95907016)_(98610835_?)dup - - - PTCH1_000000 - PubMed: Izumi 2011 - - Unknown - - - - - Michel van Geel
+/. 1 _1_24_ c.-107315_*190107dup r.? p.? - pathogenic g.98018568_98377958dup g.95256286_95615676dup - - PTCH1_000448 - PubMed: Derwinska 2009 - - Unknown - - - - - Michel van Geel
+?/. 1 _1 c.-8456delG - - - likely pathogenic g.98279100del g.95516818del NM_001083603.1:c.4delG p.(Glu2Asnfs*9) - PTCH1_000457 - PubMed: Chassaing 2016 - - Germline - - - - - Michel van Geel
-?/. 1 - c.-8375G>C r.(?) p.(=) - likely benign g.98279018C>G g.95516736C>G PTCH1(NM_001083603.2):c.85G>C (p.G29R) - PTCH1_000666 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.-8329A>G r.(?) p.(=) - likely benign g.98278972T>C g.95516690T>C PTCH1(NM_001083602.1):c.-219A>G (p.(=)), PTCH1(NM_001083603.2):c.131A>G (p.E44G) - PTCH1_000664 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/. 1 - c.-8318_-8316dup r.(?) p.(=) - benign g.98278972_98278974dup g.95516690_95516692dup PTCH1(NM_001083603.2):c.142_144dupGAA (p.E48dup) - PTCH1_000665 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 _1_2i c.(?_-188)_(394+1_395-1)del r.(?) p.? - pathogenic g.(98248157_98268688)_(98270831_?)del - - - PTCH1_000516 - Reinders et al, accepted in Molecular Genetics & Genomic Medicine - - Unknown - - - - - Michel van Geel
+/+, +/. 15 _1_24_ c.(?_-188)_(*3411_?)del r.0? p.(?), p.0? - pathogenic g.(?_98205264)_(98270831_?)del, g.98205264_98270831del g.95442982_95508549del deletion entire PTCH gene, whole PTCH1 gene deletion - PTCH1_000292 - Reinders et al, accepted in Molecular Genetics & Genomic Medicine, PubMed: Aradhya 2012, 8 more items - - Unknown - - - - - Michel van Geel
+/. 1 _1 c.? r.? p.(?) - pathogenic g.98696759_105723255del - 5' adjecent to gene - PTCH1_000000 - PubMed: Ibn-Salem 2014 - - Unknown - - - - - Michel van Geel
-?/. 1 - c.-9_-4del r.(?) p.(=) - likely benign g.98270664_98270669del g.95508382_95508387del - - PTCH1_000660 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-9_-4dup r.(?) p.(=) - likely benign g.98270664_98270669dup g.95508382_95508387dup - - PTCH1_000673 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/., ?/. 5 1 c.-6_-4dup r.(=), r.(?) p.(=) - benign, likely benign, VUS g.98270667_98270669dup g.95508385_95508387dup CGG 8x, PTCH1(NM_000264.3):c.-6_-4dupGGC, PTCH1(NM_001083602.1):c.4-1768_4-1766dupGGC - PTCH1_000291 VKGL data sharing initiative Nederland PubMed: Tietze 2013 - rs71366293 CLASSIFICATION record, Germline, Unknown - - - - - Michel van Geel, Andreas Laner, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_NKI
+?/+? 1 2i_12i c.(394+1_395-1)_(1728+1_1729-1)(2) r.(?) p.? - likely pathogenic g.(98224281_98229397)_(98248157_98268688)(2) - - - PTCH1_000452 - Reinders et al, accepted in Molecular Genetics & Genomic Medicine - - Unknown - - - - - Michel van Geel
+?/+? 1 2i_16i c.(394+1_395-1)_(2703+1_2704-1)(2) r.(?) p.(?) - likely pathogenic g.(98222066_98224137)_(98248157_98268688)(2) - - - PTCH1_000454 de novo Reinders et al, accepted in Molecular Genetics & Genomic Medicine - - De novo - - - - - Michel van Geel
+/. 1 16 c.2608_?delins? r.? p.? - pathogenic g.98224233_?delins? - 2596complex (del and ins) - PTCH1_000000 - PubMed: Wicking 1997 - - Unknown - - - - - Michel van Geel
