סקר גנטי לנשאות מחלות תורשתיות - סקר מורחב
מתוך Genopedia - פרופ' מוטי שוחט
(הבדלים בין גרסאות)
גרסה מתאריך 20:18, 12 במאי 2014 (עריכה) Motti (שיחה | תרומות) (←בטרייה מורחבת של בדיקות לנשאות של מחלות תורשתיות הנבדקות כסקר לקראת היריון:) → עבור להשוואת הגרסאות הקודמת |
גרסה מתאריך 09:20, 14 במאי 2014 (עריכה) (ביטול) Motti (שיחה | תרומות) עבור להשוואת הגרסאות הבאה ← |
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שורה 1: | שורה 1: | ||
- | == בטרייה | + | == בטרייה מרחבת לבדיקות סקר גנטי לנשאות של מחלות תורשתיות הנבדקות לקראת היריון: == |
גרסה מתאריך 09:20, 14 במאי 2014
בטרייה מרחבת לבדיקות סקר גנטי לנשאות של מחלות תורשתיות הנבדקות לקראת היריון:
מספר סידורי | מחלה קלינית | מספר OMIM | גן | מוטציה בגן | מוטציה בחלבון | 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 | הערות. |
133 | Gaucher disease, type I | 230800 | GBA | c.84insG | p.Leu29Alafs*18 | הערות. |
135 | Glutaricaciduria, type I | 231670 | GCDH | c.1173delG | p.Asn392Metfs*9 | הערות. |
1139 | Glutaricaciduria, type I | 231670 | GCDH | c.1204C>T | p.Arg402Trp | הערות. |
1140 | Glutaricaciduria, type I | 231670 | GCDH | c.1247C>T | p.Thr416Ile | הערות. |
1141 | Glutaricaciduria, type I | 231670 | GCDH | c.1262C>T | p.Ala421Val | הערות. |
1142 | Glutaricaciduria, type I | 231670 | GCDH | c.301G>A | p.Gly101Arg | הערות. |
298 | Glutaric acidemia IIC | 231680 | ETFDH | c.1084G>A | p.Gly362Arg | הערות. |
262 | Glycogen storage disease Ib | 232220 | SLC37A4 | c.1042_1043delCT | p.Leu348Valfs*53 | הערות. |
241 | McArdle disease | 232600 | PYGM | c.632delG | p.Ser211Thrfs*84 | הערות. |
211 | Gray platelet syndrome | 139090 | NBEAL2 | c.2701C>T | p.Arg901* | הערות. |
1099 | Glycogen storage disease Ia | 232200 | G6PC | c.1039C>T | p.Gln347* | הערות. |
1100 | Glycogen storage disease Ia | 232200 | G6PC | c.247C>T | p.Arg83Cys | הערות. |
1101 | Glycogen storage disease Ia | 232200 | G6PC | c.248G>A | p.Arg83His | הערות. |
1102 | Glycogen storage disease Ia | 232200 | G6PC | c.380_381insTA | p.Tyr127delinsTyrThr*fs | הערות. |
1103 | Glycogen storage disease Ia | 232200 | G6PC | c.497T>G | p.Val166Gly | הערות. |
1104 | Glycogen storage disease Ia | 232200 | G6PC | c.508C>T | p.Arg170* | הערות. |
1105 | Glycogen storage disease Ia | 232200 | G6PC | c.562G>C | p.Gly188Arg | הערות. |
1106 | Glycogen storage disease Ia | 232200 | G6PC | c.648G>T | p.Leu216= | הערות. |
1107 | Glycogen storage disease Ia | 232200 | G6PC | c.724C>T | p.Gln242* | הערות. |
1108 | Glycogen storage disease Ia | 232200 | G6PC | c.79delC | p.Gln27Arg*fs | הערות. |
109 | Glycogen storage disease Ia | 232200 | G6PC | c.809G>T | p.Gly270Val | הערות. |
1110 | Glycogen storage disease Ia | 232200 | G6PC | c.979_981delTTC | p.Phe327del | הערות. |
134 | Glycogen storage disease IV | 232500 | GBE1 | c.986A>C | p.Tyr329Ser | הערות. |
847 | Glycogen storage disease III | 232400 | AGL | c.1222C>T | p.Arg408* | הערות. |
848 | Glycogen storage disease III | 232400 | AGL | c.4455delT | p.Leu1485=fs* | הערות. |
1032 | Haim-Munk syndrome | 245010 | CTSC | c.857A>G | p.Gln286Arg | הערות. |
144 | Hemochromatosis | 235200 | HFE | c.187C>G | p.His63Asp | הערות. |
145 | Hemochromatosis | 235200 | HFE | c.193A>T | p.Ser65Cys | הערות. |
146 | Hemochromatosis | 235200 | HFE | c.845G>A | p.Cys282Tyr | הערות. |
1172 | Sickle Cell Anemia | 603903 | HBB | c.19G>A | p.Glu7Gln | הערות. |
1173 | Sickle Cell Anemia | 603903 | HBB | c.20A>T | p.Glu7Val | הערות. |
1174 | Sickle Cell Anemia | 603903 | HBB | c.364G>A | p.Glu122Lys | הערות. |
1175 | Sickle Cell Anemia | 603903 | HBB | c.364G>C | p.Glu122Gln | הערות. |
1171 | Hemoglobin H disease, nondeletional | 613978 | HBA2 | c.427T>C | p.*143Gln | הערות. |
1176 | Sickle Cell Anemia | 603903 | HBB | c.79G>A | p.Glu27Lys | הערות. |
58 | Complement factor H deficiency | 609814 | CFH | c.3674A>T;3675_3699del24 | p.Tyr1225Phefs*4 | הערות. |
274 | Deafness, autosomal recessive 7 | 600974 | TMC1 | c.100C>T | p.Arg34* | הערות. |
196 | Deafness, nonsyndromic sensorineural, mitochondrial | 500008 | MT-RNR1 | m.1555A>G | mtDNA | הערות. |
857 | Megaloblastic anemia-1, Norwegian type | 261100 | AMN | c.208-2A>G | Intron | הערות. |
98 | Exostoses, multiple, type 1 | 133700 | EXT1 | c.1415T>A | p.Leu472* | הערות. |
303 | Colorectal cancer, hereditary nonpolyposis, type 2 | 609310 | MLH1 | c.1770_1771 delGA | p.Asp591* | הערות. |
186 | Colorectal cancer, hereditary nonpolyposis, type 1 | 120435 | MSH2 | c.1906G>C | p.Ala636Pro | הערות. |
