סקר גנטי לנשאות מחלות תורשתיות - סקר מורחב

מתוך Genopedia - פרופ' מוטי שוחט

(הבדלים בין גרסאות)
קפיצה אל: ניווט, חיפוש
גרסה מתאריך 07:00, 12 במאי 2014 (עריכה)
Motti (שיחה | תרומות)
(בטרייה מורחבת של בדיקות לנשאות של מחלות תורשתיות הנבדקות כסקר לקראת היריון:)
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גרסה מתאריך 07:01, 12 במאי 2014 (עריכה) (ביטול)
Motti (שיחה | תרומות)
(בטרייה מורחבת של בדיקות לנשאות של מחלות תורשתיות הנבדקות כסקר לקראת היריון:)
עבור להשוואת הגרסאות הבאה ←
שורה 7: שורה 7:
! מספר סידורי !! מחלה קלינית !! מספר OMIM !! גן !! מוטציה בגן - c. !! מוטציה בחלבון - p. !! הערות ! מספר סידורי !! מחלה קלינית !! מספר OMIM !! גן !! מוטציה בגן - c. !! מוטציה בחלבון - p. !! הערות
|- |-
-! align="right |1035 ||Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency ||202010 ||CYP11B1 ||c.1342C>T ||p.Arg448Cys || הערות.+| align="right |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. |1036 ||כנ"ל ||202010 ||CYP11B1 ||c.1343G>A ||p.Arg448His || הערות.

גרסה מתאריך 07:01, 12 במאי 2014

בטרייה מורחבת של בדיקות לנשאות של מחלות תורשתיות הנבדקות כסקר לקראת היריון:

מוטציות ומחלות שנבדקות בסקר המורחה למחלות תורשתיות PN-chip:
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
1235 Abetalipoproteinemia 200100 MTTP c.2593G>T p.Gly865*
1236 Abetalipoproteinemia 200100 MTTP c.307A>T p.Lys103*
1237 Abetalipoproteinemia 200100 MTTP c.62-2A>G Intron

110 ||Achondroplasia ||100800 ||FGFR3 ||c.1138G>A ||p.Gly380Arg 111 ||Achondroplasia ||100800 ||FGFR3 ||c.1138G>C ||p.Gly380Arg 68 ||Achromatopsia-2 ||216900 ||CNGA3 ||c.1585G>A ||p.Val529Met 263 ||Acrodermatitis enteropathica ||201100 ||SLC39A4 ||c.1223delC ||p.Leu410Serfs*73 1331 ||Liver failure, transient infantile ||613070 ||TRMU ||c.229T>C ||p.Tyr77His 842 ||Adrenoleukodystrophy ||300100 ||ABCD1 ||c.686T>C ||p.Leu229Pro 136 ||Adult i phenotype with congenital cataract ||110800 ||GCNT2 ||c.977G>A ||p.Trp328* 1335 ||Albinism, oculocutaneous, type I ||203100 ||TYR ||c.1118C>A ||p.Thr373Lys 1337 ||Albinism, oculocutaneous, type I ||203100 ||TYR ||c.140G>A ||p.Gly47Asp 1338 ||Albinism, oculocutaneous, type I ||203100 ||TYR ||c.149C>G ||p.Ser50* 255 ||Emphysema-cirrhosis, due to AAT deficiency ||613490 ||SERPINA1 ||c.1096G>A ||p.Glu366Lys 256 ||Emphysema-cirrhosis, due to AAT deficiency ||613490 ||SERPINA1 ||c.863A>T ||p.Glu288Val 1023 ||Alport syndrome ||301050 ||COL4A5 ||c.4691G>C ||p.Cys1564Ser 1024 ||Alport syndrome ||301050 ||COL4A5 ||c.4946T>G ||p.Leu1649Arg 185 ||Thrombocytopenia, congenital amegakaryocytic ||604498 ||MPL ||c.79+2T>A ||Intron 109 ||Apert syndrome ||101200 ||FGFR2 ||c.758C>G ||p.Pro253Arg 108 ||Apert syndrome ||101200 ||FGFR2 ||c.755C>G ||p.Ser252Trp 20 ||Alzheimer disease-2 ||104310 ||APOE ||c.388T>C ||p.Cys130Arg 21 ||Alzheimer disease-2 ||104310 ||APOE ||c.478C>T ||p.Arg160Cys 864 ||Argininosuccinic aciduria ||207900 ||ASL ||c.346C>T ||p.Gln116* 225 ||Lethal congenital contractural syndrome 3 ||611369 ||PIP5K1C ||c.757G>A ||p.Asp253Asn 11 ||Aspartylglucosaminuria ||208400 ||AGA ||c.214T>C ||p.Ser72Pro 872 ||Ataxia-telangiectasia ||208900 ||ATM ||c.103C>T ||p.Arg35* 873 ||Ataxia-telangiectasia ||208900 ||ATM ||c.1339C>T ||p.Arg447* 874 ||Ataxia-telangiectasia ||208900 ||ATM ||c.2839-579_2839-576del4 ||Intron 875 ||Ataxia-telangiectasia ||208900 ||ATM ||c.3245_3247delATCinsTGAT ||p.His1081Leufs*13 876 ||Ataxia-telangiectasia ||208900 ||ATM ||c.3576G>A ||p.Lys1192Lys 27 ||Ataxia-telangiectasia ||208900 ||ATM ||c.368delA ||p.Tyr123Leufs*6 877 ||Ataxia-telangiectasia ||208900 ||ATM ||c.5763-1050A>G ||Intron 878 ||Ataxia-telangiectasia ||208900 ||ATM ||c.6672_6680delGGCTCTACGinsCTC ||p.Met2224Ilefs*44 879 ||Ataxia-telangiectasia ||208900 ||ATM ||c.7241_7244delAAGC ||p.Gln2414Leufs*2 147 ||Atrichia with papular lesions ||209500 ||HR ||c.2147delC ||p.Pro716Glnfs*186 148 ||Atrichia with papular lesions ||209500 ||HR ||c.431delC ||p.Pro144Lysfs*24 23 ||Bardet-Biedl syndrome 3 ||209900 ||ARL6 ||c.364C>T ||p.Arg122* 889 ||Bardet-Biedl syndrome 1 ||209900 ||BBS1 ||c.1169T>G ||p.Met390Arg 897 ||Bardet-Biedl syndrome 10 ||209900 ||C12ORF58 ||c.271insT ||fs 30 ||Bardet-Biedl syndrome 2 ||209900 ||BBS2 ||c.224T>G ||p.Val75Gly 31 ||Bardet-Biedl syndrome 4 ||209900 ||BBS4 ||c.884G>C ||p.Arg295Pro 67 ||Bartter syndrome, type 3 ||607364 ||CLCNKB ||c.1313G>A ||p.Arg438His 52 ||Bartter syndrome, type 4a ||602522 ||BSND ||c.28G>A ||p.Gly10Ser 53 ||Biotinidase deficiency ||253260 ||BTD ||c.100G>A ||p.Gly34Ser 54 ||Biotinidase deficiency ||253260 ||BTD ||c.1612C>T ||p.Arg538Cys 156 ||Blood group, Kell ||110900 ||KEL ||c.578C>G ||p.Thr193Arg 157 ||Blood group, Kell ||110900 ||KEL ||c.578C>T ||p.Thr193Met 248 ||Blood group, Rhesus ||111690 ||RHCE ||c.676G>C ||p.Pro226Ala 1291 ||Bloom syndrome ||210900 ||RECQL3 ||c.2207_2212delATCTGA ||p.Tyr736_Thr738delinsSer 1292 ||Bloom syndrome ||210900 ||RECQL3 ||c.2407insT ||fs 124 ||Growth retardation, developmental delay, coarse facies, and early death ||612938 ||FTO ||c.947G>A ||p.Arg316Gln 99 ||Branchiootorenal syndrome 1 ||113650 ||EYA1 ||c.1475G>C ||p.Arg492Pro 37 ||Breast-ovarian cancer, familial, 1 ||604370 ||BRCA1 ||c.181T>C ||p.Cys61Arg 38 ||Breast-ovarian cancer, familial, 1 ||604370 ||BRCA1 ||c.181T>G ||p.Cys61Gly 39 ||Breast-ovarian cancer, familial, 1 ||604370 ||BRCA1 ||c.2934T>G ||p.Tyr978* 40 ||Breast-ovarian cancer, familial, 1 ||604370 ||BRCA1 ||c.4034delA ||p.Glu1346Lysfs*20 41 ||Breast-ovarian cancer, familial, 1 ||604370 ||BRCA1 ||c.5123C>A ||p.Ala1708Glu 42 ||Breast-ovarian cancer, familial, 1 ||604370 ||BRCA1 ||c.5123C>T ||p.Ala1708Val 43 ||Breast-ovarian cancer, familial, 1 ||604370 ||BRCA1 ||c.5266insC ||p.Gln1756Profs*74 46 ||Breast-ovarian cancer, familial, 2 ||612555 ||BRCA2 ||c.5946delT ||p.Ser1982Argfs*22 47 ||Breast-ovarian cancer, familial, 2 ||612555 ||BRCA2 ||c.6275_6276delTT ||p.Leu2092Profs*7 48 ||Breast-ovarian cancer, familial, 2 ||612555 ||BRCA2 ||c.67+1G>A ||Intron 49 ||Breast-ovarian cancer, familial, 2 ||612555 ||BRCA2 ||c.67+1G>T ||Intron 44 ||Breast-ovarian cancer, familial, 1 ||604370 ||BRCA1 ||c.68_69delAG ||p.Glu23Valfs*17 50 ||Breast-ovarian cancer, familial, 2 ||612555 ||BRCA2 ||c.7007G>C ||p.Arg2336Pro 51 ||Breast-ovarian cancer, familial, 2 ||612555 ||BRCA2 ||c.8537_8538delAG ||p.Glu2846Glyfs*22 45 ||Breast-ovarian cancer, familial, 1 ||604370 ||BRCA1 ||c.981_982delAT ||p.Cys328*fs 1347 ||Brittle cornea syndrome ||229200 ||ZNF469 ||c.5943delA ||fs 1348 ||Brittle cornea syndrome ||229200 ||ZNF469 ||c.9531delG ||fs 32 ||Butyrylcholinesterase Deficiency ||177400 ||BCHE ||c.1253G>T ||p.Gly418Val 33 ||Butyrylcholinesterase Deficiency ||177400 ||BCHE ||c.1574A>T ||p.Glu525Val 34 ||Butyrylcholinesterase Deficiency ||177400 ||BCHE ||c.1699G>A ||p.Ala567Thr 35 ||Butyrylcholinesterase Deficiency ||177400 ||BCHE ||c.812C>T ||p.Thr271Met 1294 ||Tumoral calcinosis, familial, normophosphatemic ||610455 ||SAMD9 ||c.1030C>T ||p.Arg344* 1295 ||Tumoral calcinosis, familial, normophosphatemic ||610455 ||SAMD9 ||c.4483A>G ||p.Lys1495Glu 128 ||Tumoral calcinosis, hyperphosphatemic, familial ||211900 ||GALNT3 ||c.1524+5G>A ||Intron 865 ||Canavan disease ||271900 ||ASPA ||c.433-2A>G ||Intron 866 ||Canavan disease ||271900 ||ASPA ||c.693C>A ||p.Tyr231* 25 ||Canavan disease ||271900 ||ASPA ||c.693C>T ||p.Tyr231= 868 ||Canavan disease ||271900 ||ASPA ||c.693T>A ||p.Tyr231* 870 ||Canavan disease ||271900 ||ASPA ||c.854A>C ||p.Glu285Ala 871 ||Canavan disease ||271900 ||ASPA ||c.914C>A ||p.Ala305Glu 1025 ||Carbamoylphosphate synthetase I deficiency ||237300 ||CPS1 ||c.3265C>T ||p.Arg1089Cys 197 ||Cardiomyopathy, Hypertrophic ||590035 ||MT-TG ||m.9997T>C ||mtDNA 253 ||Cardiomyopathy, dilated, 1GG ||613642 ||SDHA ||c.1664G>A ||p.Gly555Glu 69 ||CPT deficiency, hepatic, type IA ||255120 ||CPT1A ||c.1361A>G ||p.Asp454Gly 296 ||Carnitine-acylcarnitine translocase deficiency ||212138 ||SLC25A20 ||c.713A>G ||p.Gln238Arg 125 ||Cataract, autosomal recessive congenital 2 ||610019 ||FYCO1 ||c.1546C>T ||p.Gln516* 267 ||Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome ||609528 ||SNAP29 ||c.223delG ||p.Val75Serfs*28 1034 ||Chronic granulomatous disease ||233690 ||CYBA ||c.171_172insG ||p.Lys58Glufs*58 1249 ||Chronic granulomatous disease due to deficiency of NCF-1 ||233700 ||NCF1 ||c.579G>A ||p.Trp193* 96 ||Chondrodysplasia punctata, X-linked dominant ||302960 ||EBP ||c.440G>A ||p.Arg147His 1345 ||Choreoacanthocytosis ||200150 ||VPS13A ||c.6059delC ||fs 1346 ||Choreoacanthocytosis ||200150 ||VPS13A ||Large deletion ||Large deletion 56 ||CD59 deficiency ||107271 ||CD59 ||c.266G>A ||p.Cys89Tyr 1257 ||Insensitivity to pain, congenital, with anhidrosis ||256800 ||NTRK1 ||c.1842_1843insT ||fs 1259 ||Insensitivity to pain, congenital, with anhidrosis ||256800 ||NTRK1 ||c.2066C>T ||p.Pro689Leu 216 ||Insensitivity to pain, congenital, with anhidrosis ||256800 ||NTRK1 ||c.207_208delTG ||p.Glu70Alafs*16 97 ||Cockayne syndrome, type B ||133540 ||ERCC6 ||c.1034insT ||p.Lys345Asnfs*24 1069 ||Cockayne syndrome, type A ||216400 ||ERCC8 ||c.966C>A ||p.Tyr322* 18 ||Adenomatous polyposis coli ||175100 ||APC ||c.3920T>A ||p.Ile1307Lys 19 ||Adenomatous polyposis coli ||175100 ||APC ||c.3949G>C ||p.Glu1317Gln 227 ||Colorectal cancer, hereditary nonpolyposis, type 4 ||614337 ||PMS2 ||c.1970insA ||p.Asn657Lysfs*7 228 ||Colorectal cancer, hereditary nonpolyposis, type 4 ||614337 ||PMS2 ||c.2192T>G ||p.Lys731* 898 ||C7 deficiency ||610102 ||C7 ||c.1135G>C ||p.Gly379Arg 283 ||Spastic paraplegia 53, autosomal recessive ||614898 ||Vps37A ||c.1146A>T ||p.Lys382Asn 3 ||Stargardt disease 1 ||248200 ||ABCA4 ||c.3608G>A ||p.Gly1203Glu 4 ||Stargardt disease 1 ||248200 ||ABCA4 ||c.4254-15del23 ||Intron 5 ||Stargardt disease 1 ||248200 ||ABCA4 ||c.5460+1G>A ||Intron 6 ||Stargardt disease 1 ||248200 ||ABCA4 ||c.5882G>A ||p.Gly1961Glu 71 ||Adrenal insufficiency, congenital, with 46XY sex reversal ||613743 ||CYP11A1 ||c.644T>C ||p.Phe215Ser 72 ||Adrenal insufficiency, congenital, with 46XY sex reversal ||613743 ||CYP11A1 ||c.694C>T ||p.Arg232* 1038 ||Hypoaldosteronism, congenital, due to CMO II deficiency ||610600 ||CYP11B2 ||c.541C>T ||p.Arg181Trp 119 ||Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 ||607155 ||FKRP ||c.160C>G ||p.Arg54Gly 120 ||Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 ||607155 ||FKRP ||c.160C>T ||p.Arg54Trp 1288 ||Myasthenic syndrome, congenital ||608931 ||RAPSN ||5' UTR ||5' UTR 1289 ||Myasthenic syndrome, congenital ||608931 ||RAPSN ||5' UTR ||5' UTR 1290 ||Myasthenic syndrome, congenital ||608931 ||RAPSN ||c.264C>A ||p.Asn88Lys 1252 ||Nephrotic syndrome, type 1 ||256300 ||NPHS1 ||c.1138C>T ||p.Gln380* 1253 ||Nephrotic syndrome, type 1 ||256300 ||NPHS1 ||c.121_122delCT ||fs 214 ||Nephrotic syndrome, type 1 ||256300 ||NPHS1 ||c.2160insC ||p.Cys721Leufs*5 1254 ||Nephrotic syndrome, type 1 ||256300 ||NPHS1 ||c.3325C>T ||p.Arg1109* 126 ||Neutropenia, severe congenital 4, autosomal recessive ||612541 ||G6PC3 ||c.785G>A ||p.Gly262Asp 1260 ||3-methylglutaconic aciduria, type III ||258501 ||OPA3 ||c.143-1G>C ||Intron 1261 ||3-methylglutaconic aciduria, type III ||258501 ||OPA3 ||c.320_337del18 ||p.Gln107_Glu113delinsGln 149 ||Costello syndrome ||218040 ||HRAS ||c.34G>A ||p.Gly12Ser 150 ||Costello syndrome ||218040 ||HRAS ||c.34G>T ||p.Gly12Cys 151 ||Costello syndrome ||218040 ||HRAS ||c.35G>A ||p.Gly12Asp 152 ||Costello syndrome ||218040 ||HRAS ||c.35G>C ||p.Gly12Ala 153 ||Costello syndrome ||218040 ||HRAS ||c.35G>T ||p.Gly12Val 70 ||CPT deficiency, hepatic, type II ||600649 ||CPT2 ||c.1148T>A ||p.Phe383Tyr 1026 ||CPT deficiency, hepatic, type II ||600649 ||CPT2 ||c.1238_1239delAG ||p.Gln413=fs*8 1027 ||CPT deficiency, hepatic, type II ||600649 ||CPT2 ||c.149C>A ||p.Pro50His 1028 ||CPT deficiency, hepatic, type II ||600649 ||CPT2 ||c.338C>T ||p.Ser113Leu 234 ||Creutzfeldt-Jakob disease ||123400 ||PRNP ||c.598G>A ||p.Glu200Lys 232 ||Creutzfeldt-Jakob disease ||123400 ||PRNP ||c.385A>G ||p.Met129Val 233 ||Creutzfeldt-Jakob disease ||123400 ||PRNP ||c.532G>A ||p.Asp178Asn 112 ||Crouzon syndrome with acanthosis nigricans ||612247 ||FGFR3 ||c.1172C>A ||p.Ala391Glu 1048 ||Cerebrotendinous xanthomatosis ||213700 ||CYP27A1 ||c.1016C>T ||p.Thr306Met 80 ||Cerebrotendinous xanthomatosis ||213700 ||CYP27A1 ||c.355delC ||p.Arg119Glyfs*24 1049 ||Cerebrotendinous xanthomatosis ||213700 ||CYP27A1 ||c.819delT ||fs 1050 ||Cerebrotendinous xanthomatosis ||213700 ||CYP27A1 ||c.845-1G>A ||Intron 903 ||Cystic fibrosis ||219700 ||CFTR ||c.1000C>T ||p.Arg334Trp 904 ||Cystic fibrosis ||219700 ||CFTR ||c.1013C>T ||p.Thr338Ile 905 ||Cystic fibrosis ||219700 ||CFTR ||c.1040G>A ||p.Arg347His 906 ||Cystic fibrosis ||219700 ||CFTR ||c.1040G>C ||p.Arg347Pro 907 ||Cystic fibrosis ||219700 ||CFTR ||c.1040G>T ||p.Arg347Leu 908 ||Cystic fibrosis ||219700 ||CFTR ||c.1055G>A ||p.Arg352Gln 909 ||Cystic fibrosis ||219700 ||CFTR ||c.1079C>A ||p.Thr360Ile 910 ||Cystic fibrosis ||219700 ||CFTR ||c.1090T>C ||p.Ser364Pro 59 ||Cystic fibrosis ||219700 ||CFTR ||c.1155insTA ||p.Asn386Ilefs*3 911 ||Cystic fibrosis ||219700 ||CFTR ||c.11C>A ||p.Ser4* 912 ||Cystic fibrosis ||219700 ||CFTR ||c.1364C>A ||p.Ala455Glu 913 ||Cystic fibrosis ||219700 ||CFTR ||c.1418delG ||p.Gly473Glufs*54 914 ||Cystic fibrosis ||219700 ||CFTR ||c.1438G>T ||p.Gly480Cys 915 ||Cystic fibrosis ||219700 ||CFTR ||c.1477C>T ||p.Gln493* 916 ||Cystic fibrosis ||219700 ||CFTR ||c.1516A>G ||p.Ile506Val 60 ||Cystic fibrosis ||219700 ||CFTR ||c.1519_1521delATC ||p.Ile507del 917 ||Cystic fibrosis ||219700 ||CFTR ||c.1521_1523delCTT ||p.Phe508del 918 ||Cystic fibrosis ||219700 ||CFTR ||c.1523T>G ||p.Phe508Cys 919 ||Cystic fibrosis ||219700 ||CFTR ||c.1545_1546delTA ||p.Tyr515* 920 ||Cystic fibrosis ||219700 ||CFTR ||c.1558G>T ||p.Val520Phe 921 ||Cystic fibrosis ||219700 ||CFTR ||c.1572C>A ||p.Cys524* 922 ||Cystic fibrosis ||219700 ||CFTR ||c.1585-1G>A ||Intron 923 ||Cystic fibrosis ||219700 ||CFTR ||c.1624G>T ||p.Gly542* 924 ||Cystic fibrosis ||219700 ||CFTR ||c.1645A>C ||p.Ser549Arg 925 ||Cystic fibrosis ||219700 ||CFTR ||c.1646G>A ||p.Ser549Asn 61 ||Cystic fibrosis ||219700 ||CFTR ||c.1646G>T ||p.Ser549Ile 926 ||Cystic fibrosis ||219700 ||CFTR ||c.1647T>G ||p.Ser549Arg 927 ||Cystic fibrosis ||219700 ||CFTR ||c.1652G>A ||p.Gly551Asp 928 ||Cystic fibrosis ||219700 ||CFTR ||c.1654C>T ||p.Gln552* 929 ||Cystic fibrosis ||219700 ||CFTR ||c.1657C>T ||p.Arg553* 930 ||Cystic fibrosis ||219700 ||CFTR ||c.1675G>A ||p.Ala559Thr 931 ||Cystic fibrosis ||219700 ||CFTR ||c.1679+1634A>G ||Intron 932 ||Cystic fibrosis ||219700 ||CFTR ||c.1679G>C ||p.Arg560Thr 933 ||Cystic fibrosis ||219700 ||CFTR ||c.1680-1G>A ||Intron 934 ||Cystic fibrosis ||219700 ||CFTR ||c.1721C>A ||p.Pro574His 935 ||Cystic fibrosis ||219700 ||CFTR ||c.1766+1G>A ||Intron 936 ||Cystic fibrosis ||219700 ||CFTR ||c.1766+5G>T ||Intron 937 ||Cystic fibrosis ||219700 ||CFTR ||c.178G>T ||p.Glu60* 938 ||Cystic fibrosis ||219700 ||CFTR ||c.1817_1900del84 ||p.Met607_Gln634del 939 ||Cystic fibrosis ||219700 ||CFTR ||c.1911delG ||p.Gln637Hisfs*26 940 ||Cystic fibrosis ||219700 ||CFTR ||c.1923_1931del9insA ||p.Ser641Argfs*5 941 ||Cystic fibrosis ||219700 ||CFTR ||c.1973_1985del13insAGAAA ||p.Arg658Lysfs*4 942 ||Cystic fibrosis ||219700 ||CFTR ||c.1976delA ||p.Asn659Ilefs*4 943 ||Cystic fibrosis ||219700 ||CFTR ||c.200C>T ||p.Pro67Leu 944 ||Cystic fibrosis ||219700 ||CFTR ||c.2051_2052delAAinsG ||p.Lys684Serfs*38 945 ||Cystic fibrosis ||219700 ||CFTR ||c.2052_2053insA ||p.Gln685Thrfs*4 946 ||Cystic fibrosis ||219700 ||CFTR ||c.2052delA ||p.Lys684Asnfs*38 947 ||Cystic fibrosis ||219700 ||CFTR ||c.2125C>T ||p.Arg709* 948 ||Cystic fibrosis ||219700 ||CFTR ||c.2128A>T ||p.Lys710* 949 ||Cystic fibrosis ||219700 ||CFTR ||c.2175_2176insA ||p.Glu726Argfs*4 950 ||Cystic fibrosis ||219700 ||CFTR ||c.223C>T ||p.Arg75* 951 ||Cystic fibrosis ||219700 ||CFTR ||c.2290C>T ||p.Arg764* 952 ||Cystic fibrosis ||219700 ||CFTR ||c.233_234insT ||p.Trp79Leufs*32 953 ||Cystic fibrosis ||219700 ||CFTR ||c.2424_2425insAT ||p.Ser809Ilefs*13 954 ||Cystic fibrosis ||219700 ||CFTR ||c.254G>A ||p.Gly85Glu 955 ||Cystic fibrosis ||219700 ||CFTR ||c.2619+1Tins ||Intron 956 ||Cystic fibrosis ||219700 ||CFTR ||c.262_263delTT ||p.Leu88Ilefs*22 63 ||Cystic fibrosis ||219700 ||CFTR ||c.2657+5G>A ||Intron 958 ||Cystic fibrosis ||219700 ||CFTR ||c.2668C>T ||p.Gln890* 959 ||Cystic fibrosis ||219700 ||CFTR ||c.273+1G>A ||Intron 960 ||Cystic fibrosis ||219700 ||CFTR ||c.273+3A>C ||Intron 961 ||Cystic fibrosis ||219700 ||CFTR ||c.2737_2738insG ||p.Tyr913* 962 ||Cystic fibrosis ||219700 ||CFTR ||c.274-1G>A ||Intron 963 ||Cystic fibrosis ||219700 ||CFTR ||c.274G>A ||p.Glu92Lys 964 ||Cystic fibrosis ||219700 ||CFTR ||c.274G>T ||p.Glu92* 965 ||Cystic fibrosis ||219700 ||CFTR ||c.2988+1G>A ||Intron 64 ||Cystic fibrosis ||219700 ||CFTR ||c.2989-1G>A ||Intron 966 ||Cystic fibrosis ||219700 ||CFTR ||c.3039delC ||p.Pro1013=fs*10 967 ||Cystic fibrosis ||219700 ||CFTR ||c.3067_3072delATAGTG ||p.Ile1023_Val1024del 968 ||Cystic fibrosis ||219700 ||CFTR ||c.313delA ||p.Ile105Serfs*2 969 ||Cystic fibrosis ||219700 ||CFTR ||c.3196C>T ||p.Arg1066Cys 970 ||Cystic fibrosis ||219700 ||CFTR ||c.3230T>C ||p.Leu1077Pro 971 ||Cystic fibrosis ||219700 ||CFTR ||c.325_327delTATinsG ||p.Tyr109Glyfs*4 972 ||Cystic fibrosis ||219700 ||CFTR ||c.3266G>A ||p.Trp1089* 973 ||Cystic fibrosis ||219700 ||CFTR ||c.3276C>A ||p.Tyr1092* 974 ||Cystic fibrosis ||219700 ||CFTR ||c.3276C>G ||p.Tyr1092* 975 ||Cystic fibrosis ||219700 ||CFTR ||c.3292T>C ||p.Trp1098Arg 976 ||Cystic fibrosis ||219700 ||CFTR ||c.3302T>A ||p.Met1101Lys 977 ||Cystic fibrosis ||219700 ||CFTR ||c.343G>T ||p.Glu115* 978 ||Cystic fibrosis ||219700 ||CFTR ||c.3454G>C ||p.Asp1152His 979 ||Cystic fibrosis ||219700 ||CFTR ||c.3472C>T ||p.Arg1158* 980 ||Cystic fibrosis ||219700 ||CFTR ||c.3484C>T ||p.Arg1162* 981 ||Cystic fibrosis ||219700 ||CFTR ||c.349C>T ||p.Arg117Cys 982 ||Cystic fibrosis ||219700 ||CFTR ||c.350G>A ||p.Arg117His 983 ||Cystic fibrosis ||219700 ||CFTR ||c.3528delC ||p.Thr1176=fs*16 984 ||Cystic fibrosis ||219700 ||CFTR ||c.3529A>T ||p.Lys1177* 985 ||Cystic fibrosis ||219700 ||CFTR ||c.3535_3538delACCA ||p.Thr1179Asnfs*12 986 ||Cystic fibrosis ||219700 ||CFTR ||c.3587C>G ||p.Ser1196* 987 ||Cystic fibrosis ||219700 ||CFTR ||c.3600delA ||p.Asp1201Metfs*10 988 ||Cystic fibrosis ||219700 ||CFTR ||c.3611G>A ||p.Trp1204* 989 ||Cystic fibrosis ||219700 ||CFTR ||c.3612G>A ||p.Trp1204* 990 ||Cystic fibrosis ||219700 ||CFTR ||c.3659delC ||p.Thr1220Lysfs*8 991 ||Cystic fibrosis ||219700 ||CFTR ||c.366T>A ||p.Tyr122* 992 ||Cystic fibrosis ||219700 ||CFTR ||c.3700A>G ||p.Ile1234Val 993 ||Cystic fibrosis ||219700 ||CFTR ||c.3712C>T ||p.Gln1238* 994 ||Cystic fibrosis ||219700 ||CFTR ||c.3717+12191C>T ||Intron 65 ||Cystic fibrosis ||219700 ||CFTR ||c.3731G>A ||p.Gly1244Glu 995 ||Cystic fibrosis ||219700 ||CFTR ||c.3744delA ||p.Ser1248Arg=fs*11 996 ||Cystic fibrosis ||219700 ||CFTR ||c.3752G>A ||p.Ser1251Asn 997 ||Cystic fibrosis ||219700 ||CFTR ||c.3764C>A ||p.Ser1255* 998 ||Cystic fibrosis ||219700 ||CFTR ||c.3773_3774insT ||p.Leu1258Phefs*7 999 ||Cystic fibrosis ||219700 ||CFTR ||c.3846G>A ||p.Trp1282* 1000 ||Cystic fibrosis ||219700 ||CFTR ||c.3882_3885delTATT ||p.Ile1295Phefs*32 1001 ||Cystic fibrosis ||219700 ||CFTR ||c.3909C>G ||p.Asn1303Lys 1002 ||Cystic fibrosis ||219700 ||CFTR ||c.3937C>T ||p.Gln1313* 1003 ||Cystic fibrosis ||219700 ||CFTR ||c.416A>T ||p.His139Leu 1004 ||Cystic fibrosis ||219700 ||CFTR ||c.422C>A ||p.Ala141Asp 1005 ||Cystic fibrosis ||219700 ||CFTR ||c.442delA ||p.Ile148Leufs*5 1006 ||Cystic fibrosis ||219700 ||CFTR ||c.489+1G>T ||Intron 1007 ||Cystic fibrosis ||219700 ||CFTR ||c.531delT ||p.Ile177Metfs*12 1008 ||Cystic fibrosis ||219700 ||CFTR ||c.532G>A ||p.Gly178Arg 1009 ||Cystic fibrosis ||219700 ||CFTR ||c.54-5817_c.273+10124del21081ins14 ||p.Ser18Argfs*16 1010 ||Cystic fibrosis ||219700 ||CFTR ||c.579+1G>T ||Intron 1011 ||Cystic fibrosis ||219700 ||CFTR ||c.579+5G>A ||Intron 1012 ||Cystic fibrosis ||219700 ||CFTR ||c.580-1G>T ||Intron 1013 ||Cystic fibrosis ||219700 ||CFTR ||c.617T>G ||p.Leu206Trp 1014 ||Cystic fibrosis ||219700 ||CFTR ||c.675T>A ||p.Cys225* 1015 ||Cystic fibrosis ||219700 ||CFTR ||c.803delA ||p.Asn268Ilefs*17 1016 ||Cystic fibrosis ||219700 ||CFTR ||c.805_806delAT ||p.Ile269Profs*4 1017 ||Cystic fibrosis ||219700 ||CFTR ||c.933_935delCTT ||p.Phe312del 1018 ||Cystic fibrosis ||219700 ||CFTR ||c.948delT ||p.Phe316Leufs*12 1019 ||Cystic fibrosis ||219700 ||CFTR ||c.988G>T ||p.Gly330* 1030 ||Cystinosis, nephropathic ||219800 ||CTNS ||c.1015G>A ||p.Gly339Arg 1031 ||Cystinosis, nephropathic ||219800 ||CTNS ||c.530A>C ||p.Asn177Thr 1313 ||Cystinuria ||220100 ||SLC7A9 ||c.313G>A ||p.Gly105Arg 1314 ||Cystinuria ||220100 ||SLC7A9 ||c.508G>A ||p.Val170Met 1312 ||Cystinuria ||220100 ||SLC3A1 ||c.808C>T ||p.Arg270* 1149 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.101T>C ||p.Met34Thr 1262 ||Deafness, autosomal recessive 22 ||607039 ||OTOA ||c.1025A>T ||p.Asp356Val 1150 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.109G>A ||p.Val37Ile 1323 ||Deafness, autosomal recessive 7 ||600974 ||TMC1 ||c.1165C>T ||p.Arg389* 1324 ||Deafness, autosomal recessive 7 ||600974 ||TMC1 ||c.1210T>C ||p.Trp404Arg 1151 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.167delT ||p.Leu56Arg*fs 1325 ||Deafness, autosomal recessive 7 ||600974 ||TMC1 ||c.1810C>T ||p.Arg604* 1326 ||Deafness, autosomal recessive 7 ||600974 ||TMC1 ||c.1939T>C ||p.Ser647Pro 1152 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.229T>C ||p.Trp77Arg 1153 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.-23+1G>A ||Intron 1154 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.230G>A ||p.Trp77* 138 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.231G>A ||p.Trp77* 1155 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.235delC ||p.Leu79Cys*fs 1156 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.269T>C ||p.Leu90Pro 1240 ||Deafness, autosomal recessive 30 ||607101 ||MYO3A ||c.3126T>G ||p.Tyr1042* 1157 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.358_360delGAG ||p.Glu120del 1158 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.35delG ||p.Gly12Val*fs 1159 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.370C>T ||p.Gln124* 210 ||Deafness, autosomal recessive 3 ||600316 ||MYO15A ||c.373_374delCG ||p.Arg125Valfs*102 1053 ||Deafness, autosomal recessive 59 ||610220 ||DFNB59 ||c.406C>T ||p.Arg136* 1238 ||Deafness, autosomal recessive 3 ||600316 ||MYO15A ||c.4240G>A ||p.Glu1414Lys 170 ||Deafness, autosomal recessive 77 ||613079 ||LOXHD1 ||c.4714C>T ||p.Arg1572* 1160 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.51_62delCACCAGCATTGGinsA ||fs 1161 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.551G>C ||p.Arg184Pro 1162 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.71G>A ||p.Trp24* 901 ||Deafness, autosomal recessive 12 ||601386 ||CDH23 ||c.7903G>T ||p.Val2635Phe 1239 ||Deafness, autosomal recessive 3 ||600316 ||MYO15A ||c.8183G>A ||p.Arg2728His 1330 ||Deafness, autosomal recessive 8/10 ||601072 ||TMPRSS3 ||c.989delA ||fs 276 ||Deafness, mitochondrial, modifier of ||580000 ||TRMU ||c.28G>T ||p.Ala10Ser 1225 ||Combined factor V and VIII deficiency ||227300 ||LMAN1 ||c.1149+2T>C ||Intron 167 ||Combined factor V and VIII deficiency ||227300 ||LMAN1 ||c.89insG ||p.Asp31Argfs*72 84 ||Desmosterolosis ||602398 ||DHCR24 ||c.307C>T ||p.Arg103Cys 36 ||Diaphanospondylodysostosis ||608022 ||BMPER ||c.310C>T ||p.Gln104* 1126 ||Neuropathy, distal hereditary motor, type V ||600794 ||GARS ||c.1738G>C ||p.Gly580Arg 836 ||Dubin-Johnson syndrome ||237500 ||ABCC2 ||c.1031+4A>G ||Intron 837 ||Dubin-Johnson syndrome ||237500 ||ABCC2 ||c.3449G>A ||p.Arg1150His 838 ||Dubin-Johnson syndrome ||237500 ||ABCC2 ||c.3517A>T ||p.Ile1173Phe 254 ||Anemia, dyserythropoietic congenital, type II ||224100 ||SEC23B ||c.325G>A ||p.Glu109Lys 10 ||Ehlers-Danlos syndrome, type VIIC ||225410 ||ADAMTS2 ||c.673C>T ||p.Gln225* 168 ||Emery-Dreifuss muscular dystrophy 2, AD ||181350 ||LMNA ||c.1580G>C ||p.Arg527Pro 1255 ||Enhanced S-cone syndrome ||268100 ||NR2E3 ||c.119-2A>C ||Intron 1256 ||Enhanced S-cone syndrome ||268100 ||NR2E3 ||c.932G>A ||p.Arg311Gln 1217 ||Epidermolysis bullosa, junctional, non-Herlitz type ||226650 ||LAMB3 ||c.3247C>T ||p.Gln1083* 1076 ||Factor VII deficiency ||227500 ||F7 ||c.1109G>T ||p.Cys370Phe 300 ||Factor VII deficiency ||227500 ||F7 ||c.291+1G>C ||Intron 1077 ||Factor VII deficiency ||227500 ||F7 ||c.911C>T ||p.Ala304Val 1072 ||Factor XI deficiency ||612416 ||F11 ||c.403G>T ||p.Glu135* 1073 ||Factor XI deficiency ||612416 ||F11 ||c.901T>C ||p.Phe301Leu 200 ||Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas ||132600 ||MUTYH ||c.1014G>C ||p.Gln338His 201 ||Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas ||132600 ||MUTYH ||c.1147delC ||p.Ala385Profs*23 202 ||Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas ||132600 ||MUTYH ||c.1187G>A ||p.Gly396Asp 203 ||Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas ||132600 ||MUTYH ||c.1227insGG ||p.Glu410Glyfs*43 204 ||Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas ||132600 ||MUTYH ||c.1258C>A ||p.Leu420Met 205 ||Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas ||132600 ||MUTYH ||c.1437_1439delGGA ||p.Glu480del 206 ||Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas ||132600 ||MUTYH ||c.1477G>T ||p.Val493Phe 207 ||Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas ||132600 ||MUTYH ||c.1544C>T ||p.Ser515Phe 208 ||Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas ||132600 ||MUTYH ||c.536A>G ||p.Tyr179Cys 209 ||Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas ||132600 ||MUTYH ||c.933+3A>C ||p.Gly264Trpfs*7 1204 ||Dysautonomia, familial ||223900 ||IKBKAP ||c.2087G>C ||p.Arg696Pro 1205 ||Dysautonomia, familial ||223900 ||IKBKAP ||c.2204+6T>C ||Intron 1206 ||Dysautonomia, familial ||223900 ||IKBKAP ||c.2741C>T ||p.Pro914Leu 171 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.1105C>T ||p.Pro369Ser 172 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.1894G>A ||p.Gly632Ser 173 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.2040G>A ||p.Met680Ile 174 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.2040G>C ||p.Met680Ile 175 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.2080A>G ||p.Met694Val 176 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.2080A>T ||p.Met694Leu 177 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.2082G>A ||p.Met694Ile 178 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.2084A>G ||p.Lys695Arg 179 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.2084A>T ||p.Lys695Met 180 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.2177T>C ||p.Val726Ala 181 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.2230G>T ||p.Ala744Ser 182 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.2282G>A ||p.Arg761His 183 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.442G>C ||p.Glu148Gln 1086 ||Fanconi anemia, complementation group A ||227650 ||FANCA ||c.2172_2173insG ||fs 1087 ||Fanconi anemia, complementation group A ||227650 ||FANCA ||c.2574C>G ||p.Ser858Arg 1088 ||Fanconi anemia, complementation group A ||227650 ||FANCA ||c.4275delT ||fs 1089 ||Fanconi anemia, complementation group A ||227650 ||FANCA ||c.890_893delCTGG ||fs 260 ||Fanconi-Bickel syndrome ||227810 ||SLC2A2 ||c.901C>T ||p.Arg301* 1090 ||Fanconi anemia, complementation group C ||227645 ||FANCC ||c.1642C>T ||p.Arg548* 1091 ||Fanconi anemia, complementation group C ||227645 ||FANCC ||c.1661T>C ||p.Leu554Pro 1092 ||Fanconi anemia, complementation group C ||227645 ||FANCC ||c.37C>T ||p.Gln13* 1093 ||Fanconi anemia, complementation group C ||227645 ||FANCC ||c.456+4A>T ||Intron 1094 ||Fanconi anemia, complementation group C ||227645 ||FANCC ||c.553C>T ||p.Arg185* 1095 ||Fanconi anemia, complementation group C ||227645 ||FANCC ||c.584A>T ||p.Asp195Val 1096 ||Fanconi anemia, complementation group C ||227645 ||FANCC ||c.67delG ||p.Asp23Ile*fs 1166 ||Polymicrogyria, bilateral frontoparietal ||606854 ||GPR56 ||c.1046G>C ||p.Trp349Ser 1167 ||Polymicrogyria, bilateral frontoparietal ||606854 ||GPR56 ||c.1167+3G>C ||Intron 1168 ||Polymicrogyria, bilateral frontoparietal ||606854 ||GPR56 ||c.1693C>T ||p.Arg565Trp 1169 ||Polymicrogyria, bilateral frontoparietal ||606854 ||GPR56 ||c.739_745delCAGGACC ||fs 246 ||Fundus albipunctatus ||136880 ||RDH5 ||c.160C>T ||p.Arg54* 247 ||Fundus albipunctatus ||136880 ||RDH5 ||c.71_74delTGCC ||p.Leu24Profs*36 1115 ||Galactosemia ||230400 ||GALT ||c.152G>A ||p.Arg51Gln 1116 ||Galactosemia ||230400 ||GALT ||c.253-2A>G ||Intron 1117 ||Galactosemia ||230400 ||GALT ||c.404C>T ||p.Ser135Leu 1118 ||Galactosemia ||230400 ||GALT ||c.413C>T ||p.Thr138Met 129 ||Galactosemia ||230400 ||GALT ||c.563A>G ||p.Gln188Arg 129 ||Galactosemia ||230400 ||GALT ||c.563A>G ||p.Gln188Arg 1120 ||Galactosemia ||230400 ||GALT ||c.584T>C ||p.Leu195Pro 1121 ||Galactosemia ||230400 ||GALT ||c.626A>G ||p.Tyr100Cys 1122 ||Galactosemia ||230400 ||GALT ||c.652C>T ||p.Leu218= 1123 ||Galactosemia ||230400 ||GALT ||c.855G>T ||p.Lys285Asn 1124 ||Galactosemia ||230400 ||GALT ||c.940A>G ||p.Asn314Asp 1125 ||Galactosemia ||230400 ||GALT ||Large deletion ||Large deletion 257 ||Muscular dystrophy, limb-girdle, type 2C ||253700 ||SGCG ||c.525delT ||p.Phe175Leufs*20 1127 ||Gaucher disease, type I ||230800 ||GBA ||c.1226A>G ||p.Asn409Ser 1128 ||Gaucher disease, type I ||230800 ||GBA ||c.1263_1317del55 ||fs 1129 ||Gaucher disease, type I ||230800 ||GBA ||c.1294T>A ||p.Trp432Arg 1130 ||Gaucher disease, type I ||230800 ||GBA ||c.1297G>T ||p.Val433Leu 1131 ||Gaucher disease, type I ||230800 ||GBA ||c.1342G>C ||p.Asp448His 1132 ||Gaucher disease, type I ||230800 ||GBA ||c.1448T>C ||p.Leu483Pro 1133 ||Gaucher disease, type I ||230800 ||GBA ||c.1504C>T ||p.Arg502Cys 1134 ||Gaucher disease, type I ||230800 ||GBA ||c.1505G>A ||p.Arg502His 1135 ||Gaucher disease, type I ||230800 ||GBA ||c.1604G>A ||p.Arg535His 1136 ||Gaucher disease, type I ||230800 ||GBA ||c.259C>T ||p.Arg87Trp 133 ||Gaucher disease, type I ||230800 ||GBA ||c.84insG ||p.Leu29Alafs*18 133 ||Gaucher disease, type I ||230800 ||GBA ||c.84insG ||p.Leu29Alafs*18 135 ||Glutaricaciduria, type I ||231670 ||GCDH ||c.1173delG ||p.Asn392Metfs*9 1139 ||Glutaricaciduria, type I ||231670 ||GCDH ||c.1204C>T ||p.Arg402Trp 1140 ||Glutaricaciduria, type I ||231670 ||GCDH ||c.1247C>T ||p.Thr416Ile 1141 ||Glutaricaciduria, type I ||231670 ||GCDH ||c.1262C>T ||p.Ala421Val 1142 ||Glutaricaciduria, type I ||231670 ||GCDH ||c.301G>A ||p.Gly101Arg 298 ||Glutaric acidemia IIC ||231680 ||ETFDH ||c.1084G>A ||p.Gly362Arg 262 ||Glycogen storage disease Ib ||232220 ||SLC37A4 ||c.1042_1043delCT ||p.Leu348Valfs*53 241 ||McArdle disease ||232600 ||PYGM ||c.632delG ||p.Ser211Thrfs*84 211 ||Gray platelet syndrome ||139090 ||NBEAL2 ||c.2701C>T ||p.Arg901* 1099 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.1039C>T ||p.Gln347* 1100 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.247C>T ||p.Arg83Cys 1101 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.248G>A ||p.Arg83His 1102 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.380_381insTA ||p.Tyr127delinsTyrThr*fs 1103 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.497T>G ||p.Val166Gly 1104 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.508C>T ||p.Arg170* 1105 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.562G>C ||p.Gly188Arg 1106 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.648G>T ||p.Leu216= 1107 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.724C>T ||p.Gln242* 1108 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.79delC ||p.Gln27Arg*fs 1109 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.809G>T ||p.Gly270Val 1110 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.979_981delTTC ||p.Phe327del 134 ||Glycogen storage disease IV ||232500 ||GBE1 ||c.986A>C ||p.Tyr329Ser 847 ||Glycogen storage disease III ||232400 ||AGL ||c.1222C>T ||p.Arg408* 848 ||Glycogen storage disease III ||232400 ||AGL ||c.4455delT ||p.Leu1485=fs* 1032 ||Haim-Munk syndrome ||245010 ||CTSC ||c.857A>G ||p.Gln286Arg 144 ||Hemochromatosis ||235200 ||HFE ||c.187C>G ||p.His63Asp 145 ||Hemochromatosis ||235200 ||HFE ||c.193A>T ||p.Ser65Cys 146 ||Hemochromatosis ||235200 ||HFE ||c.845G>A ||p.Cys282Tyr 1172 ||Sickle Cell Anemia ||603903 ||HBB ||c.19G>A ||p.Glu7Gln 1173 ||Sickle Cell Anemia ||603903 ||HBB ||c.20A>T ||p.Glu7Val 1174 ||Sickle Cell Anemia ||603903 ||HBB ||c.364G>A ||p.Glu122Lys 1175 ||Sickle Cell Anemia ||603903 ||HBB ||c.364G>C ||p.Glu122Gln 1171 ||Hemoglobin H disease, nondeletional ||613978 ||HBA2 ||c.427T>C ||p.*143Gln 1176 ||Sickle Cell Anemia ||603903 ||HBB ||c.79G>A ||p.Glu27Lys 58 ||Complement factor H deficiency ||609814 ||CFH ||c.3674A>T;3675_3699del24 ||p.Tyr1225Phefs*4 274 ||Deafness, autosomal recessive 7 ||600974 ||TMC1 ||c.100C>T ||p.Arg34* 196 ||Deafness, nonsyndromic sensorineural, mitochondrial ||500008 ||MT-RNR1 ||m.1555A>G ||mtDNA 857 ||Megaloblastic anemia-1, Norwegian type ||261100 ||AMN ||c.208-2A>G ||Intron 98 ||Exostoses, multiple, type 1 ||133700 ||EXT1 ||c.1415T>A ||p.Leu472* 303 ||Colorectal cancer, hereditary nonpolyposis, type 2 ||609310 ||MLH1 ||c.1770_1771 delGA ||p.Asp591* 186 ||Colorectal cancer, hereditary nonpolyposis, type 1 ||120435 ||MSH2 ||c.1906G>C ||p.Ala636Pro 188 ||Colorectal cancer, hereditary nonpolyposis, type 5 ||609310 ||MSH6 ||c.3516_3519delAGTG ||p.Arg1172Serfs*11 189 ||Colorectal cancer, hereditary nonpolyposis, type 5 ||609310 ||MSH6 ||c.3959_3962delCAAG ||p.Ala1320Glufs*6 190 ||Colorectal cancer, hereditary nonpolyposis, type 5 ||609310 ||MSH6 ||c.3984insGTCA ||p.Leu1330Valfs*12 187 ||Colorectal cancer, hereditary nonpolyposis, type 1 ||120435 ||MSH2 ||c.970_971delCA ||p.Gln324Valfs*8 272 ||Spastic paraplegia 49, autosomal recessive ||615031 ||TECPR2 ||c.3416delT ||p.Leu1139Argfs*75 1213 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMB3 ||c.1903C>T ||p.Arg635* 1212 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMA3 ||c.1981C>T ||p.Arg661* 1214 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMB3 ||c.3024delT ||fs 1215 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMB3 ||c.430C>T ||p.Arg144* 1216 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMB3 ||c.727C>T ||p.Gln243* 1199 ||Hermansky-Pudlak syndrome 6 ||614075 ||HPS6 ||c.1065insG ||fs 1195 ||Hermansky-Pudlak syndrome 3 ||614072 ||HPS3 ||c.1163+1G>A ||Intron 1196 ||Hermansky-Pudlak syndrome 3 ||614072 ||HPS3 ||c.1691+2T>G ||Intron 1197 ||Hermansky-Pudlak syndrome 3 ||614072 ||HPS3 ||c.2482-2A>G ||Intron 1198 ||Hermansky-Pudlak syndrome 3 ||614072 ||HPS3 ||Large deletion ||Large deletion 1164 ||Inclusion body myopathy, autosomal recessive ||600737 ||GNE ||c.2135T>C ||p.Met712Thr 1194 ||HMG-CoA lyase deficiency ||246450 ||HMGCL ||c.122G>A ||p.Arg41Gln 252 ||Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis ||613845 ||SARS2 ||c.1169A>G ||p.Asp390Gly 1200 ||Mucopolysaccharidosis Ih ||607014 ||IDUA ||c.1205G>A ||p.Trp402* 1201 ||Mucopolysaccharidosis Ih ||607014 ||IDUA ||c.1598C>G ||p.Pro533Arg 1202 ||Mucopolysaccharidosis Ih ||607014 ||IDUA ||c.208C>T ||p.Gln70* 1219 ||Hypercholesterolemia, familial ||143890 ||LDLR ||c.2043C>A ||p.Cys681* 1220 ||Hypercholesterolemia, familial ||143890 ||LDLR ||c.652_654delGGT ||p.Gly218del 1221 ||Hypercholesterolemia, familial ||143890 ||LDLR ||c.681C>G ||p.Asp227Glu 1222 ||Hypercholesterolemia, familial ||143890 ||LDLR ||Large deletion ||Large deletion 1055 ||Hyperoxaluria, primary, type III ||613616 ||DHDPSL ||c.860G>T ||p.Gly287Val 1056 ||Hyperoxaluria, primary, type III ||613616 ||DHDPSL ||c.944_946delAGG ||fs 849 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.121G>A ||p.Gly41Arg 850 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.731T>C ||p.Ile244Thr 12 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.33insC ||p.Lys12Glnfs*156 13 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.584T>G ||p.Met195Arg 14 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.697C>T ||p.Arg233Cys 15 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.727G>C ||p.Asp243His 16 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.837T>G ||p.Ile279Met 17 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.997A>T ||p.Arg333* 113 ||Hypochondroplasia ||146000 ||FGFR3 ||c.1620C>A ||p.Asn540Lys 114 ||Hypochondroplasia ||146000 ||FGFR3 ||c.1620C>G ||p.Asn540Lys 7 ||Hyperinsulinemic hypoglycemia, familial, 1 ||256450 ||ABCC8 ||c.2506C>T ||p.Arg836* 158 ||Hypogonadotropic hypogonadism 8 with or without anosmia ||614837 ||KISS1R ||c.305T>C ||p.Leu102Pro 159 ||Hypogonadotropic hypogonadism 8 with or without anosmia ||614837 ||KISS1R ||c.815T>C ||p.Phe272Ser 1332 ||Hypothyroidism, congenital, nongoitrous, 1 ||275200 ||TSHR ||c.1825C>T ||p.Arg609* 1333 ||Hypothyroidism, congenital, nongoitrous, 1 ||275200 ||TSHR ||c.1957C>G ||p.Leu653Val 270 ||Hypoparathyroidism-retardation-dysmorphism syndrome ||241410 ||TBCE ||c.155_166delGCCACGAAGGGA ||p.Ser52Thrfs*473 291 ||Hypophosphatasia, infantile ||241500 ||ALPL ||c.1348C>T ||p.Arg450Cys 122 ||Ichthyosis vulgaris ||146700 ||FLG ||c.1501C>T ||p.Arg501* 123 ||Ichthyosis vulgaris ||146700 ||FLG ||c.2282_2285delCAGT ||p.Ser762Cysfs*36 275 ||Dystonia-1, torsion ||128100 ||TOR1A ||c.904_906delGAG ||p.Glu302del 217 ||Striatonigral degeneration, infantile ||271930 ||NUP62 ||c.1172A>C ||p.Gln391Pro 1228 ||Microcephaly, postnatal progressive, with seizures and brain atrophy ||613668 ||MED17 ||c.1112T>C ||p.Leu371Pro 226 ||Infantile neuroaxonal dystrophy 1 ||256600 ||PLA2G6 ||c.2070_2072delTGT ||p.Val691del 258 ||Sialic acid storage disorder, infantile ||269920 ||SLC17A5 ||c.983G>A ||p.Gly328Glu 137 ||Growth hormone deficiency, isolated, type IB ||262400 ||GHRHR ||c.1069C>T ||p.Arg357Cys 299 ||Growth hormone deficiency, isolated, type IA ||262400 ||GH1 ||c.456+5G>C ||Intron 1211 ||Isovaleric acidemia ||243500 ||IVD ||c.941C>T ||p.Ala314Val 235 ||Metaphyseal chondrodysplasia, Murk Jansen type ||156400 ||PTH1R ||c.1228A>C ||p.Thr410Pro 236 ||Metaphyseal chondrodysplasia, Murk Jansen type ||156400 ||PTH1R ||c.668A>G ||p.His223Arg 