| 1035 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | 202010 | CYP11B1 | c.1342C>T | p.Arg448Cys | nothing
|
Mutations ID ||Phenotype Name ||Omim Number ||Gene ||c.Name ||p.Name
1035 ||Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency ||202010 ||CYP11B1 ||c.1342C>T ||p.Arg448Cys
1036 ||Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency ||202010 ||CYP11B1 ||c.1343G>A ||p.Arg448His
1037 ||Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency ||202010 ||CYP11B1 ||c.1390_1392insCTG ||fs
1040 ||Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency ||201910 ||CYP21A2 ||c.1360C>T ||p.Pro454Ser
74 ||Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency ||201910 ||CYP21A2 ||c.293-13A/C>G ||Intron
1041 ||Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency ||201910 ||CYP21A2 ||c.332_339delGAGACTAC ||fs
79 ||Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency ||201910 ||CYP21A2 ||c.719T>A ||p.Met240Lys
223 ||Phosphoglycerate dehydrogenase deficiency ||601815 ||PHGDH ||c.1468G>A ||p.Val490Met
1235 ||Abetalipoproteinemia ||200100 ||MTTP ||c.2593G>T ||p.Gly865*
1236 ||Abetalipoproteinemia ||200100 ||MTTP ||c.307A>T ||p.Lys103*
1237 ||Abetalipoproteinemia ||200100 ||MTTP ||c.62-2A>G ||Intron
110 ||Achondroplasia ||100800 ||FGFR3 ||c.1138G>A ||p.Gly380Arg
111 ||Achondroplasia ||100800 ||FGFR3 ||c.1138G>C ||p.Gly380Arg
68 ||Achromatopsia-2 ||216900 ||CNGA3 ||c.1585G>A ||p.Val529Met
263 ||Acrodermatitis enteropathica ||201100 ||SLC39A4 ||c.1223delC ||p.Leu410Serfs*73
1331 ||Liver failure, transient infantile ||613070 ||TRMU ||c.229T>C ||p.Tyr77His
842 ||Adrenoleukodystrophy ||300100 ||ABCD1 ||c.686T>C ||p.Leu229Pro
136 ||Adult i phenotype with congenital cataract ||110800 ||GCNT2 ||c.977G>A ||p.Trp328*
1335 ||Albinism, oculocutaneous, type I ||203100 ||TYR ||c.1118C>A ||p.Thr373Lys
1337 ||Albinism, oculocutaneous, type I ||203100 ||TYR ||c.140G>A ||p.Gly47Asp
1338 ||Albinism, oculocutaneous, type I ||203100 ||TYR ||c.149C>G ||p.Ser50*
255 ||Emphysema-cirrhosis, due to AAT deficiency ||613490 ||SERPINA1 ||c.1096G>A ||p.Glu366Lys
256 ||Emphysema-cirrhosis, due to AAT deficiency ||613490 ||SERPINA1 ||c.863A>T ||p.Glu288Val
1023 ||Alport syndrome ||301050 ||COL4A5 ||c.4691G>C ||p.Cys1564Ser
1024 ||Alport syndrome ||301050 ||COL4A5 ||c.4946T>G ||p.Leu1649Arg
185 ||Thrombocytopenia, congenital amegakaryocytic ||604498 ||MPL ||c.79+2T>A ||Intron
109 ||Apert syndrome ||101200 ||FGFR2 ||c.758C>G ||p.Pro253Arg
108 ||Apert syndrome ||101200 ||FGFR2 ||c.755C>G ||p.Ser252Trp
20 ||Alzheimer disease-2 ||104310 ||APOE ||c.388T>C ||p.Cys130Arg
21 ||Alzheimer disease-2 ||104310 ||APOE ||c.478C>T ||p.Arg160Cys
864 ||Argininosuccinic aciduria ||207900 ||ASL ||c.346C>T ||p.Gln116*
225 ||Lethal congenital contractural syndrome 3 ||611369 ||PIP5K1C ||c.757G>A ||p.Asp253Asn
11 ||Aspartylglucosaminuria ||208400 ||AGA ||c.214T>C ||p.Ser72Pro
872 ||Ataxia-telangiectasia ||208900 ||ATM ||c.103C>T ||p.Arg35*
873 ||Ataxia-telangiectasia ||208900 ||ATM ||c.1339C>T ||p.Arg447*
874 ||Ataxia-telangiectasia ||208900 ||ATM ||c.2839-579_2839-576del4 ||Intron
875 ||Ataxia-telangiectasia ||208900 ||ATM ||c.3245_3247delATCinsTGAT ||p.His1081Leufs*13
876 ||Ataxia-telangiectasia ||208900 ||ATM ||c.3576G>A ||p.Lys1192Lys
27 ||Ataxia-telangiectasia ||208900 ||ATM ||c.368delA ||p.Tyr123Leufs*6
877 ||Ataxia-telangiectasia ||208900 ||ATM ||c.5763-1050A>G ||Intron
878 ||Ataxia-telangiectasia ||208900 ||ATM ||c.6672_6680delGGCTCTACGinsCTC ||p.Met2224Ilefs*44
879 ||Ataxia-telangiectasia ||208900 ||ATM ||c.7241_7244delAAGC ||p.Gln2414Leufs*2
147 ||Atrichia with papular lesions ||209500 ||HR ||c.2147delC ||p.Pro716Glnfs*186
148 ||Atrichia with papular lesions ||209500 ||HR ||c.431delC ||p.Pro144Lysfs*24
23 ||Bardet-Biedl syndrome 3 ||209900 ||ARL6 ||c.364C>T ||p.Arg122*
889 ||Bardet-Biedl syndrome 1 ||209900 ||BBS1 ||c.1169T>G ||p.Met390Arg
897 ||Bardet-Biedl syndrome 10 ||209900 ||C12ORF58 ||c.271insT ||fs
30 ||Bardet-Biedl syndrome 2 ||209900 ||BBS2 ||c.224T>G ||p.Val75Gly
31 ||Bardet-Biedl syndrome 4 ||209900 ||BBS4 ||c.884G>C ||p.Arg295Pro
67 ||Bartter syndrome, type 3 ||607364 ||CLCNKB ||c.1313G>A ||p.Arg438His
52 ||Bartter syndrome, type 4a ||602522 ||BSND ||c.28G>A ||p.Gly10Ser
53 ||Biotinidase deficiency ||253260 ||BTD ||c.100G>A ||p.Gly34Ser
54 ||Biotinidase deficiency ||253260 ||BTD ||c.1612C>T ||p.Arg538Cys
156 ||Blood group, Kell ||110900 ||KEL ||c.578C>G ||p.Thr193Arg
157 ||Blood group, Kell ||110900 ||KEL ||c.578C>T ||p.Thr193Met
248 ||Blood group, Rhesus ||111690 ||RHCE ||c.676G>C ||p.Pro226Ala
1291 ||Bloom syndrome ||210900 ||RECQL3 ||c.2207_2212delATCTGA ||p.Tyr736_Thr738delinsSer
1292 ||Bloom syndrome ||210900 ||RECQL3 ||c.2407insT ||fs
124 ||Growth retardation, developmental delay, coarse facies, and early death ||612938 ||FTO ||c.947G>A ||p.Arg316Gln
99 ||Branchiootorenal syndrome 1 ||113650 ||EYA1 ||c.1475G>C ||p.Arg492Pro
37 ||Breast-ovarian cancer, familial, 1 ||604370 ||BRCA1 ||c.181T>C ||p.Cys61Arg
38 ||Breast-ovarian cancer, familial, 1 ||604370 ||BRCA1 ||c.181T>G ||p.Cys61Gly
39 ||Breast-ovarian cancer, familial, 1 ||604370 ||BRCA1 ||c.2934T>G ||p.Tyr978*
40 ||Breast-ovarian cancer, familial, 1 ||604370 ||BRCA1 ||c.4034delA ||p.Glu1346Lysfs*20
41 ||Breast-ovarian cancer, familial, 1 ||604370 ||BRCA1 ||c.5123C>A ||p.Ala1708Glu
42 ||Breast-ovarian cancer, familial, 1 ||604370 ||BRCA1 ||c.5123C>T ||p.Ala1708Val
43 ||Breast-ovarian cancer, familial, 1 ||604370 ||BRCA1 ||c.5266insC ||p.Gln1756Profs*74
46 ||Breast-ovarian cancer, familial, 2 ||612555 ||BRCA2 ||c.5946delT ||p.Ser1982Argfs*22
47 ||Breast-ovarian cancer, familial, 2 ||612555 ||BRCA2 ||c.6275_6276delTT ||p.Leu2092Profs*7
48 ||Breast-ovarian cancer, familial, 2 ||612555 ||BRCA2 ||c.67+1G>A ||Intron
49 ||Breast-ovarian cancer, familial, 2 ||612555 ||BRCA2 ||c.67+1G>T ||Intron
44 ||Breast-ovarian cancer, familial, 1 ||604370 ||BRCA1 ||c.68_69delAG ||p.Glu23Valfs*17
50 ||Breast-ovarian cancer, familial, 2 ||612555 ||BRCA2 ||c.7007G>C ||p.Arg2336Pro
51 ||Breast-ovarian cancer, familial, 2 ||612555 ||BRCA2 ||c.8537_8538delAG ||p.Glu2846Glyfs*22
45 ||Breast-ovarian cancer, familial, 1 ||604370 ||BRCA1 ||c.981_982delAT ||p.Cys328*fs
1347 ||Brittle cornea syndrome ||229200 ||ZNF469 ||c.5943delA ||fs
1348 ||Brittle cornea syndrome ||229200 ||ZNF469 ||c.9531delG ||fs
32 ||Butyrylcholinesterase Deficiency ||177400 ||BCHE ||c.1253G>T ||p.Gly418Val
33 ||Butyrylcholinesterase Deficiency ||177400 ||BCHE ||c.1574A>T ||p.Glu525Val
34 ||Butyrylcholinesterase Deficiency ||177400 ||BCHE ||c.1699G>A ||p.Ala567Thr
35 ||Butyrylcholinesterase Deficiency ||177400 ||BCHE ||c.812C>T ||p.Thr271Met
1294 ||Tumoral calcinosis, familial, normophosphatemic ||610455 ||SAMD9 ||c.1030C>T ||p.Arg344*
1295 ||Tumoral calcinosis, familial, normophosphatemic ||610455 ||SAMD9 ||c.4483A>G ||p.Lys1495Glu
128 ||Tumoral calcinosis, hyperphosphatemic, familial ||211900 ||GALNT3 ||c.1524+5G>A ||Intron
865 ||Canavan disease ||271900 ||ASPA ||c.433-2A>G ||Intron
866 ||Canavan disease ||271900 ||ASPA ||c.693C>A ||p.Tyr231*
25 ||Canavan disease ||271900 ||ASPA ||c.693C>T ||p.Tyr231=
868 ||Canavan disease ||271900 ||ASPA ||c.693T>A ||p.Tyr231*
870 ||Canavan disease ||271900 ||ASPA ||c.854A>C ||p.Glu285Ala
871 ||Canavan disease ||271900 ||ASPA ||c.914C>A ||p.Ala305Glu
1025 ||Carbamoylphosphate synthetase I deficiency ||237300 ||CPS1 ||c.3265C>T ||p.Arg1089Cys
197 ||Cardiomyopathy, Hypertrophic ||590035 ||MT-TG ||m.9997T>C ||mtDNA
253 ||Cardiomyopathy, dilated, 1GG ||613642 ||SDHA ||c.1664G>A ||p.Gly555Glu
