סקר גנטי לנשאות מחלות תורשתיות - סקר מורחב

133 ||Gaucher disease, type I ||230800 ||GBA ||c.84insG ||p.Leu29Alafs*18 135 ||Glutaricaciduria, type I ||231670 ||GCDH ||c.1173delG ||p.Asn392Metfs*9 1139 ||Glutaricaciduria, type I ||231670 ||GCDH ||c.1204C>T ||p.Arg402Trp 1140 ||Glutaricaciduria, type I ||231670 ||GCDH ||c.1247C>T ||p.Thr416Ile 1141 ||Glutaricaciduria, type I ||231670 ||GCDH ||c.1262C>T ||p.Ala421Val 1142 ||Glutaricaciduria, type I ||231670 ||GCDH ||c.301G>A ||p.Gly101Arg 298 ||Glutaric acidemia IIC ||231680 ||ETFDH ||c.1084G>A ||p.Gly362Arg 262 ||Glycogen storage disease Ib ||232220 ||SLC37A4 ||c.1042_1043delCT ||p.Leu348Valfs*53 241 ||McArdle disease ||232600 ||PYGM ||c.632delG ||p.Ser211Thrfs*84 211 ||Gray platelet syndrome ||139090 ||NBEAL2 ||c.2701C>T ||p.Arg901* 1099 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.1039C>T ||p.Gln347* 1100 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.247C>T ||p.Arg83Cys 1101 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.248G>A ||p.Arg83His 1102 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.380_381insTA ||p.Tyr127delinsTyrThr*fs 1103 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.497T>G ||p.Val166Gly 1104 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.508C>T ||p.Arg170* 1105 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.562G>C ||p.Gly188Arg 1106 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.648G>T ||p.Leu216= 1107 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.724C>T ||p.Gln242* 1108 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.79delC ||p.Gln27Arg*fs 1109 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.809G>T ||p.Gly270Val 1110 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.979_981delTTC ||p.Phe327del 134 ||Glycogen storage disease IV ||232500 ||GBE1 ||c.986A>C ||p.Tyr329Ser 847 ||Glycogen storage disease III ||232400 ||AGL ||c.1222C>T ||p.Arg408* 848 ||Glycogen storage disease III ||232400 ||AGL ||c.4455delT ||p.Leu1485=fs* 1032 ||Haim-Munk syndrome ||245010 ||CTSC ||c.857A>G ||p.Gln286Arg 144 ||Hemochromatosis ||235200 ||HFE ||c.187C>G ||p.His63Asp 145 ||Hemochromatosis ||235200 ||HFE ||c.193A>T ||p.Ser65Cys 146 ||Hemochromatosis ||235200 ||HFE ||c.845G>A ||p.Cys282Tyr 1172 ||Sickle Cell Anemia ||603903 ||HBB ||c.19G>A ||p.Glu7Gln 1173 ||Sickle Cell Anemia ||603903 ||HBB ||c.20A>T ||p.Glu7Val 1174 ||Sickle Cell Anemia ||603903 ||HBB ||c.364G>A ||p.Glu122Lys 1175 ||Sickle Cell Anemia ||603903 ||HBB ||c.364G>C ||p.Glu122Gln 1171 ||Hemoglobin H disease, nondeletional ||613978 ||HBA2 ||c.427T>C ||p.*143Gln 1176 ||Sickle Cell Anemia ||603903 ||HBB ||c.79G>A ||p.Glu27Lys 58 ||Complement factor H deficiency ||609814 ||CFH ||c.3674A>T;3675_3699del24 ||p.Tyr1225Phefs*4 274 ||Deafness, autosomal recessive 7 ||600974 ||TMC1 ||c.100C>T ||p.Arg34* 196 ||Deafness, nonsyndromic sensorineural, mitochondrial ||500008 ||MT-RNR1 ||m.1555A>G ||mtDNA 857 ||Megaloblastic anemia-1, Norwegian type ||261100 ||AMN ||c.208-2A>G ||Intron 98 ||Exostoses, multiple, type 1 ||133700 ||EXT1 ||c.1415T>A ||p.Leu472* 303 ||Colorectal cancer, hereditary nonpolyposis, type 2 ||609310 ||MLH1 ||c.1770_1771 delGA ||p.Asp591* 186 ||Colorectal cancer, hereditary nonpolyposis, type 1 ||120435 ||MSH2 ||c.1906G>C ||p.Ala636Pro 188 ||Colorectal cancer, hereditary nonpolyposis, type 5 ||609310 ||MSH6 ||c.3516_3519delAGTG ||p.Arg1172Serfs*11 189 ||Colorectal cancer, hereditary nonpolyposis, type 5 ||609310 ||MSH6 ||c.3959_3962delCAAG ||p.Ala1320Glufs*6 190 ||Colorectal cancer, hereditary nonpolyposis, type 5 ||609310 ||MSH6 ||c.3984insGTCA ||p.Leu1330Valfs*12 187 ||Colorectal cancer, hereditary nonpolyposis, type 1 ||120435 ||MSH2 ||c.970_971delCA ||p.Gln324Valfs*8 272 ||Spastic paraplegia 49, autosomal recessive ||615031 ||TECPR2 ||c.3416delT ||p.Leu1139Argfs*75 1213 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMB3 ||c.1903C>T ||p.Arg635* 1212 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMA3 ||c.1981C>T ||p.Arg661* 1214 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMB3 ||c.3024delT ||fs 1215 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMB3 ||c.430C>T ||p.Arg144* 1216 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMB3 ||c.727C>T ||p.Gln243* 1199 ||Hermansky-Pudlak syndrome 6 ||614075 ||HPS6 ||c.1065insG ||fs 1195 ||Hermansky-Pudlak syndrome 3 ||614072 ||HPS3 ||c.1163+1G>A ||Intron 1196 ||Hermansky-Pudlak syndrome 3 ||614072 ||HPS3 ||c.1691+2T>G ||Intron 1197 ||Hermansky-Pudlak syndrome 3 ||614072 ||HPS3 ||c.2482-2A>G ||Intron 1198 ||Hermansky-Pudlak syndrome 3 ||614072 ||HPS3 ||Large deletion ||Large deletion 1164 ||Inclusion body myopathy, autosomal recessive ||600737 ||GNE ||c.2135T>C ||p.Met712Thr 1194 ||HMG-CoA lyase deficiency ||246450 ||HMGCL ||c.122G>A ||p.Arg41Gln 252 ||Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis ||613845 ||SARS2 ||c.1169A>G ||p.Asp390Gly 1200 ||Mucopolysaccharidosis Ih ||607014 ||IDUA ||c.1205G>A ||p.Trp402* 1201 ||Mucopolysaccharidosis Ih ||607014 ||IDUA ||c.1598C>G ||p.Pro533Arg 1202 ||Mucopolysaccharidosis Ih ||607014 ||IDUA ||c.208C>T ||p.Gln70* 1219 ||Hypercholesterolemia, familial ||143890 ||LDLR ||c.2043C>A ||p.Cys681* 1220 ||Hypercholesterolemia, familial ||143890 ||LDLR ||c.652_654delGGT ||p.Gly218del 1221 ||Hypercholesterolemia, familial ||143890 ||LDLR ||c.681C>G ||p.Asp227Glu 1222 ||Hypercholesterolemia, familial ||143890 ||LDLR ||Large deletion ||Large deletion 1055 ||Hyperoxaluria, primary, type III ||613616 ||DHDPSL ||c.860G>T ||p.Gly287Val 1056 ||Hyperoxaluria, primary, type III ||613616 ||DHDPSL ||c.944_946delAGG ||fs 849 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.121G>A ||p.Gly41Arg 850 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.731T>C ||p.Ile244Thr 12 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.33insC ||p.Lys12Glnfs*156 13 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.584T>G ||p.Met195Arg 14 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.697C>T ||p.Arg233Cys 15 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.727G>C ||p.Asp243His 16 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.837T>G ||p.Ile279Met 17 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.997A>T ||p.Arg333* 113 ||Hypochondroplasia ||146000 ||FGFR3 ||c.1620C>A ||p.Asn540Lys 114 ||Hypochondroplasia ||146000 ||FGFR3 ||c.1620C>G ||p.Asn540Lys 7 ||Hyperinsulinemic hypoglycemia, familial, 1 ||256450 ||ABCC8 ||c.2506C>T ||p.Arg836* 158 ||Hypogonadotropic hypogonadism 8 with or without anosmia ||614837 ||KISS1R ||c.305T>C ||p.Leu102Pro 159 ||Hypogonadotropic hypogonadism 8 with or without anosmia ||614837 ||KISS1R ||c.815T>C ||p.Phe272Ser 1332 ||Hypothyroidism, congenital, nongoitrous, 1 ||275200 ||TSHR ||c.1825C>T ||p.Arg609* 1333 ||Hypothyroidism, congenital, nongoitrous, 1 ||275200 ||TSHR ||c.1957C>G ||p.Leu653Val 270 ||Hypoparathyroidism-retardation-dysmorphism syndrome ||241410 ||TBCE ||c.155_166delGCCACGAAGGGA ||p.Ser52Thrfs*473 291 ||Hypophosphatasia, infantile ||241500 ||ALPL ||c.1348C>T ||p.Arg450Cys 122 ||Ichthyosis vulgaris ||146700 ||FLG ||c.1501C>T ||p.Arg501* 123 ||Ichthyosis vulgaris ||146700 ||FLG ||c.2282_2285delCAGT ||p.Ser762Cysfs*36 275 ||Dystonia-1, torsion ||128100 ||TOR1A ||c.904_906delGAG ||p.Glu302del 217 ||Striatonigral degeneration, infantile ||271930 ||NUP62 ||c.1172A>C ||p.Gln391Pro 1228 ||Microcephaly, postnatal progressive, with seizures and brain atrophy ||613668 ||MED17 ||c.1112T>C ||p.Leu371Pro 226 ||Infantile neuroaxonal dystrophy 1 ||256600 ||PLA2G6 ||c.2070_2072delTGT ||p.Val691del 258 ||Sialic acid