1327 ||Joubert syndrome 2 ||608091 ||TMEM216 ||c.218G>A ||p.Arg73His 1328 ||Joubert syndrome 2 ||608091 ||TMEM216 ||c.218G>T ||p.Arg73Leu 1329 ||Joubert syndrome 2 ||608091 ||TMEM216 ||c.230G>C ||p.Gly77Ala 164 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMC2 ||c.1756C>T ||p.Arg586* 162 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMB3 ||c.2166C>A ||p.Tyr722* 163 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMB3 ||c.2914C>T ||p.Arg972* 160 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMA3 ||c.2975delA ||p.Asn992Ilefs*47 161 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMA3 ||c.4815G>T ||p.Lys1605Asn 249 ||Kohlschutter-Tonz syndrome ||226750 ||ROGDI ||c.469C>T ||p.Arg157* 1113 ||Krabbe disease ||245200 ||GALC ||c.1630G>A ||p.Asp544Asn 1114 ||Krabbe disease ||245200 ||GALC ||c.1796T>G ||p.Ile599Ser 1144 ||Laron dwarfism ||262500 ||GHR ||c.11G>A ||p.Trp4* 1145 ||Laron dwarfism ||262500 ||GHR ||c.594A>G ||p.Glu198= 1146 ||Laron dwarfism ||262500 ||GHR ||c.686G>A ||p.Arg229His 1147 ||Laron dwarfism ||262500 ||GHR ||c.703C>T ||p.Arg235* 1148 ||Laron dwarfism ||262500 ||GHR ||c.744delT ||fs 851 ||Leber congenital amaurosis 4 ||604393 ||AIPL1 ||c.211G>T ||p.Val71Phe 141 ||Leber congenital amaurosis 1 ||204000 ||GUCY2D ||c.389delC ||p.Pro130Leufs*36 1029 ||Leber congenital amaurosis 8 ||613835 ||CRB1 ||c.4121_4130delCAACTCAGGG ||fs 1218 ||Leber congenital amaurosis 5 ||604537 ||LCA5 ||c.835C>T ||p.Gln279* 1293 ||Leber congenital amaurosis 2 ||204100 ||RPE65 ||c.95-2A>T ||Intron 195 ||Leber hereditary optic neuropathy ||535000 ||MT-ND6 ||c.14484T>C ||p.Met64Val 194 ||Leber hereditary optic neuropathy ||535000 ||MT-ND4 ||m.11778G>A ||p.Arg340His 1320 ||Leigh syndrome, due to COX deficiency ||256000 ||SURF1 ||c.312_321delTCTGCCAGCCinsAT ||fs 1322 ||Leigh syndrome, due to COX deficiency ||256000 ||SURF1 ||c.574_575insGTGC ||fs 269 ||Leigh syndrome, due to COX deficiency ||256000 ||SURF1 ||c.845_846delCT ||p.Ser282Cysfs*9 55 ||Leigh syndrome ||256000 ||C20ORF7 ||c.749 G>T ||p.Gly250Val 191 ||Leigh Syndrome ||256000 ||MT-ATP6 ||m.8993T>G ||p.Leu156Arg 237 ||LEOPARD syndrome 1 ||151100 ||PTPN11 ||c.1403C>T ||p.Thr468Met 238 ||LEOPARD syndrome 1 ||151100 ||PTPN11 ||c.836A>G ||p.Tyr279Cys 1063 ||Muscular dystrophy, limb-girdle, type 2B ||253601 ||DYSF ||c.2372C>G ||p.Pro791Arg 1064 ||Muscular dystrophy, limb-girdle, type 2B ||253601 ||DYSF ||c.2779delG ||fs 1065 ||Muscular dystrophy, limb-girdle, type 2B ||253601 ||DYSF ||c.4872_4876delGCCCGinsCCCC ||fs 1066 ||Muscular dystrophy, limb-girdle, type 2B ||253601 ||DYSF ||c.5038_5057+3ins23 ||fs 1067 ||Muscular dystrophy, limb-girdle, type 2B ||253601 ||DYSF ||c.5057+5G>A ||Intron 1068 ||Muscular dystrophy, limb-girdle, type 2B ||253601 ||DYSF ||c.5429G>A ||p.Arg1810Lys 265 ||Meleda disease ||248300 ||SLURP1 ||c.256G>A ||p.Gly86Arg 266 ||Meleda disease ||248300 ||SLURP1 ||c.256G>C ||p.Gly86Arg 169 ||Mandibuloacral dysplasia ||248370 ||LMNA ||c.1580G>A ||p.Arg527His 105 ||Marfan syndrome ||154700 ||FBN1 ||c.3037G>A ||p.Gly1013Arg 106 ||Marfan syndrome ||154700 ||FBN1 ||c.3037G>C ||p.Gly1013Arg 107 ||Marfan syndrome ||154700 ||FBN1 ||c.3410G>C ||p.Arg1137Pro 140 ||Meconium ileus ||614665 ||GUCY2C ||c.1160A>G ||p.Asp387Gly 57 ||Melanoma, cutaneous malignant, 2 ||600160 ||CDKN2A ||c.176T>G ||p.Val59Gly 199 ||MELAS syndrome ||540000 ||MT-TL1 ||m.3243A>G ||mtDNA 198 ||MERRF syndrome ||545000 ||MT-TK ||m.8344A>G ||mtDNA 24 ||Metachromatic leukodystrophy ||250100 ||ARSA ||c.576G>C ||p.Gln192His 192 ||Homocystinuria due to MTHFR deficiency ||236250 ||MTHFR ||c.474A>T ||p.Gly158Gly 1250 ||Complex I, mitochondrial respiratory chain, deficiency of ||252010 ||NDUFS6 ||c.344G>A ||p.Cys115Tyr 280 ||Mitochondrial complex III deficiency ||124000 ||UQCRQ ||c.134C>T ||p.Ser45Phe 297 ||Mitochondrial DNA depletion syndrome 5 ||612073 ||SUCLA2 ||c.789del43ins5 ||p.Asp263Glufs*1 83 ||Mitochondrial DNA depletion syndrome 3 ||251880 ||DGUOK ||c.255delA ||p.Ala86Profs*13 273 ||Mitochondrial DNA depletion syndrome 2 ||609560 ||TK2 ||c.635T>A ||p.Ile212Asn 1287 ||Mitochondrial myopathy and sideroblastic anemia 1 ||600462 ||PUS1 ||c.430C>T ||p.Arg116Trp 184 ||Megalencephalic leukoencephalopathy with subcortical cysts ||604004 ||MLC1 ||c.135insC ||p.Cys46Alafs*12 1229 ||Megalencephalic leukoencephalopathy with subcortical cysts ||604004 ||MLC1 ||c.176G>A ||p.Gly59Glu 1230 ||Megalencephalic leukoencephalopathy with subcortical cysts ||604004 ||MLC1 ||c.274C>T ||p.Pro92Ser 1231 ||Megalencephalic leukoencephalopathy with subcortical cysts ||604004 ||MLC1 ||c.278C>T ||p.Ser93Leu 859 ||Metachromatic leukodystrophy ||250100 ||ARSA ||c.1136C>T ||p.Pro379Leu 860 ||Metachromatic leukodystrophy ||250100 ||ARSA ||c.1283C>T ||p.Pro428Leu 861 ||Metachromatic leukodystrophy ||250100 ||ARSA ||c.465+1G>A ||Intron 863 ||Metachromatic leukodystrophy ||250100 ||ARSA ||c.827C>T ||p.Thr276Met 1165 ||Mucolipidosis III gamma ||252605 ||GNPTG ||c.499insC ||fs 1226 ||Mucolipidosis IV ||252650 ||MCOLN1 ||c.406-2A>G ||Intron 1227 ||Mucolipidosis IV ||252650 ||MCOLN1 ||Large deletion ||Large deletion 1232 ||Molybdenum cofactor deficiency, type A ||252150 ||MOCS1 ||c.722delT ||fs 1233 ||Molybdenum cofactor deficiency, type A ||252150 ||MOCS1 ||c.971G>A ||p.GLY324GLU 1059 ||Hypotrichosis, localized, autosomal recessive ||607903 ||DSG4 ||c.216+1G>T ||Intron 1060 ||Hypotrichosis, localized, autosomal recessive ||607903 ||DSG4 ||c.763delT ||fs 1061 ||Hypotrichosis, localized, autosomal recessive ||607903 ||DSG4 ||c.800C>G ||p.Pro267Arg 1062 ||Hypotrichosis, localized, autosomal recessive ||607903 ||DSG4 ||c.865C>T ||p.Arg289* 892 ||Maple syrup urine disease, type Ia ||248600 ||BCKDHA ||c.859C>T ||p.Arg287* 893 ||Maple syrup urine disease, type Ib ||248600 ||BCKDHB ||c.1016C>T ||p.Ser289Leu 894 ||Maple syrup urine disease, type Ib ||248600 ||BCKDHB ||c.1114G>T ||p.Glu372* 895 ||Maple syrup urine disease, type Ib ||248600 ||BCKDHB ||c.548G>C ||p.Arg183Pro 896 ||Maple syrup urine disease, type Ib ||248600 ||BCKDHB ||c.832G>A ||p.Gly278Ser 1051 ||Maple syrup urine disease, type II ||248600 ||DBT ||c.581C>G ||p.Ser194* 1052 ||Maple syrup urine disease, type II ||248600 ||DBT ||Large deletion ||Large deletion 1057 ||Maple syrup urine disease, type III ||248600 ||DLD ||c.105insA ||fs 1058 ||Maple syrup urine disease, type III ||248600 ||DLD ||c.685G>T ||p.Gly229Cys 115 ||Muenke syndrome ||602849 ||FGFR3 ||c.749C>G ||p.Pro250Arg 224 ||Multiple congenital anomalies-hypotonia-seizures syndrome 1 ||614080 ||PIGN ||c.2126G>A ||p.Arg709Gln 277 ||Mitochondrial DNA depletion syndrome 1 ||603041 ||TYMP ||c.433G>A ||p.Gly145Arg 301 ||Inclusion body myopathy-3 ||605637 ||MYH2 ||c.2400delG ||p.Phe801SerfsX28 1251 ||Nemaline myopathy 2, autosomal recessive ||256030 ||NEB ||Large deletion ||fs 155 ||Nephronophthisis 2, infantile ||602088 ||INVS ||c.2719C>T ||p.Arg907* 215 ||Nephrotic syndrome, type 2 ||600995 ||NPHS2 ||c.412C>T ||p.Arg138* 212 ||Neurofibromatosis, type 1 ||162200 ||NF1 ||c.1541_1542delAG ||p.Gln514Argfs*43 213 ||Neurofibromatosis, type 1 ||162200 ||NF1 ||c.5839C>T ||p.Arg1947* 1315 ||Niemann-Pick disease, type A ||257200 ||SMPD1 ||c.1493G>T ||p.Arg498Leu 1316 ||Niemann-Pick disease, type A ||257200 ||SMPD1 ||c.573delT ||fs 1317 ||Niemann-Pick disease, type A ||257200 ||SMPD1 ||c.911T>C ||p.Leu304Pro 1318 ||Niemann-Pick disease, type A ||257200 ||SMPD1 ||c.996delC ||fs 1319 ||Niemann-Pick disease, type B ||607616 ||SMPD1 ||c.1828_1830delCGC ||p.Arg610del 858 ||Glycine encephalopathy ||605899 ||AMT ||c.125A>G ||p.His42Arg 1163 ||Glycine encephalopathy ||605899 ||GLDC ||c.2405C>T ||p.Ala802Val 