188 | Colorectal cancer, hereditary nonpolyposis, type 5 | 609310 | MSH6 | c.3516_3519delAGTG | p.Arg1172Serfs*11 | הערות. |
189 | Colorectal cancer, hereditary nonpolyposis, type 5 | 609310 | MSH6 | c.3959_3962delCAAG | p.Ala1320Glufs*6 | הערות. |
190 | Colorectal cancer, hereditary nonpolyposis, type 5 | 609310 | MSH6 | c.3984insGTCA | p.Leu1330Valfs*12 | הערות. |
187 | Colorectal cancer, hereditary nonpolyposis, type 1 | 120435 | MSH2 | c.970_971delCA | p.Gln324Valfs*8 | הערות. |
272 | Spastic paraplegia 49, autosomal recessive | 615031 | TECPR2 | c.3416delT | p.Leu1139Argfs*75 | הערות. |
1213 | Epidermolysis bullosa, junctional, Herlitz type | 226700 | LAMB3 | c.1903C>T | p.Arg635* | הערות. |
1212 | Epidermolysis bullosa, junctional, Herlitz type | 226700 | LAMA3 | c.1981C>T | p.Arg661* | הערות. |
1214 | Epidermolysis bullosa, junctional, Herlitz type | 226700 | LAMB3 | c.3024delT | fs | הערות. |
1215 | Epidermolysis bullosa, junctional, Herlitz type | 226700 | LAMB3 | c.430C>T | p.Arg144* | הערות. |
1216 | Epidermolysis bullosa, junctional, Herlitz type | 226700 | LAMB3 | c.727C>T | p.Gln243* | הערות. |
1199 | Hermansky-Pudlak syndrome 6 | 614075 | HPS6 | c.1065insG | fs | הערות. |
1195 | Hermansky-Pudlak syndrome 3 | 614072 | HPS3 | c.1163+1G>A | Intron | הערות. |
1196 | Hermansky-Pudlak syndrome 3 | 614072 | HPS3 | c.1691+2T>G | Intron | הערות. |
1197 | Hermansky-Pudlak syndrome 3 | 614072 | HPS3 | c.2482-2A>G | Intron | הערות. |
1198 | Hermansky-Pudlak syndrome 3 | 614072 | HPS3 | Large deletion | Large deletion | הערות. |
1164 | Inclusion body myopathy, autosomal recessive | 600737 | GNE | c.2135T>C | p.Met712Thr | הערות. |
1194 | HMG-CoA lyase deficiency | 246450 | HMGCL | c.122G>A | p.Arg41Gln | הערות. |
252 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | 613845 | SARS2 | c.1169A>G | p.Asp390Gly | הערות. |
1200 | Mucopolysaccharidosis Ih | 607014 | IDUA | c.1205G>A | p.Trp402* | הערות. |
1201 | Mucopolysaccharidosis Ih | 607014 | IDUA | c.1598C>G | p.Pro533Arg | הערות. |
1202 | Mucopolysaccharidosis Ih | 607014 | IDUA | c.208C>T | p.Gln70* | הערות. |
1219 | Hypercholesterolemia, familial | 143890 | LDLR | c.2043C>A | p.Cys681* | הערות. |
1220 | Hypercholesterolemia, familial | 143890 | LDLR | c.652_654delGGT | p.Gly218del | הערות. |
1221 | Hypercholesterolemia, familial | 143890 | LDLR | c.681C>G | p.Asp227Glu | הערות. |
1222 | Hypercholesterolemia, familial | 143890 | LDLR | Large deletion | Large deletion | הערות. |
1055 | Hyperoxaluria, primary, type III | 613616 | DHDPSL | c.860G>T | p.Gly287Val | הערות. |
1056 | Hyperoxaluria, primary, type III | 613616 | DHDPSL | c.944_946delAGG | fs | הערות. |
849 | Hyperoxaluria, primary, type 1 | 259900 | AGXT | c.121G>A | p.Gly41Arg | הערות. |
850 | Hyperoxaluria, primary, type 1 | 259900 | AGXT | c.731T>C | p.Ile244Thr | הערות. |
12 | Hyperoxaluria, primary, type 1 | 259900 | AGXT | c.33insC | p.Lys12Glnfs*156 | הערות. |
13 | Hyperoxaluria, primary, type 1 | 259900 | AGXT | c.584T>G | p.Met195Arg | הערות. |
14 | Hyperoxaluria, primary, type 1 | 259900 | AGXT | c.697C>T | p.Arg233Cys | הערות. |
15 | Hyperoxaluria, primary, type 1 | 259900 | AGXT | c.727G>C | p.Asp243His | הערות. |
16 | Hyperoxaluria, primary, type 1 | 259900 | AGXT | c.837T>G | p.Ile279Met | הערות. |
17 | Hyperoxaluria, primary, type 1 | 259900 | AGXT | c.997A>T | p.Arg333* | הערות. |
113 | Hypochondroplasia | 146000 | FGFR3 | c.1620C>A | p.Asn540Lys | הערות. |
114 | Hypochondroplasia | 146000 | FGFR3 | c.1620C>G | p.Asn540Lys | הערות. |
7 | Hyperinsulinemic hypoglycemia, familial, 1 | 256450 | ABCC8 | c.2506C>T | p.Arg836* | הערות. |
158 | Hypogonadotropic hypogonadism 8 with or without anosmia | 614837 | KISS1R | c.305T>C | p.Leu102Pro | הערות. |
159 | Hypogonadotropic hypogonadism 8 with or without anosmia | 614837 | KISS1R | c.815T>C | p.Phe272Ser | הערות. |
1332 | Hypothyroidism, congenital, nongoitrous, 1 | 275200 | TSHR | c.1825C>T | p.Arg609* | הערות. |
1333 | Hypothyroidism, congenital, nongoitrous, 1 | 275200 | TSHR | c.1957C>G | p.Leu653Val | הערות. |
270 | Hypoparathyroidism-retardation-dysmorphism syndrome | 241410 | TBCE | .155_166delGCCACGAAGGGA | p.Ser52Thrfs*473 | הערות. |
291 | Hypophosphatasia, infantile | 241500 | ALPL | c.1348C>T | p.Arg450Cys | הערות. |
122 | Ichthyosis vulgaris | 146700 | FLG | c.1501C>T | p.Arg501* | הערות. |
