University of Southampton - Faculty of Medicine - dbass

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DBASS3

View - All Splices

A list of all the aberrant splices in the database can be found in the table below .

Phenotype & Gene	Mutation	Distance between Authentic and Aberrant 3' Splice Site (nt)	Terminal Exon	View Details
21-hydroxylase deficiency CYP21B	IVS2-13C>G	-19	No	Details
21-hydroxylase deficiency CYP21B	IVS2-13C>G	-33	No	Details
Acute intermittent porphyria HMBS	IVS8-1G>T	-15	No	Details
Adenosine deaminase deficiency ADA	IVS10-34G>A	-32	No	Details
Alpha-mannosidosis MAN2B1	IVS5-1G>C	+15	No	Details
Alpha-mannosidosis MAN2B1	IVS14-2A>G	+31	No	Details
Alport syndrome COL4A5	IVS29-5269A>G	-5268	No	Details
Amyotrophic lateral sclerosis SOD1	IVS4-10T>G	-9	No	Details
Androgen insensitivity AR	IVS2-11T>A	-69	No	Details
Antithrombin deficiency, type I SERPINC1	IVS4-14G>A	-12	No	Details
APOE deficiency APOE	IVS3-2A>G	-52	Yes	Details
Arrhytmogenic right ventricular cardiomyopathy PKP2	IVS12-1G>C	+17	No	Details
Arrhytmogenic right ventricular cardiomyopathy PKP2	IVS12-1G>C	-160	No	Details
Arrhytmogenic right ventricular cardiomyopathy PKP2	IVS12-1G>C	-160	No	Details
Ataxia telangiectasia ATM	IVS29-1G>A	+1	No	Details
Ataxia telangiectasia ATM	IVS47-9G>A	-7	No	Details
Ataxia telangiectasia ATM	IVS21-2A>G	+32	No	Details
Ataxia telangiectasia ATM	IVS64-1G>C	+13	Yes	Details
Ataxia telangiectasia ATM	IVS11-2A>G	+7	No	Details
Ataxia telangiectasia ATM	IVS38-2A>C	+61	No	Details
Ataxia telangiectasia ATM	IVS16-10T>G	-9	No	Details
Ataxia telangiectasia ATM	IVS32-12A>G	-11	No	Details
Ataxia telangiectasia ATM	IVS37-5delTCTA	+7	No	Details
Autoimmune lymphoproliferative syndrome APT1	IVS4-1G>C	+22	No	Details
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy AIRE	IVS5-5delCTC	-43	No	Details
Autosomal dominant optic atrophy OPA1	IVS25-9A>G	+39	No	Details
Autosomal dominant optic atrophy OPA1	IVS20-1G>A	+1	No	Details
Autosomal dominant optic atrophy OPA1	IVS9-1G>T	+21	No	Details
Autosomal dominant optic atrophy OPA1	IVS26-1G>T	+4	No	Details
Autosomal dominant polycystic kidney disease PKD1	IVS13-2A>T	+74	No	Details
Autosomal dominant retinitis pigmentosa PRPF31	IVS5-1G>A	+1	No	Details
Autosomal recessive primary microcephaly CDK5RAP2	IVS26-15A>G	-14	No	Details
Autosomal recessive retinitis pigmentosa PDE6B	IVS2-1G>T	+12	No	Details
Barth syndrome TAZ	IVS1-2A>G	+31	No	Details
Batten disease CLN3	IVS15-1G>T	+5	Yes	Details
B-cell chronic lymphocytic leukaemia TP53	IVS7-2A>C	-3	No	Details
B-cell chronic lymphocytic leukaemia TP53	IVS7-2A>C	+24	No	Details
Benign familial neonatal convulsions KCNQ2	IVS14-6C>A	-4	No	Details
Beta-mannosidosis MANBA	IVS15-2A>G	+172	No	Details