139 ||Glycine encephalopathy ||605899 ||GLDC ||c.2607C>A ||p.Pro869= 239 ||Noonan syndrome 1 ||163950 ||PTPN11 ||c.922A>G ||p.Asn308Asp 240 ||Noonan syndrome 1 ||163950 ||PTPN11 ||c.923A>G ||p.Asn308Ser 278 ||Albinism, oculocutaneous, type I ||203100 ||TYR ||c.1037-7T>A ||Intron 279 ||Albinism, oculocutaneous, type I ||203100 ||TYR ||c.649delC ||p.Arg217Glyfs*9 218 ||Albinism, oculocutaneous, type II ||203200 ||OCA2 ||c.2372_2373delTC ||p.Val791Glyfs*58 268 ||Osteopetrosis, autosomal recessive 8 ||615085 ||SNX10 ||c.152G>A ||p.Arg51Gln 271 ||Osteopetrosis, autosomal recessive 1 ||259700 ||TCIRG1 ||c.1331G>T ||p.Arg444Leu 1296 ||Pontocerebellar hypoplasia type 2D ||613811 ||SEPSECS ||c.1001A>G ||p.Tyr334Cys 1297 ||Pontocerebellar hypoplasia type 2D ||613811 ||SEPSECS ||c.715G>A ||p.Ala239Thr 292 ||Leukodystrophy, hypomyelinating, 3 ||260600 ||AIMP1 ||c.292_293delCA ||p.Gln98Valfs*30 154 ||Leukodystrophy, hypomyelinating, 4 ||612233 ||HSPD1 ||c.86A>G ||p.Asp29Gly 1302 ||Pendred syndrome ||274600 ||SLC26A4 ||c.1001G>T ||p.Gly334Val 1303 ||Pendred syndrome ||274600 ||SLC26A4 ||c.1151A>G ||p.Glu384Gly 1304 ||Pendred syndrome ||274600 ||SLC26A4 ||c.1198delT ||fs 1305 ||Pendred syndrome ||274600 ||SLC26A4 ||c.1246A>C ||p.Thr416Pro 1306 ||Pendred syndrome ||274600 ||SLC26A4 ||c.1341+1delG ||fs 1307 ||Pendred syndrome ||274600 ||SLC26A4 ||c.2000T>G ||p.Phe667Cys 1308 ||Pendred syndrome ||274600 ||SLC26A4 ||c.2168A>G ||p.His723Arg 1309 ||Pendred syndrome ||274600 ||SLC26A4 ||c.349C>T ||p.Leu117Phe 1310 ||Pendred syndrome ||274600 ||SLC26A4 ||c.707T>C ||p.Leu236Pro 1311 ||Pendred syndrome ||274600 ||SLC26A4 ||c.716T>A ||p.Val239Asp 839 ||Hyperinsulinemic hypoglycemia, familial, 1 ||256450 ||ABCC8 ||c.3989-9G>A ||Intron 840 ||Hyperinsulinemic hypoglycemia, familial, 1 ||256450 ||ABCC8 ||c.4159_4161delTTC ||p.Phe1387del 841 ||Hyperinsulinemic hypoglycemia, familial, 1 ||256450 ||ABCC8 ||c.560T>A ||p.Val187Asp 219 ||Phenylketonuria ||261600 ||PAH ||c.722G>A ||p.Arg241His 1263 ||Phenylketonuria ||261600 ||PAH ||c.1045T>C ||p.Ser349Pro 1264 ||Phenylketonuria ||261600 ||PAH ||c.1066-11G>A ||Intron 1265 ||Phenylketonuria ||261600 ||PAH ||c.1208C>T ||p.Ala403Val 1266 ||Phenylketonuria ||261600 ||PAH ||c.1222C>T ||p.Arg408Trp 1267 ||Phenylketonuria ||261600 ||PAH ||c.1315+1G>A ||Intron 1268 ||Phenylketonuria ||261600 ||PAH ||c.143T>C ||p.Leu48Ser 1269 ||Phenylketonuria ||261600 ||PAH ||c.165delT ||fs 1270 ||Phenylketonuria ||261600 ||PAH ||c.165T>G ||p.Phe55Leu 1271 ||Phenylketonuria ||261600 ||PAH ||c.441+5G>T ||Intron 1272 ||Phenylketonuria ||261600 ||PAH ||c.473G>A ||p.Arg158Gln 1273 ||Phenylketonuria ||261600 ||PAH ||c.533A>G ||p.Glu178Gly 1274 ||Phenylketonuria ||261600 ||PAH ||c.689T>C ||p.Val230Ala 1275 ||Phenylketonuria ||261600 ||PAH ||c.754C>T ||p.Arg252Trp 1276 ||Phenylketonuria ||261600 ||PAH ||c.782G>A ||p.Arg261Gln 1277 ||Phenylketonuria ||261600 ||PAH ||c.842C>T ||p.Pro281Leu 1278 ||Phenylketonuria ||261600 ||PAH ||c.898G>T ||p.Ala300Ser 852 ||Autoimmune polyendocrinopathy syndrome , type I ||240300 ||AIRE ||c.1163_1164insA ||p.Met388fs*35 853 ||Autoimmune polyendocrinopathy syndrome , type I ||240300 ||AIRE ||c.247A>G ||p.Lys83Glu 854 ||Autoimmune polyendocrinopathy syndrome , type I ||240300 ||AIRE ||c.254A>G ||p.Tyr85Cys 855 ||Autoimmune polyendocrinopathy syndrome , type I ||240300 ||AIRE ||c.769C>T ||p.Arg257* 856 ||Autoimmune polyendocrinopathy syndrome , type I ||240300 ||AIRE ||c.967_979delCTGTCCCCTCCGC ||p.Cys322fs*372 1111 ||Glycogen storage disease II ||232300 ||GAA ||c.1935C>A ||p.Asp645Glu 1112 ||Glycogen storage disease II ||232300 ||GAA ||c.-32-13T>G ||5' UTR 290 ||Glycogen storage disease II ||232300 ||GAA ||c.1064T>C ||p.Leu355Pro 127 ||Glycogen storage disease II ||232300 ||GAA ||c.1210G>A ||p.Asp404Asn 288 ||Glycogen storage disease II ||232300 ||GAA ||c.670C>T ||p.Arg224Trp 250 ||Ciliary dyskinesia, primary, 12 ||612650 ||RSPH9 ||c.804_806delGAA ||p.Lys268del 93 ||Ciliary dyskinesia, primary, 9 ||612444 ||DNAI2 ||c.1304G>A ||p.Trp435* 94 ||Ciliary dyskinesia, primary, 9 ||612444 ||DNAI2 ||c.1494+1G>A ||Intron 95 ||Ciliary dyskinesia, primary, 9 ||612444 ||DNAL1 ||c.449A>G ||p.Asn150Ser 231 ||Epilepsy, progressive myoclonic 1B ||612437 ||PRICKLE1 ||c.311G>A ||p.Arg104Gln 286 ||Spondyloepiphyseal dysplasia tarda with progressive arthropathy ||208230 ||WISP3 ||c.536_537delGT ||p.Cys179* 221 ||Prolidase deficiency ||170100 ||PEPD ||c.1103T>G ||p.Leu368Arg 1282 ||Prolidase deficiency ||170100 ||PEPD ||c.605C>T ||p.Ser202Phe 222 ||Prolidase deficiency ||170100 ||PEPD ||c.634G>C ||p.Ala212Pro 890 ||Butyrylcholinesterase Deficiency ||177400 ||BCHE ||c.293A>G ||p.Asp98Gly 1033 ||Pycnodysostosis ||265800 ||CTSK ||c.990A>G ||p.*330Trp 229 ||Pyridoxamine 5'-phosphate oxidase deficiency ||610090 ||PNPO ||c.284G>A ||p.Arg95His 264 ||Renal glucosuria ||233100 ||SLC5A2 ||c.962A>G ||p.Lys321Arg 220 ||Renal hypoplasia, isolated ||191830 ||PAX2 ||c.76insG ||p.Val26Glyfs*28 1070 ||Retinitis pigmentosa 25 ||602772 ||EYS ||c.1211insA ||fs 1054 ||Retinitis pigmentosa 59 ||613861 ||DHDDS ||c.124A>G ||p.Lys42Glu 1081 ||Retinitis pigmentosa 28 ||606068 ||FAM161A ||c.1309A>T ||p.Arg437* 1082 ||Retinitis pigmentosa 28 ||606068 ||FAM161A ||c.1355_1356delCA ||p.Thr452Serfs*3 1334 ||Retinitis pigmentosa 14 ||600132 ||TULP1 ||c.1495+2insT ||Intron 1083 ||Retinitis pigmentosa 28 ||606068 ||FAM161A ||c.1567C>T ||p.Arg523* 1084 ||Retinitis pigmentosa 28 ||606068 ||FAM161A ||c.1618C>T ||p.Arg540* 1084 ||Retinitis pigmentosa 28 ||606068 ||FAM161A ||c.1618C>T ||p.Arg596* 1281 ||Retinitis pigmentosa 57 ||613582 ||PDE6G ||c.187+1G>T ||Intron 902 ||Retinitis pigmentosa 26 ||608380 ||CERKL ||c.238+1G>A ||Intron 293 ||Retinitis pigmentosa 64 ||614500 ||C8ORF37 ||c.545A>G ||p.Gln182Arg 1286 ||Retinitis pigmentosa 36 ||610599 ||PRCD ||c.64C>T ||p.Arg22* 100 ||Retinitis pigmentosa 25 ||602772 ||EYS ||c.8155_8156delCA ||p.His2719Tyrfs*27 282 ||Rickets, vitamin D-resistant, type IIA ||277440 ||VDR ||c.885C>A ||p.Tyr295* 261 ||Hypophosphatemic rickets with hypercalciuria ||241530 ||SLC34A3 ||c.228delC ||p.Cys77Alafs*75 251 ||Minicore myopathy with external ophthalmoplegia ||255320 ||RYR1 ||c.3263A>G ||p.Tyr1088Cys 294 ||Sandhoff disease ||268800 ||HEXB ||c.1082+5G>A ||Intron 1298 ||Mucopolysaccharidosis type IIIA (Sanfilippo A) ||252900 ||SGSH ||c.1093C>T ||p.Gln365* 1299 ||Mucopolysaccharidosis type IIIA (Sanfilippo A) ||252900 ||SGSH ||c.1298G>A ||p.Arg433Gln 1300 ||Mucopolysaccharidosis type IIIA (Sanfilippo A) ||252900 ||SGSH ||c.544C>T ||p.Arg182Cys 1301 ||Mucopolysaccharidosis type IIIA (Sanfilippo A) ||252900 ||SGSH ||c.812C>T ||p.Thr271Met 843 ||Acyl-CoA dehydrogenase, short-chain, deficiency of ||201470 ||ACADS ||c.319C>T ||p.Arg107Cys 844 ||Acyl-CoA dehydrogenase, short-chain, deficiency of ||201470 ||ACADS ||c.511C>T ||p.Arg171Trp 845 ||Acyl-CoA dehydrogenase, short-chain, deficiency of ||201470 ||ACADS ||c.625G>A ||p.Gly209Ser 242 ||Severe combined immunodeficiency, B cell-negative ||601457 ||RAG1 ||c.1361T>A ||p.Leu454Gln 244 ||Severe combined immunodeficiency, B cell-negative ||601457 ||RAG2 ||c.193G>T ||p.Asp65Tyr 245 ||Severe combined immunodeficiency, B cell-negative ||601457 ||RAG2 ||c.685C>T ||p.Arg229Trp 8 ||Severe combined immunodeficiency due to ADA deficiency ||102700 ||ADA ||c.703C>T ||p.Arg235Trp 9 ||Severe combined immunodeficiency due to ADA deficiency ||102700 ||ADA ||c.792G>A ||p.Trp264* 243 ||Severe combined immunodeficiency, B cell-negative ||601457 ||RAG2 ||c.104G>T ||p.Gly35Val 85 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.1054C>T ||p.Arg352Trp 86 