69 ||CPT deficiency, hepatic, type IA ||255120 ||CPT1A ||c.1361A>G ||p.Asp454Gly
296 ||Carnitine-acylcarnitine translocase deficiency ||212138 ||SLC25A20 ||c.713A>G ||p.Gln238Arg
125 ||Cataract, autosomal recessive congenital 2 ||610019 ||FYCO1 ||c.1546C>T ||p.Gln516*
267 ||Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome ||609528 ||SNAP29 ||c.223delG ||p.Val75Serfs*28
1034 ||Chronic granulomatous disease ||233690 ||CYBA ||c.171_172insG ||p.Lys58Glufs*58
1249 ||Chronic granulomatous disease due to deficiency of NCF-1 ||233700 ||NCF1 ||c.579G>A ||p.Trp193*
96 ||Chondrodysplasia punctata, X-linked dominant ||302960 ||EBP ||c.440G>A ||p.Arg147His
1345 ||Choreoacanthocytosis ||200150 ||VPS13A ||c.6059delC ||fs
1346 ||Choreoacanthocytosis ||200150 ||VPS13A ||Large deletion ||Large deletion
56 ||CD59 deficiency ||107271 ||CD59 ||c.266G>A ||p.Cys89Tyr
1257 ||Insensitivity to pain, congenital, with anhidrosis ||256800 ||NTRK1 ||c.1842_1843insT ||fs
1259 ||Insensitivity to pain, congenital, with anhidrosis ||256800 ||NTRK1 ||c.2066C>T ||p.Pro689Leu
216 ||Insensitivity to pain, congenital, with anhidrosis ||256800 ||NTRK1 ||c.207_208delTG ||p.Glu70Alafs*16
97 ||Cockayne syndrome, type B ||133540 ||ERCC6 ||c.1034insT ||p.Lys345Asnfs*24
1069 ||Cockayne syndrome, type A ||216400 ||ERCC8 ||c.966C>A ||p.Tyr322*
18 ||Adenomatous polyposis coli ||175100 ||APC ||c.3920T>A ||p.Ile1307Lys
19 ||Adenomatous polyposis coli ||175100 ||APC ||c.3949G>C ||p.Glu1317Gln
227 ||Colorectal cancer, hereditary nonpolyposis, type 4 ||614337 ||PMS2 ||c.1970insA ||p.Asn657Lysfs*7
228 ||Colorectal cancer, hereditary nonpolyposis, type 4 ||614337 ||PMS2 ||c.2192T>G ||p.Lys731*
898 ||C7 deficiency ||610102 ||C7 ||c.1135G>C ||p.Gly379Arg
283 ||Spastic paraplegia 53, autosomal recessive ||614898 ||Vps37A ||c.1146A>T ||p.Lys382Asn
3 ||Stargardt disease 1 ||248200 ||ABCA4 ||c.3608G>A ||p.Gly1203Glu
4 ||Stargardt disease 1 ||248200 ||ABCA4 ||c.4254-15del23 ||Intron
5 ||Stargardt disease 1 ||248200 ||ABCA4 ||c.5460+1G>A ||Intron
6 ||Stargardt disease 1 ||248200 ||ABCA4 ||c.5882G>A ||p.Gly1961Glu
71 ||Adrenal insufficiency, congenital, with 46XY sex reversal ||613743 ||CYP11A1 ||c.644T>C ||p.Phe215Ser
72 ||Adrenal insufficiency, congenital, with 46XY sex reversal ||613743 ||CYP11A1 ||c.694C>T ||p.Arg232*
1038 ||Hypoaldosteronism, congenital, due to CMO II deficiency ||610600 ||CYP11B2 ||c.541C>T ||p.Arg181Trp
119 ||Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 ||607155 ||FKRP ||c.160C>G ||p.Arg54Gly
120 ||Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 ||607155 ||FKRP ||c.160C>T ||p.Arg54Trp
1288 ||Myasthenic syndrome, congenital ||608931 ||RAPSN ||5' UTR ||5' UTR
1289 ||Myasthenic syndrome, congenital ||608931 ||RAPSN ||5' UTR ||5' UTR
1290 ||Myasthenic syndrome, congenital ||608931 ||RAPSN ||c.264C>A ||p.Asn88Lys
1252 ||Nephrotic syndrome, type 1 ||256300 ||NPHS1 ||c.1138C>T ||p.Gln380*
1253 ||Nephrotic syndrome, type 1 ||256300 ||NPHS1 ||c.121_122delCT ||fs
214 ||Nephrotic syndrome, type 1 ||256300 ||NPHS1 ||c.2160insC ||p.Cys721Leufs*5
1254 ||Nephrotic syndrome, type 1 ||256300 ||NPHS1 ||c.3325C>T ||p.Arg1109*
126 ||Neutropenia, severe congenital 4, autosomal recessive ||612541 ||G6PC3 ||c.785G>A ||p.Gly262Asp
1260 ||3-methylglutaconic aciduria, type III ||258501 ||OPA3 ||c.143-1G>C ||Intron
1261 ||3-methylglutaconic aciduria, type III ||258501 ||OPA3 ||c.320_337del18 ||p.Gln107_Glu113delinsGln
149 ||Costello syndrome ||218040 ||HRAS ||c.34G>A ||p.Gly12Ser
150 ||Costello syndrome ||218040 ||HRAS ||c.34G>T ||p.Gly12Cys
151 ||Costello syndrome ||218040 ||HRAS ||c.35G>A ||p.Gly12Asp
152 ||Costello syndrome ||218040 ||HRAS ||c.35G>C ||p.Gly12Ala
153 ||Costello syndrome ||218040 ||HRAS ||c.35G>T ||p.Gly12Val
70 ||CPT deficiency, hepatic, type II ||600649 ||CPT2 ||c.1148T>A ||p.Phe383Tyr
1026 ||CPT deficiency, hepatic, type II ||600649 ||CPT2 ||c.1238_1239delAG ||p.Gln413=fs*8
1027 ||CPT deficiency, hepatic, type II ||600649 ||CPT2 ||c.149C>A ||p.Pro50His
1028 ||CPT deficiency, hepatic, type II ||600649 ||CPT2 ||c.338C>T ||p.Ser113Leu
234 ||Creutzfeldt-Jakob disease ||123400 ||PRNP ||c.598G>A ||p.Glu200Lys
232 ||Creutzfeldt-Jakob disease ||123400 ||PRNP ||c.385A>G ||p.Met129Val
233 ||Creutzfeldt-Jakob disease ||123400 ||PRNP ||c.532G>A ||p.Asp178Asn
112 ||Crouzon syndrome with acanthosis nigricans ||612247 ||FGFR3 ||c.1172C>A ||p.Ala391Glu
1048 ||Cerebrotendinous xanthomatosis ||213700 ||CYP27A1 ||c.1016C>T ||p.Thr306Met
80 ||Cerebrotendinous xanthomatosis ||213700 ||CYP27A1 ||c.355delC ||p.Arg119Glyfs*24
1049 ||Cerebrotendinous xanthomatosis ||213700 ||CYP27A1 ||c.819delT ||fs
1050 ||Cerebrotendinous xanthomatosis ||213700 ||CYP27A1 ||c.845-1G>A ||Intron
903 ||Cystic fibrosis ||219700 ||CFTR ||c.1000C>T ||p.Arg334Trp
904 ||Cystic fibrosis ||219700 ||CFTR ||c.1013C>T ||p.Thr338Ile
905 ||Cystic fibrosis ||219700 ||CFTR ||c.1040G>A ||p.Arg347His
906 ||Cystic fibrosis ||219700 ||CFTR ||c.1040G>C ||p.Arg347Pro
907 ||Cystic fibrosis ||219700 ||CFTR ||c.1040G>T ||p.Arg347Leu
908 ||Cystic fibrosis ||219700 ||CFTR ||c.1055G>A ||p.Arg352Gln
909 ||Cystic fibrosis ||219700 ||CFTR ||c.1079C>A ||p.Thr360Ile
910 ||Cystic fibrosis ||219700 ||CFTR ||c.1090T>C ||p.Ser364Pro
59 ||Cystic fibrosis ||219700 ||CFTR ||c.1155insTA ||p.Asn386Ilefs*3
911 ||Cystic fibrosis ||219700 ||CFTR ||c.11C>A ||p.Ser4*
912 ||Cystic fibrosis ||219700 ||CFTR ||c.1364C>A ||p.Ala455Glu
913 ||Cystic fibrosis ||219700 ||CFTR ||c.1418delG ||p.Gly473Glufs*54
914 ||Cystic fibrosis ||219700 ||CFTR ||c.1438G>T ||p.Gly480Cys
915 ||Cystic fibrosis ||219700 ||CFTR ||c.1477C>T ||p.Gln493*
916 ||Cystic fibrosis ||219700 ||CFTR ||c.1516A>G ||p.Ile506Val
60 ||Cystic fibrosis ||219700 ||CFTR ||c.1519_1521delATC ||p.Ile507del
917 ||Cystic fibrosis ||219700 ||CFTR ||c.1521_1523delCTT ||p.Phe508del
918 ||Cystic fibrosis ||219700 ||CFTR ||c.1523T>G ||p.Phe508Cys
919 ||Cystic fibrosis ||219700 ||CFTR ||c.1545_1546delTA ||p.Tyr515*
920 ||Cystic fibrosis ||219700 ||CFTR ||c.1558G>T ||p.Val520Phe
921 ||Cystic fibrosis ||219700 ||CFTR ||c.1572C>A ||p.Cys524*
922 ||Cystic fibrosis ||219700 ||CFTR ||c.1585-1G>A ||Intron
923 ||Cystic fibrosis ||219700 ||CFTR ||c.1624G>T ||p.Gly542*
924 ||Cystic fibrosis ||219700 ||CFTR ||c.1645A>C ||p.Ser549Arg
925 ||Cystic fibrosis ||219700 ||CFTR ||c.1646G>A ||p.Ser549Asn
61 ||Cystic fibrosis ||219700 ||CFTR ||c.1646G>T ||p.Ser549Ile
926 ||Cystic fibrosis ||219700 ||CFTR ||c.1647T>G ||p.Ser549Arg
927 ||Cystic fibrosis ||219700 ||CFTR ||c.1652G>A ||p.Gly551Asp
928 ||Cystic fibrosis ||219700 ||CFTR ||c.1654C>T ||p.Gln552*
929 ||Cystic fibrosis ||219700 ||CFTR ||c.1657C>T ||p.Arg553*
930 ||Cystic fibrosis ||219700 ||CFTR ||c.1675G>A ||p.Ala559Thr
931 ||Cystic fibrosis ||219700 ||CFTR ||c.1679+1634A>G ||Intron
932 ||Cystic fibrosis ||219700 ||CFTR ||c.1679G>C ||p.Arg560Thr
933 ||Cystic fibrosis ||219700 ||CFTR ||c.1680-1G>A ||Intron
934 ||Cystic fibrosis ||219700 ||CFTR ||c.1721C>A ||p.Pro574His
935 ||Cystic fibrosis ||219700 ||CFTR ||c.1766+1G>A ||Intron
936 ||Cystic fibrosis ||219700 ||CFTR ||c.1766+5G>T ||Intron
937 ||Cystic fibrosis ||219700 ||CFTR ||c.178G>T ||p.Glu60*
938 ||Cystic fibrosis ||219700 ||CFTR ||c.1817_1900del84 ||p.Met607_Gln634del
939 ||Cystic fibrosis ||219700 ||CFTR ||c.1911delG ||p.Gln637Hisfs*26
940 ||Cystic fibrosis ||219700 ||CFTR ||c.1923_1931del9insA ||p.Ser641Argfs*5
941 ||Cystic fibrosis ||219700 ||CFTR ||c.1973_1985del13insAGAAA ||p.Arg658Lysfs*4
942 ||Cystic fibrosis ||219700 ||CFTR ||c.1976delA ||p.Asn659Ilefs*4
