סקר גנטי לנשאות מחלות תורשתיות - סקר מורחב

מתוך Genopedia - פרופ' מוטי שוחט

Mutations ID |Phenotype Name |Omim Number |Gene |c.Name |p.Name 1035 |Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency |202010 |CYP11B1 |c.1342C>T |p.Arg448Cys 1036 |Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency |202010 |CYP11B1 |c.1343G>A |p.Arg448His 1037 |Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency |202010 |CYP11B1 |c.1390_1392insCTG |fs 1040 |Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency |201910 |CYP21A2 |c.1360C>T |p.Pro454Ser 74 |Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency |201910 |CYP21A2 |c.293-13A/C>G |Intron 1041 |Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency |201910 |CYP21A2 |c.332_339delGAGACTAC |fs 79 |Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency |201910 |CYP21A2 |c.719T>A |p.Met240Lys 223 |Phosphoglycerate dehydrogenase deficiency |601815 |PHGDH |c.1468G>A |p.Val490Met 1235 |Abetalipoproteinemia |200100 |MTTP |c.2593G>T |p.Gly865* 1236 |Abetalipoproteinemia |200100 |MTTP |c.307A>T |p.Lys103* 1237 |Abetalipoproteinemia |200100 |MTTP |c.62-2A>G |Intron 110 |Achondroplasia |100800 |FGFR3 |c.1138G>A |p.Gly380Arg 111 |Achondroplasia |100800 |FGFR3 |c.1138G>C |p.Gly380Arg 68 |Achromatopsia-2 |216900 |CNGA3 |c.1585G>A |p.Val529Met 263 |Acrodermatitis enteropathica |201100 |SLC39A4 |c.1223delC |p.Leu410Serfs*73 1331 |Liver failure, transient infantile |613070 |TRMU |c.229T>C |p.Tyr77His 842 |Adrenoleukodystrophy |300100 |ABCD1 |c.686T>C |p.Leu229Pro 136 |Adult i phenotype with congenital cataract |110800 |GCNT2 |c.977G>A |p.Trp328* 1335 |Albinism, oculocutaneous, type I |203100 |TYR |c.1118C>A |p.Thr373Lys 1337 |Albinism, oculocutaneous, type I |203100 |TYR |c.140G>A |p.Gly47Asp 1338 |Albinism, oculocutaneous, type I |203100 |TYR |c.149C>G |p.Ser50* 255 |Emphysema-cirrhosis, due to AAT deficiency |613490 |SERPINA1 |c.1096G>A |p.Glu366Lys 256 |Emphysema-cirrhosis, due to AAT deficiency |613490 |SERPINA1 |c.863A>T |p.Glu288Val 1023 |Alport syndrome |301050 |COL4A5 |c.4691G>C |p.Cys1564Ser 1024 |Alport syndrome |301050 |COL4A5 |c.4946T>G |p.Leu1649Arg 185 |Thrombocytopenia, congenital amegakaryocytic |604498 |MPL |c.79+2T>A |Intron 109 |Apert syndrome |101200 |FGFR2 |c.758C>G |p.Pro253Arg 108 |Apert syndrome |101200 |FGFR2 |c.755C>G |p.Ser252Trp 20 |Alzheimer disease-2 |104310 |APOE |c.388T>C |p.Cys130Arg 21 |Alzheimer disease-2 |104310 |APOE |c.478C>T |p.Arg160Cys 864 |Argininosuccinic aciduria |207900 |ASL |c.346C>T |p.Gln116* 225 |Lethal congenital contractural syndrome 3 |611369 |PIP5K1C |c.757G>A |p.Asp253Asn 11 |Aspartylglucosaminuria |208400 |AGA |c.214T>C |p.Ser72Pro 872 |Ataxia-telangiectasia |208900 |ATM |c.103C>T |p.Arg35* 873 |Ataxia-telangiectasia |208900 |ATM |c.1339C>T |p.Arg447* 874 |Ataxia-telangiectasia |208900 |ATM |c.2839-579_2839-576del4 |Intron 875 |Ataxia-telangiectasia |208900 |ATM |c.3245_3247delATCinsTGAT |p.His1081Leufs*13 876 |Ataxia-telangiectasia |208900 |ATM |c.3576G>A |p.Lys1192Lys 27 |Ataxia-telangiectasia |208900 |ATM |c.368delA |p.Tyr123Leufs*6 877 |Ataxia-telangiectasia |208900 |ATM |c.5763-1050A>G |Intron 878 |Ataxia-telangiectasia |208900 |ATM |c.6672_6680delGGCTCTACGinsCTC |p.Met2224Ilefs*44 879 |Ataxia-telangiectasia |208900 |ATM |c.7241_7244delAAGC |p.Gln2414Leufs*2 147 |Atrichia with papular lesions |209500 |HR |c.2147delC |p.Pro716Glnfs*186 148 |Atrichia with papular lesions |209500 |HR |c.431delC |p.Pro144Lysfs*24 23 |Bardet-Biedl