| NM_004341.5(CAD):c.1402C>T (p.Arg468Cys) |
single nucleotide variant |
not provided [RCV000518935] |
Chr2:27225025 [GRCh38]
Chr2:27447893 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.5646G>A (p.Met1882Ile) |
single nucleotide variant |
not provided [RCV000519331] |
Chr2:27241065 [GRCh38]
Chr2:27463933 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.1830del (p.Asn611fs) |
deletion |
not provided [RCV000723126] |
Chr2:27225914 [GRCh38]
Chr2:27448782 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.2870G>T (p.Gly957Val) |
single nucleotide variant |
not provided [RCV000722925] |
Chr2:27232672 [GRCh38]
Chr2:27455540 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.43C>T (p.Gln15Ter) |
single nucleotide variant |
not provided [RCV000722983] |
Chr2:27217594 [GRCh38]
Chr2:27440462 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.5394+2T>C |
single nucleotide variant |
not provided [RCV000722385] |
Chr2:27239473 [GRCh38]
Chr2:27462341 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.3884G>A (p.Arg1295His) |
single nucleotide variant |
not provided [RCV000722453] |
Chr2:27235342 [GRCh38]
Chr2:27458210 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.367_368delinsTT (p.Glu123Leu) |
indel |
not provided [RCV000722756] |
Chr2:27222208..27222209 [GRCh38]
Chr2:27445076..27445077 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.2748C>G (p.Tyr916Ter) |
single nucleotide variant |
not provided [RCV000722887] |
Chr2:27232550 [GRCh38]
Chr2:27455418 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.2773A>G (p.Thr925Ala) |
single nucleotide variant |
not provided [RCV000521118] |
Chr2:27232575 [GRCh38]
Chr2:27455443 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 |
copy number gain |
See cases [RCV000052929] |
Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1 |
pathogenic |
| GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 |
copy number gain |
See cases [RCV000052933] |
Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1 |
pathogenic |
| GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3 |
copy number gain |
See cases [RCV000052629] |
Chr2:25759602..27297636 [GRCh38]
Chr2:25982471..27520504 [GRCh37]
Chr2:25835975..27374008 [NCBI36]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.3(CAD):c.683C>T (p.Ser228Phe) |
single nucleotide variant |
Malignant melanoma [RCV000065523] |
Chr2:27222911 [GRCh38]
Chr2:27445779 [GRCh37]
Chr2:27299283 [NCBI36]
Chr2:2p23.3 |
not provided |
| NM_004341.5(CAD):c.696C>T (p.Val232=) |
single nucleotide variant |
not provided [RCV000882308] |
Chr2:27222924 [GRCh38]
Chr2:27445792 [GRCh37]
Chr2:27299296 [NCBI36]
Chr2:2p23.3 |
likely benign|not provided |
| NM_001170795.1(ATRAID):c.671G>A (p.Arg224Gln) |
single nucleotide variant |
Malignant melanoma [RCV000060539] |
Chr2:27216929 [GRCh38]
Chr2:27439797 [GRCh37]
Chr2:27293301 [NCBI36]
Chr2:2p23.3 |
not provided |
| GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 |
copy number gain |
See cases [RCV000135398] |
Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2 |
pathogenic |
| GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 |
copy number gain |
See cases [RCV000141829] |
Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3 |
pathogenic |
| GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 |
copy number gain |
See cases [RCV000141494] |
Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2 |
benign |
| GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1 |
copy number loss |
See cases [RCV000142071] |
Chr2:22579652..28525186 [GRCh38]
Chr2:22802524..28748053 [GRCh37]
Chr2:22656029..28601557 [NCBI36]
Chr2:2p24.1-23.2 |
pathogenic |
| GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 |
copy number gain |
See cases [RCV000143682] |
Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21 |
pathogenic |