943 ||Cystic fibrosis ||219700 ||CFTR ||c.200C>T ||p.Pro67Leu
944 ||Cystic fibrosis ||219700 ||CFTR ||c.2051_2052delAAinsG ||p.Lys684Serfs*38
945 ||Cystic fibrosis ||219700 ||CFTR ||c.2052_2053insA ||p.Gln685Thrfs*4
946 ||Cystic fibrosis ||219700 ||CFTR ||c.2052delA ||p.Lys684Asnfs*38
947 ||Cystic fibrosis ||219700 ||CFTR ||c.2125C>T ||p.Arg709*
948 ||Cystic fibrosis ||219700 ||CFTR ||c.2128A>T ||p.Lys710*
949 ||Cystic fibrosis ||219700 ||CFTR ||c.2175_2176insA ||p.Glu726Argfs*4
950 ||Cystic fibrosis ||219700 ||CFTR ||c.223C>T ||p.Arg75*
951 ||Cystic fibrosis ||219700 ||CFTR ||c.2290C>T ||p.Arg764*
952 ||Cystic fibrosis ||219700 ||CFTR ||c.233_234insT ||p.Trp79Leufs*32
953 ||Cystic fibrosis ||219700 ||CFTR ||c.2424_2425insAT ||p.Ser809Ilefs*13
954 ||Cystic fibrosis ||219700 ||CFTR ||c.254G>A ||p.Gly85Glu
955 ||Cystic fibrosis ||219700 ||CFTR ||c.2619+1Tins ||Intron
956 ||Cystic fibrosis ||219700 ||CFTR ||c.262_263delTT ||p.Leu88Ilefs*22
63 ||Cystic fibrosis ||219700 ||CFTR ||c.2657+5G>A ||Intron
958 ||Cystic fibrosis ||219700 ||CFTR ||c.2668C>T ||p.Gln890*
959 ||Cystic fibrosis ||219700 ||CFTR ||c.273+1G>A ||Intron
960 ||Cystic fibrosis ||219700 ||CFTR ||c.273+3A>C ||Intron
961 ||Cystic fibrosis ||219700 ||CFTR ||c.2737_2738insG ||p.Tyr913*
962 ||Cystic fibrosis ||219700 ||CFTR ||c.274-1G>A ||Intron
963 ||Cystic fibrosis ||219700 ||CFTR ||c.274G>A ||p.Glu92Lys
964 ||Cystic fibrosis ||219700 ||CFTR ||c.274G>T ||p.Glu92*
965 ||Cystic fibrosis ||219700 ||CFTR ||c.2988+1G>A ||Intron
64 ||Cystic fibrosis ||219700 ||CFTR ||c.2989-1G>A ||Intron
966 ||Cystic fibrosis ||219700 ||CFTR ||c.3039delC ||p.Pro1013=fs*10
967 ||Cystic fibrosis ||219700 ||CFTR ||c.3067_3072delATAGTG ||p.Ile1023_Val1024del
968 ||Cystic fibrosis ||219700 ||CFTR ||c.313delA ||p.Ile105Serfs*2
969 ||Cystic fibrosis ||219700 ||CFTR ||c.3196C>T ||p.Arg1066Cys
970 ||Cystic fibrosis ||219700 ||CFTR ||c.3230T>C ||p.Leu1077Pro
971 ||Cystic fibrosis ||219700 ||CFTR ||c.325_327delTATinsG ||p.Tyr109Glyfs*4
972 ||Cystic fibrosis ||219700 ||CFTR ||c.3266G>A ||p.Trp1089*
973 ||Cystic fibrosis ||219700 ||CFTR ||c.3276C>A ||p.Tyr1092*
974 ||Cystic fibrosis ||219700 ||CFTR ||c.3276C>G ||p.Tyr1092*
975 ||Cystic fibrosis ||219700 ||CFTR ||c.3292T>C ||p.Trp1098Arg
976 ||Cystic fibrosis ||219700 ||CFTR ||c.3302T>A ||p.Met1101Lys
977 ||Cystic fibrosis ||219700 ||CFTR ||c.343G>T ||p.Glu115*
978 ||Cystic fibrosis ||219700 ||CFTR ||c.3454G>C ||p.Asp1152His
979 ||Cystic fibrosis ||219700 ||CFTR ||c.3472C>T ||p.Arg1158*
980 ||Cystic fibrosis ||219700 ||CFTR ||c.3484C>T ||p.Arg1162*
981 ||Cystic fibrosis ||219700 ||CFTR ||c.349C>T ||p.Arg117Cys
982 ||Cystic fibrosis ||219700 ||CFTR ||c.350G>A ||p.Arg117His
983 ||Cystic fibrosis ||219700 ||CFTR ||c.3528delC ||p.Thr1176=fs*16
984 ||Cystic fibrosis ||219700 ||CFTR ||c.3529A>T ||p.Lys1177*
985 ||Cystic fibrosis ||219700 ||CFTR ||c.3535_3538delACCA ||p.Thr1179Asnfs*12
986 ||Cystic fibrosis ||219700 ||CFTR ||c.3587C>G ||p.Ser1196*
987 ||Cystic fibrosis ||219700 ||CFTR ||c.3600delA ||p.Asp1201Metfs*10
988 ||Cystic fibrosis ||219700 ||CFTR ||c.3611G>A ||p.Trp1204*
989 ||Cystic fibrosis ||219700 ||CFTR ||c.3612G>A ||p.Trp1204*
990 ||Cystic fibrosis ||219700 ||CFTR ||c.3659delC ||p.Thr1220Lysfs*8
991 ||Cystic fibrosis ||219700 ||CFTR ||c.366T>A ||p.Tyr122*
992 ||Cystic fibrosis ||219700 ||CFTR ||c.3700A>G ||p.Ile1234Val
993 ||Cystic fibrosis ||219700 ||CFTR ||c.3712C>T ||p.Gln1238*
994 ||Cystic fibrosis ||219700 ||CFTR ||c.3717+12191C>T ||Intron
65 ||Cystic fibrosis ||219700 ||CFTR ||c.3731G>A ||p.Gly1244Glu
995 ||Cystic fibrosis ||219700 ||CFTR ||c.3744delA ||p.Ser1248Arg=fs*11
996 ||Cystic fibrosis ||219700 ||CFTR ||c.3752G>A ||p.Ser1251Asn
997 ||Cystic fibrosis ||219700 ||CFTR ||c.3764C>A ||p.Ser1255*
998 ||Cystic fibrosis ||219700 ||CFTR ||c.3773_3774insT ||p.Leu1258Phefs*7
999 ||Cystic fibrosis ||219700 ||CFTR ||c.3846G>A ||p.Trp1282*
1000 ||Cystic fibrosis ||219700 ||CFTR ||c.3882_3885delTATT ||p.Ile1295Phefs*32
1001 ||Cystic fibrosis ||219700 ||CFTR ||c.3909C>G ||p.Asn1303Lys
1002 ||Cystic fibrosis ||219700 ||CFTR ||c.3937C>T ||p.Gln1313*
1003 ||Cystic fibrosis ||219700 ||CFTR ||c.416A>T ||p.His139Leu
1004 ||Cystic fibrosis ||219700 ||CFTR ||c.422C>A ||p.Ala141Asp
1005 ||Cystic fibrosis ||219700 ||CFTR ||c.442delA ||p.Ile148Leufs*5
1006 ||Cystic fibrosis ||219700 ||CFTR ||c.489+1G>T ||Intron
1007 ||Cystic fibrosis ||219700 ||CFTR ||c.531delT ||p.Ile177Metfs*12
1008 ||Cystic fibrosis ||219700 ||CFTR ||c.532G>A ||p.Gly178Arg
1009 ||Cystic fibrosis ||219700 ||CFTR ||c.54-5817_c.273+10124del21081ins14 ||p.Ser18Argfs*16
1010 ||Cystic fibrosis ||219700 ||CFTR ||c.579+1G>T ||Intron
1011 ||Cystic fibrosis ||219700 ||CFTR ||c.579+5G>A ||Intron
1012 ||Cystic fibrosis ||219700 ||CFTR ||c.580-1G>T ||Intron
1013 ||Cystic fibrosis ||219700 ||CFTR ||c.617T>G ||p.Leu206Trp
1014 ||Cystic fibrosis ||219700 ||CFTR ||c.675T>A ||p.Cys225*
1015 ||Cystic fibrosis ||219700 ||CFTR ||c.803delA ||p.Asn268Ilefs*17
1016 ||Cystic fibrosis ||219700 ||CFTR ||c.805_806delAT ||p.Ile269Profs*4
1017 ||Cystic fibrosis ||219700 ||CFTR ||c.933_935delCTT ||p.Phe312del
1018 ||Cystic fibrosis ||219700 ||CFTR ||c.948delT ||p.Phe316Leufs*12
1019 ||Cystic fibrosis ||219700 ||CFTR ||c.988G>T ||p.Gly330*
1030 ||Cystinosis, nephropathic ||219800 ||CTNS ||c.1015G>A ||p.Gly339Arg
1031 ||Cystinosis, nephropathic ||219800 ||CTNS ||c.530A>C ||p.Asn177Thr
1313 ||Cystinuria ||220100 ||SLC7A9 ||c.313G>A ||p.Gly105Arg
1314 ||Cystinuria ||220100 ||SLC7A9 ||c.508G>A ||p.Val170Met
1312 ||Cystinuria ||220100 ||SLC3A1 ||c.808C>T ||p.Arg270*
1149 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.101T>C ||p.Met34Thr
1262 ||Deafness, autosomal recessive 22 ||607039 ||OTOA ||c.1025A>T ||p.Asp356Val
1150 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.109G>A ||p.Val37Ile
1323 ||Deafness, autosomal recessive 7 ||600974 ||TMC1 ||c.1165C>T ||p.Arg389*
1324 ||Deafness, autosomal recessive 7 ||600974 ||TMC1 ||c.1210T>C ||p.Trp404Arg
1151 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.167delT ||p.Leu56Arg*fs
1325 ||Deafness, autosomal recessive 7 ||600974 ||TMC1 ||c.1810C>T ||p.Arg604*
1326 ||Deafness, autosomal recessive 7 ||600974 ||TMC1 ||c.1939T>C ||p.Ser647Pro
1152 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.229T>C ||p.Trp77Arg
1153 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.-23+1G>A ||Intron
1154 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.230G>A ||p.Trp77*
138 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.231G>A ||p.Trp77*
1155 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.235delC ||p.Leu79Cys*fs
1156 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.269T>C ||p.Leu90Pro
1240 ||Deafness, autosomal recessive 30 ||607101 ||MYO3A ||c.3126T>G ||p.Tyr1042*
1157 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.358_360delGAG ||p.Glu120del
1158 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.35delG ||p.Gly12Val*fs
1159 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.370C>T ||p.Gln124*
210 ||Deafness, autosomal recessive 3 ||600316 ||MYO15A ||c.373_374delCG ||p.Arg125Valfs*102
1053 ||Deafness, autosomal recessive 59 ||610220 ||DFNB59 ||c.406C>T ||p.Arg136*
1238 ||Deafness, autosomal recessive 3 ||600316 ||MYO15A ||c.4240G>A ||p.Glu1414Lys
170 ||Deafness, autosomal recessive 77 ||613079 ||LOXHD1 ||c.4714C>T ||p.Arg1572*
1160 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.51_62delCACCAGCATTGGinsA ||fs
1161 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.551G>C ||p.Arg184Pro