123 | Ichthyosis vulgaris | 146700 | FLG | c.2282_2285delCAGT | p.Ser762Cysfs*36 | הערות. |
275 | Dystonia-1, torsion | 128100 | TOR1A | c.904_906delGAG | p.Glu302del | הערות. |
217 | Striatonigral degeneration, infantile | 271930 | NUP62 | c.1172A>C | p.Gln391Pro | הערות. |
1228 | Microcephaly, postnatal progressive, with seizures and brain atrophy | 613668 | MED17 | c.1112T>C | p.Leu371Pro | הערות. |
226 | Infantile neuroaxonal dystrophy 1 | 256600 | PLA2G6 | c.2070_2072delTGT | p.Val691del | הערות. |
258 | Sialic acid storage disorder, infantile | 269920 | SLC17A5 | c.983G>A | p.Gly328Glu | הערות. |
137 | Growth hormone deficiency, isolated, type IB | 262400 | GHRHR | c.1069C>T | p.Arg357Cys | הערות. |
299 | Growth hormone deficiency, isolated, type IA | 262400 | GH1 | c.456+5G>C | Intron | הערות. |
1211 | Isovaleric acidemia | 243500 | IVD | c.941C>T | p.Ala314Val | הערות. |
235 | Metaphyseal chondrodysplasia, Murk Jansen type | 156400 | PTH1R | c.1228A>C | p.Thr410Pro | הערות. |
236 | Metaphyseal chondrodysplasia, Murk Jansen type | 156400 | PTH1R | c.668A>G | p.His223Arg | הערות. |
1327 | Joubert syndrome 2 | 608091 | TMEM216 | c.218G>A | p.Arg73His | הערות. |
1328 | Joubert syndrome 2 | 608091 | TMEM216 | c.218G>T | p.Arg73Leu | הערות. |
1329 | Joubert syndrome 2 | 608091 | TMEM216 | c.230G>C | p.Gly77Ala | הערות. |
164 | Epidermolysis bullosa, junctional, Herlitz type | 226700 | LAMC2 | c.1756C>T | p.Arg586* | הערות. |
162 | Epidermolysis bullosa, junctional, Herlitz type | 226700 | LAMB3 | c.2166C>A | p.Tyr722* | הערות. |
163 | Epidermolysis bullosa, junctional, Herlitz type | 226700 | LAMB3 | c.2914C>T | p.Arg972* | הערות. |
160 | Epidermolysis bullosa, junctional, Herlitz type | 226700 | LAMA3 | c.2975delA | p.Asn992Ilefs*47 | הערות. |
161 | Epidermolysis bullosa, junctional, Herlitz type | 226700 | LAMA3 | c.4815G>T | p.Lys1605Asn | הערות. |
249 | Kohlschutter-Tonz syndrome | 226750 | ROGDI | c.469C>T | p.Arg157* | הערות. |
1113 | Krabbe disease | 245200 | GALC | c.1630G>A | p.Asp544Asn | הערות. |
1114 | Krabbe disease | 245200 | GALC | c.1796T>G | p.Ile599Ser | הערות. |
1144 | Laron dwarfism | 262500 | GHR | c.11G>A | p.Trp4* | הערות. |
1145 | Laron dwarfism | 262500 | GHR | c.594A>G | p.Glu198= | הערות. |
1146 | Laron dwarfism | 262500 | GHR | c.686G>A | p.Arg229His | הערות. |
1147 | Laron dwarfism | 262500 | GHR | c.703C>T | p.Arg235* | הערות. |
1148 | Laron dwarfism | 262500 | GHR | c.744delT | fs | הערות. |
851 | Leber congenital amaurosis 4 | 604393 | AIPL1 | c.211G>T | p.Val71Phe | הערות. |
141 | Leber congenital amaurosis 1 | 204000 | GUCY2D | c.389delC | p.Pro130Leufs*36 | הערות. |
1029 | Leber congenital amaurosis 8 | 613835 | CRB1 | c.4121_4130delCAACTCAGGG | fs | הערות. |
1218 | Leber congenital amaurosis 5 | 604537 | LCA5 | c.835C>T | p.Gln279* | הערות. |
1293 | Leber congenital amaurosis 2 | 204100 | RPE65 | c.95-2A>T | Intron | הערות. |
195 | Leber hereditary optic neuropathy | 535000 | MT-ND6 | c.14484T>C | p.Met64Val | הערות. |
194 | Leber hereditary optic neuropathy | 535000 | MT-ND4 | m.11778G>A | p.Arg340His | הערות. |
1320 | Leigh syndrome, due to COX deficiency | 256000 | SURF1 | c.312_321delTCTGCCAGCCinsAT | fs | הערות. |
1322 | Leigh syndrome, due to COX deficiency | 256000 | SURF1 | c.574_575insGTGC | fs | הערות. |
269 | Leigh syndrome, due to COX deficiency | 256000 | SURF1 | c.845_846delCT | p.Ser282Cysfs*9 | הערות. |
55 | Leigh syndrome | 256000 | C20ORF7 | c.749 G>T | p.Gly250Val | הערות. |
191 | Leigh Syndrome | 256000 | MT-ATP6 | m.8993T>G | p.Leu156Arg | הערות. |
237 | LEOPARD syndrome 1 | 151100 | PTPN11 | c.1403C>T | p.Thr468Met | הערות. |
238 | LEOPARD syndrome 1 | 151100 | PTPN11 | c.836A>G | p.Tyr279Cys | הערות. |
1063 | Muscular dystrophy, limb-girdle, type 2B | 253601 | DYSF | c.2372C>G | p.Pro791Arg | הערות. |
1064 | Muscular dystrophy, limb-girdle, type 2B | 253601 | DYSF | c.2779delG | fs | הערות. |
1065 | Muscular dystrophy, limb-girdle, type 2B | 253601 | DYSF | c.4872_4876delGCCCGinsCCCC | fs | הערות. |
1066 | Muscular dystrophy, limb-girdle, type 2B | 253601 | DYSF | c.5038_5057+3ins23 | fs | הערות. |
1067 | Muscular dystrophy, limb-girdle, type 2B | 253601 | DYSF | c.5057+5G>A | Intron | הערות. |
1068 | Muscular dystrophy, limb-girdle, type 2B | 253601 | DYSF | c.5429G>A | p.Arg1810Lys | הערות. |
265 | Meleda disease | 248300 | SLURP1 | c.256G>A | p.Gly86Arg | הערות. |