| NM_004341.5(CAD):c.6071G>A (p.Arg2024Gln) |
single nucleotide variant |
Epileptic encephalopathy, early infantile, 50 [RCV000185621] |
Chr2:27242098 [GRCh38]
Chr2:27464966 [GRCh37]
Chr2:2p23.3 |
pathogenic |
| NM_004341.5(CAD):c.1843-1G>A |
single nucleotide variant |
Epileptic encephalopathy, early infantile, 50 [RCV000185620] |
Chr2:27226130 [GRCh38]
Chr2:27448998 [GRCh37]
Chr2:2p23.3 |
pathogenic |
| NM_004341.5(CAD):c.1730T>C (p.Leu577Pro) |
single nucleotide variant |
not provided [RCV000722286] |
Chr2:27225814 [GRCh38]
Chr2:27448682 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_004341.5(CAD):c.3512C>A (p.Pro1171Gln) |
single nucleotide variant |
Epileptic encephalopathy, early infantile, 50 [RCV001270832] |
Chr2:27234120 [GRCh38]
Chr2:27456988 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.2617_2620del (p.Asp873fs) |
deletion |
not provided [RCV000490138] |
Chr2:27232194..27232197 [GRCh38]
Chr2:27455062..27455065 [GRCh37]
Chr2:2p23.3 |
pathogenic |
| NM_004341.5(CAD):c.3367G>A (p.Val1123Met) |
single nucleotide variant |
not provided [RCV000585384] |
Chr2:27233776 [GRCh38]
Chr2:27456644 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.6149G>A (p.Gly2050Glu) |
single nucleotide variant |
not provided [RCV000722563] |
Chr2:27242354 [GRCh38]
Chr2:27465222 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.3359A>T (p.Glu1120Val) |
single nucleotide variant |
not provided [RCV000722798] |
Chr2:27233768 [GRCh38]
Chr2:27456636 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.1843-3C>T |
single nucleotide variant |
Epileptic encephalopathy, early infantile, 50 [RCV000415584] |
Chr2:27226128 [GRCh38]
Chr2:27448996 [GRCh37]
Chr2:2p23.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_004341.5(CAD):c.3748G>A (p.Val1250Met) |
single nucleotide variant |
not provided [RCV000730242] |
Chr2:27234647 [GRCh38]
Chr2:27457515 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.5365C>T (p.Arg1789Ter) |
single nucleotide variant |
Epileptic encephalopathy, early infantile, 50 [RCV000415514] |
Chr2:27239442 [GRCh38]
Chr2:27462310 [GRCh37]
Chr2:2p23.3 |
pathogenic |
| NM_004341.5(CAD):c.98T>G (p.Met33Arg) |
single nucleotide variant |
Epileptic encephalopathy, early infantile, 50 [RCV000415540]|not provided [RCV000520587] |
Chr2:27217892 [GRCh38]
Chr2:27440760 [GRCh37]
Chr2:2p23.3 |
pathogenic|likely pathogenic |
| NM_004341.5(CAD):c.1536C>T (p.Thr512=) |
single nucleotide variant |
not provided [RCV000729063] |
Chr2:27225159 [GRCh38]
Chr2:27448027 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.6343G>C (p.Val2115Leu) |
single nucleotide variant |
not provided [RCV000439766] |
Chr2:27242740 [GRCh38]
Chr2:27465608 [GRCh37]
Chr2:2p23.3 |
likely benign |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln) |
single nucleotide variant |
Epileptic encephalopathy, early infantile, 50 [RCV000986606]|not provided [RCV000485191] |
Chr2:27239731 [GRCh38]
Chr2:27462599 [GRCh37]
Chr2:2p23.3 |
likely pathogenic |
| NM_004341.5(CAD):c.5392C>A (p.Gln1798Lys) |
single nucleotide variant |
not provided [RCV000729064] |
Chr2:27239469 [GRCh38]
Chr2:27462337 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.5296_5308del (p.Phe1766fs) |
deletion |
not provided [RCV000494074] |
Chr2:27239369..27239381 [GRCh38]
Chr2:27462237..27462249 [GRCh37]
Chr2:2p23.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_004341.5(CAD):c.2646-7A>G |
single nucleotide variant |
not provided [RCV000970599]|not specified [RCV000603992] |
Chr2:27232441 [GRCh38]
Chr2:27455309 [GRCh37]
Chr2:2p23.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_004341.5(CAD):c.178T>C (p.Tyr60His) |
single nucleotide variant |
not provided [RCV000585151] |
Chr2:27217972 [GRCh38]
Chr2:27440840 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.2893-9C>T |
single nucleotide variant |
