| NM_003738.5(PTCH2):c.1881T>C (p.Pro627=) |
single nucleotide variant |
Gorlin syndrome [RCV000525986] |
Chr1:44828020 [GRCh38]
Chr1:45293692 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2850C>A (p.Pro950=) |
single nucleotide variant |
Gorlin syndrome [RCV000528703] |
Chr1:44826614 [GRCh38]
Chr1:45292286 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3504C>A (p.Pro1168=) |
single nucleotide variant |
Gorlin syndrome [RCV000529297] |
Chr1:44822523 [GRCh38]
Chr1:45288195 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3348G>A (p.Pro1116=) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV003316668]|Gorlin syndrome [RCV000553019]|PTCH2-related disorder [RCV004553169] |
Chr1:44823078 [GRCh38]
Chr1:45288750 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1215+10G>A |
single nucleotide variant |
Gorlin syndrome [RCV000545039] |
Chr1:44829392 [GRCh38]
Chr1:45295064 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV000765169]|Gorlin syndrome [RCV000545138] |
Chr1:44823079 [GRCh38]
Chr1:45288751 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.19C>G (p.Leu7Val) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV000765172]|Gorlin syndrome [RCV000527482] |
Chr1:44842914 [GRCh38]
Chr1:45308586 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.936-4C>T |
single nucleotide variant |
Gorlin syndrome [RCV001423343] |
Chr1:44829765 [GRCh38]
Chr1:45295437 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1172C>T (p.Ser391Phe) |
single nucleotide variant |
Gorlin syndrome [RCV000532287] |
Chr1:44829445 [GRCh38]
Chr1:45295117 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) |
microsatellite |
Gorlin syndrome [RCV000490457]|Medulloblastoma [RCV000006520] |
Chr1:44829444..44829445 [GRCh38]
Chr1:45295116..45295117 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|other |
| NM_003738.5(PTCH2):c.3357+5C>T |
single nucleotide variant |
Basal cell carcinoma, somatic [RCV000006521] |
Chr1:44823064 [GRCh38]
Chr1:45288736 [GRCh37]
Chr1:1p34.1 |
pathogenic|other |
| NM_003738.5(PTCH2):c.2156G>A (p.Arg719Gln) |
single nucleotide variant |
Gorlin syndrome [RCV000006522] |
Chr1:44827617 [GRCh38]
Chr1:45293289 [GRCh37]
Chr1:1p34.1 |
pathogenic|uncertain significance |
| NM_003738.5(PTCH2):c.3504C>G (p.Pro1168=) |
single nucleotide variant |
Gorlin syndrome [RCV001494708] |
Chr1:44822523 [GRCh38]
Chr1:45288195 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.865A>G (p.Lys289Glu) |
single nucleotide variant |
Gorlin syndrome [RCV000628379] |
Chr1:44829979 [GRCh38]
Chr1:45295651 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2336G>A (p.Arg779His) |
single nucleotide variant |
Gorlin syndrome [RCV000628386] |
Chr1:44827437 [GRCh38]
Chr1:45293109 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2975T>C (p.Ile992Thr) |
single nucleotide variant |
Gorlin syndrome [RCV000628396] |
Chr1:44826489 [GRCh38]
Chr1:45292161 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2693G>A (p.Arg898His) |
single nucleotide variant |
Gorlin syndrome [RCV000628433]|PTCH2-related disorder [RCV004547767] |
Chr1:44826904 [GRCh38]
Chr1:45292576 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1188C>A (p.Ala396=) |
single nucleotide variant |
Gorlin syndrome [RCV000628434] |
Chr1:44829429 [GRCh38]
Chr1:45295101 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2184C>T (p.Ser728=) |
single nucleotide variant |
Gorlin syndrome [RCV000628440]|not provided [RCV003411485] |
Chr1:44827589 [GRCh38]
Chr1:45293261 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.783A>G (p.Pro261=) |
single nucleotide variant |
Gorlin syndrome [RCV000628453] |
Chr1:44830878 [GRCh38]
Chr1:45296550 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2670C>T (p.Tyr890=) |
single nucleotide variant |
Gorlin syndrome [RCV000552710] |
Chr1:44826927 [GRCh38]
Chr1:45292599 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1493C>T (p.Thr498Met) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV003316666]|Gorlin syndrome [RCV000548527] |
Chr1:44828603 [GRCh38]
Chr1:45294275 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3189C>T (p.Thr1063=) |
single nucleotide variant |
Gorlin syndrome [RCV000554080]|not provided [RCV003409756] |
Chr1:44823311 [GRCh38]
Chr1:45288983 [GRCh37]
Chr1:1p34.1 |
likely benign |
| GRCh38/hg38 1p34.1(chr1:44713837-45282899)x3 |
copy number gain |
See cases [RCV000051129] |
Chr1:44713837..45282899 [GRCh38]
Chr1:45179509..45748571 [GRCh37]
Chr1:44952096..45521158 [NCBI36]
Chr1:1p34.1 |
uncertain significance |
| GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] |
Chr1:39479787..47688131 [GRCh38]
Chr1:39945459..48153803 [GRCh37]
Chr1:39718046..47926390 [NCBI36]
Chr1:1p34.3-33 |
pathogenic |
| GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3 |
copy number gain |
See cases [RCV000051803] |
Chr1:38222737..45636176 [GRCh38]
Chr1:38688409..46101848 [GRCh37]
Chr1:38460996..45874435 [NCBI36]
Chr1:1p34.3-34.1 |
pathogenic |
| GRCh38/hg38 1p34.1(chr1:44838131-44841480)x1 |
copy number loss |
See cases [RCV000053838] |
Chr1:44838131..44841480 [GRCh38]
Chr1:45303803..45307152 [GRCh37]
Chr1:45076390..45079739 [NCBI36]
Chr1:1p34.1 |
pathogenic |
| NM_001166292.1(PTCH2):c.2558C>T (p.Pro853Leu) |
single nucleotide variant |
Malignant melanoma [RCV000060201] |
Chr1:44827039 [GRCh38]
Chr1:45292711 [GRCh37]
Chr1:45065298 [NCBI36]
Chr1:1p34.1 |
not provided |
| NM_003738.5(PTCH2):c.3553C>T (p.Pro1185Ser) |
single nucleotide variant |
Gorlin syndrome [RCV001303657] |
Chr1:44822474 [GRCh38]
Chr1:45288146 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2662G>A (p.Asp888Asn) |
single nucleotide variant |
Gorlin syndrome [RCV001857871]|not provided [RCV000514157] |
Chr1:44826935 [GRCh38]
Chr1:45292607 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.175C>A (p.Leu59Ile) |
single nucleotide variant |
Gorlin syndrome [RCV001292670] |
Chr1:44841937 [GRCh38]
Chr1:45307609 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1840G>T (p.Val614Phe) |
single nucleotide variant |
Gorlin syndrome [RCV001303643] |
Chr1:44828061 [GRCh38]
Chr1:45293733 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| GRCh38/hg38 1p34.1(chr1:44817130-45230407)x3 |
copy number gain |
See cases [RCV000142835] |
Chr1:44817130..45230407 [GRCh38]
Chr1:45282802..45696079 [GRCh37]
Chr1:45055389..45468666 [NCBI36]
Chr1:1p34.1 |
uncertain significance |
| GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3 |
copy number gain |
See cases [RCV000142581] |
Chr1:43896056..44867736 [GRCh38]
Chr1:44361728..45333408 [GRCh37]
Chr1:44134315..45105995 [NCBI36]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2018G>T (p.Arg673Leu) |
single nucleotide variant |
Gorlin syndrome [RCV001854936]|Oromandibular-limb hypogenesis spectrum [RCV000239932] |
Chr1:44827883 [GRCh38]
Chr1:45293555 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_003738.5(PTCH2):c.1156A>T (p.Ile386Phe) |
single nucleotide variant |
Oromandibular-limb hypogenesis spectrum [RCV000240145] |
Chr1:44829461 [GRCh38]
Chr1:45295133 [GRCh37]
Chr1:1p34.1 |
likely benign |
| GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 |
copy number loss |
not provided [RCV000762767] |
Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12 |
likely benign |
| NM_003738.5(PTCH2):c.372G>A (p.Glu124=) |
single nucleotide variant |
Gorlin syndrome [RCV001493854] |
Chr1:44832235 [GRCh38]
Chr1:45297907 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3139C>T (p.Arg1047Trp) |
single nucleotide variant |
Gorlin syndrome [RCV000229978] |
Chr1:44823361 [GRCh38]
Chr1:45289033 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1425G>A (p.Ala475=) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV003316261]|Gorlin syndrome [RCV000228509]|PTCH2-related disorder [RCV004547603]|not provided [RCV003221877] |
Chr1:44829021 [GRCh38]
Chr1:45294693 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.2427G>C (p.Ser809=) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV003316264]|Gorlin syndrome [RCV000228984]|PTCH2-related disorder [RCV004547605]|not provided [RCV001770198]|not specified [RCV001795363] |
Chr1:44827254 [GRCh38]
Chr1:45292926 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.2565C>T (p.Leu855=) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV002494644]|Gorlin syndrome [RCV000232161]|PTCH2-related disorder [RCV004547606]|not provided [RCV001682939] |
Chr1:44827032 [GRCh38]
Chr1:45292704 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.1073G>A (p.Arg358His) |
single nucleotide variant |
Gorlin syndrome [RCV000230686]|not provided [RCV001753698]|not specified [RCV001356895] |
Chr1:44829624 [GRCh38]
Chr1:45295296 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.44C>T (p.Thr15Ile) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV003316265]|Gorlin syndrome [RCV000232768] |
Chr1:44842889 [GRCh38]
Chr1:45308561 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.840T>C (p.Ser280=) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV003316266]|Gorlin syndrome [RCV000226387]|not provided [RCV001529575]|not specified [RCV001795364] |
Chr1:44830004 [GRCh38]
Chr1:45295676 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.1864C>T (p.His622Tyr) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV003316262]|Gorlin syndrome [RCV000232284]|PTCH2-related disorder [RCV004547604]|not provided [RCV001356208]|not specified [RCV001795362] |
Chr1:44828037 [GRCh38]
Chr1:45293709 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.1080G>T (p.Val360=) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV003316260]|Gorlin syndrome [RCV000234749]|PTCH2-related disorder [RCV004547602]|not provided [RCV001727647]|not specified [RCV001579667] |
Chr1:44829617 [GRCh38]
Chr1:45295289 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.3071C>T (p.Ala1024Val) |
single nucleotide variant |
Gorlin syndrome [RCV000225933]|not specified [RCV004020800] |
Chr1:44826293 [GRCh38]
Chr1:45291965 [GRCh37]
Chr1:1p34.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003738.5(PTCH2):c.2355C>T (p.Tyr785=) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV003316263]|Gorlin syndrome [RCV000226059] |
Chr1:44827418 [GRCh38]
Chr1:45293090 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.90G>A (p.Leu30=) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV003316267]|Gorlin syndrome [RCV000229166]|not provided [RCV001770199] |
Chr1:44842022 [GRCh38]
Chr1:45307694 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.1864C>A (p.His622Asn) |
single nucleotide variant |
Gorlin syndrome [RCV000463987]|PTCH2-related disorder [RCV004547621]|not provided [RCV001358410]|not specified [RCV000238650] |
Chr1:44828037 [GRCh38]
Chr1:45293709 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.446T>A (p.Leu149His) |
single nucleotide variant |
Gorlin syndrome [RCV000546322] |
Chr1:44832161 [GRCh38]
Chr1:45297833 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1031G>T (p.Ser344Ile) |
single nucleotide variant |
PTCH2-related disorder [RCV004548591]|not specified [RCV003320959] |
Chr1:44829666 [GRCh38]
Chr1:45295338 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1993C>T (p.Arg665Cys) |
single nucleotide variant |
Gorlin syndrome [RCV000551198]|PTCH2-related disorder [RCV004553168]|not provided [RCV001354139] |
Chr1:44827908 [GRCh38]
Chr1:45293580 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_003738.5(PTCH2):c.3269C>T (p.Ala1090Val) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV003470692]|Gorlin syndrome [RCV000530093] |
Chr1:44823157 [GRCh38]
Chr1:45288829 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1593G>A (p.Ala531=) |
single nucleotide variant |
Gorlin syndrome [RCV000549996]|PTCH2-related disorder [RCV004553166]|not provided [RCV001579391] |
Chr1:44828412 [GRCh38]
Chr1:45294084 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.1519A>G (p.Ile507Val) |
single nucleotide variant |
Gorlin syndrome [RCV000628390] |
Chr1:44828577 [GRCh38]
Chr1:45294249 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2584G>A (p.Val862Met) |
single nucleotide variant |
Gorlin syndrome [RCV000628419] |
Chr1:44827013 [GRCh38]
Chr1:45292685 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2605dup (p.Leu869fs) |
duplication |
Gorlin syndrome [RCV000628421] |
Chr1:44826991..44826992 [GRCh38]
Chr1:45292663..45292664 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1240C>G (p.Leu414Val) |
single nucleotide variant |
Gorlin syndrome [RCV000628373] |
Chr1:44829288 [GRCh38]
Chr1:45294960 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2261G>A (p.Arg754His) |
single nucleotide variant |
Gorlin syndrome [RCV000628384]|PTCH2-related disorder [RCV004547766] |
Chr1:44827512 [GRCh38]
Chr1:45293184 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.626C>G (p.Pro209Arg) |
single nucleotide variant |
Gorlin syndrome [RCV000628406] |
Chr1:44831035 [GRCh38]
Chr1:45296707 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1284C>T (p.Ala428=) |
single nucleotide variant |
Gorlin syndrome [RCV000628439]|PTCH2-related disorder [RCV004547769] |
Chr1:44829244 [GRCh38]
Chr1:45294916 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2952C>T (p.Leu984=) |
single nucleotide variant |
Gorlin syndrome [RCV000628456] |
Chr1:44826512 [GRCh38]
Chr1:45292184 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1569G>A (p.Ala523=) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV003316667]|Gorlin syndrome [RCV000556659] |
Chr1:44828527 [GRCh38]
Chr1:45294199 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.229A>G (p.Ile77Val) |
single nucleotide variant |
Gorlin syndrome [RCV000539932]|not specified [RCV004023664] |
Chr1:44841883 [GRCh38]
Chr1:45307555 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1395A>G (p.Gly465=) |
single nucleotide variant |
Gorlin syndrome [RCV000557442] |
Chr1:44829051 [GRCh38]
Chr1:45294723 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1591-10C>T |
single nucleotide variant |
Gorlin syndrome [RCV000537240] |
Chr1:44828424 [GRCh38]
Chr1:45294096 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1189del (p.Arg397fs) |
deletion |
Gorlin syndrome [RCV001855774]|not provided [RCV000732476] |
Chr1:44829428 [GRCh38]
Chr1:45295100 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)x1 |
copy number loss |
See cases [RCV000448358] |
Chr1:45303358..52157856 [GRCh37]
Chr1:1p34.1-32.3 |
likely pathogenic |
| NM_003738.5(PTCH2):c.7C>T (p.Arg3Ter) |
single nucleotide variant |
Gorlin syndrome [RCV000470273] |
Chr1:44842926 [GRCh38]
Chr1:45308598 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2695+8T>C |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV003316612]|Gorlin syndrome [RCV000473905] |
Chr1:44826894 [GRCh38]
Chr1:45292566 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.2782G>A (p.Glu928Lys) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV003316611]|Gorlin syndrome [RCV000459110]|PTCH2-related disorder [RCV004551556]|not specified [RCV004022972] |
Chr1:44826682 [GRCh38]
Chr1:45292354 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_003738.5(PTCH2):c.738C>T (p.Ala246=) |
single nucleotide variant |
Gorlin syndrome [RCV000463232] |
Chr1:44830923 [GRCh38]
Chr1:45296595 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2127C>T (p.Asp709=) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV003316613]|Gorlin syndrome [RCV000460017]|not provided [RCV001770364]|not specified [RCV001796067] |
Chr1:44827646 [GRCh38]
Chr1:45293318 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.1267G>A (p.Gly423Ser) |
single nucleotide variant |
Gorlin syndrome [RCV000463796] |
Chr1:44829261 [GRCh38]
Chr1:45294933 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.622C>T (p.Arg208Cys) |
single nucleotide variant |
Gorlin syndrome [RCV000467778]|PTCH2-related disorder [RCV004551558] |
Chr1:44831039 [GRCh38]
Chr1:45296711 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.687C>T (p.Ala229=) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV003316616]|Gorlin syndrome [RCV000456678]|not provided [RCV001755716] |
Chr1:44830974 [GRCh38]
Chr1:45296646 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.1371+8A>G |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV003316615]|Gorlin syndrome [RCV000471703] |
Chr1:44829149 [GRCh38]
Chr1:45294821 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.3216T>C (p.Gly1072=) |
single nucleotide variant |
Gorlin syndrome [RCV000464505]|PTCH2-related disorder [RCV004551560] |
Chr1:44823284 [GRCh38]
Chr1:45288956 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV002475914]|Gorlin syndrome [RCV000468241]|not provided [RCV001755715] |
Chr1:44822664 [GRCh38]
Chr1:45288336 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.2059-5C>T |
single nucleotide variant |
Gorlin syndrome [RCV000475810] |
Chr1:44827719 [GRCh38]
Chr1:45293391 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2963C>T (p.Thr988Met) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV003316610]|Gorlin syndrome [RCV000464659]|not provided [RCV001613307] |
Chr1:44826501 [GRCh38]
Chr1:45292173 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.3114+9G>A |
single nucleotide variant |
Gorlin syndrome [RCV001452389] |
Chr1:44826241 [GRCh38]
Chr1:45291913 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2304G>A (p.Ala768=) |
single nucleotide variant |
Gorlin syndrome [RCV000457717] |
Chr1:44827469 [GRCh38]
Chr1:45293141 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.190T>C (p.Leu64=) |
single nucleotide variant |
Gorlin syndrome [RCV000469517]|PTCH2-related disorder [RCV004551557] |
Chr1:44841922 [GRCh38]
Chr1:45307594 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.1596C>T (p.Ala532=) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV003316614]|Gorlin syndrome [RCV000462228]|PTCH2-related disorder [RCV004551559]|not provided [RCV003409646] |
Chr1:44828409 [GRCh38]
Chr1:45294081 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.1507G>A (p.Val503Ile) |
single nucleotide variant |
Gorlin syndrome [RCV000477258] |
Chr1:44828589 [GRCh38]
Chr1:45294261 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_003738.5(PTCH2):c.735G>C (p.Gln245His) |
single nucleotide variant |
Gorlin syndrome [RCV000470043] |
Chr1:44830926 [GRCh38]
Chr1:45296598 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1533C>T (p.Ala511=) |
single nucleotide variant |
Gorlin syndrome [RCV000473640] |
Chr1:44828563 [GRCh38]
Chr1:45294235 [GRCh37]
Chr1:1p34.1 |
benign |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_003738.5(PTCH2):c.3055G>A (p.Val1019Met) |
single nucleotide variant |
Gorlin syndrome [RCV001063237]|not provided [RCV000497770] |
Chr1:44826309 [GRCh38]
Chr1:45291981 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_003738.5(PTCH2):c.49C>G (p.Pro17Ala) |
single nucleotide variant |
not specified [RCV004284009] |
Chr1:44842884 [GRCh38]
Chr1:45308556 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.627G>A (p.Pro209=) |
single nucleotide variant |
Gorlin syndrome [RCV000535078] |
Chr1:44831034 [GRCh38]
Chr1:45296706 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2092G>A (p.Gly698Ser) |
single nucleotide variant |
Diffuse midline glioma, H3 K27-altered [RCV003313767] |
Chr1:44827681 [GRCh38]
Chr1:45293353 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1489C>T (p.Arg497Cys) |
single nucleotide variant |
Gorlin syndrome [RCV000536036] |
Chr1:44828607 [GRCh38]
Chr1:45294279 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3154G>A (p.Ala1052Thr) |
single nucleotide variant |
Gorlin syndrome [RCV000541329]|not specified [RCV004023665] |
Chr1:44823346 [GRCh38]
Chr1:45289018 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.703C>T (p.Arg235Trp) |
single nucleotide variant |
Gorlin syndrome [RCV000628344]|not specified [RCV004025316] |
Chr1:44830958 [GRCh38]
Chr1:45296630 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2472C>A (p.Leu824=) |
single nucleotide variant |
Gorlin syndrome [RCV000628488] |
Chr1:44827209 [GRCh38]
Chr1:45292881 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.97C>G (p.Pro33Ala) |
single nucleotide variant |
Gorlin syndrome [RCV000560242] |
Chr1:44842015 [GRCh38]
Chr1:45307687 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2486_2487delinsTT (p.Asp829Val) |
indel |
Gorlin syndrome [RCV000628336] |
Chr1:44827194..44827195 [GRCh38]
Chr1:45292866..45292867 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.565C>G (p.Leu189Val) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV000765170]|Gorlin syndrome [RCV000628394] |
Chr1:44831758 [GRCh38]
Chr1:45297430 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2064C>T (p.Ile688=) |
single nucleotide variant |
Gorlin syndrome [RCV000628483] |
Chr1:44827709 [GRCh38]
Chr1:45293381 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2196G>A (p.Arg732=) |
single nucleotide variant |
Gorlin syndrome [RCV002525260]|PTCH2-related disorder [RCV004553167] |
Chr1:44827577 [GRCh38]
Chr1:45293249 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.545C>T (p.Pro182Leu) |
single nucleotide variant |
Gorlin syndrome [RCV000559004] |
Chr1:44831778 [GRCh38]
Chr1:45297450 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.850C>A (p.His284Asn) |
single nucleotide variant |
Gorlin syndrome [RCV000628330] |
Chr1:44829994 [GRCh38]
Chr1:45295666 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1598T>C (p.Ile533Thr) |
single nucleotide variant |
Gorlin syndrome [RCV000628331]|not specified [RCV004025315] |
Chr1:44828407 [GRCh38]
Chr1:45294079 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_003738.5(PTCH2):c.3473C>G (p.Thr1158Ser) |
single nucleotide variant |
Gorlin syndrome [RCV000628360] |
Chr1:44822554 [GRCh38]
Chr1:45288226 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3257+3del |