-?/., ?/. 2 - c.37C>G r.(?) p.(Arg13Gly) - likely benign, VUS g.98270607G>C g.95508325G>C PTCH1(NM_000264.3):c.37C>G (p.R13G, p.(Arg13Gly)) - PTCH1_000614 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/. 1 - c.109G>C r.(?) p.(Gly37Arg) - benign g.98270535C>G g.95508253C>G PTCH1(NM_000264.3):c.109G>C (p.G37R) - PTCH1_000613 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/., ?/. 3 1 c.113G>A r.(?) p.(Gly38Glu) - likely benign, VUS g.98270531C>T g.95508249C>T g.13717G>A, PTCH1(NM_000264.3):c.113G>A (p.G38E) - PTCH1_000550 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Julia Täubner, VKGL-NL_Nijmegen
-?/. 2 - c.113G>T r.(?) p.(Gly38Val) - likely benign g.98270531C>A g.95508249C>A PTCH1(NM_000264.3):c.113G>T (p.G38V) - PTCH1_000612 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/+, +/. 2 1 c.114del r.(?) p.(Leu39Cysfs*41), p.(Leu39CysfsTer41) - pathogenic g.98270536del g.95508254del - - PTCH1_000526 VKGL data sharing initiative Nederland PubMed: Reinders 2018 PubMed: Gielen 2018 - - CLASSIFICATION record, De novo - - - - - Michel van Geel, VKGL-NL_Nijmegen
+/. 1 - c.122del r.(?) p.(Arg41Leufs*39) - pathogenic g.98270522del - - - PTCH1_000708 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.127G>A r.(?) p.(Ala43Thr) - likely benign g.98270517C>T g.95508235C>T PTCH1(NM_000264.3):c.127G>A (p.A43T) - PTCH1_000657 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.148_149del r.(?) p.(Leu50AlafsTer39) - VUS g.98270496_98270497del - - - PTCH1_000696 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 - c.174C>T r.(?) p.(Ala58=) - likely benign, VUS g.98270470G>A g.95508188G>A PTCH1(NM_000264.3):c.174C>T (p.A58=) - PTCH1_000656 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.181G>A r.(?) p.(Ala61Thr) - likely benign g.98270463C>T g.95508181C>T PTCH1(NM_000264.3):c.181G>A (p.(Ala61Thr)) - PTCH1_000672 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.202-2A>C r.spl? p.? - likely pathogenic g.98268883T>G g.95506601T>G - - PTCH1_000655 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 1i c.202-2A>G r.spl? p.? - likely pathogenic g.98268883T>C g.95506601T>C - - PTCH1_000525 - Reinders et al, accepted in Molecular Genetics & Genomic Medicine - - Unknown - - - - - Michel van Geel
+/+ 1 2 c.205A>T r.(?) p.(Lys69*) - pathogenic g.98268878T>A g.95506596T>A - - PTCH1_000524 - Reinders et al, accepted in Molecular Genetics & Genomic Medicine - - Unknown - - - - - Michel van Geel
+/. 1 2 c.222del r.(?) p.(Ala75Argfs*5) - pathogenic g.98268863del g.95506581del - - PTCH1_000222 - PubMed: Savino 2004 - - Unknown - - - - - Michel van Geel
+/. 1 2 c.233G>A r.(?) p.(Trp78*) - pathogenic g.98268850C>T g.95506568C>T - - PTCH1_000356 - PubMed: Guo 2013 - - Unknown - - - - - Michel van Geel
+/. 1 2 c.240_241del r.(?) p.(Arg80Serfs*9) - pathogenic g.98268845_98268846del g.95506563_95506564del 240_241delAG - PTCH1_000360 - PubMed: Takahashi 2009 - - Unknown - - - - - Michel van Geel
+/. 1 - c.244_245del r.(?) p.(Lys82ValfsTer7) - pathogenic g.98268838_98268839del g.95506556_95506557del PTCH1(NM_001083602.1):c.46_47delAA (p.K16Vfs*7) - PTCH1_000611 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 2 c.250C>T r.(?) p.(Gln84*) - pathogenic g.98268833G>A g.95506551G>A - - PTCH1_000065 - PubMed: Savino 2004 - - Unknown - - - - - Michel van Geel