not provided [RCV000971208]|not specified [RCV000613015] |
Chr2:27233033 [GRCh38]
Chr2:27455901 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.6576-5T>G |
single nucleotide variant |
not specified [RCV000607683] |
Chr2:27243411 [GRCh38]
Chr2:27466279 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.5823C>G (p.Phe1941Leu) |
single nucleotide variant |
not provided [RCV000513202] |
Chr2:27241336 [GRCh38]
Chr2:27464204 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.5958G>C (p.Arg1986=) |
single nucleotide variant |
not provided [RCV000513551] |
Chr2:27241985 [GRCh38]
Chr2:27464853 [GRCh37]
Chr2:2p23.3 |
likely benign|uncertain significance |
| GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 |
copy number gain |
not provided [RCV000752875] |
Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3 |
pathogenic |
| NM_004341.5(CAD):c.739C>A (p.Pro247Thr) |
single nucleotide variant |
not provided [RCV000722604] |
Chr2:27222967 [GRCh38]
Chr2:27445835 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.812A>G (p.Tyr271Cys) |
single nucleotide variant |
not provided [RCV000722608] |
Chr2:27223565 [GRCh38]
Chr2:27446433 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_004341.5(CAD):c.713G>A (p.Arg238His) |
single nucleotide variant |
not provided [RCV000893299] |
Chr2:27222941 [GRCh38]
Chr2:27445809 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.3471T>C (p.Asn1157=) |
single nucleotide variant |
not provided [RCV000916139] |
Chr2:27234079 [GRCh38]
Chr2:27456947 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.2496C>T (p.Ile832=) |
single nucleotide variant |
not provided [RCV000895870] |
Chr2:27232075 [GRCh38]
Chr2:27454943 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.1290G>T (p.Thr430=) |
single nucleotide variant |
not provided [RCV000914075] |
Chr2:27224780 [GRCh38]
Chr2:27447648 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.1394G>A (p.Arg465His) |
single nucleotide variant |
not provided [RCV001090851] |
Chr2:27225017 [GRCh38]
Chr2:27447885 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.625C>G (p.Leu209Val) |
single nucleotide variant |
not provided [RCV000997095] |
Chr2:27222648 [GRCh38]
Chr2:27445516 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.4065T>C (p.His1355=) |
single nucleotide variant |
not provided [RCV000905961] |
Chr2:27235631 [GRCh38]
Chr2:27458499 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_004341.5(CAD):c.1158C>T (p.Pro386=) |
single nucleotide variant |
not provided [RCV000900512] |
Chr2:27224394 [GRCh38]
Chr2:27447262 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.4647C>T (p.Ala1549=) |
single nucleotide variant |
not provided [RCV000884169] |
Chr2:27237801 [GRCh38]
Chr2:27460669 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_004341.5(CAD):c.6459C>T (p.Gly2153=) |
single nucleotide variant |
not provided [RCV000907002] |
Chr2:27242952 [GRCh38]
Chr2:27465820 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.346T>C (p.Leu116=) |
single nucleotide variant |
not provided [RCV000966140] |
Chr2:27221341 [GRCh38]
Chr2:27444209 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.2388A>C (p.Pro796=) |
single nucleotide variant |
not provided [RCV000928510] |
Chr2:27231568 [GRCh38]
Chr2:27454436 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.1109-4A>G |
single nucleotide variant |
not provided [RCV000884942] |
Chr2:27224341 [GRCh38]
Chr2:27447209 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_004341.5(CAD):c.2288-7C>T |
single nucleotide variant |
not provided [RCV000936474] |
Chr2:27231461 [GRCh38]
Chr2:27454329 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.2844C>T (p.Ser948=) |
single nucleotide variant |
not provided [RCV000882499] |
Chr2:27232646 [GRCh38]
Chr2:27455514 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.3087G>T (p.Arg1029=) |