266 | Meleda disease | 248300 | SLURP1 | c.256G>C | p.Gly86Arg | הערות. |
169 | Mandibuloacral dysplasia | 248370 | LMNA | c.1580G>A | p.Arg527His | הערות. |
105 | Marfan syndrome | 154700 | FBN1 | c.3037G>A | p.Gly1013Arg | הערות. |
106 | Marfan syndrome | 154700 | FBN1 | c.3037G>C | p.Gly1013Arg | הערות. |
107 | Marfan syndrome | 154700 | FBN1 | c.3410G>C | p.Arg1137Pro | הערות. |
140 | Meconium ileus | 614665 | GUCY2C | c.1160A>G | p.Asp387Gly | הערות. |
57 | Melanoma, cutaneous malignant, 2 | 600160 | CDKN2A | c.176T>G | p.Val59Gly | הערות. |
199 | MELAS syndrome | 540000 | MT-TL1 | m.3243A>G | mtDNA | הערות. |
198 | MERRF syndrome | 545000 | MT-TK | m.8344A>G | mtDNA | הערות. |
24 | Metachromatic leukodystrophy | 250100 | ARSA | c.576G>C | p.Gln192His | הערות. |
192 | Homocystinuria due to MTHFR deficiency | 236250 | MTHFR | c.474A>T | p.Gly158Gly | הערות. |
1250 | Complex I, mitochondrial respiratory chain, deficiency of | 252010 | NDUFS6 | c.344G>A | p.Cys115Tyr | הערות. |
280 | Mitochondrial complex III deficiency | 124000 | UQCRQ | c.134C>T | p.Ser45Phe | הערות. |
297 | Mitochondrial DNA depletion syndrome 5 | 612073 | SUCLA2 | c.789del43ins5 | p.Asp263Glufs*1 | הערות. |
3 | Mitochondrial DNA depletion syndrome 3 | 251880 | DGUOK | c.255delA | p.Ala86Profs*13 | הערות. |
273 | Mitochondrial DNA depletion syndrome 2 | 609560 | TK2 | c.635T>A | p.Ile212Asn | הערות. |
1287 | Mitochondrial myopathy and sideroblastic anemia 1 | 600462 | PUS1 | c.430C>T | p.Arg116Trp | הערות. |
184 | Megalencephalic leukoencephalopathy with subcortical cysts | 604004 | MLC1 | c.135insC | p.Cys46Alafs*12 | הערות. |
1229 | Megalencephalic leukoencephalopathy with subcortical cysts | 604004 | MLC1 | c.176G>A | p.Gly59Glu | הערות. |
1230 | Megalencephalic leukoencephalopathy with subcortical cysts | 604004 | MLC1 | c.274C>T | p.Pro92Ser | הערות. |
1231 | Megalencephalic leukoencephalopathy with subcortical cysts | 604004 | MLC1 | c.278C>T | p.Ser93Leu | הערות. |
859 | Metachromatic leukodystrophy | 250100 | ARSA | c.1136C>T | p.Pro379Leu | הערות. |
860 | Metachromatic leukodystrophy | 250100 | ARSA | c.1283C>T | p.Pro428Leu | הערות. |
861 | Metachromatic leukodystrophy | 250100 | ARSA | c.465+1G>A | Intron | הערות. |
863 | Metachromatic leukodystrophy | 250100 | ARSA | c.827C>T | p.Thr276Met | הערות. |
1165 | Mucolipidosis III gamma | 252605 | GNPTG | c.499insC | fs | הערות. |
1226 | Mucolipidosis IV | 252650 | MCOLN1 | c.406-2A>G | Intron | הערות. |
1227 | Mucolipidosis IV | 252650 | MCOLN1 | Large deletion | Large deletion | הערות. |
1232 | Molybdenum cofactor deficiency, type A | 252150 | MOCS1 | c.722delT | fs | הערות. |
1233 | Molybdenum cofactor deficiency, type A | 252150 | MOCS1 | c.971G>A | p.GLY324GLU | הערות. |
1059 | Hypotrichosis, localized, autosomal recessive | 607903 | DSG4 | c.216+1G>T | Intron | הערות. |
1060 | Hypotrichosis, localized, autosomal recessive | 607903 | DSG4 | c.763delT | fs | הערות. |
1061 | Hypotrichosis, localized, autosomal recessive | 607903 | DSG4 | c.800C>G | p.Pro267Arg | הערות. |
1062 | Hypotrichosis, localized, autosomal recessive | 607903 | DSG4 | c.865C>T | p.Arg289* | הערות. |
892 | Maple syrup urine disease, type Ia | 248600 | BCKDHA | c.859C>T | p.Arg287* | הערות. |
893 | Maple syrup urine disease, type Ib | 248600 | BCKDHB | c.1016C>T | p.Ser289Leu | הערות. |
894 | Maple syrup urine disease, type Ib | 248600 | BCKDHB | c.1114G>T | p.Glu372* | הערות. |
895 | Maple syrup urine disease, type Ib | 248600 | BCKDHB | c.548G>C | p.Arg183Pro | הערות. |
896 | Maple syrup urine disease, type Ib | 248600 | BCKDHB | c.832G>A | p.Gly278Ser | הערות. |
1051 | Maple syrup urine disease, type II | 248600 | DBT | c.581C>G | p.Ser194* | הערות. |
1052 | Maple syrup urine disease, type II | 248600 | DBT | Large deletion | Large deletion | הערות. |
1057 | Maple syrup urine disease, type III | 248600 | DLD | c.105insA | fs | הערות. |
1058 | Maple syrup urine disease, type III | 248600 | DLD | c.685G>T | p.Gly229Cys | הערות. |
115 | Muenke syndrome | 602849 | FGFR3 | c.749C>G | p.Pro250Arg | הערות. |
224 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 614080 | PIGN | c.2126G>A | p.Arg709Gln | הערות. |
277 | Mitochondrial DNA depletion syndrome 1 | 603041 | TYMP | c.433G>A | p.Gly145Arg | הערות. |
301 | Inclusion body myopathy-3 | 605637 | MYH2 | c.2400delG | p.Phe801SerfsX28 | הערות. |
