11-hydroxylase deficiency, CYP11B1, 1343G>A, Arg448His

3-methylcrotonylglycinuria, MCCC2, 295G>C, Glu99Gln

3-methylcrotonylglycinuria, MCCC2, 518insT

3-ß-OH-steroid dehydrogenase deficiency, HSD3B2, 35G>A, Gly11Glu

Aldosterone deficiency, CYP11B2, 5 bp deletion

Alpha-1 antitrypsin deficiency, SERPINA1, 1096G>A, Glu342Lys

Amish microcephaly , SLC25A19, 530G>C, Gly177Ala

Bardet-Biedl syndrome, BBS1, 1169T>G, Met390Arg

Bartter syndrome, CLCNKB, 7 exon deletion,

Biotinidase deficiency, BTD, 1459T>C, Trp487Arg

Byler disease, ATP8B1, 923G>T, Gly308Val

Cardiomyopathy, dilated, with AV block, LMNA, 568C>T, Arg190Trp

Cardiomyopathy, hypertrophic, SLC25A4, 523delC

Cartilage-hair hypoplasia, RMRP, 70A>G

Chronic granulomatous disease, CYBB, 1335C>A, Cys445Ter

Cockayne syndrome, ERCC6, IVS14+1G>T,

Congenital nephrotic syndrome, NPHS1, 1481delC

Congenital nephrotic syndrome, NPHS1, 3250delG

Cortical dysplasia and focal epilepsy, CNTNAP2, 3709delG

Crigler-Najjar syndrome, UGT1A1, 222C>A, Tyr74Ter

Cystinuria, SLC3A1, IVS6+2T>C

Cystinuria, SLC3A1, 1354C>T, Arg452Trp

Cystinuria, SLC7A9, 201C>T, Ile67Ile

Cystinuria, SLC7A9, 1166C>T, Thr389Met

Deafness, non-syndromic, GJB2, 35delG

Ellis-van Creveld syndrome, EVC, IVS13+5G>T

Factor 11 deficiency, F11, 1327C>T, Arg443Cys

Familial hypercholanemia, TJP2, 143T>C, Val48Ala

Familial hypercholanemia, BAAT, 226A>G, Met76Val

Fragile X syndrome, FMR1, (CGG)n expansion

Galactosemia, GALT, 563A>G, Gln188Arg

Gittelman syndrome, SLC12A3, 1924C>A,

Glycogen storage disease, type 6, PYGL, IVS13+1G>A

GM3 synthase deficiency, ST3GAL5, 694C>T, Arg232Ter

Gutaric aciduria, type 1, GCDH, 1262C>T, Ala421Val

Gutaric aciduria, type 3

Hirschsprung disease, EDNRB, 828G>T, Trp276Cys

Homocystinuria, MTHFR, 1129C>T, Arg377Cys

LYK5 deficiency, LYK5, 7 kb deletion

Maple syrup urine disease, BCKDHA, 1312T>A, Tyr438Asn

McKusick-Kauffman syndrome, MKKS, [250C>T + 724G>T], His84Tyr/Ala242Ser

Medium-chain acyl-CoA dehydrogenase deficiency, ACADM, 985A>G, Lys329Glu

Medium-chain acyl-CoA dehydrogenase deficiency, ACADM, IVS4-30A>G

Mevalonate kinase deficiency, MVK, 803T>C, Ile268Thr

Mevalonate kinase deficiency, MVK, 1174G>A, Ala392Thr

Nemaline rod myopathy, TNNT1, 505G>T, Glu180Ter

Nephrotic syndrome, NPHS2, 413G>A, Arg138Gln

Osteogenesis imperfecta, COL1A2, 2098G>T, Gly610Cys

Osteoporosis-pseudoglioma syndrome, LRP5, 1225A>G, Thr409Ala

Osteoporosis-pseudoglioma syndrome, LRP5, 1275G>A, Trp425Ter

Periodic fever (TRAPS), TNFRSF1A, 362G>A, Arg121Gln

Phenylketonuria, PAH, 280-282delATC

Phenylketonuria, PAH, 782G>A, Arg261Gln

Phenylketonuria, PAH, IVS10-11G>A

Phenylketonuria, PAH, IVS12+1G>A

Primary ciliary dyskinesia, DNAH5, 4348C>T, Gln1450Ter

Properdin deficiency, PFC, 379T>G, Cys127Gly

Propionic acidemia, PCCB, 1606A>G, Asn536Asp

Pyruvate kinase deficiency, PKLR, 1436G>A, Arg479His

Restrictive dermopathy, ZMPSTE24, 54_55insT

Riehl syndrome, GJA12, 203A>G,

Salla disease, SLC17A5, 115C>T, Arg39Cys

Severe combined immune deficiency, RAG1, 2974A>G, Lys992Glu

Severe combined immune deficiency, IL7R, 2T>G

Sitosterolemia, ABCG8, 1720G>A, Gly574Arg

Spinal muscular atrophy, SMN1, exon 7 deletion

Sudden infant death with dysgenesis of the testes, TSPYL1, 457_458insG

Troyer syndrome, SPG20, 1110delA

Tyrosine hydroxylase deficiency, TH, 698G>A,

Tyrosinemia, type 3, HPD, 85G>A, Ala29Thr

Tyrosinemia, type 3, HPD, 479A>G

Tyrosinemia, type 3, HPD, 1005C>G

Vitamin B12 deficiency, AMN, 44 bp deletion

Weil-Marchesani syndrome, ADAMTS10, 15 exon del,