single nucleotide variant |
not provided [RCV000882500] |
Chr2:27233407 [GRCh38]
Chr2:27456275 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_004341.5(CAD):c.525C>T (p.Ala175=) |
single nucleotide variant |
not provided [RCV000905704] |
Chr2:27222548 [GRCh38]
Chr2:27445416 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.3400-7C>T |
single nucleotide variant |
not provided [RCV000921548] |
Chr2:27234001 [GRCh38]
Chr2:27456869 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_004341.5(CAD):c.4932C>T (p.Phe1644=) |
single nucleotide variant |
not provided [RCV000904221] |
Chr2:27238502 [GRCh38]
Chr2:27461370 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.686A>G (p.Tyr229Cys) |
single nucleotide variant |
not provided [RCV000904304] |
Chr2:27222914 [GRCh38]
Chr2:27445782 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.3162C>T (p.Leu1054=) |
single nucleotide variant |
not provided [RCV000881977] |
Chr2:27233482 [GRCh38]
Chr2:27456350 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_004341.5(CAD):c.4578C>T (p.Gly1526=) |
single nucleotide variant |
not provided [RCV000899593] |
Chr2:27237732 [GRCh38]
Chr2:27460600 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.6576-4G>T |
single nucleotide variant |
not provided [RCV000901345] |
Chr2:27243412 [GRCh38]
Chr2:27466280 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.1593G>A (p.Pro531=) |
single nucleotide variant |
not provided [RCV000903073] |
Chr2:27225216 [GRCh38]
Chr2:27448084 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.123T>C (p.Thr41=) |
single nucleotide variant |
not provided [RCV000946595] |
Chr2:27217917 [GRCh38]
Chr2:27440785 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_004341.5(CAD):c.82+10C>T |
single nucleotide variant |
not provided [RCV000927246] |
Chr2:27217643 [GRCh38]
Chr2:27440511 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.1254+9T>C |
single nucleotide variant |
not provided [RCV000900051] |
Chr2:27224499 [GRCh38]
Chr2:27447367 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.2497G>A (p.Asp833Asn) |
single nucleotide variant |
not provided [RCV000946596] |
Chr2:27232076 [GRCh38]
Chr2:27454944 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_004341.5(CAD):c.4710C>T (p.Ser1570=) |
single nucleotide variant |
not provided [RCV000883635] |
Chr2:27237864 [GRCh38]
Chr2:27460732 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_004341.5(CAD):c.6020T>C (p.Leu2007Pro) |
single nucleotide variant |
Intellectual disability [RCV001030800] |
Chr2:27242047 [GRCh38]
Chr2:27464915 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.2079G>A (p.Leu693=) |
single nucleotide variant |
not provided [RCV000970817] |
Chr2:27226572 [GRCh38]
Chr2:27449440 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_004341.5(CAD):c.4380G>A (p.Lys1460=) |
single nucleotide variant |
not provided [RCV000917237] |
Chr2:27236814 [GRCh38]
Chr2:27459682 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.5362C>T (p.Leu1788=) |
single nucleotide variant |
not provided [RCV000908236] |
Chr2:27239439 [GRCh38]
Chr2:27462307 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.3975A>G (p.Lys1325=) |
single nucleotide variant |
not provided [RCV000972580] |
Chr2:27235541 [GRCh38]
Chr2:27458409 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_004341.5(CAD):c.2748C>T (p.Tyr916=) |
single nucleotide variant |
not provided [RCV000974003] |
Chr2:27232550 [GRCh38]
Chr2:27455418 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_004341.5(CAD):c.6097-4C>A |
single nucleotide variant |
not provided [RCV000923699] |
Chr2:27242298 [GRCh38]
Chr2:27465166 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.141A>G (p.Ala47=) |
single nucleotide variant |
not provided [RCV000908674] |
Chr2:27217935 [GRCh38]
Chr2:27440803 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.4230C>T (p.Thr1410=) |