deletion |
Gorlin syndrome [RCV000628365] |
Chr1:44823240 [GRCh38]
Chr1:45288912 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1663C>T (p.Arg555Trp) |
single nucleotide variant |
Gorlin syndrome [RCV000628416] |
Chr1:44828342 [GRCh38]
Chr1:45294014 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2700G>T (p.Pro900=) |
single nucleotide variant |
Gorlin syndrome [RCV000628452] |
Chr1:44826764 [GRCh38]
Chr1:45292436 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3184G>A (p.Val1062Met) |
single nucleotide variant |
Gorlin syndrome [RCV000628454]|PTCH2-related disorder [RCV004547771] |
Chr1:44823316 [GRCh38]
Chr1:45288988 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2142G>A (p.Thr714=) |
single nucleotide variant |
Gorlin syndrome [RCV000628462]|PTCH2-related disorder [RCV004547772] |
Chr1:44827631 [GRCh38]
Chr1:45293303 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.2661C>T (p.His887=) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV002507055]|Gorlin syndrome [RCV000628470]|not provided [RCV003411486] |
Chr1:44826936 [GRCh38]
Chr1:45292608 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.311T>C (p.Leu104Pro) |
single nucleotide variant |
Gorlin syndrome [RCV000628473] |
Chr1:44832296 [GRCh38]
Chr1:45297968 [GRCh37]
Chr1:1p34.1 |
likely benign|conflicting interpretations of pathogenicity |
| NC_000001.10:g.(?_33241563)_(46663513_?)dup |
duplication |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] |
Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2743C>T (p.Arg915Cys) |
single nucleotide variant |
Gorlin syndrome [RCV000701395] |
Chr1:44826721 [GRCh38]
Chr1:45292393 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3566G>C (p.Ser1189Thr) |
single nucleotide variant |
Gorlin syndrome [RCV000704157]|See cases [RCV002252220] |
Chr1:44822461 [GRCh38]
Chr1:45288133 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2029G>C (p.Ala677Pro) |
single nucleotide variant |
Gorlin syndrome [RCV000704386]|not specified [RCV004026660] |
Chr1:44827872 [GRCh38]
Chr1:45293544 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3500C>T (p.Pro1167Leu) |
single nucleotide variant |
Gorlin syndrome [RCV000694929] |
Chr1:44822527 [GRCh38]
Chr1:45288199 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3548G>A (p.Trp1183Ter) |
single nucleotide variant |
Gorlin syndrome [RCV000690787] |
Chr1:44822479 [GRCh38]
Chr1:45288151 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.704G>A (p.Arg235Gln) |
single nucleotide variant |
Gorlin syndrome [RCV000705233] |
Chr1:44830957 [GRCh38]
Chr1:45296629 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1491C>T (p.Arg497=) |
single nucleotide variant |
Gorlin syndrome [RCV000694121] |
Chr1:44828605 [GRCh38]
Chr1:45294277 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1933C>T (p.Leu645Phe) |
single nucleotide variant |
Gorlin syndrome [RCV000688918] |
Chr1:44827968 [GRCh38]
Chr1:45293640 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.126C>T (p.Gly42=) |
single nucleotide variant |
Gorlin syndrome [RCV000701725] |
Chr1:44841986 [GRCh38]
Chr1:45307658 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1090C>G (p.Gln364Glu) |
single nucleotide variant |
Gorlin syndrome [RCV000697535]|not specified [RCV004026407] |
Chr1:44829527 [GRCh38]
Chr1:45295199 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.858C>A (p.Phe286Leu) |
single nucleotide variant |
Gorlin syndrome [RCV000702529] |
Chr1:44829986 [GRCh38]
Chr1:45295658 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1555G>A (p.Val519Ile) |
single nucleotide variant |
Gorlin syndrome [RCV000688296] |
Chr1:44828541 [GRCh38]
Chr1:45294213 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.70C>G (p.Gln24Glu) |
single nucleotide variant |
Gorlin syndrome [RCV000688337]|not specified [RCV003403591] |
Chr1:44842863 [GRCh38]
Chr1:45308535 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1783C>T (p.His595Tyr) |
single nucleotide variant |
Gorlin syndrome [RCV000688339]|not specified [RCV003403592] |
Chr1:44828118 [GRCh38]
Chr1:45293790 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.453G>T (p.Gly151=) |
single nucleotide variant |
Gorlin syndrome [RCV000693619]|PTCH2-related disorder [RCV001824867] |
Chr1:44832154 [GRCh38]
Chr1:45297826 [GRCh37]
Chr1:1p34.1 |
uncertain significance|not provided |
| NM_003738.5(PTCH2):c.109C>T (p.Arg37Cys) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV000765171]|Gorlin syndrome [RCV000691985]|not specified [RCV004025108] |
Chr1:44842003 [GRCh38]
Chr1:45307675 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_003738.5(PTCH2):c.814-210_814-209insTA |
insertion |
not provided [RCV001530824] |
Chr1:44830239..44830240 [GRCh38]
Chr1:45295911..45295912 [GRCh37]
Chr1:1p34.1 |
benign |
| GRCh37/hg19 1p34.1(chr1:45237119-45287094)x1 |
copy number loss |
not provided [RCV000748971] |
Chr1:45237119..45287094 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.3114+246G>T |
single nucleotide variant |
not provided [RCV001611595] |
Chr1:44826004 [GRCh38]
Chr1:45291676 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.1506C>G (p.Val502=) |
single nucleotide variant |
Gorlin syndrome [RCV000861921]|PTCH2-related disorder [RCV004549921]|not provided [RCV003411835] |
Chr1:44828590 [GRCh38]
Chr1:45294262 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.1016A>G (p.His339Arg) |
single nucleotide variant |
Gorlin syndrome [RCV000869864]|not specified [RCV004027763] |
Chr1:44829681 [GRCh38]
Chr1:45295353 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_003738.5(PTCH2):c.1591-9G>A |
single nucleotide variant |
Gorlin syndrome [RCV000861306] |
Chr1:44828423 [GRCh38]
Chr1:45294095 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1273G>A (p.Val425Met) |
single nucleotide variant |
Gorlin syndrome [RCV001046570]|not specified [RCV004031446] |
Chr1:44829255 [GRCh38]
Chr1:45294927 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1371+4C>T |
single nucleotide variant |
Gorlin syndrome [RCV001046312] |
Chr1:44829153 [GRCh38]
Chr1:45294825 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2315dup (p.Pro773fs) |
duplication |
Familial cancer of breast [RCV003315494] |
Chr1:44827457..44827458 [GRCh38]
Chr1:45293129..45293130 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_003738.5(PTCH2):c.1399G>A (p.Gly467Ser) |
single nucleotide variant |
Gorlin syndrome [RCV001045620] |
Chr1:44829047 [GRCh38]
Chr1:45294719 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1296_1300del (p.Val433fs) |
deletion |
Basal cell carcinoma, susceptibility to, 1 [RCV003992430]|Gorlin syndrome [RCV000986296] |
Chr1:44829228..44829232 [GRCh38]
Chr1:45294900..45294904 [GRCh37]
Chr1:1p34.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003738.5(PTCH2):c.3114+7A>T |
single nucleotide variant |
Gorlin syndrome [RCV002064577] |
Chr1:44826243 [GRCh38]
Chr1:45291915 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1458T>C (p.Pro486=) |
single nucleotide variant |
Gorlin syndrome [RCV000866699] |
Chr1:44828988 [GRCh38]
Chr1:45294660 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1083+3C>T |
single nucleotide variant |
Gorlin syndrome [RCV000866559]|not provided [RCV004584811] |
Chr1:44829611 [GRCh38]
Chr1:45295283 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.1477G>A (p.Glu493Lys) |
single nucleotide variant |
Gorlin syndrome [RCV000863434]|PTCH2-related disorder [RCV004549932] |
Chr1:44828619 [GRCh38]
Chr1:45294291 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2035T>C (p.Leu679=) |
single nucleotide variant |
Gorlin syndrome [RCV000864765] |
Chr1:44827866 [GRCh38]
Chr1:45293538 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1758C>T (p.Asp586=) |
single nucleotide variant |
Gorlin syndrome [RCV001403186]|PTCH2-related disorder [RCV004549948] |
Chr1:44828143 [GRCh38]
Chr1:45293815 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3483C>G (p.Thr1161=) |
single nucleotide variant |
Gorlin syndrome [RCV002539076] |
Chr1:44822544 [GRCh38]
Chr1:45288216 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1307C>T (p.Ala436Val) |
single nucleotide variant |
Gorlin syndrome [RCV000867158] |
Chr1:44829221 [GRCh38]
Chr1:45294893 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.564C>G (p.Pro188=) |
single nucleotide variant |
Gorlin syndrome [RCV000905298] |
Chr1:44831759 [GRCh38]
Chr1:45297431 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.603C>G (p.Gly201=) |
single nucleotide variant |
Gorlin syndrome [RCV000864207] |
Chr1:44831720 [GRCh38]
Chr1:45297392 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.945C>T (p.Ala315=) |
single nucleotide variant |
Gorlin syndrome [RCV000863431] |
Chr1:44829752 [GRCh38]
Chr1:45295424 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV002495280]|Gorlin syndrome [RCV000986295]|PTCH2-related disorder [RCV004549954] |
Chr1:44828121 [GRCh38]
Chr1:45293793 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3589G>A (p.Gly1197Arg) |
single nucleotide variant |
Gorlin syndrome [RCV000867342]|PTCH2-related disorder [RCV004549949] |
Chr1:44822438 [GRCh38]
Chr1:45288110 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.1760G>A (p.Gly587Glu) |
single nucleotide variant |
Gorlin syndrome [RCV000863863]|PTCH2-related disorder [RCV004549934]|not provided [RCV003411839] |
Chr1:44828141 [GRCh38]
Chr1:45293813 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.2877C>G (p.Gly959=) |
single nucleotide variant |
Gorlin syndrome [RCV001446556] |
Chr1:44826587 [GRCh38]
Chr1:45292259 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1427A>G (p.His476Arg) |
single nucleotide variant |
Gorlin syndrome [RCV001047512] |
Chr1:44829019 [GRCh38]
Chr1:45294691 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1083+5G>A |
single nucleotide variant |
Gorlin syndrome [RCV001061461] |
Chr1:44829609 [GRCh38]
Chr1:45295281 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3170A>G (p.His1057Arg) |
single nucleotide variant |
Gorlin syndrome [RCV001062162]|not provided [RCV003405276] |
Chr1:44823330 [GRCh38]
Chr1:45289002 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3392T>C (p.Leu1131Pro) |
single nucleotide variant |
Gorlin syndrome [RCV001041327] |
Chr1:44822635 [GRCh38]
Chr1:45288307 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1039C>T (p.Gln347Ter) |
single nucleotide variant |
Gorlin syndrome [RCV001061513] |
Chr1:44829658 [GRCh38]
Chr1:45295330 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.386C>T (p.Pro129Leu) |
single nucleotide variant |
Gorlin syndrome [RCV001055988] |
Chr1:44832221 [GRCh38]
Chr1:45297893 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3107T>G (p.Val1036Gly) |
single nucleotide variant |
Gorlin syndrome [RCV001061821] |
Chr1:44826257 [GRCh38]
Chr1:45291929 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1244G>A (p.Arg415Gln) |
single nucleotide variant |
Gorlin syndrome [RCV001035320] |
Chr1:44829284 [GRCh38]
Chr1:45294956 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.618-6C>A |
single nucleotide variant |
Gorlin syndrome [RCV001069852]|not specified [RCV002249669] |
Chr1:44831049 [GRCh38]
Chr1:45296721 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2459C>T (p.Ala820Val) |
single nucleotide variant |
Gorlin syndrome [RCV001069995]|not specified [RCV004030737] |
Chr1:44827222 [GRCh38]
Chr1:45292894 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2335C>G (p.Arg779Gly) |
single nucleotide variant |
Gorlin syndrome [RCV001037991] |
Chr1:44827438 [GRCh38]
Chr1:45293110 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1111G>C (p.Ala371Pro) |
single nucleotide variant |
Gorlin syndrome [RCV001037610] |
Chr1:44829506 [GRCh38]
Chr1:45295178 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2372G>A (p.Gly791Glu) |
single nucleotide variant |
Gorlin syndrome [RCV001050740] |
Chr1:44827309 [GRCh38]
Chr1:45292981 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.403C>A (p.His135Asn) |
single nucleotide variant |
Gorlin syndrome [RCV000807461] |
Chr1:44832204 [GRCh38]
Chr1:45297876 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.31C>T (p.Pro11Ser) |
single nucleotide variant |
Gorlin syndrome [RCV000791937] |
Chr1:44842902 [GRCh38]
Chr1:45308574 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2823G>C (p.Gly941=) |
single nucleotide variant |
Gorlin syndrome [RCV000868639] |
Chr1:44826641 [GRCh38]
Chr1:45292313 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.48C>T (p.Pro16=) |
single nucleotide variant |
Gorlin syndrome [RCV001419865] |
Chr1:44842885 [GRCh38]
Chr1:45308557 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1994G>A (p.Arg665His) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV002487887]|Gorlin syndrome [RCV000862186]|PTCH2-related disorder [RCV004549924] |
Chr1:44827907 [GRCh38]
Chr1:45293579 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1590+10C>T |
single nucleotide variant |
not provided [RCV000976026] |
Chr1:44828496 [GRCh38]
Chr1:45294168 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2679G>A (p.Thr893=) |
single nucleotide variant |
Gorlin syndrome [RCV000862391]|not provided [RCV003411836] |
Chr1:44826918 [GRCh38]
Chr1:45292590 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1611C>T (p.Cys537=) |
single nucleotide variant |
Gorlin syndrome [RCV000862621] |
Chr1:44828394 [GRCh38]
Chr1:45294066 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.2059-4G>A |
single nucleotide variant |
Gorlin syndrome [RCV000862710] |
Chr1:44827718 [GRCh38]
Chr1:45293390 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2902G>A (p.Val968Ile) |
single nucleotide variant |
Gorlin syndrome [RCV000862785] |
Chr1:44826562 [GRCh38]
Chr1:45292234 [GRCh37]
Chr1:1p34.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_003738.5(PTCH2):c.2248G>A (p.Ala750Thr) |
single nucleotide variant |
Gorlin syndrome [RCV000863684] |
Chr1:44827525 [GRCh38]
Chr1:45293197 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.2559C>T (p.Pro853=) |
single nucleotide variant |
Gorlin syndrome [RCV000868157]|not provided [RCV002264031] |
Chr1:44827038 [GRCh38]
Chr1:45292710 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.3357+8C>T |
single nucleotide variant |
Gorlin syndrome [RCV000884672] |
Chr1:44823061 [GRCh38]
Chr1:45288733 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.546G>A (p.Pro182=) |
single nucleotide variant |
Gorlin syndrome [RCV000873704] |
Chr1:44831777 [GRCh38]
Chr1:45297449 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2432G>T (p.Arg811Leu) |
single nucleotide variant |
Gorlin syndrome [RCV000799215]|not specified [RCV004027987] |
Chr1:44827249 [GRCh38]
Chr1:45292921 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2882G>A (p.Arg961Gln) |
single nucleotide variant |
Gorlin syndrome [RCV000822892] |
Chr1:44826582 [GRCh38]
Chr1:45292254 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.347T>C (p.Ile116Thr) |
single nucleotide variant |
Gorlin syndrome [RCV000799556]|not specified [RCV004028000] |
Chr1:44832260 [GRCh38]
Chr1:45297932 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 |
copy number gain |
Global developmental delay [RCV000787285] |
Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.19C>T (p.Leu7Phe) |
single nucleotide variant |
Gorlin syndrome [RCV000798598] |
Chr1:44842914 [GRCh38]
Chr1:45308586 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2361C>G (p.Asn787Lys) |
single nucleotide variant |
Gorlin syndrome [RCV000819703] |
Chr1:44827412 [GRCh38]
Chr1:45293084 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1296_1305delinsCACCA (p.Val433fs) |
indel |
Gorlin syndrome [RCV000806742] |
Chr1:44829223..44829232 [GRCh38]
Chr1:45294895..45294904 [GRCh37]
Chr1:1p34.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003738.5(PTCH2):c.567C>T (p.Leu189=) |
single nucleotide variant |
Gorlin syndrome [RCV000869703]|PTCH2-related disorder [RCV004549959] |
Chr1:44831756 [GRCh38]
Chr1:45297428 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.52G>C (p.Ala18Pro) |
single nucleotide variant |
Gorlin syndrome [RCV000814456] |
Chr1:44842881 [GRCh38]
Chr1:45308553 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1326del (p.Leu443fs) |
deletion |
Gorlin syndrome [RCV000795203]|not provided [RCV001091840] |
Chr1:44829202 [GRCh38]
Chr1:45294874 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3190G>A (p.Asp1064Asn) |
single nucleotide variant |
Gorlin syndrome [RCV000814975] |
Chr1:44823310 [GRCh38]
Chr1:45288982 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3590G>A (p.Gly1197Glu) |
single nucleotide variant |
Gorlin syndrome [RCV000818346]|not specified [RCV004028955] |
Chr1:44822437 [GRCh38]
Chr1:45288109 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3518A>G (p.Tyr1173Cys) |
single nucleotide variant |
Gorlin syndrome [RCV000795028] |
Chr1:44822509 [GRCh38]
Chr1:45288181 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.533_548del (p.Glu178fs) |
deletion |
Gorlin syndrome [RCV000822056] |
Chr1:44831775..44831790 [GRCh38]
Chr1:45297447..45297462 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.247G>A (p.Glu83Lys) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV002487739]|Gorlin syndrome [RCV000808436] |
Chr1:44841865 [GRCh38]
Chr1:45307537 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.390dup (p.Ala131fs) |
duplication |
Gorlin syndrome [RCV000808304] |
Chr1:44832216..44832217 [GRCh38]
Chr1:45297888..45297889 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2178C>A (p.Phe726Leu) |
single nucleotide variant |
Gorlin syndrome [RCV000800483] |
Chr1:44827595 [GRCh38]
Chr1:45293267 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1592C>T (p.Ala531Val) |
single nucleotide variant |
Gorlin syndrome [RCV000812464]|not provided [RCV001200333] |
Chr1:44828413 [GRCh38]
Chr1:45294085 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2483G>C (p.Gly828Ala) |
single nucleotide variant |
Gorlin syndrome [RCV000793135] |
Chr1:44827198 [GRCh38]
Chr1:45292870 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.998G>A (p.Arg333Gln) |
single nucleotide variant |
Gorlin syndrome [RCV000803593]|not specified [RCV004028147] |
Chr1:44829699 [GRCh38]
Chr1:45295371 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1238T>C (p.Met413Thr) |
single nucleotide variant |
Gorlin syndrome [RCV000799809] |
Chr1:44829290 [GRCh38]
Chr1:45294962 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2678C>T (p.Thr893Met) |
single nucleotide variant |
Gorlin syndrome [RCV000813017]|not specified [RCV004028784] |
Chr1:44826919 [GRCh38]
Chr1:45292591 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3280G>C (p.Val1094Leu) |
single nucleotide variant |
Gorlin syndrome [RCV000820826] |
Chr1:44823146 [GRCh38]
Chr1:45288818 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1247G>A (p.Trp416Ter) |
single nucleotide variant |
Gorlin syndrome [RCV000807844]|PTCH2-related disorder [RCV004549883] |
Chr1:44829281 [GRCh38]
Chr1:45294953 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2692C>T (p.Arg898Cys) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV003467327]|Gorlin syndrome [RCV000791798] |
Chr1:44826905 [GRCh38]
Chr1:45292577 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1387G>C (p.Ala463Pro) |
single nucleotide variant |
Gorlin syndrome [RCV000798189] |
Chr1:44829059 [GRCh38]
Chr1:45294731 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2803G>A (p.Ala935Thr) |
single nucleotide variant |
Gorlin syndrome [RCV000810400]|not specified [RCV004028699] |
Chr1:44826661 [GRCh38]
Chr1:45292333 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.116A>T (p.Tyr39Phe) |
single nucleotide variant |
Gorlin syndrome [RCV000809443] |
Chr1:44841996 [GRCh38]
Chr1:45307668 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2065G>A (p.Val689Met) |
single nucleotide variant |
Gorlin syndrome [RCV000812373] |
Chr1:44827708 [GRCh38]
Chr1:45293380 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1070G>A (p.Arg357Gln) |
single nucleotide variant |
Gorlin syndrome [RCV000801951] |
Chr1:44829627 [GRCh38]
Chr1:45295299 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.354C>G (p.Thr118=) |
single nucleotide variant |
not provided [RCV000864573] |
Chr1:44832253 [GRCh38]
Chr1:45297925 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.302A>G (p.Lys101Arg) |
single nucleotide variant |
Gorlin syndrome [RCV000811092]|not specified [RCV004028718] |
Chr1:44832305 [GRCh38]
Chr1:45297977 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1720G>T (p.Ala574Ser) |
single nucleotide variant |
Gorlin syndrome [RCV000823193]|not provided [RCV003486935] |
Chr1:44828181 [GRCh38]
Chr1:45293853 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1614C>A (p.Thr538=) |
single nucleotide variant |
Gorlin syndrome [RCV000942489] |
Chr1:44828391 [GRCh38]
Chr1:45294063 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.563C>A (p.Pro188His) |
single nucleotide variant |
Gorlin syndrome [RCV000800824]|not specified [RCV004028038] |
Chr1:44831760 [GRCh38]
Chr1:45297432 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NC_000001.11:g.(?_44822405)_(45340264_?)dup |
duplication |
Familial adenomatous polyposis 2 [RCV001031167] |
Chr1:45288077..45805936 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.788G>A (p.Ser263Asn) |
single nucleotide variant |
Gorlin syndrome [RCV001213553] |
Chr1:44830873 [GRCh38]
Chr1:45296545 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.935G>A (p.Arg312Lys) |
single nucleotide variant |
Gorlin syndrome [RCV001046597] |
Chr1:44829909 [GRCh38]
Chr1:45295581 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3185T>G (p.Val1062Gly) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV001198260] |
Chr1:44823315 [GRCh38]