1162 ||Deafness, autosomal recessive 1A ||220290 ||GJB2 ||c.71G>A ||p.Trp24*
901 ||Deafness, autosomal recessive 12 ||601386 ||CDH23 ||c.7903G>T ||p.Val2635Phe
1239 ||Deafness, autosomal recessive 3 ||600316 ||MYO15A ||c.8183G>A ||p.Arg2728His
1330 ||Deafness, autosomal recessive 8/10 ||601072 ||TMPRSS3 ||c.989delA ||fs
276 ||Deafness, mitochondrial, modifier of ||580000 ||TRMU ||c.28G>T ||p.Ala10Ser
1225 ||Combined factor V and VIII deficiency ||227300 ||LMAN1 ||c.1149+2T>C ||Intron
167 ||Combined factor V and VIII deficiency ||227300 ||LMAN1 ||c.89insG ||p.Asp31Argfs*72
84 ||Desmosterolosis ||602398 ||DHCR24 ||c.307C>T ||p.Arg103Cys
36 ||Diaphanospondylodysostosis ||608022 ||BMPER ||c.310C>T ||p.Gln104*
1126 ||Neuropathy, distal hereditary motor, type V ||600794 ||GARS ||c.1738G>C ||p.Gly580Arg
836 ||Dubin-Johnson syndrome ||237500 ||ABCC2 ||c.1031+4A>G ||Intron
837 ||Dubin-Johnson syndrome ||237500 ||ABCC2 ||c.3449G>A ||p.Arg1150His
838 ||Dubin-Johnson syndrome ||237500 ||ABCC2 ||c.3517A>T ||p.Ile1173Phe
254 ||Anemia, dyserythropoietic congenital, type II ||224100 ||SEC23B ||c.325G>A ||p.Glu109Lys
10 ||Ehlers-Danlos syndrome, type VIIC ||225410 ||ADAMTS2 ||c.673C>T ||p.Gln225*
168 ||Emery-Dreifuss muscular dystrophy 2, AD ||181350 ||LMNA ||c.1580G>C ||p.Arg527Pro
1255 ||Enhanced S-cone syndrome ||268100 ||NR2E3 ||c.119-2A>C ||Intron
1256 ||Enhanced S-cone syndrome ||268100 ||NR2E3 ||c.932G>A ||p.Arg311Gln
1217 ||Epidermolysis bullosa, junctional, non-Herlitz type ||226650 ||LAMB3 ||c.3247C>T ||p.Gln1083*
1076 ||Factor VII deficiency ||227500 ||F7 ||c.1109G>T ||p.Cys370Phe
300 ||Factor VII deficiency ||227500 ||F7 ||c.291+1G>C ||Intron
1077 ||Factor VII deficiency ||227500 ||F7 ||c.911C>T ||p.Ala304Val
1072 ||Factor XI deficiency ||612416 ||F11 ||c.403G>T ||p.Glu135*
1073 ||Factor XI deficiency ||612416 ||F11 ||c.901T>C ||p.Phe301Leu
200 ||Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas ||132600 ||MUTYH ||c.1014G>C ||p.Gln338His
201 ||Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas ||132600 ||MUTYH ||c.1147delC ||p.Ala385Profs*23
202 ||Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas ||132600 ||MUTYH ||c.1187G>A ||p.Gly396Asp
203 ||Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas ||132600 ||MUTYH ||c.1227insGG ||p.Glu410Glyfs*43
204 ||Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas ||132600 ||MUTYH ||c.1258C>A ||p.Leu420Met
205 ||Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas ||132600 ||MUTYH ||c.1437_1439delGGA ||p.Glu480del
206 ||Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas ||132600 ||MUTYH ||c.1477G>T ||p.Val493Phe
207 ||Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas ||132600 ||MUTYH ||c.1544C>T ||p.Ser515Phe
208 ||Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas ||132600 ||MUTYH ||c.536A>G ||p.Tyr179Cys
209 ||Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas ||132600 ||MUTYH ||c.933+3A>C ||p.Gly264Trpfs*7
1204 ||Dysautonomia, familial ||223900 ||IKBKAP ||c.2087G>C ||p.Arg696Pro
1205 ||Dysautonomia, familial ||223900 ||IKBKAP ||c.2204+6T>C ||Intron
1206 ||Dysautonomia, familial ||223900 ||IKBKAP ||c.2741C>T ||p.Pro914Leu
171 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.1105C>T ||p.Pro369Ser
172 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.1894G>A ||p.Gly632Ser
173 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.2040G>A ||p.Met680Ile
174 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.2040G>C ||p.Met680Ile
175 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.2080A>G ||p.Met694Val
176 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.2080A>T ||p.Met694Leu
177 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.2082G>A ||p.Met694Ile
178 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.2084A>G ||p.Lys695Arg
179 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.2084A>T ||p.Lys695Met
180 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.2177T>C ||p.Val726Ala
181 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.2230G>T ||p.Ala744Ser
182 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.2282G>A ||p.Arg761His
183 ||Familial Mediterranean fever, AR ||249100 ||MEFV ||c.442G>C ||p.Glu148Gln
1086 ||Fanconi anemia, complementation group A ||227650 ||FANCA ||c.2172_2173insG ||fs
1087 ||Fanconi anemia, complementation group A ||227650 ||FANCA ||c.2574C>G ||p.Ser858Arg
1088 ||Fanconi anemia, complementation group A ||227650 ||FANCA ||c.4275delT ||fs
1089 ||Fanconi anemia, complementation group A ||227650 ||FANCA ||c.890_893delCTGG ||fs
260 ||Fanconi-Bickel syndrome ||227810 ||SLC2A2 ||c.901C>T ||p.Arg301*
1090 ||Fanconi anemia, complementation group C ||227645 ||FANCC ||c.1642C>T ||p.Arg548*
1091 ||Fanconi anemia, complementation group C ||227645 ||FANCC ||c.1661T>C ||p.Leu554Pro
1092 ||Fanconi anemia, complementation group C ||227645 ||FANCC ||c.37C>T ||p.Gln13*
1093 ||Fanconi anemia, complementation group C ||227645 ||FANCC ||c.456+4A>T ||Intron
1094 ||Fanconi anemia, complementation group C ||227645 ||FANCC ||c.553C>T ||p.Arg185*
1095 ||Fanconi anemia, complementation group C ||227645 ||FANCC ||c.584A>T ||p.Asp195Val
1096 ||Fanconi anemia, complementation group C ||227645 ||FANCC ||c.67delG ||p.Asp23Ile*fs
1166 ||Polymicrogyria, bilateral frontoparietal ||606854 ||GPR56 ||c.1046G>C ||p.Trp349Ser
1167 ||Polymicrogyria, bilateral frontoparietal ||606854 ||GPR56 ||c.1167+3G>C ||Intron
1168 ||Polymicrogyria, bilateral frontoparietal ||606854 ||GPR56 ||c.1693C>T ||p.Arg565Trp
1169 ||Polymicrogyria, bilateral frontoparietal ||606854 ||GPR56 ||c.739_745delCAGGACC ||fs
246 ||Fundus albipunctatus ||136880 ||RDH5 ||c.160C>T ||p.Arg54*
247 ||Fundus albipunctatus ||136880 ||RDH5 ||c.71_74delTGCC ||p.Leu24Profs*36
1115 ||Galactosemia ||230400 ||GALT ||c.152G>A ||p.Arg51Gln
1116 ||Galactosemia ||230400 ||GALT ||c.253-2A>G ||Intron
1117 ||Galactosemia ||230400 ||GALT ||c.404C>T ||p.Ser135Leu
1118 ||Galactosemia ||230400 ||GALT ||c.413C>T ||p.Thr138Met
129 ||Galactosemia ||230400 ||GALT ||c.563A>G ||p.Gln188Arg
129 ||Galactosemia ||230400 ||GALT ||c.563A>G ||p.Gln188Arg
1120 ||Galactosemia ||230400 ||GALT ||c.584T>C ||p.Leu195Pro
1121 ||Galactosemia ||230400 ||GALT ||c.626A>G ||p.Tyr100Cys
1122 ||Galactosemia ||230400 ||GALT ||c.652C>T ||p.Leu218=
1123 ||Galactosemia ||230400 ||GALT ||c.855G>T ||p.Lys285Asn
1124 ||Galactosemia ||230400 ||GALT ||c.940A>G ||p.Asn314Asp
1125 ||Galactosemia ||230400 ||GALT ||Large deletion ||Large deletion
257 ||Muscular dystrophy, limb-girdle, type 2C ||253700 ||SGCG ||c.525delT ||p.Phe175Leufs*20
1127 ||Gaucher disease, type I ||230800 ||GBA ||c.1226A>G ||p.Asn409Ser
1128 ||Gaucher disease, type I ||230800 ||GBA ||c.1263_1317del55 ||fs
1129 ||Gaucher disease, type I ||230800 ||GBA ||c.1294T>A ||p.Trp432Arg
1130 ||Gaucher disease, type I ||230800 ||GBA ||c.1297G>T ||p.Val433Leu
1131 ||Gaucher disease, type I ||230800 ||GBA ||c.1342G>C ||p.Asp448His
1132 ||Gaucher disease, type I ||230800 ||GBA ||c.1448T>C ||p.Leu483Pro
1133 ||Gaucher disease, type I ||230800 ||GBA ||c.1504C>T ||p.Arg502Cys
1134 ||Gaucher disease, type I ||230800 ||GBA ||c.1505G>A ||p.Arg502His
1135 ||Gaucher disease, type I ||230800 ||GBA ||c.1604G>A ||p.Arg535His
1136 ||Gaucher disease, type I ||230800 ||GBA ||c.259C>T ||p.Arg87Trp
133 ||Gaucher disease, type I ||230800 ||GBA ||c.84insG ||p.Leu29Alafs*18
133 ||Gaucher disease, type I ||230800 ||GBA ||c.84insG ||p.Leu29Alafs*18
135 ||Glutaricaciduria, type I ||231670 ||GCDH ||c.1173delG ||p.Asn392Metfs*9
