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