Chr1:45288987 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.233T>C (p.Ile78Thr) |
single nucleotide variant |
Gorlin syndrome [RCV001220138] |
Chr1:44841879 [GRCh38]
Chr1:45307551 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3210G>C (p.Leu1070Phe) |
single nucleotide variant |
Gorlin syndrome [RCV001217815]|not specified [RCV002465849] |
Chr1:44823290 [GRCh38]
Chr1:45288962 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3284T>C (p.Leu1095Pro) |
single nucleotide variant |
Gorlin syndrome [RCV001220974] |
Chr1:44823142 [GRCh38]
Chr1:45288814 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1768C>A (p.Pro590Thr) |
single nucleotide variant |
Gorlin syndrome [RCV001241433] |
Chr1:44828133 [GRCh38]
Chr1:45293805 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2519C>G (p.Thr840Ser) |
single nucleotide variant |
Gorlin syndrome [RCV001225171] |
Chr1:44827078 [GRCh38]
Chr1:45292750 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1759G>A (p.Gly587Arg) |
single nucleotide variant |
Gorlin syndrome [RCV001065089]|not specified [RCV004030570] |
Chr1:44828142 [GRCh38]
Chr1:45293814 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_003738.5(PTCH2):c.148G>A (p.Gly50Arg) |
single nucleotide variant |
Gorlin syndrome [RCV001211191] |
Chr1:44841964 [GRCh38]
Chr1:45307636 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1142C>T (p.Thr381Ile) |
single nucleotide variant |
Gorlin syndrome [RCV001241730] |
Chr1:44829475 [GRCh38]
Chr1:45295147 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.838A>G (p.Ser280Gly) |
single nucleotide variant |
Gorlin syndrome [RCV001225994] |
Chr1:44830006 [GRCh38]
Chr1:45295678 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.788G>C (p.Ser263Thr) |
single nucleotide variant |
Gorlin syndrome [RCV001238613] |
Chr1:44830873 [GRCh38]
Chr1:45296545 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1540C>T (p.Leu514Phe) |
single nucleotide variant |
Gorlin syndrome [RCV001201895] |
Chr1:44828556 [GRCh38]
Chr1:45294228 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1844C>A (p.Thr615Asn) |
single nucleotide variant |
Gorlin syndrome [RCV001211567]|not specified [RCV004033820] |
Chr1:44828057 [GRCh38]
Chr1:45293729 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2642dup (p.Pro882fs) |
duplication |
Gorlin syndrome [RCV001212988] |
Chr1:44826954..44826955 [GRCh38]
Chr1:45292626..45292627 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3103C>T (p.His1035Tyr) |
single nucleotide variant |
not specified [RCV004303182] |
Chr1:44826261 [GRCh38]
Chr1:45291933 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.665T>G (p.Leu222Arg) |
single nucleotide variant |
Gorlin syndrome [RCV001230080] |
Chr1:44830996 [GRCh38]
Chr1:45296668 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1036G>C (p.Glu346Gln) |
single nucleotide variant |
Gorlin syndrome [RCV001068943]|PTCH2-related disorder [RCV004547975] |
Chr1:44829661 [GRCh38]
Chr1:45295333 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1591-5C>G |
single nucleotide variant |
Gorlin syndrome [RCV003105225] |
Chr1:44828419 [GRCh38]
Chr1:45294091 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NC_000001.10:g.(?_45288087)_(45308604_?)dup |
duplication |
Gorlin syndrome [RCV003107735] |
Chr1:45288087..45308604 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NC_000001.10:g.(?_45290013)_(45292899_?)del |
deletion |
Gorlin syndrome [RCV003107736] |
Chr1:45290013..45292899 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.72+124C>T |
single nucleotide variant |
not provided [RCV001637803] |
Chr1:44842737 [GRCh38]
Chr1:45308409 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.3115-319A>G |
single nucleotide variant |
not provided [RCV001684751] |
Chr1:44823704 [GRCh38]
Chr1:45289376 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.2696-43G>A |
single nucleotide variant |
not provided [RCV001709131] |
Chr1:44826811 [GRCh38]
Chr1:45292483 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.456-37T>C |
single nucleotide variant |
not provided [RCV001652876] |
Chr1:44832081 [GRCh38]
Chr1:45297753 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.73-247_73-236del |
deletion |
not provided [RCV001614045] |
Chr1:44842275..44842286 [GRCh38]
Chr1:45307947..45307958 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.2013C>T (p.Phe671=) |
single nucleotide variant |
Gorlin syndrome [RCV000860793]|PTCH2-related disorder [RCV004549917]|not provided [RCV002264026] |
Chr1:44827888 [GRCh38]
Chr1:45293560 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.1506C>T (p.Val502=) |
single nucleotide variant |
Gorlin syndrome [RCV000862060]|not provided [RCV001759645] |
Chr1:44828590 [GRCh38]
Chr1:45294262 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.14C>T (p.Pro5Leu) |
single nucleotide variant |
Gorlin syndrome [RCV000875873] |
Chr1:44842919 [GRCh38]
Chr1:45308591 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1054C>T (p.Leu352=) |
single nucleotide variant |
Gorlin syndrome [RCV000862942] |
Chr1:44829643 [GRCh38]
Chr1:45295315 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.3471T>C (p.Thr1157=) |
single nucleotide variant |
not provided [RCV000870828] |
Chr1:44822556 [GRCh38]
Chr1:45288228 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1272C>T (p.Ser424=) |
single nucleotide variant |
Gorlin syndrome [RCV000863739] |
Chr1:44829256 [GRCh38]
Chr1:45294928 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2973C>T (p.Leu991=) |
single nucleotide variant |
Gorlin syndrome [RCV001406002] |
Chr1:44826491 [GRCh38]
Chr1:45292163 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1080G>A (p.Val360=) |
single nucleotide variant |
Gorlin syndrome [RCV001430442] |
Chr1:44829617 [GRCh38]
Chr1:45295289 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.606C>T (p.Ser202=) |
single nucleotide variant |
Gorlin syndrome [RCV000868158]|PTCH2-related disorder [RCV004549953] |
Chr1:44831717 [GRCh38]
Chr1:45297389 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.618C>A (p.Pro206=) |
single nucleotide variant |
Gorlin syndrome [RCV001070733] |
Chr1:44831043 [GRCh38]
Chr1:45296715 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_003738.5(PTCH2):c.2162C>T (p.Thr721Ile) |
single nucleotide variant |
Gorlin syndrome [RCV001244384] |
Chr1:44827611 [GRCh38]
Chr1:45293283 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1588C>T (p.Gln530Ter) |
single nucleotide variant |
Gorlin syndrome [RCV001244710] |
Chr1:44828508 [GRCh38]
Chr1:45294180 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1090C>T (p.Gln364Ter) |
single nucleotide variant |
Gorlin syndrome [RCV001222981] |
Chr1:44829527 [GRCh38]
Chr1:45295199 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.275G>A (p.Arg92Gln) |
single nucleotide variant |
Gorlin syndrome [RCV001247925]|not specified [RCV004034909] |
Chr1:44832332 [GRCh38]
Chr1:45298004 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1112C>G (p.Ala371Gly) |
single nucleotide variant |
Gorlin syndrome [RCV001223447] |
Chr1:44829505 [GRCh38]
Chr1:45295177 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2812G>A (p.Gly938Ser) |
single nucleotide variant |
Gorlin syndrome [RCV001245311] |
Chr1:44826652 [GRCh38]
Chr1:45292324 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2380G>A (p.Ala794Thr) |
single nucleotide variant |
Gorlin syndrome [RCV001243874] |
Chr1:44827301 [GRCh38]
Chr1:45292973 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1223A>G (p.Tyr408Cys) |
single nucleotide variant |
Gorlin syndrome [RCV001217340] |
Chr1:44829305 [GRCh38]
Chr1:45294977 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1880C>G (p.Pro627Arg) |
single nucleotide variant |
Gorlin syndrome [RCV001229335] |
Chr1:44828021 [GRCh38]
Chr1:45293693 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3258-5_3258-3delinsTAGTACCTAGG |
indel |
Gorlin syndrome [RCV001243841] |
Chr1:44823171..44823173 [GRCh38]
Chr1:45288843..45288845 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3286dup (p.Thr1096fs) |
duplication |
Gorlin syndrome [RCV001217904] |
Chr1:44823139..44823140 [GRCh38]
Chr1:45288811..45288812 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.860C>A (p.Ser287Tyr) |
single nucleotide variant |
Gorlin syndrome [RCV001218082] |
Chr1:44829984 [GRCh38]
Chr1:45295656 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1166C>T (p.Ala389Val) |
single nucleotide variant |
Gorlin syndrome [RCV001221481] |
Chr1:44829451 [GRCh38]
Chr1:45295123 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2716G>C (p.Glu906Gln) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV001294096]|Gorlin syndrome [RCV001225190] |
Chr1:44826748 [GRCh38]
Chr1:45292420 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.110G>A (p.Arg37His) |
single nucleotide variant |
Gorlin syndrome [RCV001227836] |
Chr1:44842002 [GRCh38]
Chr1:45307674 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1713C>G (p.Pro571=) |
single nucleotide variant |
not provided [RCV000911429] |
Chr1:44828188 [GRCh38]
Chr1:45293860 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3054C>T (p.Pro1018=) |
single nucleotide variant |
Gorlin syndrome [RCV002066148] |
Chr1:44826310 [GRCh38]
Chr1:45291982 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3183C>T (p.Pro1061=) |
single nucleotide variant |
Gorlin syndrome [RCV002067600]|not provided [RCV000993991] |
Chr1:44823317 [GRCh38]
Chr1:45288989 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.718A>G (p.Lys240Glu) |
single nucleotide variant |
Gorlin syndrome [RCV002254872] |
Chr1:44830943 [GRCh38]
Chr1:45296615 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.73-237_73-236del |
deletion |
not provided [RCV001661012] |
Chr1:44842275..44842276 [GRCh38]
Chr1:45307947..45307948 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.3114+214C>A |
single nucleotide variant |
not provided [RCV001678262] |
Chr1:44826036 [GRCh38]
Chr1:45291708 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.3358-186G>C |
single nucleotide variant |
not provided [RCV001649442] |
Chr1:44822855 [GRCh38]
Chr1:45288527 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.2018G>A (p.Arg673His) |
single nucleotide variant |
Gorlin syndrome [RCV001071505] |
Chr1:44827883 [GRCh38]
Chr1:45293555 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2371+9C>T |
single nucleotide variant |
Gorlin syndrome [RCV001050780] |
Chr1:44827393 [GRCh38]
Chr1:45293065 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NC_000001.11:g.(?_44822405)_(44832351_?)dup |
duplication |
Gorlin syndrome [RCV001031733] |
Chr1:45288077..45298023 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NC_000001.11:g.(?_44822405)_(44823395_?)dup |
duplication |
Gorlin syndrome [RCV001033169] |
Chr1:45288077..45289067 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2410C>T (p.Arg804Cys) |
single nucleotide variant |
Gorlin syndrome [RCV001047330]|not specified [RCV004031468] |
Chr1:44827271 [GRCh38]
Chr1:45292943 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1568C>T (p.Ala523Val) |
single nucleotide variant |
Gorlin syndrome [RCV001049263] |
Chr1:44828528 [GRCh38]
Chr1:45294200 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2318C>T (p.Pro773Leu) |
single nucleotide variant |
Gorlin syndrome [RCV001069238]|not specified [RCV004030705] |
Chr1:44827455 [GRCh38]
Chr1:45293127 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2371+17C>T |
single nucleotide variant |
Gorlin syndrome [RCV002073187]|not provided [RCV001685578] |
Chr1:44827385 [GRCh38]
Chr1:45293057 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.2303C>T (p.Ala768Val) |
single nucleotide variant |
Gorlin syndrome [RCV001070289] |
Chr1:44827470 [GRCh38]
Chr1:45293142 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1465-3C>A |
single nucleotide variant |
Gorlin syndrome [RCV001070703] |
Chr1:44828634 [GRCh38]
Chr1:45294306 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.203C>A (p.Ala68Asp) |
single nucleotide variant |
Gorlin syndrome [RCV001233460] |
Chr1:44841909 [GRCh38]
Chr1:45307581 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.811dup (p.Gln271fs) |
duplication |
Gorlin syndrome [RCV001053121] |
Chr1:44830849..44830850 [GRCh38]
Chr1:45296521..45296522 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3166G>C (p.Glu1056Gln) |
single nucleotide variant |
Gorlin syndrome [RCV001206687] |
Chr1:44823334 [GRCh38]
Chr1:45289006 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.38G>A (p.Ser13Asn) |
single nucleotide variant |
Gorlin syndrome [RCV001212807] |
Chr1:44842895 [GRCh38]
Chr1:45308567 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1574G>A (p.Arg525Gln) |
single nucleotide variant |
Gorlin syndrome [RCV001039754]|not specified [RCV004031117] |
Chr1:44828522 [GRCh38]
Chr1:45294194 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.811C>T (p.Gln271Ter) |
single nucleotide variant |
Gorlin syndrome [RCV001204228] |
Chr1:44830850 [GRCh38]
Chr1:45296522 [GRCh37]
Chr1:1p34.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003738.5(PTCH2):c.3148C>T (p.Arg1050Trp) |
single nucleotide variant |
Gorlin syndrome [RCV001213389] |
Chr1:44823352 [GRCh38]
Chr1:45289024 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1285G>A (p.Gly429Arg) |
single nucleotide variant |
Gorlin syndrome [RCV001218390] |
Chr1:44829243 [GRCh38]
Chr1:45294915 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2431C>T (p.Arg811Cys) |
single nucleotide variant |
Gorlin syndrome [RCV001211557] |
Chr1:44827250 [GRCh38]
Chr1:45292922 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1590+17G>A |
single nucleotide variant |
Gorlin syndrome [RCV001907557] |
Chr1:44828489 [GRCh38]
Chr1:45294161 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1664G>A (p.Arg555Gln) |
single nucleotide variant |
Gorlin syndrome [RCV001062621] |
Chr1:44828341 [GRCh38]
Chr1:45294013 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.277G>A (p.Val93Met) |
single nucleotide variant |
Gorlin syndrome [RCV001216425] |
Chr1:44832330 [GRCh38]
Chr1:45298002 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1490G>A (p.Arg497His) |
single nucleotide variant |
Gorlin syndrome [RCV001233168]|not specified [RCV004033193] |
Chr1:44828606 [GRCh38]
Chr1:45294278 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1342G>A (p.Gly448Ser) |
single nucleotide variant |
Gorlin syndrome [RCV001063003]|not specified [RCV004030476] |
Chr1:44829186 [GRCh38]
Chr1:45294858 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1690G>A (p.Val564Met) |
single nucleotide variant |
Gorlin syndrome [RCV001229619] |
Chr1:44828315 [GRCh38]
Chr1:45293987 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2976+2T>C |
single nucleotide variant |
Gorlin syndrome [RCV001063247] |
Chr1:44826486 [GRCh38]
Chr1:45292158 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2602C>A (p.Pro868Thr) |
single nucleotide variant |
Gorlin syndrome [RCV001350021] |
Chr1:44826995 [GRCh38]
Chr1:45292667 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3410A>C (p.Gln1137Pro) |
single nucleotide variant |
Gorlin syndrome [RCV001301004] |
Chr1:44822617 [GRCh38]
Chr1:45288289 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1987T>C (p.Cys663Arg) |
single nucleotide variant |
Gorlin syndrome [RCV001295218] |
Chr1:44827914 [GRCh38]
Chr1:45293586 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.65C>A (p.Ala22Glu) |
single nucleotide variant |
Gorlin syndrome [RCV001298734] |
Chr1:44842868 [GRCh38]
Chr1:45308540 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.821A>G (p.Asn274Ser) |
single nucleotide variant |
Gorlin syndrome [RCV001316698]|not specified [RCV004034402] |
Chr1:44830023 [GRCh38]
Chr1:45295695 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1667G>A (p.Arg556Gln) |
single nucleotide variant |
Gorlin syndrome [RCV001295965] |
Chr1:44828338 [GRCh38]
Chr1:45294010 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NC_000001.10:g.(?_33241563)_(46663513_?)dup |
duplication |
Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] |
Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2933T>C (p.Val978Ala) |
single nucleotide variant |
Gorlin syndrome [RCV001339867] |
Chr1:44826531 [GRCh38]
Chr1:45292203 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2212G>A (p.Glu738Lys) |
single nucleotide variant |
Gorlin syndrome [RCV001316444] |
Chr1:44827561 [GRCh38]
Chr1:45293233 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2086C>T (p.Leu696Phe) |
single nucleotide variant |
Gorlin syndrome [RCV001320220] |
Chr1:44827687 [GRCh38]
Chr1:45293359 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1726G>T (p.Val576Leu) |
single nucleotide variant |
Gorlin syndrome [RCV001318748] |
Chr1:44828175 [GRCh38]
Chr1:45293847 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2435A>G (p.Asn812Ser) |
single nucleotide variant |
Gorlin syndrome [RCV001351333] |
Chr1:44827246 [GRCh38]
Chr1:45292918 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1558C>A (p.Pro520Thr) |
single nucleotide variant |
Gorlin syndrome [RCV001299633] |
Chr1:44828538 [GRCh38]
Chr1:45294210 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3020T>C (p.Met1007Thr) |
single nucleotide variant |
Gorlin syndrome [RCV001343724]|PTCH2-related disorder [RCV004548188] |
Chr1:44826344 [GRCh38]
Chr1:45292016 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1951G>A (p.Glu651Lys) |
single nucleotide variant |
Gorlin syndrome [RCV001307213] |
Chr1:44827950 [GRCh38]
Chr1:45293622 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3314TGC[4] (p.Leu1107dup) |
microsatellite |
Gorlin syndrome [RCV001361390] |
Chr1:44823103..44823104 [GRCh38]
Chr1:45288775..45288776 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3087C>T (p.Gly1029=) |
single nucleotide variant |
Gorlin syndrome [RCV001412635] |
Chr1:44826277 [GRCh38]
Chr1:45291949 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3479T>C (p.Met1160Thr) |
single nucleotide variant |
Gorlin syndrome [RCV001372574] |
Chr1:44822548 [GRCh38]
Chr1:45288220 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2097G>C (p.Leu699=) |
single nucleotide variant |
Gorlin syndrome [RCV001422353] |
Chr1:44827676 [GRCh38]
Chr1:45293348 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1216-10C>G |
single nucleotide variant |
Gorlin syndrome [RCV001422372] |
Chr1:44829322 [GRCh38]
Chr1:45294994 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1573C>T (p.Arg525Ter) |
single nucleotide variant |
not provided [RCV001357509] |
Chr1:44828523 [GRCh38]
Chr1:45294195 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1341C>T (p.Leu447=) |
single nucleotide variant |
Gorlin syndrome [RCV001414819] |
Chr1:44829187 [GRCh38]
Chr1:45294859 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1476C>A (p.Gly492=) |
single nucleotide variant |
Gorlin syndrome [RCV001397470]|PTCH2-related disorder [RCV004550111]|not provided [RCV003405643] |
Chr1:44828620 [GRCh38]
Chr1:45294292 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2033_2054dup (p.Lys686fs) |
duplication |
Gorlin syndrome [RCV001349421] |
Chr1:44827846..44827847 [GRCh38]
Chr1:45293518..45293519 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.124G>T (p.Gly42Cys) |
single nucleotide variant |
not provided [RCV001358349] |
Chr1:44841988 [GRCh38]
Chr1:45307660 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.813+4G>C |
single nucleotide variant |
Gorlin syndrome [RCV001296606] |
Chr1:44830844 [GRCh38]
Chr1:45296516 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1979C>A (p.Ser660Tyr) |
single nucleotide variant |
Gorlin syndrome [RCV001344627] |
Chr1:44827922 [GRCh38]
Chr1:45293594 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1475G>T (p.Gly492Val) |
single nucleotide variant |
Gorlin syndrome [RCV001322825] |
Chr1:44828621 [GRCh38]
Chr1:45294293 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.997C>T (p.Arg333Trp) |
single nucleotide variant |
Gorlin syndrome [RCV001364236]|not specified [RCV004036908] |
Chr1:44829700 [GRCh38]
Chr1:45295372 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3505del (p.Leu1169fs) |
deletion |
Gorlin syndrome [RCV001360125]|not provided [RCV001354392] |
Chr1:44822522 [GRCh38]
Chr1:45288194 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2263G>A (p.Ala755Thr) |
single nucleotide variant |
Gorlin syndrome [RCV001303528]|not specified [RCV004036280] |
Chr1:44827510 [GRCh38]
Chr1:45293182 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2185G>A (p.Ala729Thr) |
single nucleotide variant |
Gorlin syndrome [RCV001359133] |
Chr1:44827588 [GRCh38]
Chr1:45293260 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2954A>G (p.Asn985Ser) |
single nucleotide variant |
Gorlin syndrome [RCV002547672]|not provided [RCV001357820] |
Chr1:44826510 [GRCh38]
Chr1:45292182 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2180T>G (p.Leu727Arg) |
single nucleotide variant |
Gorlin syndrome [RCV001371963] |
Chr1:44827593 [GRCh38]
Chr1:45293265 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2692C>G (p.Arg898Gly) |
single nucleotide variant |
not provided [RCV001358218] |
Chr1:44826905 [GRCh38]
Chr1:45292577 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2257del (p.Gln753fs) |
deletion |
Gorlin syndrome [RCV001315976] |
Chr1:44827516 [GRCh38]
Chr1:45293188 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3263T>A (p.Phe1088Tyr) |
single nucleotide variant |
Gorlin syndrome [RCV001345099] |
Chr1:44823163 [GRCh38]
Chr1:45288835 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.623G>A (p.Arg208His) |
single nucleotide variant |
Gorlin syndrome [RCV001302064] |
Chr1:44831038 [GRCh38]
Chr1:45296710 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2865A>G (p.Glu955=) |
single nucleotide variant |
Gorlin syndrome [RCV001295479] |