1251 | Nemaline myopathy 2, autosomal recessive | 256030 | NEB | Large deletion | fs | הערות. |
155 | Nephronophthisis 2, infantile | 602088 | INVS | c.2719C>T | p.Arg907* | הערות. |
215 | Nephrotic syndrome, type 2 | 600995 | NPHS2 | c.412C>T | p.Arg138* | הערות. |
212 | Neurofibromatosis, type 1 | 162200 | NF1 | c.1541_1542delAG | p.Gln514Argfs*43 | הערות. |
213 | Neurofibromatosis, type 1 | 162200 | NF1 | c.5839C>T | p.Arg1947* | הערות. |
1315 | Niemann-Pick disease, type A | 257200 | SMPD1 | c.1493G>T | p.Arg498Leu | הערות. |
1316 | Niemann-Pick disease, type A | 257200 | SMPD1 | c.573delT | fs | הערות. |
1317 | Niemann-Pick disease, type A | 257200 | SMPD1 | c.911T>C | p.Leu304Pro | הערות. |
1318 | Niemann-Pick disease, type A | 257200 | SMPD1 | c.996delC | fs | הערות. |
1319 | Niemann-Pick disease, type B | 607616 | SMPD1 | c.1828_1830delCGC | p.Arg610del | הערות. |
858 | Glycine encephalopathy | 605899 | AMT | c.125A>G | p.His42Arg | הערות. |
1163 | Glycine encephalopathy | 605899 | GLDC | c.2405C>T | p.Ala802Val | הערות. |
139 | Glycine encephalopathy | 605899 | GLDC | c.2607C>A | p.Pro869= | הערות. |
239 | Noonan syndrome 1 | 163950 | PTPN11 | c.922A>G | p.Asn308Asp | הערות. |
240 | Noonan syndrome 1 | 163950 | PTPN11 | c.923A>G | p.Asn308Ser | הערות. |
278 | Albinism, oculocutaneous, type I | 203100 | TYR | c.1037-7T>A | Intron | הערות. |
279 | Albinism, oculocutaneous, type I | 203100 | TYR | c.649delC | p.Arg217Glyfs*9 | הערות. |
218 | Albinism, oculocutaneous, type II | 203200 | OCA2 | c.2372_2373delTC | p.Val791Glyfs*58 | הערות. |
268 | Osteopetrosis, autosomal recessive 8 | 615085 | SNX10 | c.152G>A | p.Arg51Gln | הערות. |
271 | Osteopetrosis, autosomal recessive 1 | 259700 | TCIRG1 | c.1331G>T | p.Arg444Leu | הערות. |
1296 | Pontocerebellar hypoplasia type 2D | 613811 | SEPSECS | c.1001A>G | p.Tyr334Cys | הערות. |
1297 | Pontocerebellar hypoplasia type 2D | 613811 | SEPSECS | c.715G>A | p.Ala239Thr | הערות. |
292 | Leukodystrophy, hypomyelinating, 3 | 260600 | AIMP1 | c.292_293delCA | p.Gln98Valfs*30 | הערות. |
154 | Leukodystrophy, hypomyelinating, 4 | 612233 | HSPD1 | c.86A>G | p.Asp29Gly | הערות. |
1302 | Pendred syndrome | 274600 | SLC26A4 | c.1001G>T | p.Gly334Val | הערות. |
1303 | Pendred syndrome | 274600 | SLC26A4 | c.1151A>G | p.Glu384Gly | הערות. |
1304 | Pendred syndrome | 274600 | SLC26A4 | c.1198delT | fs | הערות. |
1305 | Pendred syndrome | 274600 | SLC26A4 | c.1246A>C | p.Thr416Pro | הערות. |
1306 | Pendred syndrome | 274600 | SLC26A4 | c.1341+1delG | fs | הערות. |
1307 | Pendred syndrome | 274600 | SLC26A4 | c.2000T>G | p.Phe667Cys | הערות. |
1308 | Pendred syndrome | 274600 | SLC26A4 | c.2168A>G | p.His723Arg | הערות. |
1309 | Pendred syndrome | 274600 | SLC26A4 | c.349C>T | p.Leu117Phe | הערות. |
1310 | Pendred syndrome | 274600 | SLC26A4 | c.707T>C | p.Leu236Pro | הערות. |
1311 | Pendred syndrome | 274600 | SLC26A4 | c.716T>A | p.Val239Asp | הערות. |
839 | Hyperinsulinemic hypoglycemia, familial, 1 | 256450 | ABCC8 | c.3989-9G>A | Intron | הערות. |
840 | Hyperinsulinemic hypoglycemia, familial, 1 | 256450 | ABCC8 | c.4159_4161delTTC | p.Phe1387del | הערות. |
841 | Hyperinsulinemic hypoglycemia, familial, 1 | 256450 | ABCC8 | c.560T>A | p.Val187Asp | הערות. |
219 | Phenylketonuria | 261600 | PAH | c.722G>A | p.Arg241His | הערות. |
1263 | Phenylketonuria | 261600 | PAH | c.1045T>C | p.Ser349Pro | הערות. |
1264 | Phenylketonuria | 261600 | PAH | c.1066-11G>A | Intron | הערות. |
Phenylketonuria | 261600 | PAH | c.1208C>T | p.Ala403Val | הערות. | |
1266 | Phenylketonuria | 261600 | PAH | c.1222C>T | p.Arg408Trp | הערות. |
1267 | Phenylketonuria | 261600 | PAH | c.1315+1G>A | Intron | הערות. |
1268 | Phenylketonuria | 261600 | PAH | c.143T>C | p.Leu48Ser | הערות. |
1269 | Phenylketonuria | 261600 | PAH | c.165delT | fs | הערות. |
1270 | Phenylketonuria | 261600 | PAH | c.165T>G | p.Phe55Leu | הערות. |
1271 | Phenylketonuria | 261600 | PAH | c.441+5G>T | Intron | הערות. |
1272 | Phenylketonuria | 261600 | PAH | c.473G>A | p.Arg158Gln | הערות. |
1273 | Phenylketonuria | 261600 | PAH | c.533A>G | p.Glu178Gly | הערות. |
1274 | Phenylketonuria | 261600 | PAH | c.689T>C | p.Val230Ala | הערות. |
1275 | Phenylketonuria | 261600 | PAH | c.754C>T | p.Arg252Trp | הערות. |
1276 | Phenylketonuria | 261600 | PAH | c.782G>A | p.Arg261Gln | הערות. |
1277 | Phenylketonuria | 261600 | PAH | c.842C>T | p.Pro281Leu | הערות. |