Beta-thalassemia HBB	IVS2-3C>A	-271	Yes	Details
Beta-thalassemia HBB	IVS2-2A>G	-271	Yes	Details
Beta-thalassemia HBB	IVS1-21G>A	-19	No	Details
Beta-thalassemia HBB	IVS1-15T>G	-14	No	Details
Biotinidase deficiency BTD	E1+56G>A	+57	No	Details
Breast cancer BRCA1	IVS5-12A>G	-11	No	Details
Breast cancer BRCA1	IVS7-24del10	-59	No	Details
Breast cancer BRCA2	IVS23-2A>G	+7	No	Details
Breast/ovarian cancer BRCA1	IVS11-2A>G	-1	No	Details
CD55 deficiency DAF	E5+18C>T	+44	No	Details
Cerebral cavernous malformations CCM2	c.205-1_2delinsT	+7	No	Details
Chitotriosidase deficiency CHIT1	E10+20dup24	+103	No	Details
Chronic granulomatous disease CYBB	IVS4-15del36	-179	No	Details
Citrullinemia ASS1	IVS14-1G>C	+7	Yes	Details
Citrullinemia ASS1	IVS15-1G>C	+7	Yes	Details
Coffin-Lowry syndrome RSK2	IVS4-11A>G	-10	No	Details
Cohen syndrome COH1	IVS51-1G>T	+16	No	Details
Colon tumor cell lines with microsatellite instability ATM	IVS4-4del3T	+22	No	Details
Congenital hypogonadotropic hypogonadism TAC3	c.209-1G>C (IVS3-1G>C)	-22	No	Details
Congenital hypothyroidism SLC5A5	E13+67C>G	+67	No	Details
Congenital insensitivity to pain with anhidrosis NTRK1 (TRKA)	IVS4-1G>C	-41	No	Details
Congenital myasthenia CHRNE	IVS5-16G>A	-14	No	Details
Congenital myasthenia CHRNE	IVS6-1G>C	+2	No	Details
Congenital myasthenia CHRNE	IVS10-9dup16	-16	No	Details
Craniometaphyseal dysplasia ANKH	IVS9-4A>G	-3	No	Details
Crigler-Najjar syndrome, type I UGT1A1	IVS4-1G>A	+7	Yes	Details
Crigler-Najjar syndrome, type I UGT1A1	IVS3-2A>G	+107	No	Details
Cystic fibrosis CFTR	IVS17a-26A>G	-25	No	Details
Cystic fibrosis CFTR	E4+1G>T	-183	No	Details
Cystic fibrosis CFTR	c.1002-1110_1113delTAAG	-1162	No	Details
Defect of N-/O-glycosylation, type IIe COG7	c.170-7A>G (IVS2-7A>G)	-6	No	Details
Deoxyguanosine kinase deficiency DGUOK	IVS3-62C>A	-60	No	Details
Dystonia GCH1	IVS2-2A>G	-1	No	Details
Ehlers-Danlos syndrome COL1A2	IVS5-2A>G	+15	No	Details
Ehlers-Danlos syndrome COL1A2	IVS5-1G>C	+15	No	Details
Ehlers-Danlos syndrome COL1A2	IVS5-1G>A	+15	No	Details
Ehlers-Danlos syndrome COL5A1	IVS13-2A>G	-100	No	Details
Ehlers-Danlos syndrome COL5A1	IVS4-2A>G	+12	No	Details
Ehlers-Danlos syndrome COL5A1	IVS4-2A>G	+15	No	Details
Epidermolysis bullosa COL17A1	IVS21-2A>C	+27	No	Details
Epidermolysis bullosa COL17A1	IVS31-1G>T	+9	No	Details
Epidermolysis bullosa COL17A1	IVS31-1G>T	-69	No	Details
Epidermolysis bullosa COL17A1	IVS31-1G>T	-264	No	Details
Epidermolysis bullosa COL17A1	IVS54-1G>A	+1	No	Details
Epidermolysis bullosa ITGB4	IVS31-19T>A	+38	No	Details
Epidermolysis bullosa KRT14	IVS2-2A>C	+10	No	Details
Epidermolysis bullosa LAMC2	IVS3-1G>A	+2	No	Details
Epistasis in Bardet-Biedl syndrome CCDC28B	E3+166C>T	+5	No	Details