Chr1:44826599 [GRCh38]
Chr1:45292271 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.467T>G (p.Leu156Trp) |
single nucleotide variant |
Gorlin syndrome [RCV001308952]|not specified [RCV004034186] |
Chr1:44832033 [GRCh38]
Chr1:45297705 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1561A>C (p.Ile521Leu) |
single nucleotide variant |
Gorlin syndrome [RCV001362015] |
Chr1:44828535 [GRCh38]
Chr1:45294207 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.668A>G (p.Glu223Gly) |
single nucleotide variant |
Gorlin syndrome [RCV001321250] |
Chr1:44830993 [GRCh38]
Chr1:45296665 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1093G>T (p.Glu365Ter) |
single nucleotide variant |
Gorlin syndrome [RCV001363800] |
Chr1:44829524 [GRCh38]
Chr1:45295196 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.523C>T (p.Arg175Trp) |
single nucleotide variant |
Gorlin syndrome [RCV001299728] |
Chr1:44831977 [GRCh38]
Chr1:45297649 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1371+5G>A |
single nucleotide variant |
Gorlin syndrome [RCV001344618] |
Chr1:44829152 [GRCh38]
Chr1:45294824 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2654G>A (p.Trp885Ter) |
single nucleotide variant |
Gorlin syndrome [RCV001336077] |
Chr1:44826943 [GRCh38]
Chr1:45292615 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_003738.5(PTCH2):c.50del (p.Pro17fs) |
deletion |
Gorlin syndrome [RCV001295882] |
Chr1:44842883 [GRCh38]
Chr1:45308555 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.639del (p.Gln212_Trp213insTer) |
deletion |
Gorlin syndrome [RCV001299615] |
Chr1:44831022 [GRCh38]
Chr1:45296694 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3453G>A (p.Gln1151=) |
single nucleotide variant |
Gorlin syndrome [RCV001421068] |
Chr1:44822574 [GRCh38]
Chr1:45288246 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2219C>T (p.Ala740Val) |
single nucleotide variant |
Gorlin syndrome [RCV001316483] |
Chr1:44827554 [GRCh38]
Chr1:45293226 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2356C>T (p.Arg786Cys) |
single nucleotide variant |
Gorlin syndrome [RCV001368448] |
Chr1:44827417 [GRCh38]
Chr1:45293089 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3539_3542dup (p.Pro1182fs) |
duplication |
Gorlin syndrome [RCV001360608] |
Chr1:44822484..44822485 [GRCh38]
Chr1:45288156..45288157 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2514+1G>T |
single nucleotide variant |
Gorlin syndrome [RCV001372055] |
Chr1:44827166 [GRCh38]
Chr1:45292838 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.773_775del (p.Leu258del) |
deletion |
Gorlin syndrome [RCV001312836] |
Chr1:44830886..44830888 [GRCh38]
Chr1:45296558..45296560 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2884C>T (p.Arg962Cys) |
single nucleotide variant |
Gorlin syndrome [RCV001369064]|PTCH2-related disorder [RCV004550091] |
Chr1:44826580 [GRCh38]
Chr1:45292252 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1634T>C (p.Val545Ala) |
single nucleotide variant |
Gorlin syndrome [RCV001369163] |
Chr1:44828371 [GRCh38]
Chr1:45294043 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3270G>C (p.Ala1090=) |
single nucleotide variant |
Gorlin syndrome [RCV001395769] |
Chr1:44823156 [GRCh38]
Chr1:45288828 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.246G>T (p.Leu82Phe) |
single nucleotide variant |
Gorlin syndrome [RCV001297220]|not specified [RCV004036066] |
Chr1:44841866 [GRCh38]
Chr1:45307538 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1716C>T (p.Cys572=) |
single nucleotide variant |
Gorlin syndrome [RCV001421105] |
Chr1:44828185 [GRCh38]
Chr1:45293857 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3233G>T (p.Gly1078Val) |
single nucleotide variant |
Gorlin syndrome [RCV001305241] |
Chr1:44823267 [GRCh38]
Chr1:45288939 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3291C>G (p.Leu1097=) |
single nucleotide variant |
Gorlin syndrome [RCV001401984] |
Chr1:44823135 [GRCh38]
Chr1:45288807 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2904C>T (p.Val968=) |
single nucleotide variant |
Gorlin syndrome [RCV001492203]|PTCH2-related disorder [RCV004550255] |
Chr1:44826560 [GRCh38]
Chr1:45292232 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2155C>T (p.Arg719Trp) |
single nucleotide variant |
Gorlin syndrome [RCV001441168] |
Chr1:44827618 [GRCh38]
Chr1:45293290 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1563C>T (p.Ile521=) |
single nucleotide variant |
Gorlin syndrome [RCV001455013] |
Chr1:44828533 [GRCh38]
Chr1:45294205 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2487C>T (p.Asp829=) |
single nucleotide variant |
Gorlin syndrome [RCV001514821]|not provided [RCV001638105]|not specified [RCV004037929] |
Chr1:44827194 [GRCh38]
Chr1:45292866 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.2055T>C (p.Ala685=) |
single nucleotide variant |
Gorlin syndrome [RCV001514822]|not provided [RCV001664924]|not specified [RCV004037930] |
Chr1:44827846 [GRCh38]
Chr1:45293518 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.2166G>A (p.Lys722=) |
single nucleotide variant |
Gorlin syndrome [RCV001454326] |
Chr1:44827607 [GRCh38]
Chr1:45293279 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1221C>A (p.Ala407=) |
single nucleotide variant |
Gorlin syndrome [RCV001436255] |
Chr1:44829307 [GRCh38]
Chr1:45294979 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2829C>T (p.His943=) |
single nucleotide variant |
Gorlin syndrome [RCV001471907] |
Chr1:44826635 [GRCh38]
Chr1:45292307 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1554C>T (p.Leu518=) |
single nucleotide variant |
Gorlin syndrome [RCV001470081] |
Chr1:44828542 [GRCh38]
Chr1:45294214 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2562G>A (p.Glu854=) |
single nucleotide variant |
Gorlin syndrome [RCV001498353] |
Chr1:44827035 [GRCh38]
Chr1:45292707 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1839G>A (p.Val613=) |
single nucleotide variant |
Gorlin syndrome [RCV001430025] |
Chr1:44828062 [GRCh38]
Chr1:45293734 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2901C>G (p.Ala967=) |
single nucleotide variant |
Gorlin syndrome [RCV001437315] |
Chr1:44826563 [GRCh38]
Chr1:45292235 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2070G>C (p.Leu690=) |
single nucleotide variant |
Gorlin syndrome [RCV001400885] |
Chr1:44827703 [GRCh38]
Chr1:45293375 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.891G>A (p.Leu297=) |
single nucleotide variant |
Gorlin syndrome [RCV001446811] |
Chr1:44829953 [GRCh38]
Chr1:45295625 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2472C>T (p.Leu824=) |
single nucleotide variant |
Gorlin syndrome [RCV001407684] |
Chr1:44827209 [GRCh38]
Chr1:45292881 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.561C>T (p.Thr187=) |
single nucleotide variant |
Gorlin syndrome [RCV001399868] |
Chr1:44831762 [GRCh38]
Chr1:45297434 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3312C>G (p.Leu1104=) |
single nucleotide variant |
Gorlin syndrome [RCV001407949] |
Chr1:44823114 [GRCh38]
Chr1:45288786 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1494G>A (p.Thr498=) |
single nucleotide variant |
Gorlin syndrome [RCV001397871] |
Chr1:44828602 [GRCh38]
Chr1:45294274 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2262C>T (p.Arg754=) |
single nucleotide variant |
Gorlin syndrome [RCV001429540] |
Chr1:44827511 [GRCh38]
Chr1:45293183 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3411G>A (p.Gln1137=) |
single nucleotide variant |
Gorlin syndrome [RCV001427313] |
Chr1:44822616 [GRCh38]
Chr1:45288288 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2940T>C (p.Ala980=) |
single nucleotide variant |
Gorlin syndrome [RCV001404068] |
Chr1:44826524 [GRCh38]
Chr1:45292196 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2616A>C (p.Ala872=) |
single nucleotide variant |
Gorlin syndrome [RCV001406595] |
Chr1:44826981 [GRCh38]
Chr1:45292653 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1718C>T (p.Ser573Phe) |
single nucleotide variant |
Gorlin syndrome [RCV001429980] |
Chr1:44828183 [GRCh38]
Chr1:45293855 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.813+243C>T |
single nucleotide variant |
not provided [RCV001681475] |
Chr1:44830605 [GRCh38]
Chr1:45296277 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.1380C>T (p.Pro460=) |
single nucleotide variant |
Gorlin syndrome [RCV001479023] |
Chr1:44829066 [GRCh38]
Chr1:45294738 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3358-4A>T |
single nucleotide variant |
Gorlin syndrome [RCV001473629] |
Chr1:44822673 [GRCh38]
Chr1:45288345 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3606T>C (p.Thr1202=) |
single nucleotide variant |
Gorlin syndrome [RCV001491390] |
Chr1:44822421 [GRCh38]
Chr1:45288093 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.832G>A (p.Glu278Lys) |
single nucleotide variant |
Gorlin syndrome [RCV001526822] |
Chr1:44830012 [GRCh38]
Chr1:45295684 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3345C>T (p.Gly1115=) |
single nucleotide variant |
Gorlin syndrome [RCV001496593] |
Chr1:44823081 [GRCh38]
Chr1:45288753 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1188C>G (p.Ala396=) |
single nucleotide variant |
Gorlin syndrome [RCV001476358] |
Chr1:44829429 [GRCh38]
Chr1:45295101 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2955C>T (p.Asn985=) |
single nucleotide variant |
Gorlin syndrome [RCV001453708]|PTCH2-related disorder [RCV004550198] |
Chr1:44826509 [GRCh38]
Chr1:45292181 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2901C>T (p.Ala967=) |
single nucleotide variant |
Gorlin syndrome [RCV001419221] |
Chr1:44826563 [GRCh38]
Chr1:45292235 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2420G>A (p.Arg807His) |
single nucleotide variant |
Gorlin syndrome [RCV001470054]|not specified [RCV004037098] |
Chr1:44827261 [GRCh38]
Chr1:45292933 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_003738.5(PTCH2):c.2922C>T (p.Cys974=) |
single nucleotide variant |
Gorlin syndrome [RCV001467168] |
Chr1:44826542 [GRCh38]
Chr1:45292214 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2508C>T (p.Phe836=) |
single nucleotide variant |
Gorlin syndrome [RCV001506483] |
Chr1:44827173 [GRCh38]
Chr1:45292845 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.455+8T>C |
single nucleotide variant |
Gorlin syndrome [RCV001465698] |
Chr1:44832144 [GRCh38]
Chr1:45297816 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1587A>C (p.Leu529=) |
single nucleotide variant |
Gorlin syndrome [RCV001487986] |
Chr1:44828509 [GRCh38]
Chr1:45294181 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1770A>C (p.Pro590=) |
single nucleotide variant |
Gorlin syndrome [RCV001470960] |
Chr1:44828131 [GRCh38]
Chr1:45293803 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2372-4C>T |
single nucleotide variant |
Gorlin syndrome [RCV001513536] |
Chr1:44827313 [GRCh38]
Chr1:45292985 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.2695+10G>T |
single nucleotide variant |
Gorlin syndrome [RCV001457754] |
Chr1:44826892 [GRCh38]
Chr1:45292564 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1216-5C>T |
single nucleotide variant |
Gorlin syndrome [RCV001478238] |
Chr1:44829317 [GRCh38]
Chr1:45294989 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.162T>C (p.His54=) |
single nucleotide variant |
Gorlin syndrome [RCV001401823] |
Chr1:44841950 [GRCh38]
Chr1:45307622 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2106C>T (p.Tyr702=) |
single nucleotide variant |
Gorlin syndrome [RCV001417862] |
Chr1:44827667 [GRCh38]
Chr1:45293339 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2034G>A (p.Pro678=) |
single nucleotide variant |
Gorlin syndrome [RCV001466168] |
Chr1:44827867 [GRCh38]
Chr1:45293539 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2646T>C (p.Pro882=) |
single nucleotide variant |
Gorlin syndrome [RCV001467792] |
Chr1:44826951 [GRCh38]
Chr1:45292623 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1785C>T (p.His595=) |
single nucleotide variant |
Gorlin syndrome [RCV001415662] |
Chr1:44828116 [GRCh38]
Chr1:45293788 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3564T>A (p.Thr1188=) |
single nucleotide variant |
Gorlin syndrome [RCV001398220] |
Chr1:44822463 [GRCh38]
Chr1:45288135 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1821A>G (p.Glu607=) |
single nucleotide variant |
Gorlin syndrome [RCV001521658]|not provided [RCV001712941]|not specified [RCV004037953] |
Chr1:44828080 [GRCh38]
Chr1:45293752 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.1464+8_1464+17del |
deletion |
Gorlin syndrome [RCV001467901] |
Chr1:44828965..44828974 [GRCh38]
Chr1:45294637..45294646 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.285G>A (p.Gln95=) |
single nucleotide variant |
Gorlin syndrome [RCV001398359] |
Chr1:44832322 [GRCh38]
Chr1:45297994 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.831C>T (p.His277=) |
single nucleotide variant |
Gorlin syndrome [RCV001418296] |
Chr1:44830013 [GRCh38]
Chr1:45295685 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1790C>A (p.Thr597Asn) |
single nucleotide variant |
Gorlin syndrome [RCV001418769]|not specified [RCV004038158] |
Chr1:44828111 [GRCh38]
Chr1:45293783 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_003738.5(PTCH2):c.1431C>T (p.Ala477=) |
single nucleotide variant |
Gorlin syndrome [RCV001401397] |
Chr1:44829015 [GRCh38]
Chr1:45294687 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2172T>C (p.His724=) |
single nucleotide variant |
Gorlin syndrome [RCV001401043] |
Chr1:44827601 [GRCh38]
Chr1:45293273 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.-307G>C |
single nucleotide variant |
not provided [RCV001759092] |
Chr1:44843239 [GRCh38]
Chr1:45308911 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.-13C>G |
single nucleotide variant |
not provided [RCV001769579] |
Chr1:44842945 [GRCh38]
Chr1:45308617 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3358-140C>T |
single nucleotide variant |
not provided [RCV001769583] |
Chr1:44822809 [GRCh38]
Chr1:45288481 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1590+34G>A |
single nucleotide variant |
not provided [RCV001768123] |
Chr1:44828472 [GRCh38]
Chr1:45294144 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.813+264T>G |
single nucleotide variant |
not provided [RCV001769584] |
Chr1:44830584 [GRCh38]
Chr1:45296256 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3454A>G (p.Ser1152Gly) |
single nucleotide variant |
Gorlin syndrome [RCV001788943] |
Chr1:44822573 [GRCh38]
Chr1:45288245 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3258G>C (p.Arg1086Ser) |
single nucleotide variant |
Gorlin syndrome [RCV001788981] |
Chr1:44823168 [GRCh38]
Chr1:45288840 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1590+22A>G |
single nucleotide variant |
Gorlin syndrome [RCV001789605] |
Chr1:44828484 [GRCh38]
Chr1:45294156 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.3115-212G>A |
single nucleotide variant |
not provided [RCV001758973] |
Chr1:44823597 [GRCh38]
Chr1:45289269 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.266-45C>T |
single nucleotide variant |
not provided [RCV001758975] |
Chr1:44832386 [GRCh38]
Chr1:45298058 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.-222G>A |
single nucleotide variant |
not provided [RCV001769580] |
Chr1:44843154 [GRCh38]
Chr1:45308826 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.456-37T>G |
single nucleotide variant |
not provided [RCV001769582] |
Chr1:44832081 [GRCh38]
Chr1:45297753 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.265+13C>T |
single nucleotide variant |
Gorlin syndrome [RCV001789606] |
Chr1:44841834 [GRCh38]
Chr1:45307506 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.266-239A>G |
single nucleotide variant |
not provided [RCV001759086] |
Chr1:44832580 [GRCh38]
Chr1:45298252 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.814-289T>C |
single nucleotide variant |
not provided [RCV001759355] |
Chr1:44830319 [GRCh38]
Chr1:45295991 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3358-151C>G |
single nucleotide variant |
not provided [RCV001758871] |
Chr1:44822820 [GRCh38]
Chr1:45288492 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.632T>A (p.Ile211Asn) |
single nucleotide variant |
Gorlin syndrome [RCV002009382] |
Chr1:44831029 [GRCh38]
Chr1:45296701 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NC_000001.10:g.(?_45288087)_(45809328_?)dup |
duplication |
Familial adenomatous polyposis 2 [RCV001877385] |
Chr1:45288087..45809328 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2925_2926insGCT (p.Thr975_Phe976insAla) |
insertion |
Gorlin syndrome [RCV001893603] |
Chr1:44826538..44826539 [GRCh38]
Chr1:45292210..45292211 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2247C>A (p.Tyr749Ter) |
single nucleotide variant |
Gorlin syndrome [RCV002024789] |
Chr1:44827526 [GRCh38]
Chr1:45293198 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3427T>G (p.Trp1143Gly) |
single nucleotide variant |
Gorlin syndrome [RCV001950572] |
Chr1:44822600 [GRCh38]
Chr1:45288272 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.901G>A (p.Gly301Ser) |
single nucleotide variant |
Gorlin syndrome [RCV002025860]|not specified [RCV004046102] |
Chr1:44829943 [GRCh38]
Chr1:45295615 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.221G>A (p.Arg74His) |
single nucleotide variant |
Gorlin syndrome [RCV001950577] |
Chr1:44841891 [GRCh38]
Chr1:45307563 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2563C>T (p.Leu855Phe) |
single nucleotide variant |
Gorlin syndrome [RCV001929634] |
Chr1:44827034 [GRCh38]
Chr1:45292706 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NC_000001.10:g.(?_45288087)_(45289067_?)dup |
duplication |
Gorlin syndrome [RCV001950281] |
Chr1:45288087..45289067 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.277G>C (p.Val93Leu) |
single nucleotide variant |
Gorlin syndrome [RCV001894249] |
Chr1:44832330 [GRCh38]
Chr1:45298002 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1737C>G (p.Ile579Met) |
single nucleotide variant |
Gorlin syndrome [RCV001894585] |
Chr1:44828164 [GRCh38]
Chr1:45293836 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2290A>G (p.Ser764Gly) |
single nucleotide variant |
Gorlin syndrome [RCV001863381] |
Chr1:44827483 [GRCh38]
Chr1:45293155 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1682G>A (p.Arg561His) |
single nucleotide variant |
Gorlin syndrome [RCV001913418]|not specified [RCV004042821] |
Chr1:44828323 [GRCh38]
Chr1:45293995 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2419C>T (p.Arg807Cys) |
single nucleotide variant |
Gorlin syndrome [RCV002008255] |
Chr1:44827262 [GRCh38]
Chr1:45292934 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2810C>T (p.Ala937Val) |
single nucleotide variant |
Gorlin syndrome [RCV001912396] |
Chr1:44826654 [GRCh38]
Chr1:45292326 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1492A>G (p.Thr498Ala) |
single nucleotide variant |
Gorlin syndrome [RCV001948034] |
Chr1:44828604 [GRCh38]
Chr1:45294276 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2033C>T (p.Pro678Leu) |
single nucleotide variant |
Gorlin syndrome [RCV002022891] |
Chr1:44827868 [GRCh38]
Chr1:45293540 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2944_2945delinsGG (p.Leu982Gly) |
indel |
Gorlin syndrome [RCV002043280] |
Chr1:44826519..44826520 [GRCh38]
Chr1:45292191..45292192 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.939_946del (p.Glu314fs) |
deletion |
Gorlin syndrome [RCV001926612] |
Chr1:44829751..44829758 [GRCh38]
Chr1:45295423..45295430 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1216-1G>C |
single nucleotide variant |
Gorlin syndrome [RCV002006008] |
Chr1:44829313 [GRCh38]
Chr1:45294985 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.184G>A (p.Gly62Arg) |
single nucleotide variant |
Gorlin syndrome [RCV001947365]|not specified [RCV004040402] |
Chr1:44841928 [GRCh38]
Chr1:45307600 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3607G>A (p.Gly1203Arg) |
single nucleotide variant |
Gorlin syndrome [RCV001967379] |
Chr1:44822420 [GRCh38]
Chr1:45288092 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1913C>G (p.Pro638Arg) |
single nucleotide variant |
Gorlin syndrome [RCV001926798] |
Chr1:44827988 [GRCh38]
Chr1:45293660 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1621G>T (p.Ala541Ser) |
single nucleotide variant |
Gorlin syndrome [RCV001913603] |
Chr1:44828384 [GRCh38]
Chr1:45294056 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1081C>T (p.Gln361Ter) |
single nucleotide variant |
Breast carcinoma [RCV003233038]|Gorlin syndrome [RCV001987232]|not specified [RCV003317555] |
Chr1:44829616 [GRCh38]
Chr1:45295288 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.516G>A (p.Met172Ile) |
single nucleotide variant |
Gorlin syndrome [RCV001948827] |
Chr1:44831984 [GRCh38]
Chr1:45297656 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3417C>T (p.Gly1139=) |
single nucleotide variant |
Gorlin syndrome [RCV001911579] |
Chr1:44822610 [GRCh38]
Chr1:45288282 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_003738.5(PTCH2):c.1816T>C (p.Cys606Arg) |
single nucleotide variant |
Gorlin syndrome [RCV001909938] |
Chr1:44828085 [GRCh38]
Chr1:45293757 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2697C>A (p.Ile899=) |
single nucleotide variant |
Gorlin syndrome [RCV002024675] |
Chr1:44826767 [GRCh38]
Chr1:45292439 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2776G>T (p.Ala926Ser) |
single nucleotide variant |
Gorlin syndrome [RCV001894199] |
Chr1:44826688 [GRCh38]