+/+, +/. 2 2 c.254_255del r.(?) p.(Arg85Thrfs*4) - pathogenic g.98268831_98268832del g.95506549_95506550del 254_255delGA - PTCH1_000104, PTCH1_000523 - Reinders et al, accepted in Molecular Genetics & Genomic Medicine, PubMed: Marsh 2005 - - Germline, Unknown yes - - - - Michel van Geel
+/+, +/. 6 2 c.258_259del r.(?) p.(Leu87Ilefs*2), p.(Leu87IlefsTer2) - pathogenic g.98268826_98268827del g.95506544_95506545del 244delCT - PTCH1_000202 VKGL data sharing initiative Nederland, 1 more item Reinders et al, accepted in Molecular Genetics & Genomic Medicine, PubMed: Wicking 1997, 2 more items - - CLASSIFICATION record, De novo, Germline, Unknown - - - - - Michel van Geel, VKGL-NL_Nijmegen
+/. 1 2 c.260_264delinsAA r.(?) p.(Leu87*) - pathogenic g.98268819_98268823delinsTT g.95506537_95506541delinsTT 260_264delTATTTinsAA - PTCH1_000270 - PubMed: Boutet 2003 - - Unknown - - - - - Michel van Geel
+/. 1 2 c.262_265del r.(?) p.(Phe88Asnfs*28) - pathogenic g.98268821_98268824del g.95506539_95506542del 262_265delTTTA - PTCH1_000135 - PubMed: Klein 2005 - - Unknown - - - - - Michel van Geel
+/+, +/. 2 2 c.262_266del r.(?) p.(Phe88Thrfs*50) - pathogenic g.98268818_98268822del g.95506536_95506540del PTCH1(NM_000264.3):c.262_266delTTTAA (p.F88Tfs*50) - PTCH1_000522 VKGL data sharing initiative Nederland Reinders et al, accepted in Molecular Genetics & Genomic Medicine - - CLASSIFICATION record, Unknown - - - - - Michel van Geel, VKGL-NL_Groningen
?/. 1 - c.271G>T r.(?) p.(Gly91Cys) - VUS g.98268812C>A g.95506530C>A PTCH1(NM_000264.3):c.271G>T (p.(Gly91Cys)) - PTCH1_000671 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 2 c.271_293del r.(?) p.(Gly91Argfs*41) - pathogenic g.98268796_98268818del g.95506514_95506536del 253del23 - PTCH1_000234 - PubMed: Unden 1996 - - Germline yes - - - - Michel van Geel
+/. 1 2 c.279C>A r.(?) p.(Tyr93*) - pathogenic g.98268804G>T g.95506522G>T C279A - PTCH1_000375 - PubMed: Minami 2001 - - De novo - - - - - Michel van Geel
+/+ 1 2 c.279C>G r.(?) p.(Tyr93*) - pathogenic g.98268804G>C g.95506522G>C - - PTCH1_000521 - Reinders et al, accepted in Molecular Genetics & Genomic Medicine - - Unknown - - - - - Michel van Geel
+/. 1 2 c.280dup r.(?) p.(Ile94Asnfs*46) - pathogenic g.98268803dup g.95506521dup - - PTCH1_000048 - PubMed: Boutet 2003 - - Unknown - - - - - Michel van Geel
+/. 1 2 c.282dup r.(?) p.(Gln95Serfs*45) - pathogenic g.98268802dup g.95506520dup 269insT - PTCH1_000213 - PubMed: Chidambaram 1996 - - Germline - - - - - Michel van Geel
+/. 1 2 c.289_290delinsC r.(?) p.(Asn97Profs*20) - pathogenic g.98268793_98268794delinsG g.95506511_95506512delinsG 277AA>C - PTCH1_000211 - PubMed: Chidambaram 1996 - - Germline - - - - - Michel van Geel
+/. 1 2 c.290del r.(?) p.(Asn97Thrfs*20) - pathogenic g.98268799del g.95506517del - - PTCH1_000379 - PubMed: Wilson 2006 - - Unknown - - - - - Michel van Geel
+/. 1 2 c.290dup r.(?) p.(Asn97Lysfs*43) - pathogenic g.98268799dup g.95506517dup 271insA - PTCH1_000224 Negative family history but neither parent examined. PubMed: Wicking 1997,PubMed: Wicking 1997 - - De novo - - - - - Michel van Geel