Erythropoetic protoporphyria (partial ferrochelatase deficiency) FECH	IVS4-4A>G	-3	No	Details
Erythropoetic protoporphyria (partial ferrochelatase deficiency) FECH	IVS3-48T>C	-63	No	Details
Extrapyramidal movement disorder TH	IVS11-24T>A	-36	No	Details
F5 deficiency F5	IVS8-2A>G	-24	No	Details
Fabry disease GLA	IVS3-1G>A	+1	No	Details
Fabry disease GLA	IVS6-1G>A	+1	Yes	Details
Factor 12 deficiency F12	IVS13-1G>A	+1	Yes	Details
Familial hypercholesterolemia LDLR	IVS7-1G>C	+17	No	Details
Familial hypercholesterolemia LDLR	IVS9-1G>A	+7	No	Details
Familial hypercholesterolemia LDLR	IVS1-1G>C	+10	No	Details
Familial hypercholesterolemia LDLR	IVS9-30GTGCTGATGdelinsCGGCT	+54	No	Details
Familial hypercholesterolemia LDLR	E9+30C>A	+31	No	Details
Familial hypercholesterolemia LDLR	IVS7-1G>C	+17	No	Details
Familial hypercholesterolemia LDLR	c.1216C>A (E9, R385R))	+31	No	Details
Familial hypercholesterolemia LDLR	c.1359-1G>A (IVS9-1G>A)	+7	No	Details
Familial hyperinsulinemic hypoglycemia ABCC8	IVS32-9G>A	-7	No	Details
Familial hyperinsulinemic hypoglycemia ABCC8	IVS32-9G>A	+20	No	Details
Familial hyperinsulinemic hypoglycemia ABCC8	IVS32-9G>A	+30	No	Details
Familial hyperinsulinemic hypoglycemia ABCC8	IVS11-20A>G	-73	No	Details
Familial melanoma CDKN2A	E1beta+354G>C	+269	No	Details
Familial thrombocytopenia RUNX1	IVS3-1G>T	+13	No	Details
Fanconi anemia FANCA	IVS15-1G>T	-90	No	Details
Gangliosidosis GLB1	IVS14-2A>G	-28	No	Details
Gastrointestinal stromal tumors KIT	IVS10-6del34	+27	No	Details
Gastrointestinal stromal tumors KIT	IVS10-6del30	+27	No	Details
Gaucher disease GBA	IVS7-13C>G	-12	No	Details
Glanzmann thrombasthenia ITGA2B	IVS3-3del13	+18	No	Details
Glanzmann thrombasthenia ITGB3	E9+130G>A;E9+18C/A	-5	No	Details
Glucose-6-phosphate dehydrogenase deficiency G6PD	IVS10-2A>G	+9	No	Details
Glycogen storage disease, type Ia G6PC	E5+86G>T	+91	Yes	Details
Glycogen storage disease, type II GAA	IVS1-13T>G	+518	No	Details
Glycogen storage disease, type III AGL	IVS33+5G>A	+53	No	Details
Glycogenosis, type II GAA	IVS6-22T>G	-21	No	Details
Glycogenosis, type VII PFKM	IVS16-64A>G	-63	No	Details
Glycosylation deficiency ALG8	IVS1-2A>G	+11	No	Details
GYPHe.NY GYPB	E5+75C>G	+75	Yes	Details
GYPHe.P2 GYPB	E5+75C>G	+95	Yes	Details
Heart malformations INVS	IVS13+2T>C	+49	No	Details
Hemophilia A F8	c.1538-18G>A (IVS10-18G>A)	+36	No	Details
Hemophilia A F8	E16+26G>A	+47	No	Details
Hemophilia A F8	E11+32G>T	+36	No	Details
Hemophilia A F8	IVS15+1G>T	+47	No	Details
Henshaw antigen GPB	E5+65C>G	+65	No	Details
Henshaw antigen GPB	IVS2-6T>G	+60	No	Details
Hepatic lipase deficiency LIPC	IVS1-14A>G	-78	No	Details
Hepatic lipase deficiency LIPC	IVS1-14A>G	-13	No	Details
Hereditary coproporphyria CPO	IVS1-15C>G	-14	No	Details