Chr1:45292360 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.527T>G (p.Met176Arg) |
single nucleotide variant |
Gorlin syndrome [RCV001964818] |
Chr1:44831796 [GRCh38]
Chr1:45297468 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.738C>G (p.Ala246=) |
single nucleotide variant |
Gorlin syndrome [RCV001908858] |
Chr1:44830923 [GRCh38]
Chr1:45296595 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.571del (p.Cys191fs) |
deletion |
Gorlin syndrome [RCV002044406] |
Chr1:44831752 [GRCh38]
Chr1:45297424 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1756G>T (p.Asp586Tyr) |
single nucleotide variant |
Gorlin syndrome [RCV001948239]|not specified [RCV004041842] |
Chr1:44828145 [GRCh38]
Chr1:45293817 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2260C>T (p.Arg754Cys) |
single nucleotide variant |
Gorlin syndrome [RCV002005266] |
Chr1:44827513 [GRCh38]
Chr1:45293185 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) |
copy number gain |
not specified [RCV002052781] |
Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33 |
pathogenic |
| NM_003738.5(PTCH2):c.286G>A (p.Glu96Lys) |
single nucleotide variant |
Gorlin syndrome [RCV002042346] |
Chr1:44832321 [GRCh38]
Chr1:45297993 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856) |
copy number loss |
not specified [RCV002053281] |
Chr1:45303358..52157856 [GRCh37]
Chr1:1p34.1-32.3 |
likely pathogenic |
| NM_003738.5(PTCH2):c.1243C>T (p.Arg415Trp) |
single nucleotide variant |
Gorlin syndrome [RCV001985045] |
Chr1:44829285 [GRCh38]
Chr1:45294957 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.550G>A (p.Val184Met) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV002484628]|Gorlin syndrome [RCV001948677] |
Chr1:44831773 [GRCh38]
Chr1:45297445 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2582C>G (p.Thr861Ser) |
single nucleotide variant |
Gorlin syndrome [RCV001872551] |
Chr1:44827015 [GRCh38]
Chr1:45292687 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.935+6G>A |
single nucleotide variant |
Gorlin syndrome [RCV001968490] |
Chr1:44829903 [GRCh38]
Chr1:45295575 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2540G>A (p.Arg847Lys) |
single nucleotide variant |
Gorlin syndrome [RCV002006187] |
Chr1:44827057 [GRCh38]
Chr1:45292729 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1111G>A (p.Ala371Thr) |
single nucleotide variant |
Gorlin syndrome [RCV001968073] |
Chr1:44829506 [GRCh38]
Chr1:45295178 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2964G>A (p.Thr988=) |
single nucleotide variant |
Gorlin syndrome [RCV001890264] |
Chr1:44826500 [GRCh38]
Chr1:45292172 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1083G>C (p.Gln361His) |
single nucleotide variant |
Gorlin syndrome [RCV001843807] |
Chr1:44829614 [GRCh38]
Chr1:45295286 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2728T>A (p.Phe910Ile) |
single nucleotide variant |
Gorlin syndrome [RCV001910285] |
Chr1:44826736 [GRCh38]
Chr1:45292408 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1517C>A (p.Ser506Tyr) |
single nucleotide variant |
Gorlin syndrome [RCV001911522] |
Chr1:44828579 [GRCh38]
Chr1:45294251 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2276T>A (p.Leu759Gln) |
single nucleotide variant |
Gorlin syndrome [RCV001911665] |
Chr1:44827497 [GRCh38]
Chr1:45293169 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2644C>T (p.Pro882Ser) |
single nucleotide variant |
Gorlin syndrome [RCV001925482] |
Chr1:44826953 [GRCh38]
Chr1:45292625 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NC_000001.10:g.(?_45307509)_(45308604_?)dup |
duplication |
Gorlin syndrome [RCV001900602] |
Chr1:45307509..45308604 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3271G>A (p.Ala1091Thr) |
single nucleotide variant |
Gorlin syndrome [RCV002047099] |
Chr1:44823155 [GRCh38]
Chr1:45288827 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2411G>A (p.Arg804His) |
single nucleotide variant |
Gorlin syndrome [RCV002019621] |
Chr1:44827270 [GRCh38]
Chr1:45292942 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.72+14G>A |
single nucleotide variant |
Gorlin syndrome [RCV002037679] |
Chr1:44842847 [GRCh38]
Chr1:45308519 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2059G>T (p.Ala687Ser) |
single nucleotide variant |
Gorlin syndrome [RCV002027373] |
Chr1:44827714 [GRCh38]
Chr1:45293386 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2754G>C (p.Gln918His) |
single nucleotide variant |
Gorlin syndrome [RCV001943373] |
Chr1:44826710 [GRCh38]
Chr1:45292382 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1829G>T (p.Ser610Ile) |
single nucleotide variant |
Gorlin syndrome [RCV001958291] |
Chr1:44828072 [GRCh38]
Chr1:45293744 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3083T>C (p.Ile1028Thr) |
single nucleotide variant |
Gorlin syndrome [RCV001878300] |
Chr1:44826281 [GRCh38]
Chr1:45291953 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3270G>A (p.Ala1090=) |
single nucleotide variant |
Gorlin syndrome [RCV001917426] |
Chr1:44823156 [GRCh38]
Chr1:45288828 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3011_3012del (p.Phe1004fs) |
deletion |
Gorlin syndrome [RCV002037984] |
Chr1:44826352..44826353 [GRCh38]
Chr1:45292024..45292025 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1991C>T (p.Ala664Val) |
single nucleotide variant |
Gorlin syndrome [RCV001903041] |
Chr1:44827910 [GRCh38]
Chr1:45293582 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2977-5C>A |
single nucleotide variant |
Gorlin syndrome [RCV001992231] |
Chr1:44826392 [GRCh38]
Chr1:45292064 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.266T>C (p.Val89Ala) |
single nucleotide variant |
Gorlin syndrome [RCV001919280] |
Chr1:44832341 [GRCh38]
Chr1:45298013 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.360C>T (p.Arg120=) |
single nucleotide variant |
Gorlin syndrome [RCV001996256] |
Chr1:44832247 [GRCh38]
Chr1:45297919 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_003738.5(PTCH2):c.2927T>C (p.Phe976Ser) |
single nucleotide variant |
Gorlin syndrome [RCV001990026] |
Chr1:44826537 [GRCh38]
Chr1:45292209 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1526dup (p.Asn509fs) |
duplication |
Gorlin syndrome [RCV001954744] |
Chr1:44828569..44828570 [GRCh38]
Chr1:45294241..45294242 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3158A>G (p.His1053Arg) |
single nucleotide variant |
Gorlin syndrome [RCV001934292] |
Chr1:44823342 [GRCh38]
Chr1:45289014 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NC_000001.10:g.(?_45295206)_(45297698_?)del |
deletion |
Gorlin syndrome [RCV001877809] |
Chr1:45295206..45297698 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2247C>T (p.Tyr749=) |
single nucleotide variant |
Gorlin syndrome [RCV001956602] |
Chr1:44827526 [GRCh38]
Chr1:45293198 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.626C>T (p.Pro209Leu) |
single nucleotide variant |
Gorlin syndrome [RCV001866459]|not specified [RCV004038998] |
Chr1:44831035 [GRCh38]
Chr1:45296707 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.106C>G (p.Leu36Val) |
single nucleotide variant |
Gorlin syndrome [RCV002051142] |
Chr1:44842006 [GRCh38]
Chr1:45307678 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2174C>G (p.Ala725Gly) |
single nucleotide variant |
Gorlin syndrome [RCV001919785] |
Chr1:44827599 [GRCh38]
Chr1:45293271 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1624G>A (p.Val542Met) |
single nucleotide variant |
Gorlin syndrome [RCV001933099] |
Chr1:44828381 [GRCh38]
Chr1:45294053 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2017C>T (p.Arg673Cys) |
single nucleotide variant |
Gorlin syndrome [RCV002015367]|not specified [RCV004045477] |
Chr1:44827884 [GRCh38]
Chr1:45293556 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2665_2666insTTCAGGGG (p.Lys889fs) |
insertion |
Gorlin syndrome [RCV001956836] |
Chr1:44826931..44826932 [GRCh38]
Chr1:45292603..45292604 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3410A>G (p.Gln1137Arg) |
single nucleotide variant |
Gorlin syndrome [RCV002029195] |
Chr1:44822617 [GRCh38]
Chr1:45288289 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1215+18C>T |
single nucleotide variant |
Gorlin syndrome [RCV001925091] |
Chr1:44829384 [GRCh38]
Chr1:45295056 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_003738.5(PTCH2):c.3149G>A (p.Arg1050Gln) |
single nucleotide variant |
Gorlin syndrome [RCV002050920] |
Chr1:44823351 [GRCh38]
Chr1:45289023 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2572A>T (p.Met858Leu) |
single nucleotide variant |
Gorlin syndrome [RCV001876549] |
Chr1:44827025 [GRCh38]
Chr1:45292697 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2417C>A (p.Thr806Asn) |
single nucleotide variant |
Gorlin syndrome [RCV001899505] |
Chr1:44827264 [GRCh38]
Chr1:45292936 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1255G>A (p.Ala419Thr) |
single nucleotide variant |
Gorlin syndrome [RCV002013198] |
Chr1:44829273 [GRCh38]
Chr1:45294945 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.608C>T (p.Ala203Val) |
single nucleotide variant |
Gorlin syndrome [RCV001901027] |
Chr1:44831715 [GRCh38]
Chr1:45297387 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1216C>A (p.Leu406Met) |
single nucleotide variant |
Gorlin syndrome [RCV001883459] |
Chr1:44829312 [GRCh38]
Chr1:45294984 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1786C>G (p.Leu596Val) |
single nucleotide variant |
Gorlin syndrome [RCV001904264] |
Chr1:44828115 [GRCh38]
Chr1:45293787 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3506T>C (p.Leu1169Pro) |
single nucleotide variant |
Gorlin syndrome [RCV001976131] |
Chr1:44822521 [GRCh38]
Chr1:45288193 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1726G>A (p.Val576Met) |
single nucleotide variant |
Gorlin syndrome [RCV002009822]|not specified [RCV004042396] |
Chr1:44828175 [GRCh38]
Chr1:45293847 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.72+5G>T |
single nucleotide variant |
Gorlin syndrome [RCV001952533] |
Chr1:44842856 [GRCh38]
Chr1:45308528 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2996T>C (p.Met999Thr) |
single nucleotide variant |
Gorlin syndrome [RCV001901331] |
Chr1:44826368 [GRCh38]
Chr1:45292040 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3257+1G>A |
single nucleotide variant |
Gorlin syndrome [RCV002031477] |
Chr1:44823242 [GRCh38]
Chr1:45288914 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1083+4G>A |
single nucleotide variant |
Gorlin syndrome [RCV001940656]|PTCH2-related disorder [RCV004552111] |
Chr1:44829610 [GRCh38]
Chr1:45295282 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_003738.5(PTCH2):c.524G>T (p.Arg175Leu) |
single nucleotide variant |
Gorlin syndrome [RCV001955273] |
Chr1:44831976 [GRCh38]
Chr1:45297648 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2932G>A (p.Val978Ile) |
single nucleotide variant |
Gorlin syndrome [RCV001918929] |
Chr1:44826532 [GRCh38]
Chr1:45292204 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2487C>A (p.Asp829Glu) |
single nucleotide variant |
Gorlin syndrome [RCV002011378] |
Chr1:44827194 [GRCh38]
Chr1:45292866 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2275C>A (p.Leu759Met) |
single nucleotide variant |
Gorlin syndrome [RCV001997088] |
Chr1:44827498 [GRCh38]
Chr1:45293170 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3076G>A (p.Val1026Ile) |
single nucleotide variant |
Gorlin syndrome [RCV001938833] |
Chr1:44826288 [GRCh38]
Chr1:45291960 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3506del (p.Leu1169fs) |
deletion |
Gorlin syndrome [RCV001980373] |
Chr1:44822521 [GRCh38]
Chr1:45288193 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1583C>T (p.Ser528Phe) |
single nucleotide variant |
Gorlin syndrome [RCV001924025] |
Chr1:44828513 [GRCh38]
Chr1:45294185 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.530T>C (p.Ile177Thr) |
single nucleotide variant |
Gorlin syndrome [RCV002036205] |
Chr1:44831793 [GRCh38]
Chr1:45297465 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3272C>T (p.Ala1091Val) |
single nucleotide variant |
Gorlin syndrome [RCV001906116] |
Chr1:44823154 [GRCh38]
Chr1:45288826 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.791C>A (p.Ala264Asp) |
single nucleotide variant |
Gorlin syndrome [RCV001999111] |
Chr1:44830870 [GRCh38]
Chr1:45296542 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1218G>A (p.Leu406=) |
single nucleotide variant |
Gorlin syndrome [RCV001960294] |
Chr1:44829310 [GRCh38]
Chr1:45294982 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1078G>C (p.Val360Leu) |
single nucleotide variant |
Gorlin syndrome [RCV001940404] |
Chr1:44829619 [GRCh38]
Chr1:45295291 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1448C>T (p.Pro483Leu) |
single nucleotide variant |
Gorlin syndrome [RCV001884397] |
Chr1:44828998 [GRCh38]
Chr1:45294670 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2923A>T (p.Thr975Ser) |
single nucleotide variant |
Gorlin syndrome [RCV001922624] |
Chr1:44826541 [GRCh38]
Chr1:45292213 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2014G>A (p.Ala672Thr) |
single nucleotide variant |
Gorlin syndrome [RCV001994389] |
Chr1:44827887 [GRCh38]
Chr1:45293559 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2319G>A (p.Pro773=) |
single nucleotide variant |
Gorlin syndrome [RCV001915826] |
Chr1:44827454 [GRCh38]
Chr1:45293126 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.763C>G (p.Pro255Ala) |
single nucleotide variant |
Gorlin syndrome [RCV001901730]|not specified [RCV004042626] |
Chr1:44830898 [GRCh38]
Chr1:45296570 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.800A>G (p.His267Arg) |
single nucleotide variant |
Gorlin syndrome [RCV001936111] |
Chr1:44830861 [GRCh38]
Chr1:45296533 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.526-2A>G |
single nucleotide variant |
Gorlin syndrome [RCV001978841] |
Chr1:44831799 [GRCh38]
Chr1:45297471 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.73A>C (p.Ile25Leu) |
single nucleotide variant |
Gorlin syndrome [RCV002011820] |
Chr1:44842039 [GRCh38]
Chr1:45307711 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.953G>A (p.Ser318Asn) |
single nucleotide variant |
Gorlin syndrome [RCV001920594] |
Chr1:44829744 [GRCh38]
Chr1:45295416 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1417del (p.Leu473fs) |
deletion |
Gorlin syndrome [RCV001993880] |
Chr1:44829029 [GRCh38]
Chr1:45294701 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3357+14C>T |
single nucleotide variant |
Gorlin syndrome [RCV002031089] |
Chr1:44823055 [GRCh38]
Chr1:45288727 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.359G>T (p.Arg120Leu) |
single nucleotide variant |
Gorlin syndrome [RCV002009994] |
Chr1:44832248 [GRCh38]
Chr1:45297920 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.755G>A (p.Cys252Tyr) |
single nucleotide variant |
Gorlin syndrome [RCV001904607]|not specified [RCV004039708] |
Chr1:44830906 [GRCh38]
Chr1:45296578 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2432G>A (p.Arg811His) |
single nucleotide variant |
Gorlin syndrome [RCV002026892]|not specified [RCV004046871] |
Chr1:44827249 [GRCh38]
Chr1:45292921 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.312G>T (p.Leu104=) |
single nucleotide variant |
Gorlin syndrome [RCV002073866] |
Chr1:44832295 [GRCh38]
Chr1:45297967 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3114+18G>A |
single nucleotide variant |
Gorlin syndrome [RCV002210327] |
Chr1:44826232 [GRCh38]
Chr1:45291904 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.455+13G>A |
single nucleotide variant |
Gorlin syndrome [RCV002166228] |
Chr1:44832139 [GRCh38]
Chr1:45297811 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3340C>T (p.Leu1114=) |
single nucleotide variant |
Gorlin syndrome [RCV002104365] |
Chr1:44823086 [GRCh38]
Chr1:45288758 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.801T>C (p.His267=) |
single nucleotide variant |
Gorlin syndrome [RCV002188945] |
Chr1:44830860 [GRCh38]
Chr1:45296532 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2211C>T (p.Tyr737=) |
single nucleotide variant |
Gorlin syndrome [RCV002090454] |
Chr1:44827562 [GRCh38]
Chr1:45293234 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3358-14G>T |
single nucleotide variant |
Gorlin syndrome [RCV002076213] |
Chr1:44822683 [GRCh38]
Chr1:45288355 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3042G>C (p.Leu1014=) |
single nucleotide variant |
Gorlin syndrome [RCV002206431] |
Chr1:44826322 [GRCh38]
Chr1:45291994 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2058+11G>A |
single nucleotide variant |
Gorlin syndrome [RCV002170468] |
Chr1:44827832 [GRCh38]
Chr1:45293504 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2372-14C>T |
single nucleotide variant |
Gorlin syndrome [RCV002148312] |
Chr1:44827323 [GRCh38]
Chr1:45292995 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3358-11_3358-9dup |
duplication |
Gorlin syndrome [RCV002112237] |
Chr1:44822677..44822678 [GRCh38]
Chr1:45288349..45288350 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.741C>T (p.Tyr247=) |
single nucleotide variant |
Gorlin syndrome [RCV002207389] |
Chr1:44830920 [GRCh38]
Chr1:45296592 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3257+14G>A |
single nucleotide variant |
Gorlin syndrome [RCV002108752] |
Chr1:44823229 [GRCh38]
Chr1:45288901 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3114+8C>T |
single nucleotide variant |
Gorlin syndrome [RCV002165802] |
Chr1:44826242 [GRCh38]
Chr1:45291914 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1372-9C>T |
single nucleotide variant |
Gorlin syndrome [RCV002187367] |
Chr1:44829083 [GRCh38]
Chr1:45294755 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2371+18G>A |
single nucleotide variant |
Gorlin syndrome [RCV002134925] |
Chr1:44827384 [GRCh38]
Chr1:45293056 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2931C>T (p.Leu977=) |
single nucleotide variant |
Gorlin syndrome [RCV002166984] |
Chr1:44826533 [GRCh38]
Chr1:45292205 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.456-9C>T |
single nucleotide variant |
Gorlin syndrome [RCV002153030] |
Chr1:44832053 [GRCh38]
Chr1:45297725 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1709+19C>T |
single nucleotide variant |
Gorlin syndrome [RCV002129383] |
Chr1:44828277 [GRCh38]
Chr1:45293949 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.618-6C>T |
single nucleotide variant |
Gorlin syndrome [RCV002113429] |
Chr1:44831049 [GRCh38]
Chr1:45296721 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2673C>T (p.Asp891=) |
single nucleotide variant |
Gorlin syndrome [RCV002095022] |
Chr1:44826924 [GRCh38]
Chr1:45292596 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1591-12T>C |
single nucleotide variant |
Gorlin syndrome [RCV002111919] |
Chr1:44828426 [GRCh38]
Chr1:45294098 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3258-16C>G |
single nucleotide variant |
Gorlin syndrome [RCV002196981] |
Chr1:44823184 [GRCh38]
Chr1:45288856 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.450T>C (p.Tyr150=) |
single nucleotide variant |
Gorlin syndrome [RCV002088686] |
Chr1:44832157 [GRCh38]
Chr1:45297829 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.321G>A (p.Glu107=) |
single nucleotide variant |
Gorlin syndrome [RCV002169924]|PTCH2-related disorder [RCV004553655] |
Chr1:44832286 [GRCh38]
Chr1:45297958 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_003738.5(PTCH2):c.1161G>A (p.Leu387=) |
single nucleotide variant |
Gorlin syndrome [RCV002081104] |
Chr1:44829456 [GRCh38]
Chr1:45295128 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.617C>T (p.Pro206Leu) |
single nucleotide variant |
not provided [RCV002224847] |
Chr1:44831706 [GRCh38]
Chr1:45297378 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.73-10T>C |
single nucleotide variant |
Gorlin syndrome [RCV002109444] |
Chr1:44842049 [GRCh38]
Chr1:45307721 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2695+20C>T |
single nucleotide variant |
Gorlin syndrome [RCV002149302] |
Chr1:44826882 [GRCh38]
Chr1:45292554 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1367C>A (p.Thr456Asn) |
single nucleotide variant |
Gorlin syndrome [RCV002076362] |
Chr1:44829161 [GRCh38]
Chr1:45294833 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2592G>A (p.Val864=) |
single nucleotide variant |
Gorlin syndrome [RCV002115458] |
Chr1:44827005 [GRCh38]
Chr1:45292677 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1709+12G>A |
single nucleotide variant |
Gorlin syndrome [RCV002133884] |
Chr1:44828284 [GRCh38]
Chr1:45293956 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2640C>A (p.Pro880=) |
single nucleotide variant |
Gorlin syndrome [RCV002094632] |
Chr1:44826957 [GRCh38]
Chr1:45292629 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2811C>T (p.Ala937=) |
single nucleotide variant |
Gorlin syndrome [RCV002112384] |
Chr1:44826653 [GRCh38]
Chr1:45292325 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3357+16G>A |
single nucleotide variant |
Gorlin syndrome [RCV002180795] |
Chr1:44823053 [GRCh38]
Chr1:45288725 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2640C>T (p.Pro880=) |
single nucleotide variant |
Gorlin syndrome [RCV002101815] |
Chr1:44826957 [GRCh38]
Chr1:45292629 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.987C>T (p.Tyr329=) |
single nucleotide variant |
Gorlin syndrome [RCV002175795] |
Chr1:44829710 [GRCh38]
Chr1:45295382 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2199C>T (p.Tyr733=) |
single nucleotide variant |
Gorlin syndrome [RCV002102798] |
Chr1:44827574 [GRCh38]
Chr1:45293246 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1372-19C>T |
single nucleotide variant |
