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