syndrome 3 |209900 |ARL6 |c.364C>T |p.Arg122* 889 |Bardet-Biedl syndrome 1 |209900 |BBS1 |c.1169T>G |p.Met390Arg 897 |Bardet-Biedl syndrome 10 |209900 |C12ORF58 |c.271insT |fs 30 |Bardet-Biedl syndrome 2 |209900 |BBS2 |c.224T>G |p.Val75Gly 31 |Bardet-Biedl syndrome 4 |209900 |BBS4 |c.884G>C |p.Arg295Pro 67 |Bartter syndrome, type 3 |607364 |CLCNKB |c.1313G>A |p.Arg438His 52 |Bartter syndrome, type 4a |602522 |BSND |c.28G>A |p.Gly10Ser 53 |Biotinidase deficiency |253260 |BTD |c.100G>A |p.Gly34Ser 54 |Biotinidase deficiency |253260 |BTD |c.1612C>T |p.Arg538Cys 156 |Blood group, Kell |110900 |KEL |c.578C>G |p.Thr193Arg 157 |Blood group, Kell |110900 |KEL |c.578C>T |p.Thr193Met 248 |Blood group, Rhesus |111690 |RHCE |c.676G>C |p.Pro226Ala 1291 |Bloom syndrome |210900 |RECQL3 |c.2207_2212delATCTGA |p.Tyr736_Thr738delinsSer 1292 |Bloom syndrome |210900 |RECQL3 |c.2407insT |fs 124 |Growth retardation, developmental delay, coarse facies, and early death |612938 |FTO |c.947G>A |p.Arg316Gln 99 |Branchiootorenal syndrome 1 |113650 |EYA1 |c.1475G>C |p.Arg492Pro 37 |Breast-ovarian cancer, familial, 1 |604370 |BRCA1 |c.181T>C |p.Cys61Arg 38 |Breast-ovarian cancer, familial, 1 |604370 |BRCA1 |c.181T>G |p.Cys61Gly 39 |Breast-ovarian cancer, familial, 1 |604370 |BRCA1 |c.2934T>G |p.Tyr978* 40 |Breast-ovarian cancer, familial, 1 |604370 |BRCA1 |c.4034delA |p.Glu1346Lysfs*20 41 |Breast-ovarian cancer, familial, 1 |604370 |BRCA1 |c.5123C>A |p.Ala1708Glu 42 |Breast-ovarian cancer, familial, 1 |604370 |BRCA1 |c.5123C>T |p.Ala1708Val 43 |Breast-ovarian cancer, familial, 1 |604370 |BRCA1 |c.5266insC |p.Gln1756Profs*74 46 |Breast-ovarian cancer, familial, 2 |612555 |BRCA2 |c.5946delT |p.Ser1982Argfs*22 47 |Breast-ovarian cancer, familial, 2 |612555 |BRCA2 |c.6275_6276delTT |p.Leu2092Profs*7 48 |Breast-ovarian cancer, familial, 2 |612555 |BRCA2 |c.67+1G>A |Intron 49 |Breast-ovarian cancer, familial, 2 |612555 |BRCA2 |c.67+1G>T |Intron 44 |Breast-ovarian cancer, familial, 1 |604370 |BRCA1 |c.68_69delAG |p.Glu23Valfs*17 50 |Breast-ovarian cancer, familial, 2 |612555 |BRCA2 |c.7007G>C |p.Arg2336Pro 51 |Breast-ovarian cancer, familial, 2 |612555 |BRCA2 |c.8537_8538delAG |p.Glu2846Glyfs*22 45 |Breast-ovarian cancer, familial, 1 |604370 |BRCA1 |c.981_982delAT |p.Cys328*fs 1347 |Brittle cornea syndrome |229200 |ZNF469 |c.5943delA |fs 1348 |Brittle cornea syndrome |229200 |ZNF469 |c.9531delG |fs 32 |Butyrylcholinesterase Deficiency |177400 |BCHE |c.1253G>T |p.Gly418Val 33 |Butyrylcholinesterase Deficiency |177400 |BCHE |c.1574A>T |p.Glu525Val 34 |Butyrylcholinesterase Deficiency |177400 |BCHE |c.1699G>A |p.Ala567Thr 35 |Butyrylcholinesterase Deficiency |177400 |BCHE |c.812C>T |p.Thr271Met 1294 |Tumoral calcinosis, familial, normophosphatemic |610455 |SAMD9 |c.1030C>T |p.Arg344* 1295 |Tumoral calcinosis, familial, normophosphatemic |610455 |SAMD9 |c.4483A>G |p.Lys1495Glu 128 |Tumoral calcinosis, hyperphosphatemic, familial |211900 |GALNT3 |c.1524+5G>A |Intron 865 |Canavan disease |271900 |ASPA |c.433-2A>G |Intron 866 |Canavan disease |271900 |ASPA |c.693C>A |p.Tyr231* 25 |Canavan disease |271900 |ASPA |c.693C>T |p.Tyr231= 868 |Canavan disease |271900 |ASPA |c.693T>A |p.Tyr231* 870 |Canavan disease |271900 |ASPA |c.854A>C |p.Glu285Ala 871 |Canavan disease |271900 |ASPA |c.914C>A |p.Ala305Glu 1025 |Carbamoylphosphate synthetase I deficiency |237300 |CPS1 |c.3265C>T |p.Arg1089Cys 197 |Cardiomyopathy, Hypertrophic |590035 |MT-TG |m.9997T>C |mtDNA 253 |Cardiomyopathy, dilated, 1GG |613642 |SDHA |c.1664G>A |p.Gly555Glu 69 |CPT deficiency, hepatic, type IA |255120 |CPT1A |c.1361A>G |p.Asp454Gly 296 |Carnitine-acylcarnitine translocase deficiency |212138 |SLC25A20 |c.713A>G |p.Gln238Arg 125 |Cataract, autosomal recessive congenital 2 |610019 |FYCO1 |c.1546C>T |p.Gln516* 267 |Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |609528 |SNAP29 |c.223delG |p.Val75Serfs*28 1034 |Chronic granulomatous disease |233690 |CYBA |c.171_172insG |p.Lys58Glufs*58 1249 |Chronic granulomatous disease due to deficiency of NCF-1 |233700 |NCF1 |c.579G>A |p.Trp193* 96 |Chondrodysplasia punctata, X-linked dominant |302960 |EBP |c.440G>A |p.Arg147His 1345 |Choreoacanthocytosis |200150 |VPS13A |c.6059delC |fs 1346 |Choreoacanthocytosis |200150 |VPS13A |Large deletion |Large deletion 56 |CD59 deficiency |107271 |CD59 |c.266G>A |p.Cys89Tyr 1257 |Insensitivity to pain, congenital, with anhidrosis |256800 |NTRK1 |c.1842_1843insT |fs 1259 |Insensitivity to pain, congenital, with anhidrosis |256800 |NTRK1 |c.2066C>T |p.Pro689Leu 216 |Insensitivity to pain, congenital, with anhidrosis |256800 |NTRK1 |c.207_208delTG |p.Glu70Alafs*16 97 |Cockayne syndrome, type B |133540 |ERCC6 |c.1034insT |p.Lys345Asnfs*24 1069 |Cockayne syndrome, type A |216400 |ERCC8 |c.966C>A |p.Tyr322* 18 |Adenomatous polyposis coli |175100 |APC |c.3920T>A |p.Ile1307Lys 19 |Adenomatous polyposis coli |175100 |APC |c.3949G>C |p.Glu1317Gln 227 |Colorectal cancer, hereditary nonpolyposis, type 4 |614337 |PMS2 |c.1970insA |p.Asn657Lysfs*7 228 |Colorectal cancer, hereditary nonpolyposis, type 4 |614337 |PMS2 |c.2192T>G |p.Lys731* 898 |C7 deficiency |610102 |C7 |c.1135G>C |p.Gly379Arg 283 |Spastic paraplegia 53, autosomal recessive |614898 |Vps37A |c.1146A>T |p.Lys382Asn 3 |Stargardt disease 1 |248200 |ABCA4 |c.3608G>A |p.Gly1203Glu 4 |Stargardt disease 1 |248200 |ABCA4 |c.4254-15del23 |Intron 5 |Stargardt disease 1 |248200 |ABCA4 |c.5460+1G>A |Intron 6 |Stargardt disease 1 |248200 |ABCA4 |c.5882G>A |p.Gly1961Glu 71 |Adrenal insufficiency, congenital, with 46XY sex reversal |613743 |CYP11A1 |c.644T>C |p.Phe215Ser 72 |Adrenal insufficiency, congenital, with 46XY sex reversal |613743 |CYP11A1 |c.694C>T |p.Arg232* 1038 |Hypoaldosteronism, congenital, due to CMO II deficiency |610600 |CYP11B2 |c.541C>T |p.Arg181Trp 119 |Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 |607155 |FKRP |c.160C>G |p.Arg54Gly 120 |Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 |607155 |FKRP |c.160C>T |p.Arg54Trp 1288 |Myasthenic syndrome, congenital |608931 |RAPSN |5' UTR |5' UTR 1289 |Myasthenic syndrome, congenital |608931 |RAPSN |5' UTR |5' UTR 1290 |Myasthenic syndrome, congenital |608931 |RAPSN |c.264C>A |p.Asn88Lys 1252 |Nephrotic syndrome, type 1 |256300 |NPHS1 |c.1138C>T |p.Gln380* 1253 |Nephrotic syndrome, type 1 |256300 |NPHS1 |c.121_122delCT |fs 214 |Nephrotic syndrome, type 1 |256300 |NPHS1 |c.2160insC |p.Cys721Leufs*5 1254 |Nephrotic syndrome, type 1 |256300 |NPHS1 |c.3325C>T |p.Arg1109* 126 |Neutropenia, severe congenital 4, autosomal recessive |612541 |G6PC3 |c.785G>A |p.Gly262Asp 1260 |3-methylglutaconic aciduria, type III |258501 |OPA3 |c.143-1G>C |Intron 1261 |3-methylglutaconic aciduria, type III |258501 |OPA3 |c.320_337del18 |p.Gln107_Glu113delinsGln 149 |Costello syndrome |218040 |HRAS |c.34G>A |p.Gly12Ser 150 |Costello syndrome |218040 |HRAS |c.34G>T |p.Gly12Cys 151 |Costello syndrome |218040 |HRAS |c.35G>A |p.Gly12Asp 152 |Costello syndrome |218040 |HRAS |c.35G>C |p.Gly12Ala 