single nucleotide variant |
not provided [RCV000908775] |
Chr2:27236439 [GRCh38]
Chr2:27459307 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.5157C>T (p.Ser1719=) |
single nucleotide variant |
not provided [RCV000880075] |
Chr2:27239136 [GRCh38]
Chr2:27462004 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.6117G>A (p.Arg2039=) |
single nucleotide variant |
not provided [RCV000953655] |
Chr2:27242322 [GRCh38]
Chr2:27465190 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.4702C>T (p.Leu1568=) |
single nucleotide variant |
not provided [RCV000903576] |
Chr2:27237856 [GRCh38]
Chr2:27460724 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.4930T>C (p.Phe1644Leu) |
single nucleotide variant |
Epileptic encephalopathy, early infantile, 50 [RCV000986605]|not provided [RCV000971209] |
Chr2:27238500 [GRCh38]
Chr2:27461368 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.3541C>T (p.Arg1181Trp) |
single nucleotide variant |
not provided [RCV000882816] |
Chr2:27234149 [GRCh38]
Chr2:27457017 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.5871C>T (p.Leu1957=) |
single nucleotide variant |
not provided [RCV000917634] |
Chr2:27241384 [GRCh38]
Chr2:27464252 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.3426T>C (p.Ser1142=) |
single nucleotide variant |
not provided [RCV000916731] |
Chr2:27234034 [GRCh38]
Chr2:27456902 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.3639T>C (p.Ile1213=) |
single nucleotide variant |
not provided [RCV000919215] |
Chr2:27234538 [GRCh38]
Chr2:27457406 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.3897C>T (p.Tyr1299=) |
single nucleotide variant |
not provided [RCV000909786] |
Chr2:27235355 [GRCh38]
Chr2:27458223 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.5058C>T (p.Asp1686=) |
single nucleotide variant |
not provided [RCV000954378] |
Chr2:27238628 [GRCh38]
Chr2:27461496 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_004341.5(CAD):c.4850G>A (p.Arg1617Gln) |
single nucleotide variant |
not provided [RCV000810418] |
Chr2:27238177 [GRCh38]
Chr2:27461045 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.4179T>A (p.Ile1393=) |
single nucleotide variant |
not provided [RCV000914115] |
Chr2:27236388 [GRCh38]
Chr2:27459256 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.571C>T (p.Arg191Ter) |
single nucleotide variant |
Epileptic encephalopathy, early infantile, 50 [RCV000986604] |
Chr2:27222594 [GRCh38]
Chr2:27445462 [GRCh37]
Chr2:2p23.3 |
pathogenic |
| NM_004341.5(CAD):c.2577G>A (p.Pro859=) |
single nucleotide variant |
not provided [RCV000976522] |
Chr2:27232156 [GRCh38]
Chr2:27455024 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_004341.5(CAD):c.247G>C (p.Val83Leu) |
single nucleotide variant |
not provided [RCV000997093] |
Chr2:27221242 [GRCh38]
Chr2:27444110 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.1486C>T (p.Arg496Trp) |
single nucleotide variant |
not provided [RCV000997096] |
Chr2:27225109 [GRCh38]
Chr2:27447977 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.6001G>A (p.Val2001Ile) |
single nucleotide variant |
not provided [RCV000997098] |
Chr2:27242028 [GRCh38]
Chr2:27464896 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.5718C>A (p.Thr1906=) |
single nucleotide variant |
not provided [RCV000893202] |
Chr2:27241137 [GRCh38]
Chr2:27464005 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.83-3C>T |
single nucleotide variant |
not provided [RCV000893415] |
Chr2:27217874 [GRCh38]
Chr2:27440742 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.4866G>A (p.Leu1622=) |
single nucleotide variant |
not provided [RCV000893580] |
Chr2:27238436 [GRCh38]
Chr2:27461304 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_004341.5(CAD):c.5919C>T (p.Ser1973=) |
single nucleotide variant |
not provided [RCV000892825] |