Gorlin syndrome [RCV002158738] |
Chr1:44829093 [GRCh38]
Chr1:45294765 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3114+14C>T |
single nucleotide variant |
Gorlin syndrome [RCV002158956] |
Chr1:44826236 [GRCh38]
Chr1:45291908 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.2695+11G>C |
single nucleotide variant |
Gorlin syndrome [RCV002202919] |
Chr1:44826891 [GRCh38]
Chr1:45292563 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.266-16_266-15del |
microsatellite |
Gorlin syndrome [RCV002157153] |
Chr1:44832356..44832357 [GRCh38]
Chr1:45298028..45298029 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.72+8G>A |
single nucleotide variant |
Gorlin syndrome [RCV002218291] |
Chr1:44842853 [GRCh38]
Chr1:45308525 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.933G>C (p.Leu311=) |
single nucleotide variant |
Gorlin syndrome [RCV002216450] |
Chr1:44829911 [GRCh38]
Chr1:45295583 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3456C>T (p.Ser1152=) |
single nucleotide variant |
Gorlin syndrome [RCV002101769] |
Chr1:44822571 [GRCh38]
Chr1:45288243 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1311G>A (p.Val437=) |
single nucleotide variant |
Gorlin syndrome [RCV002120068] |
Chr1:44829217 [GRCh38]
Chr1:45294889 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3114+9G>C |
single nucleotide variant |
Gorlin syndrome [RCV002176203] |
Chr1:44826241 [GRCh38]
Chr1:45291913 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2991G>A (p.Ala997=) |
single nucleotide variant |
Gorlin syndrome [RCV002219412]|PTCH2-related disorder [RCV004553689] |
Chr1:44826373 [GRCh38]
Chr1:45292045 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.231T>C (p.Ile77=) |
single nucleotide variant |
Gorlin syndrome [RCV002142241] |
Chr1:44841881 [GRCh38]
Chr1:45307553 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3357+15G>A |
single nucleotide variant |
Gorlin syndrome [RCV002164508] |
Chr1:44823054 [GRCh38]
Chr1:45288726 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.526-16G>A |
single nucleotide variant |
Gorlin syndrome [RCV002155421] |
Chr1:44831813 [GRCh38]
Chr1:45297485 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.132C>G (p.Leu44=) |
single nucleotide variant |
Gorlin syndrome [RCV002098121] |
Chr1:44841980 [GRCh38]
Chr1:45307652 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.525+19A>C |
single nucleotide variant |
Gorlin syndrome [RCV002198369] |
Chr1:44831956 [GRCh38]
Chr1:45297628 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.1216-5dup |
duplication |
Gorlin syndrome [RCV002137857] |
Chr1:44829316..44829317 [GRCh38]
Chr1:45294988..45294989 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.909C>T (p.Ala303=) |
single nucleotide variant |
Gorlin syndrome [RCV002181293] |
Chr1:44829935 [GRCh38]
Chr1:45295607 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1569G>T (p.Ala523=) |
single nucleotide variant |
Gorlin syndrome [RCV002204005] |
Chr1:44828527 [GRCh38]
Chr1:45294199 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2583C>T (p.Thr861=) |
single nucleotide variant |
Gorlin syndrome [RCV002155402] |
Chr1:44827014 [GRCh38]
Chr1:45292686 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1372-15C>T |
single nucleotide variant |
Gorlin syndrome [RCV002098387] |
Chr1:44829089 [GRCh38]
Chr1:45294761 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3257+13C>T |
single nucleotide variant |
Gorlin syndrome [RCV002220965] |
Chr1:44823230 [GRCh38]
Chr1:45288902 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3258-19C>A |
single nucleotide variant |
Gorlin syndrome [RCV002159934] |
Chr1:44823187 [GRCh38]
Chr1:45288859 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1110C>T (p.Asn370=) |
single nucleotide variant |
Gorlin syndrome [RCV002120227] |
Chr1:44829507 [GRCh38]
Chr1:45295179 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1041G>A (p.Gln347=) |
single nucleotide variant |
Gorlin syndrome [RCV002156769] |
Chr1:44829656 [GRCh38]
Chr1:45295328 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2700G>A (p.Pro900=) |
single nucleotide variant |
Gorlin syndrome [RCV002162571] |
Chr1:44826764 [GRCh38]
Chr1:45292436 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1233G>A (p.Val411=) |
single nucleotide variant |
Gorlin syndrome [RCV002219808] |
Chr1:44829295 [GRCh38]
Chr1:45294967 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NC_000001.10:g.(?_44257753)_(46663493_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003109481] |
Chr1:44257753..46663493 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2572A>G (p.Met858Val) |
single nucleotide variant |
Gorlin syndrome [RCV003110280] |
Chr1:44827025 [GRCh38]
Chr1:45292697 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1032_1035del (p.Ser344fs) |
deletion |
Gorlin syndrome [RCV003114105] |
Chr1:44829662..44829665 [GRCh38]
Chr1:45295334..45295337 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2695+11G>T |
single nucleotide variant |
Gorlin syndrome [RCV003115182] |
Chr1:44826891 [GRCh38]
Chr1:45292563 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3287C>T (p.Thr1096Met) |
single nucleotide variant |
Gorlin syndrome [RCV002254868] |
Chr1:44823139 [GRCh38]
Chr1:45288811 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3431G>A (p.Gly1144Glu) |
single nucleotide variant |
Gorlin syndrome [RCV002254874] |
Chr1:44822596 [GRCh38]
Chr1:45288268 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3 |
copy number gain |
See cases [RCV002246181] |
Chr1:44346001..46332161 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3358G>A (p.Val1120Met) |
single nucleotide variant |
not specified [RCV002269198] |
Chr1:44822669 [GRCh38]
Chr1:45288341 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3584C>T (p.Ser1195Phe) |
single nucleotide variant |
Breast carcinoma [RCV003233042]|Gorlin syndrome [RCV003502694] |
Chr1:44822443 [GRCh38]
Chr1:45288115 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1523A>G (p.Asn508Ser) |
single nucleotide variant |
Gorlin syndrome [RCV002300491] |
Chr1:44828573 [GRCh38]
Chr1:45294245 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.308A>C (p.Lys103Thr) |
single nucleotide variant |
Gorlin syndrome [RCV002304124] |
Chr1:44832299 [GRCh38]
Chr1:45297971 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.853G>C (p.Gly285Arg) |
single nucleotide variant |
Gorlin syndrome [RCV002304781] |
Chr1:44829991 [GRCh38]
Chr1:45295663 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2381C>G (p.Ala794Gly) |
single nucleotide variant |
Gorlin syndrome [RCV002299453] |
Chr1:44827300 [GRCh38]
Chr1:45292972 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.484A>G (p.Lys162Glu) |
single nucleotide variant |
Gorlin syndrome [RCV002301706] |
Chr1:44832016 [GRCh38]
Chr1:45297688 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3352C>T (p.Pro1118Ser) |
single nucleotide variant |
Gorlin syndrome [RCV002299958] |
Chr1:44823074 [GRCh38]
Chr1:45288746 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2651A>G (p.Glu884Gly) |
single nucleotide variant |
Gorlin syndrome [RCV002301292] |
Chr1:44826946 [GRCh38]
Chr1:45292618 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3311T>C (p.Leu1104Pro) |
single nucleotide variant |
not specified [RCV004139519] |
Chr1:44823115 [GRCh38]
Chr1:45288787 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1410C>T (p.Asp470=) |
single nucleotide variant |
Gorlin syndrome [RCV002995614]|PTCH2-related disorder [RCV004550339] |
Chr1:44829036 [GRCh38]
Chr1:45294708 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2605C>G (p.Leu869Val) |
single nucleotide variant |
Gorlin syndrome [RCV002967920] |
Chr1:44826992 [GRCh38]
Chr1:45292664 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.936-1G>A |
single nucleotide variant |
Gorlin syndrome [RCV002681779] |
Chr1:44829762 [GRCh38]
Chr1:45295434 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2893del (p.Leu965fs) |
deletion |
Gorlin syndrome [RCV002750378] |
Chr1:44826571 [GRCh38]
Chr1:45292243 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.586del (p.Ala196fs) |
deletion |
Gorlin syndrome [RCV002862501] |
Chr1:44831737 [GRCh38]
Chr1:45297409 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1464+10T>G |
single nucleotide variant |
Gorlin syndrome [RCV002881207] |
Chr1:44828972 [GRCh38]
Chr1:45294644 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2976+14G>A |
single nucleotide variant |
Gorlin syndrome [RCV003073686] |
Chr1:44826474 [GRCh38]
Chr1:45292146 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.395T>C (p.Leu132Pro) |
single nucleotide variant |
Gorlin syndrome [RCV002908225] |
Chr1:44832212 [GRCh38]
Chr1:45297884 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2019del (p.Tyr674fs) |
deletion |
Gorlin syndrome [RCV003074413] |
Chr1:44827882 [GRCh38]
Chr1:45293554 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.354C>A (p.Thr118=) |
single nucleotide variant |
Gorlin syndrome [RCV002948302] |
Chr1:44832253 [GRCh38]
Chr1:45297925 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.814-4C>A |
single nucleotide variant |
Gorlin syndrome [RCV003017552] |
Chr1:44830034 [GRCh38]
Chr1:45295706 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2542G>A (p.Glu848Lys) |
single nucleotide variant |
Gorlin syndrome [RCV003075166] |
Chr1:44827055 [GRCh38]
Chr1:45292727 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3339C>A (p.Ile1113=) |
single nucleotide variant |
Gorlin syndrome [RCV002996089]|PTCH2-related disorder [RCV004550343] |
Chr1:44823087 [GRCh38]
Chr1:45288759 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2107G>A (p.Gly703Arg) |
single nucleotide variant |
Gorlin syndrome [RCV002995666] |
Chr1:44827666 [GRCh38]
Chr1:45293338 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1543A>G (p.Met515Val) |
single nucleotide variant |
Gorlin syndrome [RCV003502686]|not specified [RCV004125184] |
Chr1:44828553 [GRCh38]
Chr1:45294225 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.749G>A (p.Arg250Gln) |
single nucleotide variant |
Gorlin syndrome [RCV003075702]|PTCH2-related disorder [RCV004550384]|not specified [RCV004071825] |
Chr1:44830912 [GRCh38]
Chr1:45296584 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2427G>A (p.Ser809=) |
single nucleotide variant |
Gorlin syndrome [RCV003075110] |
Chr1:44827254 [GRCh38]
Chr1:45292926 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3258-16del |
deletion |
Gorlin syndrome [RCV002815837] |
Chr1:44823184 [GRCh38]
Chr1:45288856 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.3524A>G (p.His1175Arg) |
single nucleotide variant |
Gorlin syndrome [RCV002904634] |
Chr1:44822503 [GRCh38]
Chr1:45288175 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1372-18G>A |
single nucleotide variant |
Gorlin syndrome [RCV002775448] |
Chr1:44829092 [GRCh38]
Chr1:45294764 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.732C>T (p.Gly244=) |
single nucleotide variant |
Gorlin syndrome [RCV003073552] |
Chr1:44830929 [GRCh38]
Chr1:45296601 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.2252A>T (p.His751Leu) |
single nucleotide variant |
Gorlin syndrome [RCV002615890] |
Chr1:44827521 [GRCh38]
Chr1:45293193 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1710-15C>G |
single nucleotide variant |
Gorlin syndrome [RCV002908689] |
Chr1:44828206 [GRCh38]
Chr1:45293878 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3147G>T (p.Leu1049=) |
single nucleotide variant |
Gorlin syndrome [RCV002756171] |
Chr1:44823353 [GRCh38]
Chr1:45289025 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2744G>A (p.Arg915His) |
single nucleotide variant |
Gorlin syndrome [RCV002726770] |
Chr1:44826720 [GRCh38]
Chr1:45292392 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1069C>T (p.Arg357Trp) |
single nucleotide variant |
not specified [RCV004238089] |
Chr1:44829628 [GRCh38]
Chr1:45295300 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.936-10C>T |
single nucleotide variant |
Gorlin syndrome [RCV002953045] |
Chr1:44829771 [GRCh38]
Chr1:45295443 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.748C>T (p.Arg250Trp) |
single nucleotide variant |
Gorlin syndrome [RCV002913876] |
Chr1:44830913 [GRCh38]
Chr1:45296585 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1348A>G (p.Thr450Ala) |
single nucleotide variant |
not specified [RCV004233419] |
Chr1:44829180 [GRCh38]
Chr1:45294852 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2841C>T (p.Ser947=) |
single nucleotide variant |
Gorlin syndrome [RCV002926956] |
Chr1:44826623 [GRCh38]
Chr1:45292295 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2479A>T (p.Thr827Ser) |
single nucleotide variant |
Gorlin syndrome [RCV003609254]|not specified [RCV004233445] |
Chr1:44827202 [GRCh38]
Chr1:45292874 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1072C>T (p.Arg358Cys) |
single nucleotide variant |
Gorlin syndrome [RCV003077950] |
Chr1:44829625 [GRCh38]
Chr1:45295297 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1468C>T (p.Arg490Cys) |
single nucleotide variant |
Gorlin syndrome [RCV003077203] |
Chr1:44828628 [GRCh38]
Chr1:45294300 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3088G>A (p.Val1030Ile) |
single nucleotide variant |
Gorlin syndrome [RCV002923451] |
Chr1:44826276 [GRCh38]
Chr1:45291948 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2711C>T (p.Pro904Leu) |
single nucleotide variant |
Gorlin syndrome [RCV003002845] |
Chr1:44826753 [GRCh38]
Chr1:45292425 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.345G>A (p.Leu115=) |
single nucleotide variant |
Gorlin syndrome [RCV002885929] |
Chr1:44832262 [GRCh38]
Chr1:45297934 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.814-18C>T |
single nucleotide variant |
Gorlin syndrome [RCV002885933] |
Chr1:44830048 [GRCh38]
Chr1:45295720 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1669C>T (p.Arg557Cys) |
single nucleotide variant |
Gorlin syndrome [RCV002909271] |
Chr1:44828336 [GRCh38]
Chr1:45294008 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3313G>A (p.Val1105Met) |
single nucleotide variant |
Gorlin syndrome [RCV002637715]|not specified [RCV004070790] |
Chr1:44823113 [GRCh38]
Chr1:45288785 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3151G>C (p.Ala1051Pro) |
single nucleotide variant |
not specified [RCV004172834] |
Chr1:44823349 [GRCh38]
Chr1:45289021 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1422G>A (p.Leu474=) |
single nucleotide variant |
Gorlin syndrome [RCV002886009] |
Chr1:44829024 [GRCh38]
Chr1:45294696 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3128C>T (p.Thr1043Ile) |
single nucleotide variant |
Gorlin syndrome [RCV002659228] |
Chr1:44823372 [GRCh38]
Chr1:45289044 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.456-1G>T |
single nucleotide variant |
Gorlin syndrome [RCV002948919] |
Chr1:44832045 [GRCh38]
Chr1:45297717 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1083+13A>G |
single nucleotide variant |
Gorlin syndrome [RCV002948599] |
Chr1:44829601 [GRCh38]
Chr1:45295273 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2217G>A (p.Val739=) |
single nucleotide variant |
Gorlin syndrome [RCV002619976] |
Chr1:44827556 [GRCh38]
Chr1:45293228 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2185G>T (p.Ala729Ser) |
single nucleotide variant |
Gorlin syndrome [RCV002620760] |
Chr1:44827588 [GRCh38]
Chr1:45293260 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2048C>T (p.Ser683Leu) |
single nucleotide variant |
Gorlin syndrome [RCV002637147] |
Chr1:44827853 [GRCh38]
Chr1:45293525 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1565C>T (p.Pro522Leu) |
single nucleotide variant |
Gorlin syndrome [RCV002761274] |
Chr1:44828531 [GRCh38]
Chr1:45294203 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2483G>A (p.Gly828Glu) |
single nucleotide variant |
not specified [RCV004233399] |
Chr1:44827198 [GRCh38]
Chr1:45292870 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.287A>T (p.Glu96Val) |
single nucleotide variant |
Gorlin syndrome [RCV002949569] |
Chr1:44832320 [GRCh38]
Chr1:45297992 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.554T>C (p.Ile185Thr) |
single nucleotide variant |
Gorlin syndrome [RCV002694915] |
Chr1:44831769 [GRCh38]
Chr1:45297441 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1534G>A (p.Ala512Thr) |
single nucleotide variant |
not specified [RCV004233411] |
Chr1:44828562 [GRCh38]
Chr1:45294234 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2976+1G>A |
single nucleotide variant |
Gorlin syndrome [RCV002619617] |
Chr1:44826487 [GRCh38]
Chr1:45292159 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.427A>C (p.Ser143Arg) |
single nucleotide variant |
not specified [RCV004227022] |
Chr1:44832180 [GRCh38]
Chr1:45297852 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.957C>T (p.Thr319=) |
single nucleotide variant |
Gorlin syndrome [RCV003077621] |
Chr1:44829740 [GRCh38]
Chr1:45295412 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3161C>A (p.Ala1054Asp) |
single nucleotide variant |
Gorlin syndrome [RCV002622114] |
Chr1:44823339 [GRCh38]
Chr1:45289011 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.172G>C (p.Val58Leu) |
single nucleotide variant |
Gorlin syndrome [RCV003078321] |
Chr1:44841940 [GRCh38]
Chr1:45307612 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1167G>A (p.Ala389=) |
single nucleotide variant |
Gorlin syndrome [RCV002926766] |
Chr1:44829450 [GRCh38]
Chr1:45295122 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.387C>G (p.Pro129=) |
single nucleotide variant |
Gorlin syndrome [RCV002866417]|not provided [RCV003409941] |
Chr1:44832220 [GRCh38]
Chr1:45297892 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3251T>C (p.Ile1084Thr) |
single nucleotide variant |
not specified [RCV004153794] |
Chr1:44823249 [GRCh38]
Chr1:45288921 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3583T>A (p.Ser1195Thr) |
single nucleotide variant |
not specified [RCV004233421] |
Chr1:44822444 [GRCh38]
Chr1:45288116 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1932C>A (p.Asp644Glu) |
single nucleotide variant |
Gorlin syndrome [RCV003001834] |
Chr1:44827969 [GRCh38]
Chr1:45293641 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.944C>T (p.Ala315Val) |
single nucleotide variant |
Gorlin syndrome [RCV003079466] |
Chr1:44829753 [GRCh38]
Chr1:45295425 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1216-7C>T |
single nucleotide variant |
Gorlin syndrome [RCV003080623] |
Chr1:44829319 [GRCh38]
Chr1:45294991 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1725G>A (p.Gln575=) |
single nucleotide variant |
Gorlin syndrome [RCV002591476] |
Chr1:44828176 [GRCh38]
Chr1:45293848 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2695+11G>A |
single nucleotide variant |
Gorlin syndrome [RCV003002757] |
Chr1:44826891 [GRCh38]
Chr1:45292563 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.204C>T (p.Ala68=) |
single nucleotide variant |
Gorlin syndrome [RCV002885297] |
Chr1:44841908 [GRCh38]
Chr1:45307580 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1007A>G (p.Tyr336Cys) |
single nucleotide variant |
Gorlin syndrome [RCV003055168] |
Chr1:44829690 [GRCh38]
Chr1:45295362 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1117C>T (p.Gln373Ter) |
single nucleotide variant |
Gorlin syndrome [RCV002999098] |
Chr1:44829500 [GRCh38]
Chr1:45295172 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2514+14T>C |
single nucleotide variant |
Gorlin syndrome [RCV002957840] |
Chr1:44827153 [GRCh38]
Chr1:45292825 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.313G>A (p.Gly105Arg) |
single nucleotide variant |
Gorlin syndrome [RCV002645690] |
Chr1:44832294 [GRCh38]
Chr1:45297966 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.839G>C (p.Ser280Thr) |
single nucleotide variant |
Gorlin syndrome [RCV002933391] |
Chr1:44830005 [GRCh38]
Chr1:45295677 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1401C>T (p.Gly467=) |
single nucleotide variant |
Gorlin syndrome [RCV002645757] |
Chr1:44829045 [GRCh38]
Chr1:45294717 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2671G>A (p.Asp891Asn) |
single nucleotide variant |
Gorlin syndrome [RCV002627311] |
Chr1:44826926 [GRCh38]
Chr1:45292598 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1297G>A (p.Val433Met) |
single nucleotide variant |
Gorlin syndrome [RCV002627146] |
Chr1:44829231 [GRCh38]
Chr1:45294903 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1566T>C (p.Pro522=) |
single nucleotide variant |
Gorlin syndrome [RCV003083894] |
Chr1:44828530 [GRCh38]
Chr1:45294202 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2699C>T (p.Pro900Leu) |
single nucleotide variant |
Gorlin syndrome [RCV002595965] |
Chr1:44826765 [GRCh38]
Chr1:45292437 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.619G>T (p.Gly207Cys) |
single nucleotide variant |
Gorlin syndrome [RCV002627147] |
Chr1:44831042 [GRCh38]
Chr1:45296714 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1496G>A (p.Gly499Asp) |
single nucleotide variant |
Gorlin syndrome [RCV002829213] |
Chr1:44828600 [GRCh38]
Chr1:45294272 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3477C>T (p.Ser1159=) |
single nucleotide variant |
Gorlin syndrome [RCV002982339] |
Chr1:44822550 [GRCh38]
Chr1:45288222 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.274C>T (p.Arg92Trp) |
single nucleotide variant |
Gorlin syndrome [RCV003609253]|not specified [RCV004150980] |
Chr1:44832333 [GRCh38]
Chr1:45298005 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1527C>T (p.Asn509=) |
single nucleotide variant |
Gorlin syndrome [RCV002982211] |
Chr1:44828569 [GRCh38]
Chr1:45294241 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3246C>T (p.Asp1082=) |