153 |Costello syndrome |218040 |HRAS |c.35G>T |p.Gly12Val 70 |CPT deficiency, hepatic, type II |600649 |CPT2 |c.1148T>A |p.Phe383Tyr 1026 |CPT deficiency, hepatic, type II |600649 |CPT2 |c.1238_1239delAG |p.Gln413=fs*8 1027 |CPT deficiency, hepatic, type II |600649 |CPT2 |c.149C>A |p.Pro50His 1028 |CPT deficiency, hepatic, type II |600649 |CPT2 |c.338C>T |p.Ser113Leu 234 |Creutzfeldt-Jakob disease |123400 |PRNP |c.598G>A |p.Glu200Lys 232 |Creutzfeldt-Jakob disease |123400 |PRNP |c.385A>G |p.Met129Val 233 |Creutzfeldt-Jakob disease |123400 |PRNP |c.532G>A |p.Asp178Asn 112 |Crouzon syndrome with acanthosis nigricans |612247 |FGFR3 |c.1172C>A |p.Ala391Glu 1048 |Cerebrotendinous xanthomatosis |213700 |CYP27A1 |c.1016C>T |p.Thr306Met 80 |Cerebrotendinous xanthomatosis |213700 |CYP27A1 |c.355delC |p.Arg119Glyfs*24 1049 |Cerebrotendinous xanthomatosis |213700 |CYP27A1 |c.819delT |fs 1050 |Cerebrotendinous xanthomatosis |213700 |CYP27A1 |c.845-1G>A |Intron 903 |Cystic fibrosis |219700 |CFTR |c.1000C>T |p.Arg334Trp 904 |Cystic fibrosis |219700 |CFTR |c.1013C>T |p.Thr338Ile 905 |Cystic fibrosis |219700 |CFTR |c.1040G>A |p.Arg347His 906 |Cystic fibrosis |219700 |CFTR |c.1040G>C |p.Arg347Pro 907 |Cystic fibrosis |219700 |CFTR |c.1040G>T |p.Arg347Leu 908 |Cystic fibrosis |219700 |CFTR |c.1055G>A |p.Arg352Gln 909 |Cystic fibrosis |219700 |CFTR |c.1079C>A |p.Thr360Ile 910 |Cystic fibrosis |219700 |CFTR |c.1090T>C |p.Ser364Pro 59 |Cystic fibrosis |219700 |CFTR |c.1155insTA |p.Asn386Ilefs*3 911 |Cystic fibrosis |219700 |CFTR |c.11C>A |p.Ser4* 912 |Cystic fibrosis |219700 |CFTR |c.1364C>A |p.Ala455Glu 913 |Cystic fibrosis |219700 |CFTR |c.1418delG |p.Gly473Glufs*54 914 |Cystic fibrosis |219700 |CFTR |c.1438G>T |p.Gly480Cys 915 |Cystic fibrosis |219700 |CFTR |c.1477C>T |p.Gln493* 916 |Cystic fibrosis |219700 |CFTR |c.1516A>G |p.Ile506Val 60 |Cystic fibrosis |219700 |CFTR |c.1519_1521delATC |p.Ile507del 917 |Cystic fibrosis |219700 |CFTR |c.1521_1523delCTT |p.Phe508del 918 |Cystic fibrosis |219700 |CFTR |c.1523T>G |p.Phe508Cys 919 |Cystic fibrosis |219700 |CFTR |c.1545_1546delTA |p.Tyr515* 920 |Cystic fibrosis |219700 |CFTR |c.1558G>T |p.Val520Phe 921 |Cystic fibrosis |219700 |CFTR |c.1572C>A |p.Cys524* 922 |Cystic fibrosis |219700 |CFTR |c.1585-1G>A |Intron 923 |Cystic fibrosis |219700 |CFTR |c.1624G>T |p.Gly542* 924 |Cystic fibrosis |219700 |CFTR |c.1645A>C |p.Ser549Arg 925 |Cystic fibrosis |219700 |CFTR |c.1646G>A |p.Ser549Asn 61 |Cystic fibrosis |219700 |CFTR |c.1646G>T |p.Ser549Ile 926 |Cystic fibrosis |219700 |CFTR |c.1647T>G |p.Ser549Arg 927 |Cystic fibrosis |219700 |CFTR |c.1652G>A |p.Gly551Asp 928 |Cystic fibrosis |219700 |CFTR |c.1654C>T |p.Gln552* 929 |Cystic fibrosis |219700 |CFTR |c.1657C>T |p.Arg553* 930 |Cystic fibrosis |219700 |CFTR |c.1675G>A |p.Ala559Thr 931 |Cystic fibrosis |219700 |CFTR |c.1679+1634A>G |Intron 932 |Cystic fibrosis |219700 |CFTR |c.1679G>C |p.Arg560Thr 933 |Cystic fibrosis |219700 |CFTR |c.1680-1G>A |Intron 934 |Cystic fibrosis |219700 |CFTR |c.1721C>A |p.Pro574His 935 |Cystic fibrosis |219700 |CFTR |c.1766+1G>A |Intron 936 |Cystic fibrosis |219700 |CFTR |c.1766+5G>T |Intron 937 |Cystic fibrosis |219700 |CFTR |c.178G>T |p.Glu60* 938 |Cystic fibrosis |219700 |CFTR |c.1817_1900del84 |p.Met607_Gln634del 939 |Cystic fibrosis |219700 |CFTR |c.1911delG |p.Gln637Hisfs*26 940 |Cystic fibrosis |219700 |CFTR |c.1923_1931del9insA |p.Ser641Argfs*5 941 |Cystic fibrosis |219700 |CFTR |c.1973_1985del13insAGAAA |p.Arg658Lysfs*4 942 |Cystic