Hereditary osteodystrophy GNAS1	IVS7-1G>A	+1	No	Details
Hereditary spherocytosis SPTA	IVS30-99C>T	-70	No	Details
Hermansky-Pudlak syndrome HPS3	IVS16-1612G>A	-1625	No	Details
HLA-B*3916 allele HLA-B	E3+17G>C	+19	No	Details
Hyper-parathyroididsm HRPT2	IVS6-1delG	-41	No	Details
Hyper-parathyroididsm HRPT2	IVS6-1delG	+1	No	Details
Hypertrophic cardiomyopathy MYBPC3	IVS14-13G>A	-11	No	Details
Hypofibrinogenemia FGB	E4+155T>A	+116	No	Details
Hypothyroidism TPO	E8+367dupGGCC	+7267	No	Details
Hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT1	IVS9-2A>G	+17	Yes	Details
Hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT1	IVS9-1G>A	+17	Yes	Details
Hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT1	IVS9-2A>T	+17	Yes	Details
Hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT1	IVS9-16G>A	-14	Yes	Details
Hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT1	IVS9-3T>G	-2	Yes	Details
Hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT1	IVS7-1G>A	+21	No	Details
Hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT1	IVS1-2A>G	+5	No	Details
Hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT1	IVS5-1G>A	+1	No	Details
Infantile osteopetrosis TCIRG1	IVS5-8G>A	+11	No	Details
Isovaleric acidemia IVD	IVS7-1G>A	-15	No	Details
Keutel syndrome MGP	IVS1-2A>G	+13	No	Details
Keutel syndrome MGP	IVS1-2A>G	+49	No	Details
Kniest dysplasia COL2A1	IVS21-2A>G	+18	No	Details
Laminopathy LMNA	c.1609-12T>G (IVS9-12T>G)	-11	No	Details
Leukocyte adhesion deficiency ITGB2	IVS6-14C>A	-12	No	Details
Li-Fraumeni syndrome TP53	IVS5-1G>A	+1	No	Details
Li-Fraumeni syndrome TP53	IVS5-11del11	+17	No	Details
Li-Fraumeni syndrome TP53	IVS3-11C>G	-10	No	Details
Li-Fraumeni syndrome TP53	IVS3-1G>A	+19	No	Details
Li-Fraumeni syndrome TP53	IVS9-1G>C	-44	No	Details
Lung cancer TP53	IVS3-1G>C	+19	No	Details
Lysinuric protein intolerance SLC7A7	IVS6-2A>T	+10	No	Details
Malonyl-CoA decarboxylase deficiency MLYCD	IVS4-14A>G	-13	No	Details
Maple syrup urine disease DBT	IVS4-17TTTdelinsAAA	-17	No	Details
Maturity-onset diabetes of the young GCK	IVS5-1G>A	-27	No	Details
Maturity-onset diabetes of the young TCF1(HCF-1A)	IVS7-6G>A	-4	No	Details
Maturity-onset diabetes of the young TCF1(HCF-1A)	IVS4-2A>G	+202	No	Details
Metachromatic leukodystrophy ARSA	E8+22C>T	+27	Yes	Details
Methionine synthase deficiency MTR	IVS3-166A>G	-165	No	Details
Methionine synthase deficiency MTR	IVS6-1670G>A	-1672	No	Details
Mitochondrial acetoacetyl-CoA thiolase deficiency ACAT1	E5+46C>T	+51	No	Details
Mucolipidosis, type III gamma GNPTG	IVS7-10G>A	-8	No	Details
Mucopolysaccharidosis, type I IDUA	IVS2-3C>G	-58	No	Details
Mucopolysaccharidosis, type II ICS	IVS3+1G>C	+44	No	Details
Mucopolysaccharidosis, type II ICS	E3+5C>T	+44	No	Details