+/+ 1 2 c.294C>A r.(?) p.(Cys98*) - pathogenic g.98268789G>T g.95506507G>T - - PTCH1_000520 - Reinders et al, accepted in Molecular Genetics & Genomic Medicine - - Unknown - - - - - Michel van Geel
+/. 1 2 c.305T>A r.(?) p.(Leu102*) - pathogenic g.98268778A>T g.95506496A>T - - PTCH1_000066 - PubMed: Savino 2004 - - Unknown - - - - - Michel van Geel
+/. 1 2 c.317T>G r.(?) p.(Leu106Arg) - pathogenic g.98268766A>C g.95506484A>C - - PTCH1_000110 - PubMed: Li 2008 - - Unknown - - - - - Michel van Geel
-/., -?/. 2 - c.318C>T r.(=), r.(?) p.(=), p.(Leu106=) - benign, likely benign g.98268765G>A g.95506483G>A PTCH1(NM_000264.3):c.318C>T (p.L106=) - PTCH1_000610 14 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs1805153 CLASSIFICATION record, Germline - 14/2795 individuals - - - VKGL-NL_VUmc, Mohammed Faruq
?/. 1 - c.319_321del r.(?) p.(Leu107del) - VUS g.98268766_98268768del - PTCH1(NM_001083602.1):c.121_123delCTC (p.L41del) - PTCH1_000702 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.323_324insGA r.(?) p.(Ile108Metfs*10) - pathogenic g.98268759_98268760insTC g.95506477_95506478insTC 323_324insGA - PTCH1_000391 - PubMed: Pastorino 2005 - - Unknown - - - - - Michel van Geel
+/. 1 2 c.328G>C r.(?) p.(Gly110Arg) - pathogenic g.98268755C>G g.95506473C>G - - PTCH1_000396 - PubMed: Tanioka 2005 - - Unknown - - - - - Michel van Geel
+/. 1 2 c.331del r.(?) p.(Ala111Profs*6) - pathogenic g.98268755del g.95506473del - - PTCH1_000108 - PubMed: Klein 2005 - - Unknown - - - - - Michel van Geel
+/. 1 - c.343G>T r.(?) p.(Gly115*) - pathogenic g.98268740C>A g.95506458C>A - - PTCH1_000681 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs794727242 Germline - 1/2795 individuals - - - Mohammed Faruq
+/. 1 3 c.379G>T r.(?) p.(Glu127*) - pathogenic g.98268704C>A g.95506422C>A - - PTCH1_000125 - PubMed: Klein 2005 - - Unknown - - - - - Michel van Geel
+?/. 1 2 c.383T>C r.(?) p.(Leu128Pro) - pathogenic (dominant) g.98268700A>G - 383C>T - PTCH1_000693 - - - - Germline - - - - - Pascal Soularue
+/+ 1 2 c.385_386dup r.(?) p.(Trp129Cysfs*9) - pathogenic g.98268699_98268700dup g.95506417_95506418dup - - PTCH1_000519 - Reinders et al, accepted in Molecular Genetics & Genomic Medicine - - Unknown - - - - - Michel van Geel
+/. 1 3 c.386G>A r.(?) p.(Trp129*) - pathogenic g.98268697C>T g.95506415C>T - - PTCH1_000407 - PubMed: Soufir 2006 - - Unknown - - - - - Michel van Geel
+/. 1 3 c.387G>A r.(?) p.(Trp129*) - pathogenic g.98268696C>T g.95506414C>T - - PTCH1_000188 - PubMed: Suzuki 2012 - - Unknown - - - - - Michel van Geel
+/+ 1 2i_24_ c.(393+1_394-1)_(*3411_?)del r.(?) p.? - pathogenic g.(?_98205264)_(98248157_98268688)del - - - PTCH1_000455 - Reinders et al, accepted in Molecular Genetics & Genomic Medicine - - Unknown - - - - - Michel van Geel
+?/+? 1 2i c.394+1G>A r.spl p.? - likely pathogenic g.98268688C>T g.95506406C>T - - PTCH1_000517 - Reinders et al, accepted in Molecular Genetics & Genomic Medicine - - Germline - - - - - Michel van Geel
+?/+? 1 2i c.394+1G>C r.spl? p.? - likely pathogenic g.98268688C>G g.95506406C>G - - PTCH1_000518 - Reinders et al, accepted in Molecular Genetics & Genomic Medicine - - Germline - - - - - Michel van Geel