fibrosis |219700 |CFTR |c.1976delA |p.Asn659Ilefs*4 943 |Cystic fibrosis |219700 |CFTR |c.200C>T |p.Pro67Leu 944 |Cystic fibrosis |219700 |CFTR |c.2051_2052delAAinsG |p.Lys684Serfs*38 945 |Cystic fibrosis |219700 |CFTR |c.2052_2053insA |p.Gln685Thrfs*4 946 |Cystic fibrosis |219700 |CFTR |c.2052delA |p.Lys684Asnfs*38 947 |Cystic fibrosis |219700 |CFTR |c.2125C>T |p.Arg709* 948 |Cystic fibrosis |219700 |CFTR |c.2128A>T |p.Lys710* 949 |Cystic fibrosis |219700 |CFTR |c.2175_2176insA |p.Glu726Argfs*4 950 |Cystic fibrosis |219700 |CFTR |c.223C>T |p.Arg75* 951 |Cystic fibrosis |219700 |CFTR |c.2290C>T |p.Arg764* 952 |Cystic fibrosis |219700 |CFTR |c.233_234insT |p.Trp79Leufs*32 953 |Cystic fibrosis |219700 |CFTR |c.2424_2425insAT |p.Ser809Ilefs*13 954 |Cystic fibrosis |219700 |CFTR |c.254G>A |p.Gly85Glu 955 |Cystic fibrosis |219700 |CFTR |c.2619+1Tins |Intron 956 |Cystic fibrosis |219700 |CFTR |c.262_263delTT |p.Leu88Ilefs*22 63 |Cystic fibrosis |219700 |CFTR |c.2657+5G>A |Intron 958 |Cystic fibrosis |219700 |CFTR |c.2668C>T |p.Gln890* 959 |Cystic fibrosis |219700 |CFTR |c.273+1G>A |Intron 960 |Cystic fibrosis |219700 |CFTR |c.273+3A>C |Intron 961 |Cystic fibrosis |219700 |CFTR |c.2737_2738insG |p.Tyr913* 962 |Cystic fibrosis |219700 |CFTR |c.274-1G>A |Intron 963 |Cystic fibrosis |219700 |CFTR |c.274G>A |p.Glu92Lys 964 |Cystic fibrosis |219700 |CFTR |c.274G>T |p.Glu92* 965 |Cystic fibrosis |219700 |CFTR |c.2988+1G>A |Intron 64 |Cystic fibrosis |219700 |CFTR |c.2989-1G>A |Intron 966 |Cystic fibrosis |219700 |CFTR |c.3039delC |p.Pro1013=fs*10 967 |Cystic fibrosis |219700 |CFTR |c.3067_3072delATAGTG |p.Ile1023_Val1024del 968 |Cystic fibrosis |219700 |CFTR |c.313delA |p.Ile105Serfs*2 969 |Cystic fibrosis |219700 |CFTR |c.3196C>T |p.Arg1066Cys 970 |Cystic fibrosis |219700 |CFTR |c.3230T>C |p.Leu1077Pro 971 |Cystic fibrosis |219700 |CFTR |c.325_327delTATinsG |p.Tyr109Glyfs*4 972 |Cystic fibrosis |219700 |CFTR |c.3266G>A |p.Trp1089* 973 |Cystic fibrosis |219700 |CFTR |c.3276C>A |p.Tyr1092* 974 |Cystic fibrosis |219700 |CFTR |c.3276C>G |p.Tyr1092* 975 |Cystic fibrosis |219700 |CFTR |c.3292T>C |p.Trp1098Arg 976 |Cystic fibrosis |219700 |CFTR |c.3302T>A |p.Met1101Lys 977 |Cystic fibrosis |219700 |CFTR |c.343G>T |p.Glu115* 978 |Cystic fibrosis |219700 |CFTR |c.3454G>C |p.Asp1152His 979 |Cystic fibrosis |219700 |CFTR |c.3472C>T |p.Arg1158* 980 |Cystic fibrosis |219700 |CFTR |c.3484C>T |p.Arg1162* 981 |Cystic fibrosis |219700 |CFTR |c.349C>T |p.Arg117Cys 982 |Cystic fibrosis |219700 |CFTR |c.350G>A |p.Arg117His 983 |Cystic fibrosis |219700 |CFTR |c.3528delC |p.Thr1176=fs*16 984 |Cystic fibrosis |219700 |CFTR |c.3529A>T |p.Lys1177* 985 |Cystic fibrosis |219700 |CFTR |c.3535_3538delACCA |p.Thr1179Asnfs*12 986 |Cystic fibrosis |219700 |CFTR |c.3587C>G |p.Ser1196* 987 |Cystic fibrosis |219700 |CFTR |c.3600delA |p.Asp1201Metfs*10 988 |Cystic fibrosis |219700 |CFTR |c.3611G>A |p.Trp1204* 989 |Cystic fibrosis |219700 |CFTR |c.3612G>A |p.Trp1204* 990 |Cystic fibrosis |219700 |CFTR |c.3659delC |p.Thr1220Lysfs*8 991 |Cystic fibrosis |219700 |CFTR |c.366T>A |p.Tyr122* 992 |Cystic fibrosis |219700 |CFTR |c.3700A>G |p.Ile1234Val 993 |Cystic fibrosis |219700 |CFTR |c.3712C>T |p.Gln1238* 994 |Cystic fibrosis |219700 |CFTR |c.3717+12191C>T |Intron 65 |Cystic fibrosis |219700 |CFTR |c.3731G>A |p.Gly1244Glu 995 |Cystic fibrosis |219700 |CFTR |c.3744delA |p.Ser1248Arg=fs*11 996 |Cystic fibrosis |219700 |CFTR |c.3752G>A |p.Ser1251Asn 997 |Cystic fibrosis |219700 |CFTR |c.3764C>A |p.Ser1255* 998 |Cystic fibrosis |219700 |CFTR |c.3773_3774insT |p.Leu1258Phefs*7 999 |Cystic fibrosis |219700 |CFTR |c.3846G>A |p.Trp1282* 1000 |Cystic fibrosis |219700 |CFTR |c.3882_3885delTATT |p.Ile1295Phefs*32 1001 |Cystic fibrosis |219700 |CFTR |c.3909C>G |p.Asn1303Lys 1002 |Cystic fibrosis |219700 |CFTR |c.3937C>T |p.Gln1313* 1003 |Cystic fibrosis |219700 |CFTR |c.416A>T |p.His139Leu 1004 |Cystic fibrosis |219700 |CFTR |c.422C>A |p.Ala141Asp 1005 |Cystic fibrosis |219700 |CFTR |c.442delA |p.Ile148Leufs*5 1006 |Cystic fibrosis |219700 |CFTR |c.489+1G>T |Intron 1007 |Cystic fibrosis |219700 |CFTR |c.531delT |p.Ile177Metfs*12 1008 |Cystic fibrosis |219700 |CFTR |c.532G>A |p.Gly178Arg 1009 |Cystic fibrosis |219700 |CFTR |c.54-5817_c.273+10124del21081ins14 |p.Ser18Argfs*16 1010 |Cystic fibrosis |219700 |CFTR |c.579+1G>T |Intron 1011 |Cystic fibrosis |219700 |CFTR |c.579+5G>A |Intron 1012 |Cystic fibrosis |219700 |CFTR |c.580-1G>T |Intron 1013 |Cystic fibrosis |219700 |CFTR |c.617T>G |p.Leu206Trp 1014 |Cystic fibrosis |219700 |CFTR |c.675T>A |p.Cys225* 1015 |Cystic fibrosis |219700 |CFTR |c.803delA |p.Asn268Ilefs*17 1016 |Cystic fibrosis |219700 |CFTR |c.805_806delAT |p.Ile269Profs*4 1017 |Cystic fibrosis |219700 |CFTR |c.933_935delCTT |p.Phe312del 1018 |Cystic fibrosis |219700 |CFTR |c.948delT |p.Phe316Leufs*12 1019 |Cystic fibrosis |219700 |CFTR |c.988G>T |p.Gly330* 1030 |Cystinosis, nephropathic |219800 |CTNS |c.1015G>A |p.Gly339Arg 1031 |Cystinosis, nephropathic |219800 |CTNS |c.530A>C |p.Asn177Thr 1313 |Cystinuria |220100 |SLC7A9 |c.313G>A |p.Gly105Arg 1314 |Cystinuria |220100 |SLC7A9 |c.508G>A |p.Val170Met 1312 |Cystinuria |220100 |SLC3A1 |c.808C>T |p.Arg270* 1149 |Deafness, autosomal recessive 1A |220290 |GJB2 |c.101T>C |p.Met34Thr 1262 |Deafness, autosomal recessive 22 |607039 |OTOA |c.1025A>T |p.Asp356Val 1150 |Deafness, autosomal recessive 1A |220290 |GJB2 |c.109G>A |p.Val37Ile 1323 |Deafness, autosomal recessive 7 |600974 |TMC1 |c.1165C>T |p.Arg389* 1324 |Deafness, autosomal recessive 7 |600974 |TMC1 |c.1210T>C |p.Trp404Arg 1151 |Deafness, autosomal recessive 1A |220290 |GJB2 |c.167delT |p.Leu56Arg*fs 1325 |Deafness, autosomal recessive 7 |600974 |TMC1 |c.1810C>T |p.Arg604* 1326 |Deafness, autosomal recessive 7 |600974 |TMC1 |c.1939T>C |p.Ser647Pro 1152 |Deafness, autosomal recessive 1A |220290 |GJB2 |c.229T>C |p.Trp77Arg 1153 |Deafness, autosomal recessive 1A |220290 |GJB2 |c.-23+1G>A |Intron 1154 |Deafness, autosomal recessive 1A |220290 |GJB2 |c.230G>A |p.Trp77* 138 |Deafness, autosomal recessive 1A |220290 |GJB2 |c.231G>A |p.Trp77* 1155 |Deafness, autosomal recessive 1A |220290 |GJB2 |c.235delC |p.Leu79Cys*fs 1156 |Deafness, autosomal recessive 1A |220290 |GJB2 |c.269T>C |p.Leu90Pro 1240 |Deafness, autosomal recessive 30 |607101 |MYO3A |c.3126T>G |p.Tyr1042* 1157 |Deafness, autosomal recessive 1A |220290 |GJB2 |c.358_360delGAG |p.Glu120del 1158 |Deafness, autosomal recessive 1A |220290 |GJB2 |c.35delG |p.Gly12Val*fs 1159 |Deafness, autosomal recessive 1A |220290 |GJB2 |c.370C>T |p.Gln124* 210 |Deafness, autosomal recessive 3 |600316 |MYO15A |c.373_374delCG |p.Arg125Valfs*102 1053 |Deafness, autosomal recessive 59 |610220 |DFNB59 |c.406C>T |p.Arg136* 1238 |Deafness, autosomal recessive 3 |600316 |MYO15A |c.4240G>A |p.Glu1414Lys 170 |Deafness, autosomal recessive 77 |613079 |LOXHD1 |c.4714C>T |p.Arg1572* 1160 |Deafness, autosomal recessive 1A |220290 |GJB2 |c.51_62delCACCAGCATTGGinsA |fs 1161 |Deafness, autosomal recessive 