1139 ||Glutaricaciduria, type I ||231670 ||GCDH ||c.1204C>T ||p.Arg402Trp
1140 ||Glutaricaciduria, type I ||231670 ||GCDH ||c.1247C>T ||p.Thr416Ile
1141 ||Glutaricaciduria, type I ||231670 ||GCDH ||c.1262C>T ||p.Ala421Val
1142 ||Glutaricaciduria, type I ||231670 ||GCDH ||c.301G>A ||p.Gly101Arg
298 ||Glutaric acidemia IIC ||231680 ||ETFDH ||c.1084G>A ||p.Gly362Arg
262 ||Glycogen storage disease Ib ||232220 ||SLC37A4 ||c.1042_1043delCT ||p.Leu348Valfs*53
241 ||McArdle disease ||232600 ||PYGM ||c.632delG ||p.Ser211Thrfs*84
211 ||Gray platelet syndrome ||139090 ||NBEAL2 ||c.2701C>T ||p.Arg901*
1099 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.1039C>T ||p.Gln347*
1100 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.247C>T ||p.Arg83Cys
1101 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.248G>A ||p.Arg83His
1102 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.380_381insTA ||p.Tyr127delinsTyrThr*fs
1103 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.497T>G ||p.Val166Gly
1104 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.508C>T ||p.Arg170*
1105 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.562G>C ||p.Gly188Arg
1106 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.648G>T ||p.Leu216=
1107 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.724C>T ||p.Gln242*
1108 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.79delC ||p.Gln27Arg*fs
1109 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.809G>T ||p.Gly270Val
1110 ||Glycogen storage disease Ia ||232200 ||G6PC ||c.979_981delTTC ||p.Phe327del
134 ||Glycogen storage disease IV ||232500 ||GBE1 ||c.986A>C ||p.Tyr329Ser
847 ||Glycogen storage disease III ||232400 ||AGL ||c.1222C>T ||p.Arg408*
848 ||Glycogen storage disease III ||232400 ||AGL ||c.4455delT ||p.Leu1485=fs*
1032 ||Haim-Munk syndrome ||245010 ||CTSC ||c.857A>G ||p.Gln286Arg
144 ||Hemochromatosis ||235200 ||HFE ||c.187C>G ||p.His63Asp
145 ||Hemochromatosis ||235200 ||HFE ||c.193A>T ||p.Ser65Cys
146 ||Hemochromatosis ||235200 ||HFE ||c.845G>A ||p.Cys282Tyr
1172 ||Sickle Cell Anemia ||603903 ||HBB ||c.19G>A ||p.Glu7Gln
1173 ||Sickle Cell Anemia ||603903 ||HBB ||c.20A>T ||p.Glu7Val
1174 ||Sickle Cell Anemia ||603903 ||HBB ||c.364G>A ||p.Glu122Lys
1175 ||Sickle Cell Anemia ||603903 ||HBB ||c.364G>C ||p.Glu122Gln
1171 ||Hemoglobin H disease, nondeletional ||613978 ||HBA2 ||c.427T>C ||p.*143Gln
1176 ||Sickle Cell Anemia ||603903 ||HBB ||c.79G>A ||p.Glu27Lys
58 ||Complement factor H deficiency ||609814 ||CFH ||c.3674A>T;3675_3699del24 ||p.Tyr1225Phefs*4
274 ||Deafness, autosomal recessive 7 ||600974 ||TMC1 ||c.100C>T ||p.Arg34*
196 ||Deafness, nonsyndromic sensorineural, mitochondrial ||500008 ||MT-RNR1 ||m.1555A>G ||mtDNA
857 ||Megaloblastic anemia-1, Norwegian type ||261100 ||AMN ||c.208-2A>G ||Intron
98 ||Exostoses, multiple, type 1 ||133700 ||EXT1 ||c.1415T>A ||p.Leu472*
303 ||Colorectal cancer, hereditary nonpolyposis, type 2 ||609310 ||MLH1 ||c.1770_1771 delGA ||p.Asp591*
186 ||Colorectal cancer, hereditary nonpolyposis, type 1 ||120435 ||MSH2 ||c.1906G>C ||p.Ala636Pro
188 ||Colorectal cancer, hereditary nonpolyposis, type 5 ||609310 ||MSH6 ||c.3516_3519delAGTG ||p.Arg1172Serfs*11
189 ||Colorectal cancer, hereditary nonpolyposis, type 5 ||609310 ||MSH6 ||c.3959_3962delCAAG ||p.Ala1320Glufs*6
190 ||Colorectal cancer, hereditary nonpolyposis, type 5 ||609310 ||MSH6 ||c.3984insGTCA ||p.Leu1330Valfs*12
187 ||Colorectal cancer, hereditary nonpolyposis, type 1 ||120435 ||MSH2 ||c.970_971delCA ||p.Gln324Valfs*8
272 ||Spastic paraplegia 49, autosomal recessive ||615031 ||TECPR2 ||c.3416delT ||p.Leu1139Argfs*75
1213 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMB3 ||c.1903C>T ||p.Arg635*
1212 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMA3 ||c.1981C>T ||p.Arg661*
1214 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMB3 ||c.3024delT ||fs
1215 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMB3 ||c.430C>T ||p.Arg144*
1216 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMB3 ||c.727C>T ||p.Gln243*
1199 ||Hermansky-Pudlak syndrome 6 ||614075 ||HPS6 ||c.1065insG ||fs
1195 ||Hermansky-Pudlak syndrome 3 ||614072 ||HPS3 ||c.1163+1G>A ||Intron
1196 ||Hermansky-Pudlak syndrome 3 ||614072 ||HPS3 ||c.1691+2T>G ||Intron
1197 ||Hermansky-Pudlak syndrome 3 ||614072 ||HPS3 ||c.2482-2A>G ||Intron
1198 ||Hermansky-Pudlak syndrome 3 ||614072 ||HPS3 ||Large deletion ||Large deletion
1164 ||Inclusion body myopathy, autosomal recessive ||600737 ||GNE ||c.2135T>C ||p.Met712Thr
1194 ||HMG-CoA lyase deficiency ||246450 ||HMGCL ||c.122G>A ||p.Arg41Gln
252 ||Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis ||613845 ||SARS2 ||c.1169A>G ||p.Asp390Gly
1200 ||Mucopolysaccharidosis Ih ||607014 ||IDUA ||c.1205G>A ||p.Trp402*
1201 ||Mucopolysaccharidosis Ih ||607014 ||IDUA ||c.1598C>G ||p.Pro533Arg
1202 ||Mucopolysaccharidosis Ih ||607014 ||IDUA ||c.208C>T ||p.Gln70*
1219 ||Hypercholesterolemia, familial ||143890 ||LDLR ||c.2043C>A ||p.Cys681*
1220 ||Hypercholesterolemia, familial ||143890 ||LDLR ||c.652_654delGGT ||p.Gly218del
1221 ||Hypercholesterolemia, familial ||143890 ||LDLR ||c.681C>G ||p.Asp227Glu
1222 ||Hypercholesterolemia, familial ||143890 ||LDLR ||Large deletion ||Large deletion
1055 ||Hyperoxaluria, primary, type III ||613616 ||DHDPSL ||c.860G>T ||p.Gly287Val
1056 ||Hyperoxaluria, primary, type III ||613616 ||DHDPSL ||c.944_946delAGG ||fs
849 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.121G>A ||p.Gly41Arg
850 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.731T>C ||p.Ile244Thr
12 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.33insC ||p.Lys12Glnfs*156
13 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.584T>G ||p.Met195Arg
14 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.697C>T ||p.Arg233Cys
15 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.727G>C ||p.Asp243His
16 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.837T>G ||p.Ile279Met
17 ||Hyperoxaluria, primary, type 1 ||259900 ||AGXT ||c.997A>T ||p.Arg333*
113 ||Hypochondroplasia ||146000 ||FGFR3 ||c.1620C>A ||p.Asn540Lys
114 ||Hypochondroplasia ||146000 ||FGFR3 ||c.1620C>G ||p.Asn540Lys
7 ||Hyperinsulinemic hypoglycemia, familial, 1 ||256450 ||ABCC8 ||c.2506C>T ||p.Arg836*
158 ||Hypogonadotropic hypogonadism 8 with or without anosmia ||614837 ||KISS1R ||c.305T>C ||p.Leu102Pro
159 ||Hypogonadotropic hypogonadism 8 with or without anosmia ||614837 ||KISS1R ||c.815T>C ||p.Phe272Ser
1332 ||Hypothyroidism, congenital, nongoitrous, 1 ||275200 ||TSHR ||c.1825C>T ||p.Arg609*
1333 ||Hypothyroidism, congenital, nongoitrous, 1 ||275200 ||TSHR ||c.1957C>G ||p.Leu653Val
270 ||Hypoparathyroidism-retardation-dysmorphism syndrome ||241410 ||TBCE ||c.155_166delGCCACGAAGGGA ||p.Ser52Thrfs*473
291 ||Hypophosphatasia, infantile ||241500 ||ALPL ||c.1348C>T ||p.Arg450Cys
122 ||Ichthyosis vulgaris ||146700 ||FLG ||c.1501C>T ||p.Arg501*
123 ||Ichthyosis vulgaris ||146700 ||FLG ||c.2282_2285delCAGT ||p.Ser762Cysfs*36
275 ||Dystonia-1, torsion ||128100 ||TOR1A ||c.904_906delGAG ||p.Glu302del
217 ||Striatonigral degeneration, infantile ||271930 ||NUP62 ||c.1172A>C ||p.Gln391Pro
1228 ||Microcephaly, postnatal progressive, with seizures and brain atrophy ||613668 ||MED17 ||c.1112T>C ||p.Leu371Pro
226 ||Infantile neuroaxonal dystrophy 1 ||256600 ||PLA2G6 ||c.2070_2072delTGT ||p.Val691del
258 ||Sialic acid storage disorder, infantile ||269920 ||SLC17A5 ||c.983G>A ||p.Gly328Glu
137 ||Growth hormone deficiency, isolated, type IB ||262400 ||GHRHR ||c.1069C>T ||p.Arg357Cys