+/+, +/. 3 3 c.403C>T r.(?) p.(Arg135*) - pathogenic g.98248148G>A g.95485866G>A C391T - PTCH1_000447 1 more item Reinders et al accepted in Molecular Genetics & Genomic Medicine, 2 more items - - De novo, Germline - - - - - Michel van Geel
+/. 1 3 c.426dup r.(?) p.(Thr143Tyrfs*12) - pathogenic g.98248125dup g.95485843dup 426dupT - PTCH1_000410 - Okamoto 2014 Hum Genome Var 1 - - Unknown - - - - - Michel van Geel
+/. 1 3 c.459del r.(?) p.(Phe153Leufs*6) - pathogenic g.98248094del g.95485812del - - PTCH1_000411 - PubMed: Nagao 2005 - - Unknown - - - - - Michel van Geel
+/+ 1 3 c.466C>T r.(?) p.(Gln156*) - pathogenic g.98248085G>A g.95485803G>A - - PTCH1_000515 - Reinders et al accepted in Molecular Genetics & Genomic Medicine - - Germline - - - - - Michel van Geel
+/. 1 3 c.478C>T r.(?) p.(Gln160*) - pathogenic g.98248073G>A g.95485791G>A - - PTCH1_000080 - PubMed: Marsh 2005 - - Unknown - - - - - Michel van Geel
+/. 1 3 c.478_479dup r.(?) p.(Gln160Hisfs*12) - pathogenic g.98248073_98248074dup g.95485791_95485792dup 464insAC - PTCH1_000412 - PubMed: Wicking 1997 - - Unknown - - - - - Michel van Geel
+/+, +/. 2 3 c.479_482del r.(?), r.spl? p.(Gln160Profs*10) - pathogenic g.98248071_98248074del g.95485789_95485792del 667delAGAC - PTCH1_000413 - Reinders et al accepted in Molecular Genetics & Genomic Medicine, PubMed: Abe 2008 - - Unknown - - - - - Michel van Geel
?/. 1 - c.500C>A r.(?) p.(Ala167Asp) - VUS g.98248051G>T - PTCH1(NM_001083602.1):c.302C>A (p.A101D) - PTCH1_000709 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.522G>A r.(?) p.(Ala174=) - likely benign g.98248029C>T g.95485747C>T PTCH1(NM_001083602.1):c.324G>A (p.A108=) - PTCH1_000686 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.524T>C r.(?) p.(Leu175Pro) - likely pathogenic g.98248027A>G g.95485745A>G - - PTCH1_000620 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 3 c.531_533del r.(?) p.(Gln177del) - pathogenic g.98248021_98248023del g.95485739_95485741del 531_533delACA - PTCH1_000049 - PubMed: Boutet 2003 - - Unknown - - - - - Michel van Geel
+/. 2 3 c.534_545del r.(?) p.(His178_Ala182delinsGln) - pathogenic g.98248006_98248017del g.95485724_95485735del 534_545del12 - PTCH1_000414 - PubMed: Guo 2013 - - Unknown - - - - - Michel van Geel
+/. 1 3 c.550C>T r.(?) p.(Gln184*) - pathogenic g.98248001G>A g.95485719G>A - - PTCH1_000415 - PubMed: Endo 2009 - - Unknown - - - - - Michel van Geel
+?/+? 1 4i c.566_584+8del r.spl p.? - likely pathogenic g.98247961_98247987del g.95485679_95485705del - - PTCH1_000513 - Reinders et al accepted in Molecular Genetics & Genomic Medicine - - Unknown - - - - - Michel van Geel
+/+, +?/. 2 3 c.572_575dup r.(?) p.(Met192Ilefs*61), p.(Met192IlefsTer61) - likely pathogenic, pathogenic g.98247978_98247981dup g.95485696_95485699dup - - PTCH1_000514 VKGL data sharing initiative Nederland Reinders et al accepted in Molecular Genetics & Genomic Medicine - - CLASSIFICATION record, Unknown - - - - - Michel van Geel, VKGL-NL_Nijmegen
+/. 1 3 c.584G>A r.584_585ins584+1_584+37 p.(Arg195Lys) - pathogenic g.98247967C>T g.95485685C>T - - PTCH1_000417 - PubMed: Nagao 2005 - - Unknown - - - - - Michel van Geel