storage disorder, infantile ||269920 ||SLC17A5 ||c.983G>A ||p.Gly328Glu 137 ||Growth hormone deficiency, isolated, type IB ||262400 ||GHRHR ||c.1069C>T ||p.Arg357Cys 299 ||Growth hormone deficiency, isolated, type IA ||262400 ||GH1 ||c.456+5G>C ||Intron 1211 ||Isovaleric acidemia ||243500 ||IVD ||c.941C>T ||p.Ala314Val 235 ||Metaphyseal chondrodysplasia, Murk Jansen type ||156400 ||PTH1R ||c.1228A>C ||p.Thr410Pro 236 ||Metaphyseal chondrodysplasia, Murk Jansen type ||156400 ||PTH1R ||c.668A>G ||p.His223Arg 1327 ||Joubert syndrome 2 ||608091 ||TMEM216 ||c.218G>A ||p.Arg73His 1328 ||Joubert syndrome 2 ||608091 ||TMEM216 ||c.218G>T ||p.Arg73Leu 1329 ||Joubert syndrome 2 ||608091 ||TMEM216 ||c.230G>C ||p.Gly77Ala 164 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMC2 ||c.1756C>T ||p.Arg586* 162 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMB3 ||c.2166C>A ||p.Tyr722* 163 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMB3 ||c.2914C>T ||p.Arg972* 160 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMA3 ||c.2975delA ||p.Asn992Ilefs*47 161 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMA3 ||c.4815G>T ||p.Lys1605Asn 249 ||Kohlschutter-Tonz syndrome ||226750 ||ROGDI ||c.469C>T ||p.Arg157* 1113 ||Krabbe disease ||245200 ||GALC ||c.1630G>A ||p.Asp544Asn 1114 ||Krabbe disease ||245200 ||GALC ||c.1796T>G ||p.Ile599Ser 1144 ||Laron dwarfism ||262500 ||GHR ||c.11G>A ||p.Trp4* 1145 ||Laron dwarfism ||262500 ||GHR ||c.594A>G ||p.Glu198= 1146 ||Laron dwarfism ||262500 ||GHR ||c.686G>A ||p.Arg229His 1147 ||Laron dwarfism ||262500 ||GHR ||c.703C>T ||p.Arg235* 1148 ||Laron dwarfism ||262500 ||GHR ||c.744delT ||fs 851 ||Leber congenital amaurosis 4 ||604393 ||AIPL1 ||c.211G>T ||p.Val71Phe 141 ||Leber congenital amaurosis 1 ||204000 ||GUCY2D ||c.389delC ||p.Pro130Leufs*36 1029 ||Leber congenital amaurosis 8 ||613835 ||CRB1 ||c.4121_4130delCAACTCAGGG ||fs 1218 ||Leber congenital amaurosis 5 ||604537 ||LCA5 ||c.835C>T ||p.Gln279* 1293 ||Leber congenital amaurosis 2 ||204100 ||RPE65 ||c.95-2A>T ||Intron 195 ||Leber hereditary optic neuropathy ||535000 ||MT-ND6 ||c.14484T>C ||p.Met64Val 194 ||Leber hereditary optic neuropathy ||535000 ||MT-ND4 ||m.11778G>A ||p.Arg340His 1320 ||Leigh syndrome, due to COX deficiency ||256000 ||SURF1 ||c.312_321delTCTGCCAGCCinsAT ||fs 1322 ||Leigh syndrome, due to COX deficiency ||256000 ||SURF1 ||c.574_575insGTGC ||fs 269 ||Leigh syndrome, due to COX deficiency ||256000 ||SURF1 ||c.845_846delCT ||p.Ser282Cysfs*9 55 ||Leigh syndrome ||256000 ||C20ORF7 ||c.749 G>T ||p.Gly250Val 191 ||Leigh Syndrome ||256000 ||MT-ATP6 ||m.8993T>G ||p.Leu156Arg 237 ||LEOPARD syndrome 1 ||151100 ||PTPN11 ||c.1403C>T ||p.Thr468Met 238 ||LEOPARD syndrome 1 ||151100 ||PTPN11 ||c.836A>G ||p.Tyr279Cys 1063 ||Muscular dystrophy, limb-girdle, type 2B ||253601 ||DYSF ||c.2372C>G ||p.Pro791Arg 1064 ||Muscular dystrophy, limb-girdle, type 2B ||253601 ||DYSF ||c.2779delG ||fs 1065 ||Muscular dystrophy, limb-girdle, type 2B ||253601 ||DYSF ||c.4872_4876delGCCCGinsCCCC ||fs 1066 ||Muscular dystrophy, limb-girdle, type 2B ||253601 ||DYSF ||c.5038_5057+3ins23 ||fs 1067 ||Muscular dystrophy, limb-girdle, type 2B ||253601 ||DYSF ||c.5057+5G>A ||Intron 1068 ||Muscular dystrophy, limb-girdle, type 2B ||253601 ||DYSF ||c.5429G>A ||p.Arg1810Lys 265 ||Meleda disease ||248300 ||SLURP1 ||c.256G>A ||p.Gly86Arg 266 ||Meleda disease ||248300 ||SLURP1 ||c.256G>C ||p.Gly86Arg 169 ||Mandibuloacral dysplasia ||248370 ||LMNA ||c.1580G>A ||p.Arg527His 105 ||Marfan syndrome ||154700 ||FBN1 ||c.3037G>A ||p.Gly1013Arg 106 ||Marfan syndrome ||154700 ||FBN1 ||c.3037G>C ||p.Gly1013Arg 107 ||Marfan syndrome ||154700 ||FBN1 ||c.3410G>C ||p.Arg1137Pro 140 ||Meconium ileus ||614665 ||GUCY2C ||c.1160A>G ||p.Asp387Gly 57 ||Melanoma, cutaneous malignant, 