299 ||Growth hormone deficiency, isolated, type IA ||262400 ||GH1 ||c.456+5G>C ||Intron
1211 ||Isovaleric acidemia ||243500 ||IVD ||c.941C>T ||p.Ala314Val
235 ||Metaphyseal chondrodysplasia, Murk Jansen type ||156400 ||PTH1R ||c.1228A>C ||p.Thr410Pro
236 ||Metaphyseal chondrodysplasia, Murk Jansen type ||156400 ||PTH1R ||c.668A>G ||p.His223Arg
1327 ||Joubert syndrome 2 ||608091 ||TMEM216 ||c.218G>A ||p.Arg73His
1328 ||Joubert syndrome 2 ||608091 ||TMEM216 ||c.218G>T ||p.Arg73Leu
1329 ||Joubert syndrome 2 ||608091 ||TMEM216 ||c.230G>C ||p.Gly77Ala
164 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMC2 ||c.1756C>T ||p.Arg586*
162 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMB3 ||c.2166C>A ||p.Tyr722*
163 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMB3 ||c.2914C>T ||p.Arg972*
160 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMA3 ||c.2975delA ||p.Asn992Ilefs*47
161 ||Epidermolysis bullosa, junctional, Herlitz type ||226700 ||LAMA3 ||c.4815G>T ||p.Lys1605Asn
249 ||Kohlschutter-Tonz syndrome ||226750 ||ROGDI ||c.469C>T ||p.Arg157*
1113 ||Krabbe disease ||245200 ||GALC ||c.1630G>A ||p.Asp544Asn
1114 ||Krabbe disease ||245200 ||GALC ||c.1796T>G ||p.Ile599Ser
1144 ||Laron dwarfism ||262500 ||GHR ||c.11G>A ||p.Trp4*
1145 ||Laron dwarfism ||262500 ||GHR ||c.594A>G ||p.Glu198=
1146 ||Laron dwarfism ||262500 ||GHR ||c.686G>A ||p.Arg229His
1147 ||Laron dwarfism ||262500 ||GHR ||c.703C>T ||p.Arg235*
1148 ||Laron dwarfism ||262500 ||GHR ||c.744delT ||fs
851 ||Leber congenital amaurosis 4 ||604393 ||AIPL1 ||c.211G>T ||p.Val71Phe
141 ||Leber congenital amaurosis 1 ||204000 ||GUCY2D ||c.389delC ||p.Pro130Leufs*36
1029 ||Leber congenital amaurosis 8 ||613835 ||CRB1 ||c.4121_4130delCAACTCAGGG ||fs
1218 ||Leber congenital amaurosis 5 ||604537 ||LCA5 ||c.835C>T ||p.Gln279*
1293 ||Leber congenital amaurosis 2 ||204100 ||RPE65 ||c.95-2A>T ||Intron
195 ||Leber hereditary optic neuropathy ||535000 ||MT-ND6 ||c.14484T>C ||p.Met64Val
194 ||Leber hereditary optic neuropathy ||535000 ||MT-ND4 ||m.11778G>A ||p.Arg340His
1320 ||Leigh syndrome, due to COX deficiency ||256000 ||SURF1 ||c.312_321delTCTGCCAGCCinsAT ||fs
1322 ||Leigh syndrome, due to COX deficiency ||256000 ||SURF1 ||c.574_575insGTGC ||fs
269 ||Leigh syndrome, due to COX deficiency ||256000 ||SURF1 ||c.845_846delCT ||p.Ser282Cysfs*9
55 ||Leigh syndrome ||256000 ||C20ORF7 ||c.749 G>T ||p.Gly250Val
191 ||Leigh Syndrome ||256000 ||MT-ATP6 ||m.8993T>G ||p.Leu156Arg
237 ||LEOPARD syndrome 1 ||151100 ||PTPN11 ||c.1403C>T ||p.Thr468Met
238 ||LEOPARD syndrome 1 ||151100 ||PTPN11 ||c.836A>G ||p.Tyr279Cys
1063 ||Muscular dystrophy, limb-girdle, type 2B ||253601 ||DYSF ||c.2372C>G ||p.Pro791Arg
1064 ||Muscular dystrophy, limb-girdle, type 2B ||253601 ||DYSF ||c.2779delG ||fs
1065 ||Muscular dystrophy, limb-girdle, type 2B ||253601 ||DYSF ||c.4872_4876delGCCCGinsCCCC ||fs
1066 ||Muscular dystrophy, limb-girdle, type 2B ||253601 ||DYSF ||c.5038_5057+3ins23 ||fs
1067 ||Muscular dystrophy, limb-girdle, type 2B ||253601 ||DYSF ||c.5057+5G>A ||Intron
1068 ||Muscular dystrophy, limb-girdle, type 2B ||253601 ||DYSF ||c.5429G>A ||p.Arg1810Lys
265 ||Meleda disease ||248300 ||SLURP1 ||c.256G>A ||p.Gly86Arg
266 ||Meleda disease ||248300 ||SLURP1 ||c.256G>C ||p.Gly86Arg
169 ||Mandibuloacral dysplasia ||248370 ||LMNA ||c.1580G>A ||p.Arg527His
105 ||Marfan syndrome ||154700 ||FBN1 ||c.3037G>A ||p.Gly1013Arg
106 ||Marfan syndrome ||154700 ||FBN1 ||c.3037G>C ||p.Gly1013Arg
107 ||Marfan syndrome ||154700 ||FBN1 ||c.3410G>C ||p.Arg1137Pro
140 ||Meconium ileus ||614665 ||GUCY2C ||c.1160A>G ||p.Asp387Gly
57 ||Melanoma, cutaneous malignant, 2 ||600160 ||CDKN2A ||c.176T>G ||p.Val59Gly
199 ||MELAS syndrome ||540000 ||MT-TL1 ||m.3243A>G ||mtDNA
198 ||MERRF syndrome ||545000 ||MT-TK ||m.8344A>G ||mtDNA
24 ||Metachromatic leukodystrophy ||250100 ||ARSA ||c.576G>C ||p.Gln192His
192 ||Homocystinuria due to MTHFR deficiency ||236250 ||MTHFR ||c.474A>T ||p.Gly158Gly
1250 ||Complex I, mitochondrial respiratory chain, deficiency of ||252010 ||NDUFS6 ||c.344G>A ||p.Cys115Tyr
280 ||Mitochondrial complex III deficiency ||124000 ||UQCRQ ||c.134C>T ||p.Ser45Phe
297 ||Mitochondrial DNA depletion syndrome 5 ||612073 ||SUCLA2 ||c.789del43ins5 ||p.Asp263Glufs*1
83 ||Mitochondrial DNA depletion syndrome 3 ||251880 ||DGUOK ||c.255delA ||p.Ala86Profs*13
273 ||Mitochondrial DNA depletion syndrome 2 ||609560 ||TK2 ||c.635T>A ||p.Ile212Asn
1287 ||Mitochondrial myopathy and sideroblastic anemia 1 ||600462 ||PUS1 ||c.430C>T ||p.Arg116Trp
184 ||Megalencephalic leukoencephalopathy with subcortical cysts ||604004 ||MLC1 ||c.135insC ||p.Cys46Alafs*12
1229 ||Megalencephalic leukoencephalopathy with subcortical cysts ||604004 ||MLC1 ||c.176G>A ||p.Gly59Glu
1230 ||Megalencephalic leukoencephalopathy with subcortical cysts ||604004 ||MLC1 ||c.274C>T ||p.Pro92Ser
1231 ||Megalencephalic leukoencephalopathy with subcortical cysts ||604004 ||MLC1 ||c.278C>T ||p.Ser93Leu
859 ||Metachromatic leukodystrophy ||250100 ||ARSA ||c.1136C>T ||p.Pro379Leu
860 ||Metachromatic leukodystrophy ||250100 ||ARSA ||c.1283C>T ||p.Pro428Leu
861 ||Metachromatic leukodystrophy ||250100 ||ARSA ||c.465+1G>A ||Intron
863 ||Metachromatic leukodystrophy ||250100 ||ARSA ||c.827C>T ||p.Thr276Met
1165 ||Mucolipidosis III gamma ||252605 ||GNPTG ||c.499insC ||fs
1226 ||Mucolipidosis IV ||252650 ||MCOLN1 ||c.406-2A>G ||Intron
1227 ||Mucolipidosis IV ||252650 ||MCOLN1 ||Large deletion ||Large deletion
1232 ||Molybdenum cofactor deficiency, type A ||252150 ||MOCS1 ||c.722delT ||fs
1233 ||Molybdenum cofactor deficiency, type A ||252150 ||MOCS1 ||c.971G>A ||p.GLY324GLU
1059 ||Hypotrichosis, localized, autosomal recessive ||607903 ||DSG4 ||c.216+1G>T ||Intron
1060 ||Hypotrichosis, localized, autosomal recessive ||607903 ||DSG4 ||c.763delT ||fs
1061 ||Hypotrichosis, localized, autosomal recessive ||607903 ||DSG4 ||c.800C>G ||p.Pro267Arg
1062 ||Hypotrichosis, localized, autosomal recessive ||607903 ||DSG4 ||c.865C>T ||p.Arg289*
892 ||Maple syrup urine disease, type Ia ||248600 ||BCKDHA ||c.859C>T ||p.Arg287*
893 ||Maple syrup urine disease, type Ib ||248600 ||BCKDHB ||c.1016C>T ||p.Ser289Leu
894 ||Maple syrup urine disease, type Ib ||248600 ||BCKDHB ||c.1114G>T ||p.Glu372*
895 ||Maple syrup urine disease, type Ib ||248600 ||BCKDHB ||c.548G>C ||p.Arg183Pro
896 ||Maple syrup urine disease, type Ib ||248600 ||BCKDHB ||c.832G>A ||p.Gly278Ser
1051 ||Maple syrup urine disease, type II ||248600 ||DBT ||c.581C>G ||p.Ser194*
1052 ||Maple syrup urine disease, type II ||248600 ||DBT ||Large deletion ||Large deletion
1057 ||Maple syrup urine disease, type III ||248600 ||DLD ||c.105insA ||fs
1058 ||Maple syrup urine disease, type III ||248600 ||DLD ||c.685G>T ||p.Gly229Cys
115 ||Muenke syndrome ||602849 ||FGFR3 ||c.749C>G ||p.Pro250Arg
224 ||Multiple congenital anomalies-hypotonia-seizures syndrome 1 ||614080 ||PIGN ||c.2126G>A ||p.Arg709Gln
277 ||Mitochondrial DNA depletion syndrome 1 ||603041 ||TYMP ||c.433G>A ||p.Gly145Arg
301 ||Inclusion body myopathy-3 ||605637 ||MYH2 ||c.2400delG ||p.Phe801SerfsX28
1251 ||Nemaline myopathy 2, autosomal recessive ||256030 ||NEB ||Large deletion ||fs
155 ||Nephronophthisis 2, infantile ||602088 ||INVS ||c.2719C>T ||p.Arg907*
215 ||Nephrotic syndrome, type 2 ||600995 ||NPHS2 ||c.412C>T ||p.Arg138*
212 ||Neurofibromatosis, type 1 ||162200 ||NF1 ||c.1541_1542delAG ||p.Gln514Argfs*43
213 ||Neurofibromatosis, type 1 ||162200 ||NF1 ||c.5839C>T ||p.Arg1947*
1315 ||Niemann-Pick disease, type A ||257200 ||SMPD1 ||c.1493G>T ||p.Arg498Leu