Chr2:27241946 [GRCh38]
Chr2:27464814 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.495+7A>T |
single nucleotide variant |
not provided [RCV000997094] |
Chr2:27222343 [GRCh38]
Chr2:27445211 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.4954C>T (p.Arg1652Cys) |
single nucleotide variant |
not provided [RCV000997097] |
Chr2:27238524 [GRCh38]
Chr2:27461392 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.256C>T (p.Leu86=) |
single nucleotide variant |
not provided [RCV000929709] |
Chr2:27221251 [GRCh38]
Chr2:27444119 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.2868A>G (p.Val956=) |
single nucleotide variant |
not provided [RCV000933197] |
Chr2:27232670 [GRCh38]
Chr2:27455538 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.1632C>T (p.Ala544=) |
single nucleotide variant |
not provided [RCV000907157] |
Chr2:27225716 [GRCh38]
Chr2:27448584 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_004341.5(CAD):c.6285C>T (p.Thr2095=) |
single nucleotide variant |
not provided [RCV000886158] |
Chr2:27242682 [GRCh38]
Chr2:27465550 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.3423C>T (p.Ala1141=) |
single nucleotide variant |
not provided [RCV000919604] |
Chr2:27234031 [GRCh38]
Chr2:27456899 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.5727G>A (p.Leu1909=) |
single nucleotide variant |
not provided [RCV000914671] |
Chr2:27241146 [GRCh38]
Chr2:27464014 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.3012G>A (p.Glu1004=) |
single nucleotide variant |
not provided [RCV000914982] |
Chr2:27233332 [GRCh38]
Chr2:27456200 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.129C>T (p.Pro43=) |
single nucleotide variant |
not provided [RCV000917133] |
Chr2:27217923 [GRCh38]
Chr2:27440791 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.3132G>A (p.Ser1044=) |
single nucleotide variant |
not provided [RCV000931247] |
Chr2:27233452 [GRCh38]
Chr2:27456320 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.435T>G (p.Pro145=) |
single nucleotide variant |
not provided [RCV000955284] |
Chr2:27222276 [GRCh38]
Chr2:27445144 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.1139C>A (p.Pro380His) |
single nucleotide variant |
not provided [RCV000953236] |
Chr2:27224375 [GRCh38]
Chr2:27447243 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.1551C>G (p.Ala517=) |
single nucleotide variant |
not provided [RCV000953237] |
Chr2:27225174 [GRCh38]
Chr2:27448042 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.1620+10G>T |
single nucleotide variant |
not provided [RCV000953238] |
Chr2:27225253 [GRCh38]
Chr2:27448121 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.4596G>A (p.Ala1532=) |
single nucleotide variant |
not provided [RCV000968538] |
Chr2:27237750 [GRCh38]
Chr2:27460618 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_004341.5(CAD):c.4902G>A (p.Val1634=) |
single nucleotide variant |
not provided [RCV000968539] |
Chr2:27238472 [GRCh38]
Chr2:27461340 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_004341.5(CAD):c.1083A>G (p.Thr361=) |
single nucleotide variant |
not provided [RCV000886946] |
Chr2:27224004 [GRCh38]
Chr2:27446872 [GRCh37]
Chr2:2p23.3 |
benign|likely benign |
| NM_004341.5(CAD):c.6102C>T (p.Ala2034=) |
single nucleotide variant |
not provided [RCV000909494] |
Chr2:27242307 [GRCh38]
Chr2:27465175 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_004341.5(CAD):c.2576C>T (p.Pro859Leu) |
single nucleotide variant |
not provided [RCV000960828] |
Chr2:27232155 [GRCh38]
Chr2:27455023 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.3810C>T (p.Arg1270=) |
single nucleotide variant |
not provided [RCV000902150] |
Chr2:27235268 [GRCh38]
Chr2:27458136 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.1071G>A (p.Val357=) |
single nucleotide variant |
not provided [RCV000908235] |