2 ||600160 ||CDKN2A ||c.176T>G ||p.Val59Gly 199 ||MELAS syndrome ||540000 ||MT-TL1 ||m.3243A>G ||mtDNA 198 ||MERRF syndrome ||545000 ||MT-TK ||m.8344A>G ||mtDNA 24 ||Metachromatic leukodystrophy ||250100 ||ARSA ||c.576G>C ||p.Gln192His 192 ||Homocystinuria due to MTHFR deficiency ||236250 ||MTHFR ||c.474A>T ||p.Gly158Gly 1250 ||Complex I, mitochondrial respiratory chain, deficiency of ||252010 ||NDUFS6 ||c.344G>A ||p.Cys115Tyr 280 ||Mitochondrial complex III deficiency ||124000 ||UQCRQ ||c.134C>T ||p.Ser45Phe 297 ||Mitochondrial DNA depletion syndrome 5 ||612073 ||SUCLA2 ||c.789del43ins5 ||p.Asp263Glufs*1 83 ||Mitochondrial DNA depletion syndrome 3 ||251880 ||DGUOK ||c.255delA ||p.Ala86Profs*13 273 ||Mitochondrial DNA depletion syndrome 2 ||609560 ||TK2 ||c.635T>A ||p.Ile212Asn 1287 ||Mitochondrial myopathy and sideroblastic anemia 1 ||600462 ||PUS1 ||c.430C>T ||p.Arg116Trp 184 ||Megalencephalic leukoencephalopathy with subcortical cysts ||604004 ||MLC1 ||c.135insC ||p.Cys46Alafs*12 1229 ||Megalencephalic leukoencephalopathy with subcortical cysts ||604004 ||MLC1 ||c.176G>A ||p.Gly59Glu 1230 ||Megalencephalic leukoencephalopathy with subcortical cysts ||604004 ||MLC1 ||c.274C>T ||p.Pro92Ser 1231 ||Megalencephalic leukoencephalopathy with subcortical cysts ||604004 ||MLC1 ||c.278C>T ||p.Ser93Leu 859 ||Metachromatic leukodystrophy ||250100 ||ARSA ||c.1136C>T ||p.Pro379Leu 860 ||Metachromatic leukodystrophy ||250100 ||ARSA ||c.1283C>T ||p.Pro428Leu 861 ||Metachromatic leukodystrophy ||250100 ||ARSA ||c.465+1G>A ||Intron 863 ||Metachromatic leukodystrophy ||250100 ||ARSA ||c.827C>T ||p.Thr276Met 1165 ||Mucolipidosis III gamma ||252605 ||GNPTG ||c.499insC ||fs 1226 ||Mucolipidosis IV ||252650 ||MCOLN1 ||c.406-2A>G ||Intron 1227 ||Mucolipidosis IV ||252650 ||MCOLN1 ||Large deletion ||Large deletion 1232 ||Molybdenum cofactor deficiency, type A ||252150 ||MOCS1 ||c.722delT ||fs 1233 ||Molybdenum cofactor deficiency, type A ||252150 ||MOCS1 ||c.971G>A ||p.GLY324GLU 1059 ||Hypotrichosis, localized, autosomal recessive ||607903 ||DSG4 ||c.216+1G>T ||Intron 1060 ||Hypotrichosis, localized, autosomal recessive ||607903 ||DSG4 ||c.763delT ||fs 1061 ||Hypotrichosis, localized, autosomal recessive ||607903 ||DSG4 ||c.800C>G ||p.Pro267Arg 1062 ||Hypotrichosis, localized, autosomal recessive ||607903 ||DSG4 ||c.865C>T ||p.Arg289* 892 ||Maple syrup urine disease, type Ia ||248600 ||BCKDHA ||c.859C>T ||p.Arg287* 893 ||Maple syrup urine disease, type Ib ||248600 ||BCKDHB ||c.1016C>T ||p.Ser289Leu 894 ||Maple syrup urine disease, type Ib ||248600 ||BCKDHB ||c.1114G>T ||p.Glu372* 895 ||Maple syrup urine disease, type Ib ||248600 ||BCKDHB ||c.548G>C ||p.Arg183Pro 896 ||Maple syrup urine disease, type Ib ||248600 ||BCKDHB ||c.832G>A ||p.Gly278Ser 1051 ||Maple syrup urine disease, type II ||248600 ||DBT ||c.581C>G ||p.Ser194* 1052 ||Maple syrup urine disease, type II ||248600 ||DBT ||Large deletion ||Large deletion 1057 ||Maple syrup urine disease, type III ||248600 ||DLD ||c.105insA ||fs 1058 ||Maple syrup urine disease, type III ||248600 ||DLD ||c.685G>T ||p.Gly229Cys 115 ||Muenke syndrome ||602849 ||FGFR3 ||c.749C>G ||p.Pro250Arg 224 ||Multiple congenital anomalies-hypotonia-seizures syndrome 1 ||614080 ||PIGN ||c.2126G>A ||p.Arg709Gln 277 ||Mitochondrial DNA depletion syndrome 1 ||603041 ||TYMP ||c.433G>A ||p.Gly145Arg 301 ||Inclusion body myopathy-3 ||605637 ||MYH2 ||c.2400delG ||p.Phe801SerfsX28 1251 ||Nemaline myopathy 2, autosomal recessive ||256030 ||NEB ||Large deletion ||fs 155 ||Nephronophthisis 2, infantile ||602088 ||INVS ||c.2719C>T ||p.Arg907* 215 ||Nephrotic syndrome, type 2 ||600995 ||NPHS2 ||c.412C>T ||p.Arg138* 212 ||Neurofibromatosis, type 1 ||162200 ||NF1 ||c.1541_1542delAG ||p.Gln514Argfs*43 213 ||Neurofibromatosis, type 