single nucleotide variant |
Gorlin syndrome [RCV002765449] |
Chr1:44823254 [GRCh38]
Chr1:45288926 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1591-15C>T |
single nucleotide variant |
Gorlin syndrome [RCV003083952] |
Chr1:44828429 [GRCh38]
Chr1:45294101 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.969G>A (p.Met323Ile) |
single nucleotide variant |
Gorlin syndrome [RCV003058771] |
Chr1:44829728 [GRCh38]
Chr1:45295400 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1231G>A (p.Val411Met) |
single nucleotide variant |
not specified [RCV004176670] |
Chr1:44829297 [GRCh38]
Chr1:45294969 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3272C>A (p.Ala1091Glu) |
single nucleotide variant |
Gorlin syndrome [RCV002597046] |
Chr1:44823154 [GRCh38]
Chr1:45288826 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.525+6T>C |
single nucleotide variant |
Gorlin syndrome [RCV002624563] |
Chr1:44831969 [GRCh38]
Chr1:45297641 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1398C>T (p.Ile466=) |
single nucleotide variant |
Gorlin syndrome [RCV002595074] |
Chr1:44829048 [GRCh38]
Chr1:45294720 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2374A>C (p.Ile792Leu) |
single nucleotide variant |
not specified [RCV004156552] |
Chr1:44827307 [GRCh38]
Chr1:45292979 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.526-17C>T |
single nucleotide variant |
Gorlin syndrome [RCV002596290] |
Chr1:44831814 [GRCh38]
Chr1:45297486 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.497C>T (p.Pro166Leu) |
single nucleotide variant |
Gorlin syndrome [RCV002786564] |
Chr1:44832003 [GRCh38]
Chr1:45297675 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2208G>A (p.Leu736=) |
single nucleotide variant |
Gorlin syndrome [RCV002573831]|PTCH2-related disorder [RCV004548315] |
Chr1:44827565 [GRCh38]
Chr1:45293237 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1652G>T (p.Ser551Ile) |
single nucleotide variant |
Gorlin syndrome [RCV002982895] |
Chr1:44828353 [GRCh38]
Chr1:45294025 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2376C>T (p.Ile792=) |
single nucleotide variant |
Gorlin syndrome [RCV002624283] |
Chr1:44827305 [GRCh38]
Chr1:45292977 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2802C>T (p.Cys934=) |
single nucleotide variant |
Gorlin syndrome [RCV002918929] |
Chr1:44826662 [GRCh38]
Chr1:45292334 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.253C>T (p.Leu85Phe) |
single nucleotide variant |
Gorlin syndrome [RCV002643854] |
Chr1:44841859 [GRCh38]
Chr1:45307531 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2627C>G (p.Ala876Gly) |
single nucleotide variant |
not specified [RCV004217586] |
Chr1:44826970 [GRCh38]
Chr1:45292642 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2312C>A (p.Pro771His) |
single nucleotide variant |
Gorlin syndrome [RCV002633012] |
Chr1:44827461 [GRCh38]
Chr1:45293133 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.777C>T (p.His259=) |
single nucleotide variant |
Gorlin syndrome [RCV002601705] |
Chr1:44830884 [GRCh38]
Chr1:45296556 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.400C>T (p.Leu134Phe) |
single nucleotide variant |
Gorlin syndrome [RCV003089670] |
Chr1:44832207 [GRCh38]
Chr1:45297879 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.101T>C (p.Leu34Pro) |
single nucleotide variant |
Gorlin syndrome [RCV002966580] |
Chr1:44842011 [GRCh38]
Chr1:45307683 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1568dup (p.Leu524fs) |
duplication |
Gorlin syndrome [RCV002632567] |
Chr1:44828527..44828528 [GRCh38]
Chr1:45294199..45294200 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.563C>G (p.Pro188Arg) |
single nucleotide variant |
Gorlin syndrome [RCV002651600]|not specified [RCV004072137] |
Chr1:44831760 [GRCh38]
Chr1:45297432 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3468G>A (p.Val1156=) |
single nucleotide variant |
Gorlin syndrome [RCV003061229] |
Chr1:44822559 [GRCh38]
Chr1:45288231 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3106G>A (p.Val1036Met) |
single nucleotide variant |
Gorlin syndrome [RCV002921983]|not specified [RCV004066286] |
Chr1:44826258 [GRCh38]
Chr1:45291930 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_003738.5(PTCH2):c.2510_2511delinsTT (p.Ser837Ile) |
indel |
Gorlin syndrome [RCV002922490] |
Chr1:44827170..44827171 [GRCh38]
Chr1:45292842..45292843 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.621C>T (p.Gly207=) |
single nucleotide variant |
Gorlin syndrome [RCV002600630] |
Chr1:44831040 [GRCh38]
Chr1:45296712 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3258-17C>G |
single nucleotide variant |
Gorlin syndrome [RCV002647871] |
Chr1:44823185 [GRCh38]
Chr1:45288857 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2263G>C (p.Ala755Pro) |
single nucleotide variant |
Gorlin syndrome [RCV003011152]|PTCH2-related disorder [RCV004550342] |
Chr1:44827510 [GRCh38]
Chr1:45293182 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3382C>T (p.Pro1128Ser) |
single nucleotide variant |
Gorlin syndrome [RCV003087994] |
Chr1:44822645 [GRCh38]
Chr1:45288317 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.335C>T (p.Ser112Phe) |
single nucleotide variant |
Gorlin syndrome [RCV002895759] |
Chr1:44832272 [GRCh38]
Chr1:45297944 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3590del (p.Gly1197fs) |
deletion |
Gorlin syndrome [RCV003088103]|not provided [RCV003487289] |
Chr1:44822437 [GRCh38]
Chr1:45288109 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1753G>C (p.Gly585Arg) |
single nucleotide variant |
Gorlin syndrome [RCV003065043] |
Chr1:44828148 [GRCh38]
Chr1:45293820 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3257+15G>A |
single nucleotide variant |
Gorlin syndrome [RCV002631849] |
Chr1:44823228 [GRCh38]
Chr1:45288900 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2642C>G (p.Pro881Arg) |
single nucleotide variant |
Gorlin syndrome [RCV003009832] |
Chr1:44826955 [GRCh38]
Chr1:45292627 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1309G>A (p.Val437Met) |
single nucleotide variant |
Gorlin syndrome [RCV002629328] |
Chr1:44829219 [GRCh38]
Chr1:45294891 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.250C>G (p.Gln84Glu) |
single nucleotide variant |
Gorlin syndrome [RCV003090407] |
Chr1:44841862 [GRCh38]
Chr1:45307534 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2553dup (p.Pro852fs) |
duplication |
Gorlin syndrome [RCV003061412] |
Chr1:44827043..44827044 [GRCh38]
Chr1:45292715..45292716 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2148G>A (p.Val716=) |
single nucleotide variant |
Gorlin syndrome [RCV002899770] |
Chr1:44827625 [GRCh38]
Chr1:45293297 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.991C>T (p.His331Tyr) |
single nucleotide variant |
Gorlin syndrome [RCV002632708]|not specified [RCV004070592] |
Chr1:44829706 [GRCh38]
Chr1:45295378 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3329T>C (p.Leu1110Pro) |
single nucleotide variant |
Gorlin syndrome [RCV002632491] |
Chr1:44823097 [GRCh38]
Chr1:45288769 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.200G>C (p.Gly67Ala) |
single nucleotide variant |
Gorlin syndrome [RCV002629597] |
Chr1:44841912 [GRCh38]
Chr1:45307584 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2177T>C (p.Phe726Ser) |
single nucleotide variant |
Gorlin syndrome [RCV003044237] |
Chr1:44827596 [GRCh38]
Chr1:45293268 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.359G>A (p.Arg120His) |
single nucleotide variant |
Gorlin syndrome [RCV002895765] |
Chr1:44832248 [GRCh38]
Chr1:45297920 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1622C>T (p.Ala541Val) |
single nucleotide variant |
Gorlin syndrome [RCV002654701] |
Chr1:44828383 [GRCh38]
Chr1:45294055 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1372-1G>T |
single nucleotide variant |
Gorlin syndrome [RCV002633581] |
Chr1:44829075 [GRCh38]
Chr1:45294747 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1465-1G>A |
single nucleotide variant |
Gorlin syndrome [RCV003093022] |
Chr1:44828632 [GRCh38]
Chr1:45294304 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1761G>T (p.Gly587=) |
single nucleotide variant |
Gorlin syndrome [RCV002633367] |
Chr1:44828140 [GRCh38]
Chr1:45293812 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1254C>T (p.Cys418=) |
single nucleotide variant |
Gorlin syndrome [RCV002944292]|not provided [RCV003410008] |
Chr1:44829274 [GRCh38]
Chr1:45294946 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2488G>A (p.Ala830Thr) |
single nucleotide variant |
Gorlin syndrome [RCV002653326] |
Chr1:44827193 [GRCh38]
Chr1:45292865 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3115-14C>T |
single nucleotide variant |
Gorlin syndrome [RCV002635773] |
Chr1:44823399 [GRCh38]
Chr1:45289071 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1685_1709+14dup |
duplication |
Gorlin syndrome [RCV002655033] |
Chr1:44828281..44828282 [GRCh38]
Chr1:45293953..45293954 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2695+10G>A |
single nucleotide variant |
Gorlin syndrome [RCV003071457] |
Chr1:44826892 [GRCh38]
Chr1:45292564 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.873G>T (p.Met291Ile) |
single nucleotide variant |
Gorlin syndrome [RCV003069242]|not specified [RCV004071768] |
Chr1:44829971 [GRCh38]
Chr1:45295643 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1795A>G (p.Thr599Ala) |
single nucleotide variant |
Gorlin syndrome [RCV002583217] |
Chr1:44828106 [GRCh38]
Chr1:45293778 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.202G>A (p.Ala68Thr) |
single nucleotide variant |
Gorlin syndrome [RCV002610474] |
Chr1:44841910 [GRCh38]
Chr1:45307582 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3601G>C (p.Ala1201Pro) |
single nucleotide variant |
Gorlin syndrome [RCV002634941]|PTCH2-related disorder [RCV004548340] |
Chr1:44822426 [GRCh38]
Chr1:45288098 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1424C>A (p.Ala475Glu) |
single nucleotide variant |
Gorlin syndrome [RCV002943358] |
Chr1:44829022 [GRCh38]
Chr1:45294694 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1590+11T>G |
single nucleotide variant |
Gorlin syndrome [RCV003073384] |
Chr1:44828495 [GRCh38]
Chr1:45294167 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1940G>A (p.Gly647Asp) |
single nucleotide variant |
Gorlin syndrome [RCV002588311] |
Chr1:44827961 [GRCh38]
Chr1:45293633 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1210C>T (p.Leu404Phe) |
single nucleotide variant |
Gorlin syndrome [RCV003066515] |
Chr1:44829407 [GRCh38]
Chr1:45295079 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1308G>A (p.Ala436=) |
single nucleotide variant |
Gorlin syndrome [RCV002585142] |
Chr1:44829220 [GRCh38]
Chr1:45294892 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.104G>C (p.Trp35Ser) |
single nucleotide variant |
Gorlin syndrome [RCV002611374] |
Chr1:44842008 [GRCh38]
Chr1:45307680 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1763C>T (p.Thr588Ile) |
single nucleotide variant |
Gorlin syndrome [RCV002611500] |
Chr1:44828138 [GRCh38]
Chr1:45293810 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3153C>T (p.Ala1051=) |
single nucleotide variant |
Gorlin syndrome [RCV003072712]|not provided [RCV003410073] |
Chr1:44823347 [GRCh38]
Chr1:45289019 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1709+10G>A |
single nucleotide variant |
Gorlin syndrome [RCV002589988] |
Chr1:44828286 [GRCh38]
Chr1:45293958 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2416A>G (p.Thr806Ala) |
single nucleotide variant |
Gorlin syndrome [RCV003154573] |
Chr1:44827265 [GRCh38]
Chr1:45292937 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3160G>T (p.Ala1054Ser) |
single nucleotide variant |
not specified [RCV004274588] |
Chr1:44823340 [GRCh38]
Chr1:45289012 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2110G>A (p.Ala704Thr) |
single nucleotide variant |
not specified [RCV004271118] |
Chr1:44827663 [GRCh38]
Chr1:45293335 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.515T>C (p.Met172Thr) |
single nucleotide variant |
Gorlin syndrome [RCV003325278] |
Chr1:44831985 [GRCh38]
Chr1:45297657 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1302_1305delinsACCA (p.Leu435Pro) |
indel |
Basal cell carcinoma, susceptibility to, 1 [RCV003992761]|Gorlin syndrome [RCV003322681] |
Chr1:44829223..44829226 [GRCh38]
Chr1:45294895..45294898 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_003738.5(PTCH2):c.3430G>A (p.Gly1144Arg) |
single nucleotide variant |
Gorlin syndrome [RCV003325289] |
Chr1:44822597 [GRCh38]
Chr1:45288269 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1564C>G (p.Pro522Ala) |
single nucleotide variant |
not specified [RCV004356444] |
Chr1:44828532 [GRCh38]
Chr1:45294204 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2171A>G (p.His724Arg) |
single nucleotide variant |
not specified [RCV004351408] |
Chr1:44827602 [GRCh38]
Chr1:45293274 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1014A>G (p.Thr338=) |
single nucleotide variant |
Gorlin syndrome [RCV003503225] |
Chr1:44829683 [GRCh38]
Chr1:45295355 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1464+14C>T |
single nucleotide variant |
Gorlin syndrome [RCV003503282] |
Chr1:44828968 [GRCh38]
Chr1:45294640 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2695+9del |
deletion |
Gorlin syndrome [RCV003504075] |
Chr1:44826893 [GRCh38]
Chr1:45292565 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1371+19del |
deletion |
Gorlin syndrome [RCV003875791] |
Chr1:44829138 [GRCh38]
Chr1:45294810 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1181G>A (p.Ser394Asn) |
single nucleotide variant |
Gorlin syndrome [RCV003504137] |
Chr1:44829436 [GRCh38]
Chr1:45295108 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.815C>T (p.Ala272Val) |
single nucleotide variant |
Gorlin syndrome [RCV003503592] |
Chr1:44830029 [GRCh38]
Chr1:45295701 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1709+12G>C |
single nucleotide variant |
Gorlin syndrome [RCV003504016] |
Chr1:44828284 [GRCh38]
Chr1:45293956 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2877C>A (p.Gly959=) |
single nucleotide variant |
Gorlin syndrome [RCV003503714] |
Chr1:44826587 [GRCh38]
Chr1:45292259 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3373A>G (p.Lys1125Glu) |
single nucleotide variant |
Gorlin syndrome [RCV003503812] |
Chr1:44822654 [GRCh38]
Chr1:45288326 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.215G>A (p.Gly72Asp) |
single nucleotide variant |
Gorlin syndrome [RCV003503935] |
Chr1:44841897 [GRCh38]
Chr1:45307569 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.680C>T (p.Pro227Leu) |
single nucleotide variant |
Gorlin syndrome [RCV003503778] |
Chr1:44830981 [GRCh38]
Chr1:45296653 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1292T>C (p.Leu431Pro) |
single nucleotide variant |
Gorlin syndrome [RCV003503768] |
Chr1:44829236 [GRCh38]
Chr1:45294908 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1716del (p.Ser573fs) |
deletion |
Gorlin syndrome [RCV003503632] |
Chr1:44828185 [GRCh38]
Chr1:45293857 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2366T>C (p.Leu789Pro) |
single nucleotide variant |
Gorlin syndrome [RCV003504174] |
Chr1:44827407 [GRCh38]
Chr1:45293079 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.976C>T (p.Arg326Cys) |
single nucleotide variant |
Gorlin syndrome [RCV003504136] |
Chr1:44829721 [GRCh38]
Chr1:45295393 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.455+16C>A |
single nucleotide variant |
Gorlin syndrome [RCV003504138] |
Chr1:44832136 [GRCh38]
Chr1:45297808 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3041T>A (p.Leu1014Gln) |
single nucleotide variant |
Gorlin syndrome [RCV003504141] |
Chr1:44826323 [GRCh38]
Chr1:45291995 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3010T>C (p.Phe1004Leu) |
single nucleotide variant |
Gorlin syndrome [RCV003503816] |
Chr1:44826354 [GRCh38]
Chr1:45292026 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1275G>T (p.Val425=) |
single nucleotide variant |
Gorlin syndrome [RCV003504408] |
Chr1:44829253 [GRCh38]
Chr1:45294925 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1127A>G (p.His376Arg) |
single nucleotide variant |
Gorlin syndrome [RCV003504347] |
Chr1:44829490 [GRCh38]
Chr1:45295162 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1761G>A (p.Gly587=) |
single nucleotide variant |
Gorlin syndrome [RCV003504436] |
Chr1:44828140 [GRCh38]
Chr1:45293812 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1341C>A (p.Leu447=) |
single nucleotide variant |
Gorlin syndrome [RCV003503931] |
Chr1:44829187 [GRCh38]
Chr1:45294859 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3114+17C>T |
single nucleotide variant |
Gorlin syndrome [RCV003503855] |
Chr1:44826233 [GRCh38]
Chr1:45291905 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2426C>T (p.Ser809Leu) |
single nucleotide variant |
Gorlin syndrome [RCV003503927] |
Chr1:44827255 [GRCh38]
Chr1:45292927 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1928G>A (p.Arg643Gln) |
single nucleotide variant |
Gorlin syndrome [RCV003503941] |
Chr1:44827973 [GRCh38]
Chr1:45293645 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2695+8T>G |
single nucleotide variant |
Gorlin syndrome [RCV003504076] |
Chr1:44826894 [GRCh38]
Chr1:45292566 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2584G>C (p.Val862Leu) |
single nucleotide variant |
Gorlin syndrome [RCV003504125] |
Chr1:44827013 [GRCh38]
Chr1:45292685 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.455+16C>T |
single nucleotide variant |
Gorlin syndrome [RCV003504163] |
Chr1:44832136 [GRCh38]
Chr1:45297808 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.220C>T (p.Arg74Cys) |
single nucleotide variant |
Gorlin syndrome [RCV003504157] |
Chr1:44841892 [GRCh38]
Chr1:45307564 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.564C>T (p.Pro188=) |
single nucleotide variant |
Gorlin syndrome [RCV003504151] |
Chr1:44831759 [GRCh38]
Chr1:45297431 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1524del (p.Asn508fs) |
deletion |
Gorlin syndrome [RCV003504209] |
Chr1:44828572 [GRCh38]
Chr1:45294244 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1591-8T>A |
single nucleotide variant |
Gorlin syndrome [RCV003504499] |
Chr1:44828422 [GRCh38]
Chr1:45294094 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1335C>A (p.Ala445=) |
single nucleotide variant |
Gorlin syndrome [RCV003504193] |
Chr1:44829193 [GRCh38]
Chr1:45294865 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2696-9C>T |
single nucleotide variant |
Gorlin syndrome [RCV003504259] |
Chr1:44826777 [GRCh38]
Chr1:45292449 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2336G>C (p.Arg779Pro) |
single nucleotide variant |
Gorlin syndrome [RCV003502953] |
Chr1:44827437 [GRCh38]
Chr1:45293109 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1371+13T>G |
single nucleotide variant |
Gorlin syndrome [RCV003502959] |
Chr1:44829144 [GRCh38]
Chr1:45294816 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2642C>T (p.Pro881Leu) |
single nucleotide variant |
Gorlin syndrome [RCV003502910] |
Chr1:44826955 [GRCh38]
Chr1:45292627 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.936-17T>C |
single nucleotide variant |
Gorlin syndrome [RCV003503043] |
Chr1:44829778 [GRCh38]
Chr1:45295450 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.565del (p.Leu189fs) |
deletion |
Gorlin syndrome [RCV003503397] |
Chr1:44831758 [GRCh38]
Chr1:45297430 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2055_2056delinsCG (p.Lys686Glu) |
indel |
Gorlin syndrome [RCV003502955] |
Chr1:44827845..44827846 [GRCh38]
Chr1:45293517..45293518 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2977-2A>G |
single nucleotide variant |
Gorlin syndrome [RCV003503712] |
Chr1:44826389 [GRCh38]
Chr1:45292061 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1591-5C>A |
single nucleotide variant |
Gorlin syndrome [RCV003503114] |
Chr1:44828419 [GRCh38]
Chr1:45294091 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2845_2846delinsAA (p.Ser949Asn) |
indel |
Gorlin syndrome [RCV003503899] |
Chr1:44826618..44826619 [GRCh38]
Chr1:45292290..45292291 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3238C>G (p.His1080Asp) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV003471749] |
Chr1:44823262 [GRCh38]
Chr1:45288934 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| Single allele |
inversion |
Bilateral polymicrogyria [RCV003459046] |
Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3 |
likely pathogenic |
| NM_003738.5(PTCH2):c.1614C>T (p.Thr538=) |
single nucleotide variant |
not provided [RCV003406457] |
Chr1:44828391 [GRCh38]
Chr1:45294063 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2206C>T (p.Leu736=) |
single nucleotide variant |
Gorlin syndrome [RCV003778367]|not provided [RCV003406456] |
Chr1:44827567 [GRCh38]
Chr1:45293239 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2639C>A (p.Pro880His) |
single nucleotide variant |
PTCH2-related disorder [RCV004552587] |
Chr1:44826958 [GRCh38]
Chr1:45292630 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3182C>T (p.Pro1061Leu) |
single nucleotide variant |
Gorlin syndrome [RCV003609292]|PTCH2-related disorder [RCV004552628] |
Chr1:44823318 [GRCh38]
Chr1:45288990 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_001166292.2(PTCH2):c.3425+728T>C |
single nucleotide variant |
not provided [RCV003406455] |
Chr1:44821874 [GRCh38]
Chr1:45287546 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.435C>T (p.Val145=) |
single nucleotide variant |
not provided [RCV003406458] |