Chr2:27223992 [GRCh38]
Chr2:27446860 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.3186G>A (p.Gln1062=) |
single nucleotide variant |
not provided [RCV000907597] |
Chr2:27233506 [GRCh38]
Chr2:27456374 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_004341.5(CAD):c.5394+8A>G |
single nucleotide variant |
not provided [RCV000961393] |
Chr2:27239479 [GRCh38]
Chr2:27462347 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.6054C>T (p.Ala2018=) |
single nucleotide variant |
not provided [RCV000933782] |
Chr2:27242081 [GRCh38]
Chr2:27464949 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.5593+8T>A |
single nucleotide variant |
not provided [RCV000890379] |
Chr2:27240369 [GRCh38]
Chr2:27463237 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.3537G>A (p.Leu1179=) |
single nucleotide variant |
not provided [RCV000889362] |
Chr2:27234145 [GRCh38]
Chr2:27457013 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_004341.5(CAD):c.400C>T (p.Leu134=) |
single nucleotide variant |
not provided [RCV000911359] |
Chr2:27222241 [GRCh38]
Chr2:27445109 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.933C>T (p.Leu311=) |
single nucleotide variant |
not provided [RCV000935129] |
Chr2:27223686 [GRCh38]
Chr2:27446554 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.4587C>T (p.Cys1529=) |
single nucleotide variant |
not provided [RCV000913956] |
Chr2:27237741 [GRCh38]
Chr2:27460609 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.5232G>A (p.Pro1744=) |
single nucleotide variant |
not provided [RCV000913983] |
Chr2:27239211 [GRCh38]
Chr2:27462079 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.5979C>T (p.Ser1993=) |
single nucleotide variant |
not provided [RCV000911626] |
Chr2:27242006 [GRCh38]
Chr2:27464874 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.246C>T (p.His82=) |
single nucleotide variant |
not provided [RCV000912760] |
Chr2:27221241 [GRCh38]
Chr2:27444109 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.3400-5G>A |
single nucleotide variant |
not provided [RCV000912687] |
Chr2:27234003 [GRCh38]
Chr2:27456871 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_004341.5(CAD):c.5545_5546del (p.Phe1849fs) |
deletion |
Epileptic encephalopathy, early infantile, 50 [RCV001196647] |
Chr2:27240313..27240314 [GRCh38]
Chr2:27463181..27463182 [GRCh37]
Chr2:2p23.3 |
pathogenic |
| NM_004341.5(CAD):c.4760T>C (p.Ile1587Thr) |
single nucleotide variant |
not provided [RCV001234150] |
Chr2:27238087 [GRCh38]
Chr2:27460955 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.6365G>A (p.Arg2122His) |
single nucleotide variant |
not provided [RCV001234151] |
Chr2:27242762 [GRCh38]
Chr2:27465630 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.1068_1069TG[1] (p.Val357fs) |
microsatellite |
not provided [RCV001008909] |
Chr2:27223989..27223990 [GRCh38]
Chr2:27446857..27446858 [GRCh37]
Chr2:2p23.3 |
likely pathogenic |
| NM_004341.5(CAD):c.4810C>T (p.Gln1604Ter) |
single nucleotide variant |
not provided [RCV001254807] |
Chr2:27238137 [GRCh38]
Chr2:27461005 [GRCh37]
Chr2:2p23.3 |
likely pathogenic |
| NM_004341.5(CAD):c.4735G>A (p.Glu1579Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV001267173] |
Chr2:27238062 [GRCh38]
Chr2:27460930 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.2386C>A (p.Pro796Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV001267172] |
Chr2:27231566 [GRCh38]
Chr2:27454434 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.2684G>T (p.Gly895Val) |
single nucleotide variant |
Seizures [RCV001281463] |
Chr2:27232486 [GRCh38]
Chr2:27455354 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_004341.5(CAD):c.4315-1G>A |
single nucleotide variant |
Epileptic encephalopathy, early infantile, 50 [RCV001270833] |
Chr2:27236748 [GRCh38]
Chr2:27459616 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