1278 | Phenylketonuria | 261600 | PAH | c.898G>T | p.Ala300Ser | הערות. |
852 | Autoimmune polyendocrinopathy syndrome , type I | 240300 | AIRE | c.1163_1164insA | p.Met388fs*35 | הערות. |
853 | Autoimmune polyendocrinopathy syndrome , type I | 240300 | AIRE | c.247A>G | p.Lys83Glu | הערות. |
854 | Autoimmune polyendocrinopathy syndrome , type I | 240300 | AIRE | c.254A>G | p.Tyr85Cys | הערות. |
855 | Autoimmune polyendocrinopathy syndrome , type I | 240300 | AIRE | c.769C>T | p.Arg257* | הערות. |
856 | Autoimmune polyendocrinopathy syndrome , type I | 240300 | AIRE | c.967_979delCTGTCCCCTCCGC | p.Cys322fs*372 | הערות. |
1111 | Glycogen storage disease II | 232300 | GAA | c.1935C>A | p.Asp645Glu | הערות. |
1112 | Glycogen storage disease II | 232300 | GAA | c.-32-13T>G | 5' UTR | הערות. |
290 | Glycogen storage disease II | 232300 | GAA | c.1064T>C | p.Leu355Pro | הערות. |
127 | Glycogen storage disease II | 232300 | GAA | c.1210G>A | p.Asp404Asn | הערות. |
288 | Glycogen storage disease II | 232300 | GAA | c.670C>T | p.Arg224Trp | הערות. |
250 | Ciliary dyskinesia, primary, 12 | 612650 | RSPH9 | c.804_806delGAA | p.Lys268del | הערות. |
93 | Ciliary dyskinesia, primary, 9 | 612444 | DNAI2 | c.1304G>A | p.Trp435* | הערות. |
94 | Ciliary dyskinesia, primary, 9 | 612444 | DNAI2 | c.1494+1G>A | Intron | הערות. |
95 | Ciliary dyskinesia, primary, 9 | 612444 | DNAL1 | c.449A>G | p.Asn150Ser | הערות. |
231 | Epilepsy, progressive myoclonic 1B | 612437 | PRICKLE1 | c.311G>A | p.Arg104Gln | הערות. |
286 | Spondyloepiphyseal dysplasia tarda with progressive arthropathy | 208230 | WISP3 | c.536_537delGT | p.Cys179* | הערות. |
221 | Prolidase deficiency | 170100 | PEPD | c.1103T>G | p.Leu368Arg | הערות. |
1282 | Prolidase deficiency | 170100 | PEPD | c.605C>T | p.Ser202Phe | הערות. |
222 | Prolidase deficiency | 170100 | PEPD | c.634G>C | p.Ala212Pro | הערות. |
890 | Butyrylcholinesterase Deficiency | 177400 | BCHE | c.293A>G | p.Asp98Gly | הערות. |
1033 | Pycnodysostosis | 265800 | CTSK | c.990A>G | p.*330Trp | הערות. |
229 | Pyridoxamine 5'-phosphate oxidase deficiency | 610090 | PNPO | c.284G>A | p.Arg95His | הערות. |
264 | Renal glucosuria | 233100 | SLC5A2 | c.962A>G | p.Lys321Arg | הערות. |
220 | Renal hypoplasia, isolated | 191830 | PAX2 | c.76insG | p.Val26Glyfs*28 | הערות. |
1070 | Retinitis pigmentosa 25 | 602772 | EYS | c.1211insA | fs | הערות. |
1054 | Retinitis pigmentosa 59 | 613861 | DHDDS | c.124A>G | p.Lys42Glu | הערות. |
1081 | Retinitis pigmentosa 28 | 606068 | FAM161A | c.1309A>T | p.Arg437* | הערות. |
1082 | Retinitis pigmentosa 28 | 606068 | FAM161A | c.1355_1356delCA | p.Thr452Serfs*3 | הערות. |
1334 | Retinitis pigmentosa 14 | 600132 | TULP1 | c.1495+2insT | Intron | הערות. |
1083 | Retinitis pigmentosa 28 | 606068 | FAM161A | c.1567C>T | p.Arg523* | הערות. |
1084 | Retinitis pigmentosa 28 | 606068 | FAM161A | c.1618C>T | p.Arg540* | הערות. |
1084 | Retinitis pigmentosa 28 | 606068 | FAM161A | c.1618C>T | p.Arg596* | הערות. |
1281 | Retinitis pigmentosa 57 | 613582 | PDE6G | c.187+1G>T | Intron | הערות. |
902 | Retinitis pigmentosa 26 | 608380 | CERKL | c.238+1G>A | Intron | הערות. |
293 | Retinitis pigmentosa 64 | 614500 | C8ORF37 | c.545A>G | p.Gln182Arg | הערות. |
1286 | Retinitis pigmentosa 36 | 610599 | PRCD | c.64C>T | p.Arg22* | הערות. |
100 | Retinitis pigmentosa 25 | 602772 | EYS | c.8155_8156delCA | p.His2719Tyrfs*27 | הערות. |
282 | Rickets, vitamin D-resistant, type IIA | 277440 | VDR | c.885C>A | p.Tyr295* | הערות. |
261 | Hypophosphatemic rickets with hypercalciuria | 241530 | SLC34A3 | c.228delC | p.Cys77Alafs*75 | הערות. |
251 | Minicore myopathy with external ophthalmoplegia | 255320 | RYR1 | c.3263A>G | p.Tyr1088Cys | הערות. |
294 | Sandhoff disease | 268800 | HEXB | c.1082+5G>A | Intron | הערות. |
1298 | Mucopolysaccharidosis type IIIA (Sanfilippo A) | 252900 | SGSH | c.1093C>T | p.Gln365* | הערות. |
1299 | Mucopolysaccharidosis type IIIA (Sanfilippo A) | 252900 | SGSH | c.1298G>A | p.Arg433Gln | הערות. |
1300 | Mucopolysaccharidosis type IIIA (Sanfilippo A) | 252900 | SGSH | c.544C>T | p.Arg182Cys | הערות. |
1301 | Mucopolysaccharidosis type IIIA (Sanfilippo A) | 252900 | SGSH | c.812C>T | p.Thr271Met | הערות. |
843 | Acyl-CoA dehydrogenase, short-chain, deficiency of | 201470 | ACADS | c.319C>T | p.Arg107Cys | הערות. |
844 | Acyl-CoA dehydrogenase, short-chain, deficiency of | 201470 | ACADS | c.511C>T | p.Arg171Trp | הערות. |