1316 ||Niemann-Pick disease, type A ||257200 ||SMPD1 ||c.573delT ||fs
1317 ||Niemann-Pick disease, type A ||257200 ||SMPD1 ||c.911T>C ||p.Leu304Pro
1318 ||Niemann-Pick disease, type A ||257200 ||SMPD1 ||c.996delC ||fs
1319 ||Niemann-Pick disease, type B ||607616 ||SMPD1 ||c.1828_1830delCGC ||p.Arg610del
858 ||Glycine encephalopathy ||605899 ||AMT ||c.125A>G ||p.His42Arg
1163 ||Glycine encephalopathy ||605899 ||GLDC ||c.2405C>T ||p.Ala802Val
139 ||Glycine encephalopathy ||605899 ||GLDC ||c.2607C>A ||p.Pro869=
239 ||Noonan syndrome 1 ||163950 ||PTPN11 ||c.922A>G ||p.Asn308Asp
240 ||Noonan syndrome 1 ||163950 ||PTPN11 ||c.923A>G ||p.Asn308Ser
278 ||Albinism, oculocutaneous, type I ||203100 ||TYR ||c.1037-7T>A ||Intron
279 ||Albinism, oculocutaneous, type I ||203100 ||TYR ||c.649delC ||p.Arg217Glyfs*9
218 ||Albinism, oculocutaneous, type II ||203200 ||OCA2 ||c.2372_2373delTC ||p.Val791Glyfs*58
268 ||Osteopetrosis, autosomal recessive 8 ||615085 ||SNX10 ||c.152G>A ||p.Arg51Gln
271 ||Osteopetrosis, autosomal recessive 1 ||259700 ||TCIRG1 ||c.1331G>T ||p.Arg444Leu
1296 ||Pontocerebellar hypoplasia type 2D ||613811 ||SEPSECS ||c.1001A>G ||p.Tyr334Cys
1297 ||Pontocerebellar hypoplasia type 2D ||613811 ||SEPSECS ||c.715G>A ||p.Ala239Thr
292 ||Leukodystrophy, hypomyelinating, 3 ||260600 ||AIMP1 ||c.292_293delCA ||p.Gln98Valfs*30
154 ||Leukodystrophy, hypomyelinating, 4 ||612233 ||HSPD1 ||c.86A>G ||p.Asp29Gly
1302 ||Pendred syndrome ||274600 ||SLC26A4 ||c.1001G>T ||p.Gly334Val
1303 ||Pendred syndrome ||274600 ||SLC26A4 ||c.1151A>G ||p.Glu384Gly
1304 ||Pendred syndrome ||274600 ||SLC26A4 ||c.1198delT ||fs
1305 ||Pendred syndrome ||274600 ||SLC26A4 ||c.1246A>C ||p.Thr416Pro
1306 ||Pendred syndrome ||274600 ||SLC26A4 ||c.1341+1delG ||fs
1307 ||Pendred syndrome ||274600 ||SLC26A4 ||c.2000T>G ||p.Phe667Cys
1308 ||Pendred syndrome ||274600 ||SLC26A4 ||c.2168A>G ||p.His723Arg
1309 ||Pendred syndrome ||274600 ||SLC26A4 ||c.349C>T ||p.Leu117Phe
1310 ||Pendred syndrome ||274600 ||SLC26A4 ||c.707T>C ||p.Leu236Pro
1311 ||Pendred syndrome ||274600 ||SLC26A4 ||c.716T>A ||p.Val239Asp
839 ||Hyperinsulinemic hypoglycemia, familial, 1 ||256450 ||ABCC8 ||c.3989-9G>A ||Intron
840 ||Hyperinsulinemic hypoglycemia, familial, 1 ||256450 ||ABCC8 ||c.4159_4161delTTC ||p.Phe1387del
841 ||Hyperinsulinemic hypoglycemia, familial, 1 ||256450 ||ABCC8 ||c.560T>A ||p.Val187Asp
219 ||Phenylketonuria ||261600 ||PAH ||c.722G>A ||p.Arg241His
1263 ||Phenylketonuria ||261600 ||PAH ||c.1045T>C ||p.Ser349Pro
1264 ||Phenylketonuria ||261600 ||PAH ||c.1066-11G>A ||Intron
1265 ||Phenylketonuria ||261600 ||PAH ||c.1208C>T ||p.Ala403Val
1266 ||Phenylketonuria ||261600 ||PAH ||c.1222C>T ||p.Arg408Trp
1267 ||Phenylketonuria ||261600 ||PAH ||c.1315+1G>A ||Intron
1268 ||Phenylketonuria ||261600 ||PAH ||c.143T>C ||p.Leu48Ser
1269 ||Phenylketonuria ||261600 ||PAH ||c.165delT ||fs
1270 ||Phenylketonuria ||261600 ||PAH ||c.165T>G ||p.Phe55Leu
1271 ||Phenylketonuria ||261600 ||PAH ||c.441+5G>T ||Intron
1272 ||Phenylketonuria ||261600 ||PAH ||c.473G>A ||p.Arg158Gln
1273 ||Phenylketonuria ||261600 ||PAH ||c.533A>G ||p.Glu178Gly
1274 ||Phenylketonuria ||261600 ||PAH ||c.689T>C ||p.Val230Ala
1275 ||Phenylketonuria ||261600 ||PAH ||c.754C>T ||p.Arg252Trp
1276 ||Phenylketonuria ||261600 ||PAH ||c.782G>A ||p.Arg261Gln
1277 ||Phenylketonuria ||261600 ||PAH ||c.842C>T ||p.Pro281Leu
1278 ||Phenylketonuria ||261600 ||PAH ||c.898G>T ||p.Ala300Ser
852 ||Autoimmune polyendocrinopathy syndrome , type I ||240300 ||AIRE ||c.1163_1164insA ||p.Met388fs*35
853 ||Autoimmune polyendocrinopathy syndrome , type I ||240300 ||AIRE ||c.247A>G ||p.Lys83Glu
854 ||Autoimmune polyendocrinopathy syndrome , type I ||240300 ||AIRE ||c.254A>G ||p.Tyr85Cys
855 ||Autoimmune polyendocrinopathy syndrome , type I ||240300 ||AIRE ||c.769C>T ||p.Arg257*
856 ||Autoimmune polyendocrinopathy syndrome , type I ||240300 ||AIRE ||c.967_979delCTGTCCCCTCCGC ||p.Cys322fs*372
1111 ||Glycogen storage disease II ||232300 ||GAA ||c.1935C>A ||p.Asp645Glu
1112 ||Glycogen storage disease II ||232300 ||GAA ||c.-32-13T>G ||5' UTR
290 ||Glycogen storage disease II ||232300 ||GAA ||c.1064T>C ||p.Leu355Pro
127 ||Glycogen storage disease II ||232300 ||GAA ||c.1210G>A ||p.Asp404Asn
288 ||Glycogen storage disease II ||232300 ||GAA ||c.670C>T ||p.Arg224Trp
250 ||Ciliary dyskinesia, primary, 12 ||612650 ||RSPH9 ||c.804_806delGAA ||p.Lys268del
93 ||Ciliary dyskinesia, primary, 9 ||612444 ||DNAI2 ||c.1304G>A ||p.Trp435*
94 ||Ciliary dyskinesia, primary, 9 ||612444 ||DNAI2 ||c.1494+1G>A ||Intron
95 ||Ciliary dyskinesia, primary, 9 ||612444 ||DNAL1 ||c.449A>G ||p.Asn150Ser
231 ||Epilepsy, progressive myoclonic 1B ||612437 ||PRICKLE1 ||c.311G>A ||p.Arg104Gln
286 ||Spondyloepiphyseal dysplasia tarda with progressive arthropathy ||208230 ||WISP3 ||c.536_537delGT ||p.Cys179*
221 ||Prolidase deficiency ||170100 ||PEPD ||c.1103T>G ||p.Leu368Arg
1282 ||Prolidase deficiency ||170100 ||PEPD ||c.605C>T ||p.Ser202Phe
222 ||Prolidase deficiency ||170100 ||PEPD ||c.634G>C ||p.Ala212Pro
890 ||Butyrylcholinesterase Deficiency ||177400 ||BCHE ||c.293A>G ||p.Asp98Gly
1033 ||Pycnodysostosis ||265800 ||CTSK ||c.990A>G ||p.*330Trp
229 ||Pyridoxamine 5'-phosphate oxidase deficiency ||610090 ||PNPO ||c.284G>A ||p.Arg95His
264 ||Renal glucosuria ||233100 ||SLC5A2 ||c.962A>G ||p.Lys321Arg
220 ||Renal hypoplasia, isolated ||191830 ||PAX2 ||c.76insG ||p.Val26Glyfs*28
1070 ||Retinitis pigmentosa 25 ||602772 ||EYS ||c.1211insA ||fs
1054 ||Retinitis pigmentosa 59 ||613861 ||DHDDS ||c.124A>G ||p.Lys42Glu
1081 ||Retinitis pigmentosa 28 ||606068 ||FAM161A ||c.1309A>T ||p.Arg437*
1082 ||Retinitis pigmentosa 28 ||606068 ||FAM161A ||c.1355_1356delCA ||p.Thr452Serfs*3
1334 ||Retinitis pigmentosa 14 ||600132 ||TULP1 ||c.1495+2insT ||Intron
1083 ||Retinitis pigmentosa 28 ||606068 ||FAM161A ||c.1567C>T ||p.Arg523*
1084 ||Retinitis pigmentosa 28 ||606068 ||FAM161A ||c.1618C>T ||p.Arg540*
1084 ||Retinitis pigmentosa 28 ||606068 ||FAM161A ||c.1618C>T ||p.Arg596*
1281 ||Retinitis pigmentosa 57 ||613582 ||PDE6G ||c.187+1G>T ||Intron
902 ||Retinitis pigmentosa 26 ||608380 ||CERKL ||c.238+1G>A ||Intron
293 ||Retinitis pigmentosa 64 ||614500 ||C8ORF37 ||c.545A>G ||p.Gln182Arg
1286 ||Retinitis pigmentosa 36 ||610599 ||PRCD ||c.64C>T ||p.Arg22*
100 ||Retinitis pigmentosa 25 ||602772 ||EYS ||c.8155_8156delCA ||p.His2719Tyrfs*27
282 ||Rickets, vitamin D-resistant, type IIA ||277440 ||VDR ||c.885C>A ||p.Tyr295*
261 ||Hypophosphatemic rickets with hypercalciuria ||241530 ||SLC34A3 ||c.228delC ||p.Cys77Alafs*75
251 ||Minicore myopathy with external ophthalmoplegia ||255320 ||RYR1 ||c.3263A>G ||p.Tyr1088Cys
294 ||Sandhoff disease ||268800 ||HEXB ||c.1082+5G>A ||Intron
1298 ||Mucopolysaccharidosis type IIIA (Sanfilippo A) ||252900 ||SGSH ||c.1093C>T ||p.Gln365*
1299 ||Mucopolysaccharidosis type IIIA (Sanfilippo A) ||252900 ||SGSH ||c.1298G>A ||p.Arg433Gln
1300 ||Mucopolysaccharidosis type IIIA (Sanfilippo A) ||252900 ||SGSH ||c.544C>T ||p.Arg182Cys
1301 ||Mucopolysaccharidosis type IIIA (Sanfilippo A) ||252900 ||SGSH ||c.812C>T ||p.Thr271Met
843 ||Acyl-CoA dehydrogenase, short-chain, deficiency of ||201470 ||ACADS ||c.319C>T ||p.Arg107Cys
844 ||Acyl-CoA dehydrogenase, short-chain, deficiency of ||201470 ||ACADS ||c.511C>T ||p.Arg171Trp
845 ||Acyl-CoA dehydrogenase, short-chain, deficiency of ||201470 ||ACADS ||c.625G>A ||p.Gly209Ser
242 ||Severe combined immunodeficiency, B cell-negative ||601457 ||RAG1 ||c.1361T>A ||p.Leu454Gln