Chr1:44832172 [GRCh38]
Chr1:45297844 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2842G>A (p.Gly948Ser) |
single nucleotide variant |
Gorlin syndrome [RCV003609293]|PTCH2-related disorder [RCV004554112] |
Chr1:44826622 [GRCh38]
Chr1:45292294 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3473C>T (p.Thr1158Ile) |
single nucleotide variant |
Gorlin syndrome [RCV003609777] |
Chr1:44822554 [GRCh38]
Chr1:45288226 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1402G>A (p.Val468Met) |
single nucleotide variant |
Gorlin syndrome [RCV003609941] |
Chr1:44829044 [GRCh38]
Chr1:45294716 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.813+17del |
deletion |
Gorlin syndrome [RCV003610324] |
Chr1:44830831 [GRCh38]
Chr1:45296503 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3273G>A (p.Ala1091=) |
single nucleotide variant |
Gorlin syndrome [RCV003608714] |
Chr1:44823153 [GRCh38]
Chr1:45288825 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.88C>G (p.Leu30Val) |
single nucleotide variant |
Gorlin syndrome [RCV003609708] |
Chr1:44842024 [GRCh38]
Chr1:45307696 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3596G>A (p.Gly1199Asp) |
single nucleotide variant |
Gorlin syndrome [RCV003609946] |
Chr1:44822431 [GRCh38]
Chr1:45288103 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2849C>T (p.Pro950Leu) |
single nucleotide variant |
Gorlin syndrome [RCV003609952] |
Chr1:44826615 [GRCh38]
Chr1:45292287 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1709+11C>T |
single nucleotide variant |
Gorlin syndrome [RCV003828260] |
Chr1:44828285 [GRCh38]
Chr1:45293957 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_003738.5(PTCH2):c.406C>T (p.Leu136Phe) |
single nucleotide variant |
Gorlin syndrome [RCV003608886] |
Chr1:44832201 [GRCh38]
Chr1:45297873 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1189C>T (p.Arg397Cys) |
single nucleotide variant |
Gorlin syndrome [RCV003609967] |
Chr1:44829428 [GRCh38]
Chr1:45295100 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3403del (p.Ala1135fs) |
deletion |
Gorlin syndrome [RCV003609970] |
Chr1:44822624 [GRCh38]
Chr1:45288296 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1670G>A (p.Arg557His) |
single nucleotide variant |
Gorlin syndrome [RCV003609715] |
Chr1:44828335 [GRCh38]
Chr1:45294007 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2788G>A (p.Ala930Thr) |
single nucleotide variant |
Gorlin syndrome [RCV003609862] |
Chr1:44826676 [GRCh38]
Chr1:45292348 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.195C>T (p.Ala65=) |
single nucleotide variant |
Gorlin syndrome [RCV003848933] |
Chr1:44841917 [GRCh38]
Chr1:45307589 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.940G>C (p.Glu314Gln) |
single nucleotide variant |
Gorlin syndrome [RCV003609939] |
Chr1:44829757 [GRCh38]
Chr1:45295429 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2514+12G>C |
single nucleotide variant |
Gorlin syndrome [RCV003610122] |
Chr1:44827155 [GRCh38]
Chr1:45292827 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2335C>T (p.Arg779Cys) |
single nucleotide variant |
Gorlin syndrome [RCV003609086] |
Chr1:44827438 [GRCh38]
Chr1:45293110 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1512C>G (p.Leu504=) |
single nucleotide variant |
Gorlin syndrome [RCV003609595] |
Chr1:44828584 [GRCh38]
Chr1:45294256 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3140G>A (p.Arg1047Gln) |
single nucleotide variant |
Gorlin syndrome [RCV003609664] |
Chr1:44823360 [GRCh38]
Chr1:45289032 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1710-16T>A |
single nucleotide variant |
Gorlin syndrome [RCV003609971] |
Chr1:44828207 [GRCh38]
Chr1:45293879 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1464+16C>T |
single nucleotide variant |
Gorlin syndrome [RCV003609972] |
Chr1:44828966 [GRCh38]
Chr1:45294638 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2312C>T (p.Pro771Leu) |
single nucleotide variant |
Gorlin syndrome [RCV003610098] |
Chr1:44827461 [GRCh38]
Chr1:45293133 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2854C>G (p.Leu952Val) |
single nucleotide variant |
Gorlin syndrome [RCV003610116] |
Chr1:44826610 [GRCh38]
Chr1:45292282 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3294G>A (p.Leu1098=) |
single nucleotide variant |
Gorlin syndrome [RCV003610121] |
Chr1:44823132 [GRCh38]
Chr1:45288804 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3258-6_3258-5insTAGTA |
insertion |
Gorlin syndrome [RCV003608921] |
Chr1:44823173..44823174 [GRCh38]
Chr1:45288845..45288846 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.936-18C>T |
single nucleotide variant |
Gorlin syndrome [RCV003608960] |
Chr1:44829779 [GRCh38]
Chr1:45295451 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2908A>G (p.Ile970Val) |
single nucleotide variant |
Gorlin syndrome [RCV003609780] |
Chr1:44826556 [GRCh38]
Chr1:45292228 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.549C>T (p.Cys183=) |
single nucleotide variant |
Gorlin syndrome [RCV003610130] |
Chr1:44831774 [GRCh38]
Chr1:45297446 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.354C>T (p.Thr118=) |
single nucleotide variant |
Gorlin syndrome [RCV003609329]|PTCH2-related disorder [RCV004554268] |
Chr1:44832253 [GRCh38]
Chr1:45297925 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1191T>A (p.Arg397=) |
single nucleotide variant |
Gorlin syndrome [RCV003609373] |
Chr1:44829426 [GRCh38]
Chr1:45295098 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1531G>A (p.Ala511Thr) |
single nucleotide variant |
Gorlin syndrome [RCV003609825] |
Chr1:44828565 [GRCh38]
Chr1:45294237 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3357+15G>C |
single nucleotide variant |
Gorlin syndrome [RCV003610016] |
Chr1:44823054 [GRCh38]
Chr1:45288726 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2696-13C>T |
single nucleotide variant |
Gorlin syndrome [RCV003610021] |
Chr1:44826781 [GRCh38]
Chr1:45292453 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1927C>T (p.Arg643Trp) |
single nucleotide variant |
Gorlin syndrome [RCV003610029] |
Chr1:44827974 [GRCh38]
Chr1:45293646 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2969G>A (p.Gly990Asp) |
single nucleotide variant |
Gorlin syndrome [RCV003610143] |
Chr1:44826495 [GRCh38]
Chr1:45292167 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3114+20G>A |
single nucleotide variant |
Gorlin syndrome [RCV003609875] |
Chr1:44826230 [GRCh38]
Chr1:45291902 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.375C>T (p.Asn125=) |
single nucleotide variant |
Gorlin syndrome [RCV003609824] |
Chr1:44832232 [GRCh38]
Chr1:45297904 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3529G>T (p.Ala1177Ser) |
single nucleotide variant |
Gorlin syndrome [RCV003609319] |
Chr1:44822498 [GRCh38]
Chr1:45288170 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.526-8C>T |
single nucleotide variant |
Gorlin syndrome [RCV003608713] |
Chr1:44831805 [GRCh38]
Chr1:45297477 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2308C>A (p.Leu770Met) |
single nucleotide variant |
Gorlin syndrome [RCV003608732] |
Chr1:44827465 [GRCh38]
Chr1:45293137 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1203C>G (p.Gly401=) |
single nucleotide variant |
Gorlin syndrome [RCV003882700] |
Chr1:44829414 [GRCh38]
Chr1:45295086 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3258-7C>A |
single nucleotide variant |
Gorlin syndrome [RCV003608827] |
Chr1:44823175 [GRCh38]
Chr1:45288847 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3286A>G (p.Thr1096Ala) |
single nucleotide variant |
Gorlin syndrome [RCV003609533] |
Chr1:44823140 [GRCh38]
Chr1:45288812 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.936-12C>T |
single nucleotide variant |
Gorlin syndrome [RCV003827794] |
Chr1:44829773 [GRCh38]
Chr1:45295445 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1950G>A (p.Glu650=) |
single nucleotide variant |
Gorlin syndrome [RCV003609621] |
Chr1:44827951 [GRCh38]
Chr1:45293623 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1058A>G (p.Gln353Arg) |
single nucleotide variant |
Gorlin syndrome [RCV003609632] |
Chr1:44829639 [GRCh38]
Chr1:45295311 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1215+4G>A |
single nucleotide variant |
Gorlin syndrome [RCV003609387] |
Chr1:44829398 [GRCh38]
Chr1:45295070 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2791C>T (p.Arg931Trp) |
single nucleotide variant |
Gorlin syndrome [RCV003609640] |
Chr1:44826673 [GRCh38]
Chr1:45292345 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2900_2917dup (p.Leu972_Val973insAlaValCysIleLeuLeu) |
duplication |
not specified [RCV003489779] |
Chr1:44826546..44826547 [GRCh38]
Chr1:45292218..45292219 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3301C>T (p.Leu1101Phe) |
single nucleotide variant |
Gorlin syndrome [RCV003828605] |
Chr1:44823125 [GRCh38]
Chr1:45288797 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1590+11T>C |
single nucleotide variant |
Gorlin syndrome [RCV003610356] |
Chr1:44828495 [GRCh38]
Chr1:45294167 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3358-3C>T |
single nucleotide variant |
Gorlin syndrome [RCV003610486] |
Chr1:44822672 [GRCh38]
Chr1:45288344 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.528G>A (p.Met176Ile) |
single nucleotide variant |
Gorlin syndrome [RCV003610689] |
Chr1:44831795 [GRCh38]
Chr1:45297467 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3042G>T (p.Leu1014=) |
single nucleotide variant |
Gorlin syndrome [RCV003610742] |
Chr1:44826322 [GRCh38]
Chr1:45291994 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1416C>G (p.Phe472Leu) |
single nucleotide variant |
Gorlin syndrome [RCV003610774] |
Chr1:44829030 [GRCh38]
Chr1:45294702 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.355G>A (p.Ala119Thr) |
single nucleotide variant |
Gorlin syndrome [RCV003610656] |
Chr1:44832252 [GRCh38]
Chr1:45297924 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1216-5C>G |
single nucleotide variant |
Gorlin syndrome [RCV003610765] |
Chr1:44829317 [GRCh38]
Chr1:45294989 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1591-6C>A |
single nucleotide variant |
Gorlin syndrome [RCV003610940] |
Chr1:44828420 [GRCh38]
Chr1:45294092 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3416G>C (p.Gly1139Ala) |
single nucleotide variant |
Gorlin syndrome [RCV003610903] |
Chr1:44822611 [GRCh38]
Chr1:45288283 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2580G>A (p.Leu860=) |
single nucleotide variant |
Gorlin syndrome [RCV003610961] |
Chr1:44827017 [GRCh38]
Chr1:45292689 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.456-18T>C |
single nucleotide variant |
Gorlin syndrome [RCV003610972] |
Chr1:44832062 [GRCh38]
Chr1:45297734 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2668T>C (p.Tyr890His) |
single nucleotide variant |
Gorlin syndrome [RCV003610925] |
Chr1:44826929 [GRCh38]
Chr1:45292601 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2214G>A (p.Glu738=) |
single nucleotide variant |
Gorlin syndrome [RCV003610997] |
Chr1:44827559 [GRCh38]
Chr1:45293231 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.607G>A (p.Ala203Thr) |
single nucleotide variant |
Gorlin syndrome [RCV003610861] |
Chr1:44831716 [GRCh38]
Chr1:45297388 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1464+19G>C |
single nucleotide variant |
Gorlin syndrome [RCV003610942] |
Chr1:44828963 [GRCh38]
Chr1:45294635 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3505dup (p.Leu1169fs) |
duplication |
Gorlin syndrome [RCV003610978]|not provided [RCV003885370] |
Chr1:44822521..44822522 [GRCh38]
Chr1:45288193..45288194 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1993C>G (p.Arg665Gly) |
single nucleotide variant |
Gorlin syndrome [RCV003610490] |
Chr1:44827908 [GRCh38]
Chr1:45293580 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.358C>T (p.Arg120Cys) |
single nucleotide variant |
Gorlin syndrome [RCV003610546] |
Chr1:44832249 [GRCh38]
Chr1:45297921 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1464+10T>C |
single nucleotide variant |
Gorlin syndrome [RCV003610547] |
Chr1:44828972 [GRCh38]
Chr1:45294644 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2074C>T (p.Leu692Phe) |
single nucleotide variant |
Gorlin syndrome [RCV003835155] |
Chr1:44827699 [GRCh38]
Chr1:45293371 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2950C>T (p.Leu984Phe) |
single nucleotide variant |
Gorlin syndrome [RCV003610707] |
Chr1:44826514 [GRCh38]
Chr1:45292186 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.21C>G (p.Leu7=) |
single nucleotide variant |
Gorlin syndrome [RCV003610797] |
Chr1:44842912 [GRCh38]
Chr1:45308584 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.525+6T>G |
single nucleotide variant |
Gorlin syndrome [RCV003610826] |
Chr1:44831969 [GRCh38]
Chr1:45297641 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2745T>A (p.Arg915=) |
single nucleotide variant |
Gorlin syndrome [RCV003610836] |
Chr1:44826719 [GRCh38]
Chr1:45292391 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1084-14C>T |
single nucleotide variant |
Gorlin syndrome [RCV003815062] |
Chr1:44829547 [GRCh38]
Chr1:45295219 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.905T>G (p.Met302Arg) |
single nucleotide variant |
Gorlin syndrome [RCV003502205] |
Chr1:44829939 [GRCh38]
Chr1:45295611 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2354A>G (p.Tyr785Cys) |
single nucleotide variant |
Gorlin syndrome [RCV003855761] |
Chr1:44827419 [GRCh38]
Chr1:45293091 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.61G>A (p.Ala21Thr) |
single nucleotide variant |
Gorlin syndrome [RCV003610884]|not specified [RCV004374094] |
Chr1:44842872 [GRCh38]
Chr1:45308544 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2881C>T (p.Arg961Trp) |
single nucleotide variant |
Gorlin syndrome [RCV003610941] |
Chr1:44826583 [GRCh38]
Chr1:45292255 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3413G>A (p.Gly1138Glu) |
single nucleotide variant |
Gorlin syndrome [RCV003610904] |
Chr1:44822614 [GRCh38]
Chr1:45288286 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3433G>A (p.Ala1145Thr) |
single nucleotide variant |
Gorlin syndrome [RCV003834497] |
Chr1:44822594 [GRCh38]
Chr1:45288266 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1216-15C>T |
single nucleotide variant |
Gorlin syndrome [RCV003836862] |
Chr1:44829327 [GRCh38]
Chr1:45294999 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1316C>T (p.Ser439Leu) |
single nucleotide variant |
Gorlin syndrome [RCV003816508] |
Chr1:44829212 [GRCh38]
Chr1:45294884 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2582C>T (p.Thr861Ile) |
single nucleotide variant |
Gorlin syndrome [RCV003502462] |
Chr1:44827015 [GRCh38]
Chr1:45292687 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.525+3A>G |
single nucleotide variant |
Gorlin syndrome [RCV003502501] |
Chr1:44831972 [GRCh38]
Chr1:45297644 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2560G>A (p.Glu854Lys) |
single nucleotide variant |
Gorlin syndrome [RCV003610807] |
Chr1:44827037 [GRCh38]
Chr1:45292709 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1379C>A (p.Pro460His) |
single nucleotide variant |
Gorlin syndrome [RCV003502349] |
Chr1:44829067 [GRCh38]
Chr1:45294739 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1930_1931insGGGGGGG (p.Asp644fs) |
insertion |
Gorlin syndrome [RCV003502356] |
Chr1:44827970..44827971 [GRCh38]
Chr1:45293642..45293643 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3174A>G (p.Thr1058=) |
single nucleotide variant |
Gorlin syndrome [RCV003610473] |
Chr1:44823326 [GRCh38]
Chr1:45288998 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.236A>C (p.Glu79Ala) |
single nucleotide variant |
Gorlin syndrome [RCV003502055] |
Chr1:44841876 [GRCh38]
Chr1:45307548 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2370G>A (p.Gln790=) |
single nucleotide variant |
Gorlin syndrome [RCV003502072] |
Chr1:44827403 [GRCh38]
Chr1:45293075 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.843G>A (p.Gly281=) |
single nucleotide variant |
Gorlin syndrome [RCV003502091] |
Chr1:44830001 [GRCh38]
Chr1:45295673 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.813+10A>C |
single nucleotide variant |
Gorlin syndrome [RCV003502454] |
Chr1:44830838 [GRCh38]
Chr1:45296510 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.525+11T>C |
single nucleotide variant |
Gorlin syndrome [RCV003610865] |
Chr1:44831964 [GRCh38]
Chr1:45297636 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.73-19C>G |
single nucleotide variant |
Gorlin syndrome [RCV003851854] |
Chr1:44842058 [GRCh38]
Chr1:45307730 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1068G>A (p.Gln356=) |
single nucleotide variant |
Gorlin syndrome [RCV003610946] |
Chr1:44829629 [GRCh38]
Chr1:45295301 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2885G>A (p.Arg962His) |
single nucleotide variant |
Gorlin syndrome [RCV003610897] |
Chr1:44826579 [GRCh38]
Chr1:45292251 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1590+8C>T |
single nucleotide variant |
Gorlin syndrome [RCV003502179] |
Chr1:44828498 [GRCh38]
Chr1:45294170 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.3580A>C (p.Ser1194Arg) |
single nucleotide variant |
Gorlin syndrome [RCV003502223] |
Chr1:44822447 [GRCh38]
Chr1:45288119 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3487G>A (p.Ala1163Thr) |
single nucleotide variant |
Gorlin syndrome [RCV003502265] |
Chr1:44822540 [GRCh38]
Chr1:45288212 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.526-16G>C |
single nucleotide variant |
Gorlin syndrome [RCV003610696] |
Chr1:44831813 [GRCh38]
Chr1:45297485 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1593G>T (p.Ala531=) |
single nucleotide variant |
Gorlin syndrome [RCV003860920] |
Chr1:44828412 [GRCh38]
Chr1:45294084 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2371+19G>A |
single nucleotide variant |
Gorlin syndrome [RCV003867508] |
Chr1:44827383 [GRCh38]
Chr1:45293055 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.1853C>T (p.Pro618Leu) |
single nucleotide variant |
Gorlin syndrome [RCV003853004] |
Chr1:44828048 [GRCh38]
Chr1:45293720 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1835A>C (p.His612Pro) |
single nucleotide variant |
Gorlin syndrome [RCV003848531] |
Chr1:44828066 [GRCh38]
Chr1:45293738 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2576G>A (p.Gly859Glu) |
single nucleotide variant |
Gorlin syndrome [RCV003844110] |
Chr1:44827021 [GRCh38]
Chr1:45292693 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2260C>A (p.Arg754Ser) |
single nucleotide variant |
Gorlin syndrome [RCV003844295] |
Chr1:44827513 [GRCh38]
Chr1:45293185 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2379G>C (p.Gln793His) |
single nucleotide variant |
Gorlin syndrome [RCV003818251]|not specified [RCV004366700] |
Chr1:44827302 [GRCh38]
Chr1:45292974 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.659dup (p.Leu221fs) |
duplication |
Gorlin syndrome [RCV003840825] |
Chr1:44831001..44831002 [GRCh38]
Chr1:45296673..45296674 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1016A>C (p.His339Pro) |
single nucleotide variant |
not specified [RCV004515493] |
Chr1:44829681 [GRCh38]
Chr1:45295353 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.826G>A (p.Ala276Thr) |
single nucleotide variant |
not specified [RCV004515502] |
Chr1:44830018 [GRCh38]
Chr1:45295690 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2579T>A (p.Leu860Gln) |
single nucleotide variant |
not specified [RCV004515498] |
Chr1:44827018 [GRCh38]
Chr1:45292690 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.831C>A (p.His277Gln) |
single nucleotide variant |
not specified [RCV004515503] |
Chr1:44830013 [GRCh38]
Chr1:45295685 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.565C>T (p.Leu189Phe) |
single nucleotide variant |
not specified [RCV004515501] |
Chr1:44831758 [GRCh38]
Chr1:45297430 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2231A>C (p.Gln744Pro) |
single nucleotide variant |
not specified [RCV004515496] |
Chr1:44827542 [GRCh38]
Chr1:45293214 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.2560G>C (p.Glu854Gln) |
single nucleotide variant |
PTCH2-related disorder [RCV004552835] |
Chr1:44827037 [GRCh38]
Chr1:45292709 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.3331C>T (p.Leu1111=) |
single nucleotide variant |
PTCH2-related disorder [RCV004550993] |
Chr1:44823095 [GRCh38]
Chr1:45288767 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.977G>A (p.Arg326His) |
single nucleotide variant |
not specified [RCV003995073] |
Chr1:44829720 [GRCh38]
Chr1:45295392 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.*1A>G |
single nucleotide variant |
PTCH2-related disorder [RCV004552738] |
Chr1:44822414 [GRCh38]
Chr1:45288086 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2914C>T (p.Leu972=) |
single nucleotide variant |
PTCH2-related disorder [RCV004552722] |
Chr1:44826550 [GRCh38]
Chr1:45292222 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.490G>A (p.Gly164Arg) |
single nucleotide variant |
not specified [RCV004515500] |
Chr1:44832010 [GRCh38]
Chr1:45297682 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_003738.5(PTCH2):c.1137C>A (p.Ser379=) |
single nucleotide variant |
PTCH2-related disorder [RCV004554404] |
Chr1:44829480 [GRCh38]
Chr1:45295152 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_003738.5(PTCH2):c.2792G>T (p.Arg931Leu) |
single nucleotide variant |
Basal cell carcinoma, susceptibility to, 1 [RCV004574646] |
Chr1:44826672 [GRCh38]
Chr1:45292344 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