1 ||162200 ||NF1 ||c.5839C>T ||p.Arg1947* 1315 ||Niemann-Pick disease, type A ||257200 ||SMPD1 ||c.1493G>T ||p.Arg498Leu 1316 ||Niemann-Pick disease, type A ||257200 ||SMPD1 ||c.573delT ||fs 1317 ||Niemann-Pick disease, type A ||257200 ||SMPD1 ||c.911T>C ||p.Leu304Pro 1318 ||Niemann-Pick disease, type A ||257200 ||SMPD1 ||c.996delC ||fs 1319 ||Niemann-Pick disease, type B ||607616 ||SMPD1 ||c.1828_1830delCGC ||p.Arg610del 858 ||Glycine encephalopathy ||605899 ||AMT ||c.125A>G ||p.His42Arg 1163 ||Glycine encephalopathy ||605899 ||GLDC ||c.2405C>T ||p.Ala802Val 139 ||Glycine encephalopathy ||605899 ||GLDC ||c.2607C>A ||p.Pro869= 239 ||Noonan syndrome 1 ||163950 ||PTPN11 ||c.922A>G ||p.Asn308Asp 240 ||Noonan syndrome 1 ||163950 ||PTPN11 ||c.923A>G ||p.Asn308Ser 278 ||Albinism, oculocutaneous, type I ||203100 ||TYR ||c.1037-7T>A ||Intron 279 ||Albinism, oculocutaneous, type I ||203100 ||TYR ||c.649delC ||p.Arg217Glyfs*9 218 ||Albinism, oculocutaneous, type II ||203200 ||OCA2 ||c.2372_2373delTC ||p.Val791Glyfs*58 268 ||Osteopetrosis, autosomal recessive 8 ||615085 ||SNX10 ||c.152G>A ||p.Arg51Gln 271 ||Osteopetrosis, autosomal recessive 1 ||259700 ||TCIRG1 ||c.1331G>T ||p.Arg444Leu 1296 ||Pontocerebellar hypoplasia type 2D ||613811 ||SEPSECS ||c.1001A>G ||p.Tyr334Cys 1297 ||Pontocerebellar hypoplasia type 2D ||613811 ||SEPSECS ||c.715G>A ||p.Ala239Thr 292 ||Leukodystrophy, hypomyelinating, 3 ||260600 ||AIMP1 ||c.292_293delCA ||p.Gln98Valfs*30 154 ||Leukodystrophy, hypomyelinating, 4 ||612233 ||HSPD1 ||c.86A>G ||p.Asp29Gly 1302 ||Pendred syndrome ||274600 ||SLC26A4 ||c.1001G>T ||p.Gly334Val 1303 ||Pendred syndrome ||274600 ||SLC26A4 ||c.1151A>G ||p.Glu384Gly 1304 ||Pendred syndrome ||274600 ||SLC26A4 ||c.1198delT ||fs 1305 ||Pendred syndrome ||274600 ||SLC26A4 ||c.1246A>C ||p.Thr416Pro 1306 ||Pendred syndrome ||274600 ||SLC26A4 ||c.1341+1delG ||fs 1307 ||Pendred syndrome ||274600 ||SLC26A4 ||c.2000T>G ||p.Phe667Cys 1308 ||Pendred syndrome ||274600 ||SLC26A4 ||c.2168A>G ||p.His723Arg 1309 ||Pendred syndrome ||274600 ||SLC26A4 ||c.349C>T ||p.Leu117Phe 1310 ||Pendred syndrome ||274600 ||SLC26A4 ||c.707T>C ||p.Leu236Pro 1311 ||Pendred syndrome ||274600 ||SLC26A4 ||c.716T>A ||p.Val239Asp 839 ||Hyperinsulinemic hypoglycemia, familial, 1 ||256450 ||ABCC8 ||c.3989-9G>A ||Intron 840 ||Hyperinsulinemic hypoglycemia, familial, 1 ||256450 ||ABCC8 ||c.4159_4161delTTC ||p.Phe1387del 841 ||Hyperinsulinemic hypoglycemia, familial, 1 ||256450 ||ABCC8 ||c.560T>A ||p.Val187Asp 219 ||Phenylketonuria ||261600 ||PAH ||c.722G>A ||p.Arg241His 1263 ||Phenylketonuria ||261600 ||PAH ||c.1045T>C ||p.Ser349Pro 1264 ||Phenylketonuria ||261600 ||PAH ||c.1066-11G>A ||Intron 1265 ||Phenylketonuria ||261600 ||PAH ||c.1208C>T ||p.Ala403Val 1266 ||Phenylketonuria ||261600 ||PAH ||c.1222C>T ||p.Arg408Trp 1267 ||Phenylketonuria ||261600 ||PAH ||c.1315+1G>A ||Intron 1268 ||Phenylketonuria ||261600 ||PAH ||c.143T>C ||p.Leu48Ser 1269 ||Phenylketonuria ||261600 ||PAH ||c.165delT ||fs 1270 ||Phenylketonuria ||261600 ||PAH ||c.165T>G ||p.Phe55Leu 1271 ||Phenylketonuria ||261600 ||PAH ||c.441+5G>T ||Intron 1272 ||Phenylketonuria ||261600 ||PAH ||c.473G>A ||p.Arg158Gln 1273 ||Phenylketonuria ||261600 ||PAH ||c.533A>G ||p.Glu178Gly 1274 ||Phenylketonuria ||261600 ||PAH ||c.689T>C ||p.Val230Ala 1275 ||Phenylketonuria ||261600 ||PAH ||c.754C>T ||p.Arg252Trp 1276 ||Phenylketonuria ||261600 ||PAH ||c.782G>A ||p.Arg261Gln 1277 ||Phenylketonuria ||261600 ||PAH ||c.842C>T ||p.Pro281Leu 1278 ||Phenylketonuria ||261600 ||PAH ||c.898G>T ||p.Ala300Ser 852 ||Autoimmune polyendocrinopathy syndrome , type I ||240300 ||AIRE ||c.1163_1164insA ||p.Met388fs*35 853 ||Autoimmune polyendocrinopathy syndrome , type I ||240300 ||AIRE ||c.247A>G ||p.Lys83Glu 854 ||Autoimmune polyendocrinopathy syndrome , type I ||240300 ||AIRE ||c.254A>G ||p.Tyr85Cys 855 ||Autoimmune polyendocrinopathy syndrome , type I ||240300 ||AIRE ||c.769C>T ||p.Arg257* 856 ||Autoimmune polyendocrinopathy syndrome , type I ||240300 ||AIRE ||c.967_979delCTGTCCCCTCCGC ||p.Cys322fs*372 1111 ||Glycogen storage disease II ||232300 ||GAA ||c.1935C>A ||p.Asp645Glu 1112 ||Glycogen storage disease II ||232300 ||GAA ||c.