244 ||Severe combined immunodeficiency, B cell-negative ||601457 ||RAG2 ||c.193G>T ||p.Asp65Tyr
245 ||Severe combined immunodeficiency, B cell-negative ||601457 ||RAG2 ||c.685C>T ||p.Arg229Trp
8 ||Severe combined immunodeficiency due to ADA deficiency ||102700 ||ADA ||c.703C>T ||p.Arg235Trp
9 ||Severe combined immunodeficiency due to ADA deficiency ||102700 ||ADA ||c.792G>A ||p.Trp264*
243 ||Severe combined immunodeficiency, B cell-negative ||601457 ||RAG2 ||c.104G>T ||p.Gly35Val
85 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.1054C>T ||p.Arg352Trp
86 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.1210C>T ||p.Arg404Cys
87 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.278C>T ||p.Thr93Met
88 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.452G>A ||p.Trp151*
89 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.452G>C ||p.Trp151Ser
90 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.453G>A ||p.Trp151*
91 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.964-1G>C ||Intron
92 ||Smith-Lemli-Opitz syndrome ||270400 ||DHCR7 ||c.976G>T ||p.Val326Leu
1203 ||Neuronopathy, distal hereditary motor, type VI ||604320 ||IGHMBP2 ||c.114delA ||fs
295 ||Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis ||614813 ||POC1A ||c.512T>C ||p.Leu171Pro
284 ||Pontocerebellar hypoplasia type 1A ||607596 ||VRK1 ||c.1072C>T ||p.Arg358*
82 ||Spondylometaepiphyseal dysplasia, short limb-hand type ||271665 ||DDR2 ||c.2254C>T ||p.Arg752Cys
1223 ||Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome ||601559 ||LIFR ||c.1601-1G>A ||Intron
165 ||Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome ||601559 ||LIFR ||c.2472_2476delTATGT ||p.Ser824Argfs*41
1 ||Surfactant metabolism dysfunction, pulmonary, 3 ||610921 ||ABCA3 ||c.316C>T ||p.Arg106*
1177 ||Tay-Sachs disease ||272800 ||HEXA ||c.1073+1G>A ||Intron
1178 ||Tay-Sachs disease ||272800 ||HEXA ||c.1274_1277insTATC ||fs
1179 ||Tay-Sachs disease ||272800 ||HEXA ||c.1306A>G ||p.Ile436Val
1180 ||Tay-Sachs disease ||272800 ||HEXA ||c.1351C>G ||p.Leu451Val
1181 ||Tay-Sachs disease ||272800 ||HEXA ||c.1421+1G>C ||Intron
1182 ||Tay-Sachs disease ||272800 ||HEXA ||c.1444G>A ||p.Glu482Lys
142 ||Tay-Sachs disease ||272800 ||HEXA ||c.496delC ||p.Arg166Alafs*33
1183 ||Tay-Sachs disease ||272800 ||HEXA ||c.509G>A ||p.Arg170Gln
1184 ||Tay-Sachs disease ||272800 ||HEXA ||c.532C>T ||p.Arg178Cys
1185 ||Tay-Sachs disease ||272800 ||HEXA ||c.533G>A ||p.Arg178His
1186 ||Tay-Sachs disease ||272800 ||HEXA ||c.533G>T ||p.Arg178Leu
1187 ||Tay-Sachs disease ||272800 ||HEXA ||c.540C>G ||p.Tyr180*
1188 ||Tay-Sachs disease ||272800 ||HEXA ||c.571-2A>G ||Intron
1189 ||Tay-Sachs disease ||272800 ||HEXA ||c.749G>T ||p.Gly250Val
1190 ||Tay-Sachs disease ||272800 ||HEXA ||c.805+1G>A ||Intron
1191 ||Tay-Sachs disease ||272800 ||HEXA ||c.805G>A ||p.Gly269Ser
143 ||Tay-Sachs disease ||272800 ||HEXA ||c.835T>C ||p.Ser279Pro
1192 ||Tay-Sachs disease ||272800 ||HEXA ||c.910_912delTTC ||p.Phe304del
116 ||Thanatophoric dysplasia, type I ||187600 ||FGFR3 ||c.742C>T ||p.Arg248Cys
117 ||Thanatophoric dysplasia, type II ||187601 ||FGFR3 ||c.1948A>G ||p.Lys650Glu
118 ||Thanatophoric dysplasia, type II ||187601 ||FGFR3 ||c.1949A>T ||p.Lys650Met
259 ||Thiamine-responsive megaloblastic anemia syndrome ||249270 ||SLC19A2 ||c.725delC ||p.Pro242Glnfs*18
1208 ||Glanzmann thrombasthenia ||273800 ||ITGB3 ||c.2031_2041delTGCAGTGAATT ||fs
1207 ||Glanzmann thrombasthenia ||273800 ||ITGA2B ||c.409-2_419delAGGCCTGCGCCCC ||fs
1209 ||Glanzmann thrombasthenia ||273800 ||ITGB3 ||c.428T>G ||p.Leu143Trp
1210 ||Glanzmann thrombasthenia ||273800 ||ITGB3 ||Large deletion ||Large deletion
1074 ||Thrombophilia due to thrombin defect ||188050 ||F2 ||3' UTR ||3' UTR
101 ||Thrombophilia due to thrombin defect ||188050 ||F2 ||c.*96C>T ||3' UTR
1075 ||Thrombophilia due to activated protein C resistance ||188055 ||F5 ||c.1601G>A ||p.Arg534Gln
1234 ||Thromboembolism, susceptibility to ||188050 ||MTHFR ||c.665C>T ||p.Ala222Val
1078 ||Tyrosinemia, type I ||276700 ||FAH ||c.1062+5G>A ||Intron
103 ||Tyrosinemia, type I ||276700 ||FAH ||c.554-1G>T ||Intron
1079 ||Tyrosinemia, type I ||276700 ||FAH ||c.782C>T ||p.Pro261Leu
1080 ||Tyrosinemia, type I ||276700 ||FAH ||c.786G>A ||p.Trp262*
302 ||Tyrosinemia, type III ||276710 ||HPD ||c.415-1G>A ||Intron
102 ||Tyrosinemia, type I ||276700 ||FAH ||c.192G>T ||p.Gln64His
104 ||Tyrosinemia, type I ||276700 ||FAH ||c.707-1G>C ||Intron
281 ||Usher syndrome, type 1C ||276904 ||USH1C ||c.1220delG ||p.Gly407Glufs*58
1241 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.1190C>A ||p.Ala397Asp
1242 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.1996C>T ||p.Arg666*
1243 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.2187+1G>A ||Intron
1244 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.2476G>A ||p.Ala826Thr
1245 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.470+1G>A ||Intron
1246 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.5581C>T ||p.Arg1861*
1247 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.6196delC ||fs
1248 ||Usher syndrome, type 1B ||276900 ||MYO7A ||c.640G>A ||p.Gly214Arg
1279 ||Usher syndrome, type 1F ||602083 ||PCDH15 ||c.5601_5603delAAC ||p.Thr1867_Thr1868delinsThr
1280 ||Usher syndrome, type 1F ||602083 ||PCDH15 ||c.733C>T ||p.Arg245*
1339 ||Usher syndrome, type 2A ||276901 ||USH2A ||c.1000C>T ||p.Arg334Trp
1340 ||Usher syndrome, type 2A ||276901 ||USH2A ||c.12067-2A>G ||Intron
1341 ||Usher syndrome, type 2A ||276901 ||USH2A ||c.2209C>T ||p.Arg737*
1342 ||Usher syndrome, type 2A ||276901 ||USH2A ||c.236_239insGTAC ||fs
1343 ||Usher syndrome, type 2A ||276901 ||USH2A ||c.4544C>T ||p.Thr1515Met
1344 ||Usher syndrome, type 2A ||276901 ||USH2A ||c.5519G>T ||p.Gly1840Val
1021 ||Usher syndrome, type 3A ||606397 ||CLRN1 ||c.144T>G ||p.Asn48Lys
1022 ||Usher syndrome, type 3A ||606397 ||CLRN1 ||c.528T>G ||p.Tyr176*
899 ||Ventricular tachycardia, catecholaminergic polymorphic, 2 ||114251 ||CASQ2 ||c.919G>C ||p.Asp307His
846 ||Acyl-CoA dehydrogenase, Very long-chain, deficiency of ||201475 ||ACADVL ||c.799_802delGTTA ||fs
121 ||Muscular dystrophy-dystroglycanopathy, type A, 4 ||253800 ||FKTN ||c.1167insA ||p.Phe390Ilefs*14
880 ||Wilson disease ||277900 ||ATP7B ||c.1340_1343delAAAC ||fs
881 ||Wilson disease ||277900 ||ATP7B ||c.1639delC ||fs
28 ||Wilson disease ||277900 ||ATP7B ||c.2293G>A ||p.Asp765Asn
883 ||Wilson disease ||277900 ||ATP7B ||c.2333G>T ||p.Arg778Leu
884 ||Wilson disease ||277900 ||ATP7B ||c.2337G>A ||p.Trp779*
885 ||Wilson disease ||277900 ||ATP7B ||c.2906G>A ||p.Arg969Gln
886 ||Wilson disease ||277900 ||ATP7B ||c.3207C>A ||p.His1069Gln
29 ||Wilson disease ||277900 ||ATP7B ||c.3402delC ||p.Ala1135Glnfs*13
887 ||Wilson disease ||277900 ||ATP7B ||c.3649_3654delGTTCTG ||fs
888 ||Wilson disease ||277900 ||ATP7B ||c.845delT ||fs
285 ||Wiskott-Aldrich syndrome ||301000 ||WAS ||c.119G>T ||p.Gly40Val
166 ||Wolman disease ||278000 ||LIPA ||c.260G>T ||p.Gly87Val
1224 ||Wolman disease ||278000 ||LIPA ||c.398delC ||fs
81 ||Woodhouse-Sakati syndrome ||241080 ||DCAF17 ||c.436delC ||p.Ala147Hisfs*9
230 ||Xeroderma pigmentosum, variant type ||278750 ||POLH ||c.522G>T ||p.Trp174Cys
287 ||Xeroderma pigmentosum, group C ||278720 ||XPC ||c.566_567delAT ||p.Tyr189Serfs*10
1283 ||Peroxisome biogenesis disorder 1A (Zellweger) ||214100 ||PEX1 ||c.2097insT ||fs
1284 ||Peroxisome biogenesis disorder 1A (Zellweger) ||214100 ||PEX1 ||c.2528G>A ||p.Gly843Asp
1285 ||Peroxisome biogenesis disorder 5A (Zellweger) ||614866 ||PEX2 ||c.550delC ||p.R184fs*7