+/. 1 3i c.584+1G>A r.spl? p.? - pathogenic g.98247966C>T g.95485684C>T - - PTCH1_000416 - PubMed: Guo 2013 - - Unknown - - - - - Michel van Geel
+/. 1 3i c.584+2T>G r.spl? p.? - pathogenic g.98247965A>C g.95485683A>C - - PTCH1_000176 - PubMed: Fujii 2011 - - Unknown - - - - - Michel van Geel
+/. 1 3i c.585-1G>A r.spl? p.? - pathogenic g.98244486C>T g.95482204C>T - - PTCH1_000418 - PubMed: Pastorino 2012 - - Unknown - - - - - Michel van Geel
+/. 1 3i_24_ c.(584+1_585-1)_(*3411_?)del r.? p.(?) - pathogenic g.98205264_98244486del g.95442982_95482204del - - PTCH1_000297 - PubMed: Soufir 2006 - - Unknown - - - - - Michel van Geel
+/+ 1 4 c.591G>C r.(?) p.(Trp197Cys) - pathogenic g.98244479C>G g.95482197C>G - - PTCH1_000512 - Reinders et al accepted in Molecular Genetics & Genomic Medicine - - De novo - - - - - Michel van Geel
+/. 1 4 c.600del r.(?) p.(Glu200Aspfs*20) - pathogenic g.98244471del g.95482189del - - PTCH1_000444 - - - - Germline - - - - - Andreas Laner
+/. 1 - c.605del r.(?) p.(Leu202Cysfs*18) - pathogenic g.98244467del - PTCH1(NM_000264.3):c.605delT (p.L202Cfs*18) - PTCH1_000707 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 4i c.654+2T>A r.spl? p.? - pathogenic g.98244414A>T g.95482132A>T - - PTCH1_000419 - PubMed: Pastorino 2012 - - Unknown - - - - - Michel van Geel
+/. 1 4i c.655-2A>T r.spl? p.? - pathogenic g.98244324T>A g.95482042T>A - - PTCH1_000042 - PubMed: Pastorino 2005 - - Unknown - - - - - Michel van Geel
+?/+? 1 4i c.655-1G>A r.spl p.? - likely pathogenic g.98244323C>T g.95482041C>T - - PTCH1_000511 - Reinders et al accepted in Molecular Genetics & Genomic Medicine - - Unknown - - - - - Michel van Geel
+/. 1 5 c.661G>T r.(?) p.(Glu221*) - pathogenic g.98244316C>A g.95482034C>A - - PTCH1_000126 - PubMed: Klein 2005 - - Unknown - - - - - Michel van Geel
+/. 1 - c.666T>A r.(?) p.(Tyr222*) - pathogenic g.98244311A>T g.95482029A>T - - PTCH1_000680 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs863224487 Germline - 1/2788 individuals - - - Mohammed Faruq
+/. 1 5 c.672C>A r.(?) p.(Tyr224*) - pathogenic g.98244305G>T g.95482023G>T - - PTCH1_000050 - PubMed: Boutet 2003 - - Unknown - - - - - Michel van Geel
+/. 1 5 c.688A>C r.(?) p.(Thr230Pro) - pathogenic g.98244289T>G g.95482007T>G - - PTCH1_000067 - PubMed: Savino 2004 - - Unknown - - - - - Michel van Geel
+?/+? 1 5 c.689C>G r.(?) p.(Thr230Arg) - likely pathogenic g.98244288G>C g.95482006G>C - - PTCH1_000510 - Reinders et al accepted in Molecular Genetics & Genomic Medicine - - Unknown - - - - - Michel van Geel
+/. 1 5 c.689C>T r.(?) p.(Thr230Ile) - pathogenic g.98244288G>A g.95482006G>A - - PTCH1_000443 - - - - Germline - - - - - Andreas Laner
+/. 1 5 c.705dup r.(?) p.(Trp236Leufs*16) - pathogenic g.98244272dup g.95481990dup 693insC - PTCH1_000214 - PubMed: Lench 1997 - - Unknown - - - - - Michel van Geel
+/+ 1 5 c.707G>A r.(?) p.(Trp236*) - pathogenic g.98244270C>T g.95481988C>T - - PTCH1_000509 - vaReinders et al accepted in Molecular Genetics & Genomic Medicine - - Unknown - - - - - Michel van Geel
+/. 1 5 c.709G>A r.(?) p.(Glu237Lys) - pathogenic g.98244268C>T g.95481986C>T - - PTCH1_000420 - PubMed: Zhang 2011 - - Unknown - - - - - Michel van Geel
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