-32-13T>G ||5' UTR 290 ||Glycogen storage disease II ||232300 ||GAA ||c.1064T>C ||p.Leu355Pro 127 ||Glycogen storage disease II ||232300 ||GAA ||c.1210G>A ||p.Asp404Asn 288 ||Glycogen storage disease II ||232300 ||GAA ||c.670C>T ||p.Arg224Trp 250 ||Ciliary dyskinesia, primary, 12 ||612650 ||RSPH9 ||c.804_806delGAA ||p.Lys268del 93 ||Ciliary dyskinesia, primary, 9 ||612444 ||DNAI2 ||c.1304G>A ||p.Trp435* 94 ||Ciliary dyskinesia, primary, 9 ||612444 ||DNAI2 ||c.1494+1G>A ||Intron 95 ||Ciliary dyskinesia, primary, 9 ||612444 ||DNAL1 ||c.449A>G ||p.Asn150Ser 231 ||Epilepsy, progressive myoclonic 1B ||612437 ||PRICKLE1 ||c.311G>A ||p.Arg104Gln 286 ||Spondyloepiphyseal dysplasia tarda with progressive arthropathy ||208230 ||WISP3 ||c.536_537delGT ||p.Cys179* 221 ||Prolidase deficiency ||170100 ||PEPD ||c.1103T>G ||p.Leu368Arg 1282 ||Prolidase deficiency ||170100 ||PEPD ||c.605C>T ||p.Ser202Phe 222 ||Prolidase deficiency ||170100 ||PEPD ||c.634G>C ||p.Ala212Pro 890 ||Butyrylcholinesterase Deficiency ||177400 ||BCHE ||c.293A>G ||p.Asp98Gly 1033 ||Pycnodysostosis ||265800 ||CTSK ||c.990A>G ||p.*330Trp 229 ||Pyridoxamine 5'-phosphate oxidase deficiency ||610090 ||PNPO ||c.284G>A ||p.Arg95His 264 ||Renal glucosuria ||233100 ||SLC5A2 ||c.962A>G ||p.Lys321Arg 220 ||Renal hypoplasia, isolated ||191830 ||PAX2 ||c.76insG ||p.Val26Glyfs*28 1070 ||Retinitis pigmentosa 25 ||602772 ||EYS ||c.1211insA ||fs 1054 ||Retinitis pigmentosa 59 ||613861 ||DHDDS ||c.124A>G ||p.Lys42Glu 1081 ||Retinitis pigmentosa 28 ||606068 ||FAM161A ||c.1309A>T ||p.Arg437* 1082 ||Retinitis pigmentosa 28 ||606068 ||FAM161A ||c.1355_1356delCA ||p.Thr452Serfs*3 1334 ||Retinitis pigmentosa 14 ||600132 ||TULP1 ||c.1495+2insT ||Intron 1083 ||Retinitis pigmentosa 28 ||606068 ||FAM161A ||c.1567C>T ||p.Arg523* 1084 ||Retinitis pigmentosa 28 ||606068 ||FAM161A ||c.1618C>T ||p.Arg540* 1084 ||Retinitis pigmentosa 28 ||606068 ||FAM161A ||c.1618C>T ||p.Arg596* 1281 ||Retinitis pigmentosa 57 ||613582 ||PDE6G ||c.187+1G>T ||Intron 902 ||Retinitis pigmentosa 26 ||608380 ||CERKL ||c.238+1G>A ||Intron 293 ||Retinitis pigmentosa 64 ||614500 ||C8ORF37 ||c.545A>G ||p.Gln182Arg 1286 ||Retinitis pigmentosa 36 ||610599 ||PRCD ||c.64C>T ||p.Arg22* 100 ||Retinitis pigmentosa 25 ||602772 ||EYS ||c.8155_8156delCA ||p.His2719Tyrfs*27 282 ||Rickets, vitamin D-resistant, type IIA ||277440 ||VDR ||c.885C>A ||p.Tyr295* 261 ||Hypophosphatemic rickets with hypercalciuria ||241530 ||SLC34A3 ||c.228delC ||p.Cys77Alafs*75 251 ||Minicore myopathy with external ophthalmoplegia ||255320 ||RYR1 ||c.3263A>G ||p.Tyr1088Cys 294 ||Sandhoff disease ||268800 ||HEXB ||c.1082+5G>A ||Intron 1298 ||Mucopolysaccharidosis type IIIA (Sanfilippo A) ||252900 ||SGSH ||c.1093C>T ||p.Gln365* 1299 ||Mucopolysaccharidosis type IIIA (Sanfilippo A) ||252900 ||SGSH ||c.1298G>A ||p.Arg433Gln 1300 ||Mucopolysaccharidosis type IIIA (Sanfilippo A) ||252900 ||SGSH ||c.544C>T ||p.Arg182Cys 1301 ||Mucopolysaccharidosis type IIIA (Sanfilippo A) ||252900 ||SGSH ||c.812C>T ||p.Thr271Met 843 ||Acyl-CoA dehydrogenase, short-chain, deficiency of ||201470 ||ACADS ||c.319C>T ||p.Arg107Cys 844 ||Acyl-CoA dehydrogenase, short-chain, deficiency of ||201470 ||ACADS ||c.511C>T ||p.Arg171Trp 845 ||Acyl-CoA dehydrogenase, short-chain, deficiency of ||201470 ||ACADS ||c.625G>A ||p.Gly209Ser 242 ||Severe combined immunodeficiency, B cell-negative ||601457 ||RAG1 ||c.1361T>A ||p.Leu454Gln 244 ||Severe combined immunodeficiency, B cell-negative ||601457 ||RAG2 ||c.193G>T ||p.Asp65Tyr 245 ||Severe combined immunodeficiency, B cell-negative ||601457 ||RAG2 ||c.685C>T ||p.Arg229Trp 8 ||Severe combined immunodeficiency due to ADA deficiency ||102700 ||ADA ||c.703C>T ||p.Arg235Trp 9 ||Severe combined immunodeficiency due to ADA deficiency ||102700 ||ADA ||c.792G>A ||p.Trp264* 243 ||Severe combined immunodeficiency, B cell-negative ||601457 ||RAG2 ||c.104G>T ||p.Gly35Val 85 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.1054C>T ||p.Arg352Trp 86 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.1210C>T ||p.Arg404Cys 87 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.278C>T ||p.Thr93Met 88 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.452G>A ||p.Trp151* 89 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.452G>C ||p.Trp151Ser 90 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.453G>A ||p.Trp151* 91 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.964-1G>C ||Intron 92 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.976G>T ||p.Val326Leu 1203 ||Neuronopathy, distal hereditary motor, type VI ||604320 ||IGHMBP2 ||c.114delA ||fs 295 ||Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis ||614813 ||POC1A ||c.512T>C ||p.Leu171Pro 284 ||Pontocerebellar hypoplasia type 1A ||607596 ||VRK1 ||c.1072C>T ||p.Arg358* 82 ||Spondylometaepiphyseal dysplasia, short limb-hand type ||271665 ||DDR2 ||c.2254C>T ||p.Arg752Cys 1223 ||Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome ||601559 ||LIFR ||c.1601-1G>A ||Intron 165 ||Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome ||601559 ||LIFR ||c.2472_2476delTATGT ||p.Ser824Argfs*41 1 ||Surfactant metabolism dysfunction, pulmonary, 3 ||610921 ||ABCA3 ||c.316C>T ||p.Arg106* 1177 ||Tay-Sachs disease ||272800 ||HEXA ||c.1073+1G>A ||Intron 1178 ||Tay-Sachs disease ||272800 ||HEXA ||c.1274_1277insTATC ||fs 1179 ||Tay-Sachs disease ||272800 ||HEXA ||c.1306A>G ||p.Ile436Val 1180 ||Tay-Sachs disease ||272800 ||HEXA ||c.1351C>G ||p.Leu451Val 1181 ||Tay-Sachs disease ||272800 ||HEXA ||c.1421+1G>C ||Intron 1182 ||Tay-Sachs disease ||272800 ||HEXA ||c.1444G>A ||p.Glu482Lys 142 ||Tay-Sachs disease ||272800 ||HEXA ||c.496delC ||p.Arg166Alafs*33 1183 ||Tay-Sachs disease ||272800 ||HEXA ||c.509G>A ||p.Arg170Gln 1184 ||Tay-Sachs disease ||272800 ||HEXA ||c.532C>T ||p.Arg178Cys 1185 ||Tay-Sachs disease ||272800 ||HEXA ||c.533G>A ||p.Arg178His 1186 ||Tay-Sachs disease ||272800 ||HEXA ||c.533G>T ||p.Arg178Leu 1187 ||Tay-Sachs disease ||272800 ||HEXA ||c.540C>G ||p.Tyr180* 1188 ||Tay-Sachs disease ||272800 ||HEXA ||c.571-2A>G ||Intron 1189 ||Tay-Sachs disease ||272800 ||HEXA ||c.749G>T ||p.Gly250Val 1190 ||Tay-Sachs disease ||272800 ||HEXA ||c.805+1G>A ||Intron 1191 ||Tay-Sachs disease ||272800 ||HEXA ||c.805G>A ||p.Gly269Ser 143 ||Tay-Sachs disease ||272800 ||HEXA ||c.835T>C ||p.Ser279Pro 1192 ||Tay-Sachs disease ||272800 ||HEXA ||c.910_912delTTC ||p.Phe304del 116 ||Thanatophoric dysplasia, type I ||187600 ||FGFR3 ||c.742C>T ||p.Arg248Cys 117 ||Thanatophoric dysplasia, type II ||187601 ||FGFR3 ||c.1948A>G ||p.Lys650Glu 118 ||Thanatophoric dysplasia, type II ||187601 ||FGFR3 ||c.1949A>T ||p.Lys650Met 259 ||Thiamine-responsive megaloblastic anemia syndrome ||249270 ||SLC19A2 ||c.725delC ||p.Pro242Glnfs*18 1208 ||Glanzmann thrombasthenia ||273800 ||ITGB3 ||c.2031_2041delTGCAGTGAATT ||fs 1207 ||Glanzmann thrombasthenia ||273800 ||ITGA2B ||c.409-2_419delAGGCCTGCGCCCC ||fs 1209 ||Glanzmann thrombasthenia ||273800 ||ITGB3 ||c.428T>G ||p.Leu143Trp 1210 ||Glanzmann thrombasthenia ||273800 ||ITGB3 ||Large deletion ||Large deletion 1074 ||Thrombophilia due to thrombin defect ||188050 ||F2 ||3' UTR ||3' UTR 101 ||Thrombophilia due to thrombin defect ||188050 ||F2 ||c.