845 | Acyl-CoA dehydrogenase, short-chain, deficiency of | 201470 | ACADS | c.625G>A | p.Gly209Ser | הערות. |
242 | Severe combined immunodeficiency, B cell-negative | 601457 | RAG1 | c.1361T>A | p.Leu454Gln | הערות. |
244 | Severe combined immunodeficiency, B cell-negative | 601457 | RAG2 | c.193G>T | p.Asp65Tyr | הערות. |
245 | Severe combined immunodeficiency, B cell-negative | 601457 | RAG2 | c.685C>T | p.Arg229Trp | הערות. |
8 | Severe combined immunodeficiency due to ADA deficiency | 102700 | ADA | c.703C>T | p.Arg235Trp | הערות. |
9 | Severe combined immunodeficiency due to ADA deficiency | 102700 | ADA | c.792G>A | p.Trp264* | הערות. |
243 | Severe combined immunodeficiency, B cell-negative | 601457 | RAG2 | c.104G>T | p.Gly35Val | הערות. |
85 | Smith-Lemli-Opitz syndrome | 270400 | DHCR7 | c.1054C>T | p.Arg352Trp | הערות. |
86 | Smith-Lemli-Opitz syndrome | 270400 | DHCR7 | c.1210C>T | p.Arg404Cys | הערות. |
87 | Smith-Lemli-Opitz syndrome | 270400 | DHCR7 | c.278C>T | p.Thr93Met | הערות. |
88 | Smith-Lemli-Opitz syndrome | 270400 | DHCR7 | c.452G>A | p.Trp151* | הערות. |
89 | Smith-Lemli-Opitz syndrome | 270400 | DHCR7 | c.452G>C | p.Trp151Ser | הערות. |
90 | Smith-Lemli-Opitz syndrome | 270400 | DHCR7 | c.453G>A | p.Trp151* | הערות. |
91 | Smith-Lemli-Opitz syndrome | 270400 | DHCR7 | c.964-1G>C | Intron | הערות. |
92 | Smith-Lemli-Opitz syndrome | 270400 | DHCR7 | c.976G>T | p.Val326Leu | הערות. |
1203 | Neuronopathy, distal hereditary motor, type VI | 604320 | IGHMBP2 | c.114delA | fs | הערות. |
295 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | POC1A | c.512T>C | p.Leu171Pro | הערות. |
284 | Pontocerebellar hypoplasia type 1A | 607596 | VRK1 | c.1072C>T | p.Arg358* | הערות. |
82 | Spondylometaepiphyseal dysplasia, short limb-hand type | 271665 | DDR2 | c.2254C>T | p.Arg752Cys | הערות. |
1223 | Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome | 601559 | LIFR | c.1601-1G>A | Intron | הערות. |
165 | Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome | 601559 | LIFR | c.2472_2476delTATGT | p.Ser824Argfs*41 | הערות. |
1 | Surfactant metabolism dysfunction, pulmonary, 3 | 610921 | ABCA3 | c.316C>T | p.Arg106* | הערות. |
1177 | Tay-Sachs disease | 272800 | HEXA | c.1073+1G>A | Intron | הערות. |
1178 | Tay-Sachs disease | 272800 | HEXA | c.1274_1277insTATC | fs | הערות. |
1179 | Tay-Sachs disease | 272800 | HEXA | c.1306A>G | p.Ile436Val | הערות. |
1180 | Tay-Sachs disease | 272800 | HEXA | c.1351C>G | p.Leu451Val | הערות. |
1181 | Tay-Sachs disease | 272800 | HEXA | c.1421+1G>C | Intron | הערות. |
1182 | Tay-Sachs disease | 272800 | HEXA | c.1444G>A | p.Glu482Lys | הערות. |
142 | Tay-Sachs disease | 272800 | HEXA | c.496delC | p.Arg166Alafs*33 | הערות. |
1183 | Tay-Sachs disease | 272800 | HEXA | c.509G>A | p.Arg170Gln | הערות. |
1184 | Tay-Sachs disease | 272800 | HEXA | c.532C>T | p.Arg178Cys | הערות. |
1185 | Tay-Sachs disease | 272800 | HEXA | c.533G>A | p.Arg178His | הערות. |
1186 | Tay-Sachs disease | 272800 | HEXA | c.533G>T | p.Arg178Leu | הערות. |
1187 | Tay-Sachs disease | 272800 | HEXA | c.540C>G | p.Tyr180* | הערות. |
1188 | Tay-Sachs disease | 272800 | HEXA | c.571-2A>G | Intron | הערות. |
1189 | Tay-Sachs disease | 272800 | HEXA | c.749G>T | p.Gly250Val | הערות. |
1190 | Tay-Sachs disease | 272800 | HEXA | c.805+1G>A | Intron | הערות. |
1191 | Tay-Sachs disease | 272800 | HEXA | c.805G>A | p.Gly269Ser | הערות. |
143 | Tay-Sachs disease | 272800 | HEXA | c.835T>C | p.Ser279Pro | הערות. |
1192 | Tay-Sachs disease | 272800 | HEXA | c.910_912delTTC | p.Phe304del | הערות. |
116 | Thanatophoric dysplasia, type I | 187600 | FGFR3 | c.742C>T | p.Arg248Cys | הערות. |
117 | Thanatophoric dysplasia, type II | 187601 | FGFR3 | c.1948A>G | p.Lys650Glu | הערות. |
118 | Thanatophoric dysplasia, type II | 187601 | FGFR3 | c.1949A>T | p.Lys650Met | הערות. |
259 | Thiamine-responsive megaloblastic anemia syndrome | 249270 | SLC19A2 | c.725delC | p.Pro242Glnfs*18 | הערות. |
1208 | Glanzmann thrombasthenia | 273800 | ITGB3 | c.2031_2041delTGCAGTGAATT | fs | הערות. |
1207 | Glanzmann thrombasthenia | 273800 | ITGA2B | c.409-2_419delAGGCCTGCGCCCC | fs | הערות. |
1209 | Glanzmann thrombasthenia | 273800 | ITGB3 | c.428T>G | p.Leu143Trp | הערות. |
1210 | Glanzmann thrombasthenia | 273800 | ITGB3 | Large deletion | Large deletion | הערות. |