1A |220290 |GJB2 |c.551G>C |p.Arg184Pro 1162 |Deafness, autosomal recessive 1A |220290 |GJB2 |c.71G>A |p.Trp24* 901 |Deafness, autosomal recessive 12 |601386 |CDH23 |c.7903G>T |p.Val2635Phe 1239 |Deafness, autosomal recessive 3 |600316 |MYO15A |c.8183G>A |p.Arg2728His 1330 |Deafness, autosomal recessive 8/10 |601072 |TMPRSS3 |c.989delA |fs 276 |Deafness, mitochondrial, modifier of |580000 |TRMU |c.28G>T |p.Ala10Ser 1225 |Combined factor V and VIII deficiency |227300 |LMAN1 |c.1149+2T>C |Intron 167 |Combined factor V and VIII deficiency |227300 |LMAN1 |c.89insG |p.Asp31Argfs*72 84 |Desmosterolosis |602398 |DHCR24 |c.307C>T |p.Arg103Cys 36 |Diaphanospondylodysostosis |608022 |BMPER |c.310C>T |p.Gln104* 1126 |Neuropathy, distal hereditary motor, type V |600794 |GARS |c.1738G>C |p.Gly580Arg 836 |Dubin-Johnson syndrome |237500 |ABCC2 |c.1031+4A>G |Intron 837 |Dubin-Johnson syndrome |237500 |ABCC2 |c.3449G>A |p.Arg1150His 838 |Dubin-Johnson syndrome |237500 |ABCC2 |c.3517A>T |p.Ile1173Phe 254 |Anemia, dyserythropoietic congenital, type II |224100 |SEC23B |c.325G>A |p.Glu109Lys 10 |Ehlers-Danlos syndrome, type VIIC |225410 |ADAMTS2 |c.673C>T |p.Gln225* 168 |Emery-Dreifuss muscular dystrophy 2, AD |181350 |LMNA |c.1580G>C |p.Arg527Pro 1255 |Enhanced S-cone syndrome |268100 |NR2E3 |c.119-2A>C |Intron 1256 |Enhanced S-cone syndrome |268100 |NR2E3 |c.932G>A |p.Arg311Gln 1217 |Epidermolysis bullosa, junctional, non-Herlitz type |226650 |LAMB3 |c.3247C>T |p.Gln1083* 1076 |Factor VII deficiency |227500 |F7 |c.1109G>T |p.Cys370Phe 300 |Factor VII deficiency |227500 |F7 |c.291+1G>C |Intron 1077 |Factor VII deficiency |227500 |F7 |c.911C>T |p.Ala304Val 1072 |Factor XI deficiency |612416 |F11 |c.403G>T |p.Glu135* 1073 |Factor XI deficiency |612416 |F11 |c.901T>C |p.Phe301Leu 200 |Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas |132600 |MUTYH |c.1014G>C |p.Gln338His 201 |Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas |132600 |MUTYH |c.1147delC |p.Ala385Profs*23 202 |Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas |132600 |MUTYH |c.1187G>A |p.Gly396Asp 203 |Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas |132600 |MUTYH |c.1227insGG |p.Glu410Glyfs*43 204 |Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas |132600 |MUTYH |c.1258C>A |p.Leu420Met 205 |Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas |132600 |MUTYH |c.1437_1439delGGA |p.Glu480del 206 |Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas |132600 |MUTYH |c.1477G>T |p.Val493Phe 207 |Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas |132600 |MUTYH |c.1544C>T |p.Ser515Phe 208 |Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas |132600 |MUTYH |c.536A>G |p.Tyr179Cys 209 |Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas |132600 |MUTYH |c.933+3A>C |p.Gly264Trpfs*7 1204 |Dysautonomia, familial |223900 |IKBKAP |c.2087G>C |p.Arg696Pro 1205 |Dysautonomia, familial |223900 |IKBKAP |c.2204+6T>C |Intron 1206 |Dysautonomia, familial |223900 |IKBKAP |c.2741C>T |p.Pro914Leu 171 |Familial Mediterranean fever, AR |249100 |MEFV |c.1105C>T |p.Pro369Ser 172 |Familial Mediterranean fever, AR |249100 |MEFV |c.1894G>A |p.Gly632Ser 173 |Familial Mediterranean fever, AR |249100 |MEFV |c.2040G>A |p.Met680Ile 174 |Familial Mediterranean fever, AR |249100 |MEFV |c.2040G>C |p.Met680Ile 175 |Familial Mediterranean fever, AR |249100 |MEFV |c.2080A>G |p.Met694Val 176 |Familial Mediterranean fever, AR |249100 |MEFV |c.2080A>T |p.Met694Leu 177 |Familial Mediterranean