*96C>T ||3' UTR 1075 ||Thrombophilia due to activated protein C resistance ||188055 ||F5 ||c.1601G>A ||p.Arg534Gln 1234 ||Thromboembolism, susceptibility to ||188050 ||MTHFR ||c.665C>T ||p.Ala222Val 1078 ||Tyrosinemia, type I ||276700 ||FAH ||c.1062+5G>A ||Intron 103 ||Tyrosinemia, type I ||276700 ||FAH ||c.554-1G>T ||Intron 1079 ||Tyrosinemia, type I ||276700 ||FAH ||c.782C>T ||p.Pro261Leu 1080 ||Tyrosinemia, type I ||276700 ||FAH ||c.786G>A ||p.Trp262* 302 ||Tyrosinemia, type III ||276710 ||HPD ||c.415-1G>A ||Intron 102 ||Tyrosinemia, type I ||276700 ||FAH ||c.192G>T ||p.Gln64His 104 ||Tyrosinemia, type I ||276700 ||FAH ||c.707-1G>C ||Intron 281 ||Usher syndrome, type 1C ||276904 ||USH1C ||c.1220delG ||p.Gly407Glufs*58 1241 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.1190C>A ||p.Ala397Asp 1242 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.1996C>T ||p.Arg666* 1243 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.2187+1G>A ||Intron 1244 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.2476G>A ||p.Ala826Thr 1245 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.470+1G>A ||Intron 1246 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.5581C>T ||p.Arg1861* 1247 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.6196delC ||fs 1248 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.640G>A ||p.Gly214Arg 1279 ||Usher syndrome, type 1F ||602083 ||PCDH15 ||c.5601_5603delAAC ||p.Thr1867_Thr1868delinsThr 1280 ||Usher syndrome, type 1F ||602083 ||PCDH15 ||c.733C>T ||p.Arg245* 1339 ||Usher syndrome, type 2A ||276901 ||USH2A ||c.1000C>T ||p.Arg334Trp 1340 ||Usher syndrome, type 2A ||276901 ||USH2A ||c.12067-2A>G ||Intron 1341 ||Usher syndrome, type 2A ||276901 ||USH2A ||c.2209C>T ||p.Arg737* 1342 ||Usher syndrome, type 2A ||276901 ||USH2A ||c.236_239insGTAC ||fs 1343 ||Usher syndrome, type 2A ||276901 ||USH2A ||c.4544C>T ||p.Thr1515Met 1344 ||Usher syndrome, type 2A ||276901 ||USH2A ||c.5519G>T ||p.Gly1840Val 1021 ||Usher syndrome, type 3A ||606397 ||CLRN1 ||c.144T>G ||p.Asn48Lys 1022 ||Usher syndrome, type 3A ||606397 ||CLRN1 ||c.528T>G ||p.Tyr176* 899 ||Ventricular tachycardia, catecholaminergic polymorphic, 2 ||114251 ||CASQ2 ||c.919G>C ||p.Asp307His 846 ||Acyl-CoA dehydrogenase, Very long-chain, deficiency of ||201475 ||ACADVL ||c.799_802delGTTA ||fs 121 ||Muscular dystrophy-dystroglycanopathy, type A, 4 ||253800 ||FKTN ||c.1167insA ||p.Phe390Ilefs*14 880 ||Wilson disease ||277900 ||ATP7B ||c.1340_1343delAAAC ||fs 881 ||Wilson disease ||277900 ||ATP7B ||c.1639delC ||fs 28 ||Wilson disease ||277900 ||ATP7B ||c.2293G>A ||p.Asp765Asn 883 ||Wilson disease ||277900 ||ATP7B ||c.2333G>T ||p.Arg778Leu 884 ||Wilson disease ||277900 ||ATP7B ||c.2337G>A ||p.Trp779* 885 ||Wilson disease ||277900 ||ATP7B ||c.2906G>A ||p.Arg969Gln 886 ||Wilson disease ||277900 ||ATP7B ||c.3207C>A ||p.His1069Gln 29 ||Wilson disease ||277900 ||ATP7B ||c.3402delC ||p.Ala1135Glnfs*13 887 ||Wilson disease ||277900 ||ATP7B ||c.3649_3654delGTTCTG ||fs 888 ||Wilson disease ||277900 ||ATP7B ||c.845delT ||fs 285 ||Wiskott-Aldrich syndrome ||301000 ||WAS ||c.119G>T ||p.Gly40Val 166 ||Wolman disease ||278000 ||LIPA ||c.260G>T ||p.Gly87Val 1224 ||Wolman disease ||278000 ||LIPA ||c.398delC ||fs 81 ||Woodhouse-Sakati syndrome ||241080 ||DCAF17 ||c.436delC ||p.Ala147Hisfs*9 230 ||Xeroderma pigmentosum, variant type ||278750 ||POLH ||c.522G>T ||p.Trp174Cys 287 ||Xeroderma pigmentosum, group C ||278720 ||XPC ||c.566_567delAT ||p.Tyr189Serfs*10 1283 ||Peroxisome biogenesis disorder 1A (Zellweger) ||214100 ||PEX1 ||c.2097insT ||fs 1284 ||Peroxisome biogenesis disorder 1A (Zellweger) ||214100 ||PEX1 ||c.2528G>A ||p.Gly843Asp 1285 ||Peroxisome biogenesis disorder 5A (Zellweger) ||614866 ||PEX2 ||c.550delC ||p.R184fs*7