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.1210C>T ||p.Arg404Cys 87 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.278C>T ||p.Thr93Met 88 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.452G>A ||p.Trp151* 89 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.452G>C ||p.Trp151Ser 90 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.453G>A ||p.Trp151* 91 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.964-1G>C ||Intron 92 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.976G>T ||p.Val326Leu 1203 ||Neuronopathy, distal hereditary motor, type VI ||604320 ||IGHMBP2 ||c.114delA ||fs 295 ||Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis ||614813 ||POC1A ||c.512T>C ||p.Leu171Pro 284 ||Pontocerebellar hypoplasia type 1A ||607596 ||VRK1 ||c.1072C>T ||p.Arg358* 82 ||Spondylometaepiphyseal dysplasia, short limb-hand type ||271665 ||DDR2 ||c.2254C>T ||p.Arg752Cys 1223 ||Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome ||601559 ||LIFR ||c.1601-1G>A ||Intron 165 ||Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome ||601559 ||LIFR ||c.2472_2476delTATGT ||p.Ser824Argfs*41 1 ||Surfactant metabolism dysfunction, pulmonary, 3 ||610921 ||ABCA3 ||c.316C>T ||p.Arg106* 1177 ||Tay-Sachs disease ||272800 ||HEXA ||c.1073+1G>A ||Intron 1178 ||Tay-Sachs disease ||272800 ||HEXA ||c.1274_1277insTATC ||fs 1179 ||Tay-Sachs disease ||272800 ||HEXA ||c.1306A>G ||p.Ile436Val 1180 ||Tay-Sachs disease ||272800 ||HEXA ||c.1351C>G ||p.Leu451Val 1181 ||Tay-Sachs disease ||272800 ||HEXA ||c.1421+1G>C ||Intron 1182 ||Tay-Sachs disease ||272800 ||HEXA ||c.1444G>A ||p.Glu482Lys 142 ||Tay-Sachs disease ||272800 ||HEXA ||c.496delC ||p.Arg166Alafs*33 1183 ||Tay-Sachs disease ||272800 ||HEXA ||c.509G>A ||p.Arg170Gln 1184 ||Tay-Sachs disease ||272800 ||HEXA ||c.532C>T ||p.Arg178Cys 1185 ||Tay-Sachs disease ||272800 ||HEXA ||c.533G>A ||p.Arg178His 1186 ||Tay-Sachs disease ||272800 ||HEXA ||c.533G>T ||p.Arg178Leu 1187 ||Tay-Sachs disease ||272800 ||HEXA ||c.540C>G ||p.Tyr180* 1188 ||Tay-Sachs disease ||272800 ||HEXA ||c.571-2A>G ||Intron 1189 ||Tay-Sachs disease ||272800 ||HEXA ||c.749G>T ||p.Gly250Val 1190 ||Tay-Sachs disease ||272800 ||HEXA ||c.805+1G>A ||Intron 1191 ||Tay-Sachs disease ||272800 ||HEXA ||c.805G>A ||p.Gly269Ser 143 ||Tay-Sachs disease ||272800 ||HEXA ||c.835T>C ||p.Ser279Pro 1192 ||Tay-Sachs disease ||272800 ||HEXA ||c.910_912delTTC ||p.Phe304del 116 ||Thanatophoric dysplasia, type I ||187600 ||FGFR3 ||c.742C>T ||p.Arg248Cys 117 ||Thanatophoric dysplasia, type II ||187601 ||FGFR3 ||c.1948A>G ||p.Lys650Glu 118 ||Thanatophoric dysplasia, type II ||187601 ||FGFR3 ||c.1949A>T ||p.Lys650Met 259 ||Thiamine-responsive megaloblastic anemia syndrome ||249270 ||SLC19A2 ||c.725delC ||p.Pro242Glnfs*18 1208 ||Glanzmann thrombasthenia ||273800 ||ITGB3 ||c.2031_2041delTGCAGTGAATT ||fs 1207 ||Glanzmann thrombasthenia ||273800 ||ITGA2B ||c.409-2_419delAGGCCTGCGCCCC ||fs 1209 ||Glanzmann thrombasthenia ||273800 ||ITGB3 ||c.428T>G ||p.Leu143Trp 1210 ||Glanzmann thrombasthenia ||273800 ||ITGB3 ||Large deletion ||Large deletion 1074 ||Thrombophilia due to thrombin defect ||188050 ||F2 ||3' UTR ||3' UTR 101 ||Thrombophilia due to thrombin defect ||188050 ||F2 ||c.*96C>T ||3' UTR 1075 ||Thrombophilia due to activated protein C resistance ||188055 ||F5 ||c.1601G>A ||p.Arg534Gln 1234 ||Thromboembolism, susceptibility to ||188050 ||MTHFR ||c.665C>T ||p.Ala222Val 1078 ||Tyrosinemia, type I ||276700 ||FAH ||c.1062+5G>A ||Intron 103 ||Tyrosinemia, type I ||276700 ||FAH ||c.554-1G>T ||Intron 1079 ||Tyrosinemia, type I ||276700 ||FAH ||c.782C>T ||p.Pro261Leu 1080 ||Tyrosinemia, type I ||276700 ||FAH ||c.786G>A ||p.Trp262* 302 ||Tyrosinemia, type III ||276710 ||HPD ||c.415-1G>A ||Intron 102 ||Tyrosinemia, type I ||276700 ||FAH ||c.192G>T ||p.Gln64His 104 ||Tyrosinemia, type I ||276700 ||FAH ||c.707-1G>C ||Intron 281 ||Usher syndrome, type 1C ||276904 ||USH1C ||c.1220delG ||p.Gly407Glufs*58 1241 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.1190C>A ||p.Ala397Asp 1242 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.1996C>T ||p.Arg666* 1243 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.2187+1G>A ||Intron 1244 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.2476G>A ||p.Ala826Thr 1245 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.470+1G>A ||Intron 1246 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.5581C>T ||p.Arg1861* 1247 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.6196delC ||fs 1248 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.640G>A ||p.Gly214Arg 1279 ||Usher syndrome, type 1F ||602083 ||PCDH15 ||c.5601_5603delAAC ||p.Thr1867_Thr1868delinsThr 1280 ||Usher syndrome, type 1F ||602083 ||PCDH15 ||c.733C>T ||p.Arg245* 1339 ||Usher syndrome, type 2A ||276901 ||USH2A ||c.1000C>T ||p.Arg334Trp 1340 ||Usher syndrome, type 2A ||276901 ||USH2A ||c.12067-2A>G ||Intron 1341 ||Usher syndrome, type 2A ||276901 ||USH2A ||c.2209C>T ||p.Arg737* 1342 ||Usher syndrome, type 2A ||276901 ||USH2A ||c.236_239insGTAC ||fs 1343 ||Usher syndrome, type 2A ||276901 ||USH2A ||c.4544C>T ||p.Thr1515Met 1344 ||Usher syndrome, type 2A ||276901 ||USH2A ||c.5519G>T ||p.Gly1840Val 1021 ||Usher syndrome, type 3A ||606397 ||CLRN1 ||c.144T>G ||p.Asn48Lys 1022 ||Usher syndrome, type 3A ||606397 ||CLRN1 ||c.528T>G ||p.Tyr176* 899 ||Ventricular tachycardia, catecholaminergic polymorphic, 2 ||114251 ||CASQ2 ||c.919G>C ||p.Asp307His 846 ||Acyl-CoA dehydrogenase, Very long-chain, deficiency of ||201475 ||ACADVL ||c.799_802delGTTA ||fs 121 ||Muscular dystrophy-dystroglycanopathy, type A, 4 ||253800 ||FKTN ||c.1167insA ||p.Phe390Ilefs*14 880 ||Wilson disease ||277900 ||ATP7B ||c.1340_1343delAAAC ||fs 881 ||Wilson disease ||277900 ||ATP7B ||c.1639delC ||fs 28 ||Wilson disease ||277900 ||ATP7B ||c.2293G>A ||p.Asp765Asn 883 ||Wilson disease ||277900 ||ATP7B ||c.2333G>T ||p.Arg778Leu 884 ||Wilson disease ||277900 ||ATP7B ||c.2337G>A ||p.Trp779* 885 ||Wilson disease ||277900 ||ATP7B ||c.2906G>A ||p.Arg969Gln 886 ||Wilson disease ||277900 ||ATP7B ||c.3207C>A ||p.His1069Gln 29 ||Wilson disease ||277900 ||ATP7B ||c.3402delC ||p.Ala1135Glnfs*13 887 ||Wilson disease ||277900 ||ATP7B ||c.3649_3654delGTTCTG ||fs 888 ||Wilson disease ||277900 ||ATP7B ||c.845delT ||fs 285 ||Wiskott-Aldrich syndrome ||301000 ||WAS ||c.119G>T ||p.Gly40Val 166 ||Wolman disease ||278000 ||LIPA ||c.260G>T ||p.Gly87Val 1224 ||Wolman disease ||278000 ||LIPA ||c.398delC ||fs 81 ||Woodhouse-Sakati syndrome ||241080 ||DCAF17 ||c.436delC ||p.Ala147Hisfs*9 230 ||Xeroderma pigmentosum, variant type ||278750 ||POLH ||c.522G>T ||p.Trp174Cys 287 ||Xeroderma pigmentosum, group C ||278720 ||XPC ||c.566_567delAT ||p.Tyr189Serfs*10 1283 ||Peroxisome biogenesis disorder 1A (Zellweger) ||214100 ||PEX1 ||c.2097insT ||fs 1284 ||Peroxisome biogenesis disorder 1A (Zellweger) ||214100 ||PEX1 ||c.2528G>A ||p.Gly843Asp 1285 ||Peroxisome biogenesis disorder 5A (Zellweger) ||614866 ||PEX2 ||c.550delC ||p.R184fs*7

כלים אישיים
אודות העורך
פרופ' מוטי שוחט
- מנהל מכון גנטי במרכז רפואי רבין ושניידר
- פרופסור לרפואת ילדים וגנטיקה רפואית באונ' ת"א
- מומחה ברפואת ילדים במרכז רפואי שניידר
- התמחה בגנטיקה רפואית בסידרס-סיני בלוס אנג'לס
- סיים בהצטיינות לימודי רפואה בביה"ס לרפואה באוניברסיטת ת"א

ניתן לקבל מידע נוסף אודות ייעוץ גנטי ובדיקות גנטיות
מרפאת פרופ׳ מוטי שוחט - בדיקות גנטיות
- אנו מציעים מגוון בדיקות גנטיות לכל שלבי החיים
- בדיקות סקר מורחב לפני ובתחילת הריון
- בדיקות גנים הקושרים בסיכון לסרטן
- בדיקות גנים הקשורים במחלות של גיל הילדות (אפילפסיה, מחלות שלד)
- ליווי צמוד של פרופ' שוחט במתן התוצאות וייעוץ ללא עלות במקרה של ממצא

כניסה לאתר הבדיקות הגנטיות