1074 | Thrombophilia due to thrombin defect | 188050 | F2 | 3' UTR | 3' UTR | הערות. |
101 | Thrombophilia due to thrombin defect | 188050 | F2 | c.*96C>T | 3' UTR | הערות. |
1075 | Thrombophilia due to activated protein C resistance | 188055 | F5 | c.1601G>A | p.Arg534Gln | הערות. |
1234 | Thromboembolism, susceptibility to | 188050 | MTHFR | c.665C>T | p.Ala222Val | הערות. |
1078 | Tyrosinemia, type I | 276700 | FAH | c.1062+5G>A | Intron | הערות. |
103 | Tyrosinemia, type I | 276700 | FAH | c.554-1G>T | Intron | הערות. |
1079 | Tyrosinemia, type I | 276700 | FAH | c.782C>T | p.Pro261Leu | הערות. |
1080 | Tyrosinemia, type I | 276700 | FAH | c.786G>A | p.Trp262* | הערות. |
302 | Tyrosinemia, type III | 276710 | HPD | c.415-1G>A | Intron | הערות. |
102 | Tyrosinemia, type I | 276700 | FAH | c.192G>T | p.Gln64His | הערות. |
104 | Tyrosinemia, type I | 276700 | FAH | c.707-1G>C | Intron | הערות. |
281 | Usher syndrome, type 1C | 276904 | USH1C | c.1220delG | p.Gly407Glufs*58 | הערות. |
1241 | Usher syndrome, type 1B | 276900 | MYO7A | c.1190C>A | p.Ala397Asp | הערות. |
1242 | Usher syndrome, type 1B | 276900 | MYO7A | c.1996C>T | p.Arg666* | הערות. |
1243 | Usher syndrome, type 1B | 276900 | MYO7A | c.2187+1G>A | Intron | הערות. |
1244 | Usher syndrome, type 1B | 276900 | MYO7A | c.2476G>A | p.Ala826Thr | הערות. |
1245 | Usher syndrome, type 1B | 276900 | MYO7A | c.470+1G>A | Intron | הערות. |
1246 | Usher syndrome, type 1B | 276900 | MYO7A | c.5581C>T | p.Arg1861* | הערות. |
1247 | Usher syndrome, type 1B | 276900 | MYO7A | c.6196delC | fs | הערות. |
1248 | Usher syndrome, type 1B | 276900 | MYO7A | c.640G>A | p.Gly214Arg | הערות. |
1279 | Usher syndrome, type 1F | 602083 | PCDH15 | c.5601_5603delAAC | p.Thr1867_Thr1868delinsThr | הערות. |
1280 | Usher syndrome, type 1F | 602083 | PCDH15 | c.733C>T | p.Arg245* | הערות. |
1339 | Usher syndrome, type 2A | 276901 | USH2A | c.1000C>T | p.Arg334Trp | הערות. |
1340 | Usher syndrome, type 2A | 276901 | USH2A | c.12067-2A>G | Intron | הערות. |
1341 | Usher syndrome, type 2A | 276901 | USH2A | c.2209C>T | p.Arg737* | הערות. |
1342 | Usher syndrome, type 2A | 276901 | USH2A | c.236_239insGTAC | fs | הערות. |
1343 | Usher syndrome, type 2A | 276901 | USH2A | c.4544C>T | p.Thr1515Met | הערות. |
1344 | Usher syndrome, type 2A | 276901 | USH2A | c.5519G>T | p.Gly1840Val | הערות. |
1021 | Usher syndrome, type 3A | 606397 | CLRN1 | c.144T>G | p.Asn48Lys | הערות. |
1022 | Usher syndrome, type 3A | 606397 | CLRN1 | c.528T>G | p.Tyr176* | הערות. |
899 | Ventricular tachycardia, catecholaminergic polymorphic, 2 | 114251 | CASQ2 | c.919G>C | p.Asp307His | הערות. |
846 | Acyl-CoA dehydrogenase, Very long-chain, deficiency of | 201475 | ACADVL | c.799_802delGTTA | fs | הערות. |
121 | Muscular dystrophy-dystroglycanopathy, type A, 4 | 253800 | FKTN | c.1167insA | p.Phe390Ilefs*14 | הערות. |
880 | Wilson disease | 277900 | ATP7B | c.1340_1343delAAAC | fs | הערות. |
881 | Wilson disease | 277900 | ATP7B | c.1639delC | fs | הערות. |
28 | Wilson disease | 277900 | ATP7B | c.2293G>A | p.Asp765Asn | הערות. |
883 | Wilson disease | 277900 | ATP7B | c.2333G>T | p.Arg778Leu | הערות. |
884 | Wilson disease | 277900 | ATP7B | c.2337G>A | p.Trp779* | הערות. |
885 | Wilson disease | 277900 | ATP7B | c.2906G>A | p.Arg969Gln | הערות. |
886 | Wilson disease | 277900 | ATP7B | c.3207C>A | p.His1069Gln | הערות. |
29 | Wilson disease | 277900 | ATP7B | c.3402delC | p.Ala1135Glnfs*13 | הערות. |
887 | Wilson disease | 277900 | ATP7B | c.3649_3654delGTTCTG | fs | הערות. |
888 | Wilson disease | 277900 | ATP7B | c.845delT | fs | הערות. |
285 | Wiskott-Aldrich syndrome | 301000 | WAS | c.119G>T | p.Gly40Val | הערות. |
166 | Wolman disease | 278000 | LIPA | c.260G>T | p.Gly87Val | הערות. |
1224 | Wolman disease | 278000 | LIPA | c.398delC | fs | הערות. |
81 | Woodhouse-Sakati syndrome | 241080 | DCAF17 | c.436delC | p.Ala147Hisfs*9 | הערות. |
230 | Xeroderma pigmentosum, variant type | 278750 | POLH | c.522G>T | p.Trp174Cys | הערות. |
287 | Xeroderma pigmentosum, group C | 278720 | XPC | c.566_567delAT | p.Tyr189Serfs*10 | הערות. |
1283 | Peroxisome biogenesis disorder 1A (Zellweger) | 214100 | PEX1 | c.2097insT | fs | הערות. |
1284 | Peroxisome biogenesis disorder 1A (Zellweger) | 214100 | PEX1 | c.2528G>A | p.Gly843Asp | הערות. |
1285 | Peroxisome biogenesis disorder 5A (Zellweger) | 614866 | PEX2 | c.550delC | p.R184fs*7 | הערות. |