fever, AR |249100 |MEFV |c.2082G>A |p.Met694Ile 178 |Familial Mediterranean fever, AR |249100 |MEFV |c.2084A>G |p.Lys695Arg 179 |Familial Mediterranean fever, AR |249100 |MEFV |c.2084A>T |p.Lys695Met 180 |Familial Mediterranean fever, AR |249100 |MEFV |c.2177T>C |p.Val726Ala 181 |Familial Mediterranean fever, AR |249100 |MEFV |c.2230G>T |p.Ala744Ser 182 |Familial Mediterranean fever, AR |249100 |MEFV |c.2282G>A |p.Arg761His 183 |Familial Mediterranean fever, AR |249100 |MEFV |c.442G>C |p.Glu148Gln 1086 |Fanconi anemia, complementation group A |227650 |FANCA |c.2172_2173insG |fs 1087 |Fanconi anemia, complementation group A |227650 |FANCA |c.2574C>G |p.Ser858Arg 1088 |Fanconi anemia, complementation group A |227650 |FANCA |c.4275delT |fs 1089 |Fanconi anemia, complementation group A |227650 |FANCA |c.890_893delCTGG |fs 260 |Fanconi-Bickel syndrome |227810 |SLC2A2 |c.901C>T |p.Arg301* 1090 |Fanconi anemia, complementation group C |227645 |FANCC |c.1642C>T |p.Arg548* 1091 |Fanconi anemia, complementation group C |227645 |FANCC |c.1661T>C |p.Leu554Pro 1092 |Fanconi anemia, complementation group C |227645 |FANCC |c.37C>T |p.Gln13* 1093 |Fanconi anemia, complementation group C |227645 |FANCC |c.456+4A>T |Intron 1094 |Fanconi anemia, complementation group C |227645 |FANCC |c.553C>T |p.Arg185* 1095 |Fanconi anemia, complementation group C |227645 |FANCC |c.584A>T |p.Asp195Val 1096 |Fanconi anemia, complementation group C |227645 |FANCC |c.67delG |p.Asp23Ile*fs 1166 |Polymicrogyria, bilateral frontoparietal |606854 |GPR56 |c.1046G>C |p.Trp349Ser 1167 |Polymicrogyria, bilateral frontoparietal |606854 |GPR56 |c.1167+3G>C |Intron 1168 |Polymicrogyria, bilateral frontoparietal |606854 |GPR56 |c.1693C>T |p.Arg565Trp 1169 |Polymicrogyria, bilateral frontoparietal |606854 |GPR56 |c.739_745delCAGGACC |fs 246 |Fundus albipunctatus |136880 |RDH5 |c.160C>T |p.Arg54* 247 |Fundus albipunctatus |136880 |RDH5 |c.71_74delTGCC |p.Leu24Profs*36 1115 |Galactosemia |230400 |GALT |c.152G>A |p.Arg51Gln 1116 |Galactosemia |230400 |GALT |c.253-2A>G |Intron 1117 |Galactosemia |230400 |GALT |c.404C>T |p.Ser135Leu 1118 |Galactosemia |230400 |GALT |c.413C>T |p.Thr138Met 129 |Galactosemia |230400 |GALT |c.563A>G |p.Gln188Arg 129 |Galactosemia |230400 |GALT |c.563A>G |p.Gln188Arg 1120 |Galactosemia |230400 |GALT |c.584T>C |p.Leu195Pro 1121 |Galactosemia |230400 |GALT |c.626A>G |p.Tyr100Cys 1122 |Galactosemia |230400 |GALT |c.652C>T |p.Leu218= 1123 |Galactosemia |230400 |GALT |c.855G>T |p.Lys285Asn 1124 |Galactosemia |230400 |GALT |c.940A>G |p.Asn314Asp 1125 |Galactosemia |230400 |GALT |Large deletion |Large deletion 257 |Muscular dystrophy, limb-girdle, type 2C |253700 |SGCG |c.525delT |p.Phe175Leufs*20 1127 |Gaucher disease, type I |230800 |GBA |c.1226A>G |p.Asn409Ser 1128 |Gaucher disease, type I |230800 |GBA |c.1263_1317del55 |fs 1129 |Gaucher disease, type I |230800 |GBA |c.1294T>A |p.Trp432Arg 1130 |Gaucher disease, type I |230800 |GBA |c.1297G>T |p.Val433Leu 1131 |Gaucher disease, type I |230800 |GBA |c.1342G>C |p.Asp448His 1132 |Gaucher disease, type I |230800 |GBA |c.1448T>C |p.Leu483Pro 1133 |Gaucher disease, type I |230800 |GBA |c.1504C>T |p.Arg502Cys 1134 |Gaucher disease, type I |230800 |GBA |c.1505G>A |p.Arg502His 1135 |Gaucher disease, type I |230800 |GBA |c.1604G>A |p.Arg535His 1136 |Gaucher disease, type I |230800 |GBA |c.259C>T |p.Arg87Trp 133 |Gaucher disease, type I |230800 |GBA |c.84insG |p.Leu29Alafs*18 133 |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