Mucopolysaccharidosis, type II ICS	E4+1G>T	+37	No	Details
Mucopolysaccharidosis, type II ICS	IVS3+1G>C	+44	No	Details
Mucopolysaccharidosis, type II ICS	E3+5C>T	+44	No	Details
Mucopolysaccharidosis, type II ICS	E4+1G>T	+37	No	Details
Mucopolysaccharidosis, type II IDS	IVS3+1G>C	+44	No	Details
Mucopolysaccharidosis, type II IDS	E4+1G>T	+37	No	Details
Mucopolysaccharidosis, type II IDS	IVS6-2A>G	+51	No	Details
Mucopolysaccharidosis, type II IDS	IVS3-2A>G	-1	No	Details
Mucopolysaccharidosis, type II IDS	IVS7-1G>C	+12	No	Details
Multiple adenomatosis APC	IVS7-17A>G	-16	No	Details
Multiple developmental abnormalities TGFBR2	IVS1-2A>G	+18	No	Details
Muscle phosphofructokinase deficiency PFKM	IVS6-2A>C	+5	No	Details
Muscle phosphofructokinase deficiency PFKM	IVS6-2A>C	+12	No	Details
Muscular dystrophy DMD	IVS74-2A>G	+1164	No	Details
Muscular dystrophy DMD	IVS59-9T>A	-7	No	Details
Muscular dystrophy DMD	IVS1+36846G>A	+36997	No	Details
Muscular dystrophy DMD	IVS25+2036A>G	+2131	No	Details
Muscular dystrophy DMD	IVS1+36947G>A		No	Details
Muscular dystrophy DMD	IVS11-9A>G	+8	No	Details
Muscular dystrophy DMD	IVS8-15A>G	-14	No	Details
Muscular dystrophy DMD	IVS2+5591T>A	+5638	No	Details
Muscular dystrophy DMD	IVS2+5591T>A	+5724	No	Details
Muscular dystrophy DMD	E42+63T>G	+63	No	Details
Muscular dystrophy DMD	IVS1+36947G>A	-146561	No	Details
Muscular dystrophy DMD	IVS20-2A>G	+7	No	Details
Muscular dystrophy DMD	IVS38-1G>A	-45	No	Details
Muscular dystrophy LAMA2	IVS28-1G>C	+69	No	Details
Myeloperoxidase deficiency MPO	IVS11-2A>C	-109	Yes	Details
Naevoid basal cell carcinoma syndrome PTCH	IVS7-2A>C	+16	No	Details
Naevoid basal cell carcinoma syndrome PTCH	IVS10-6ins21	-15	No	Details
Netherton syndrome SPINK5	IVS20-1G>A	+1	No	Details
Neurofibormatosis with malignant peripheral nerve sheath tumors NF1	IVS40-5A>G	-4	No	Details
Neurofibromatosis, type I NF1	IVS10a-9T>A	-7	No	Details
Neurofibromatosis, type I NF1	IVS11-3C>G	-43	No	Details
Neurofibromatosis, type I NF1	IVS39-279A>G	-278	No	Details
Neurofibromatosis, type I NF1	IVS27b-2A>T	+293	No	Details
Neurofibromatosis, type I NF1	IVS26-2A>T	-14	No	Details
Neurofibromatosis, type I NF1	IVS26-2A>T	-17	No	Details
Neurofibromatosis, type I NF1	IVS15-15A>G	-14	No	Details
Neurofibromatosis, type I NF1	IVS15-12T>G	-11	No	Details
Neurofibromatosis, type I NF1	IVS30-279A>G	+278	No	Details
Neurofibromatosis, type I NF1	IVS31-5A>G	-4	No	Details
Neurofibromatosis, type I NF1	IVS39-12T>A	-10	No	Details
Neurofibromatosis, type I NF1	IVS15-16A>G	-15	No	Details
Neurofibromatosis, type I NF1	IVS15-16A>G	-15	No	Details
Neurofibromatosis, type I NF1	IVS15-15A>G	-14	No	Details
Neurofibromatosis, type I NF1	IVS15-12T>G	-11	No	Details
Ocular albinism, type I GPR143	IVS7-871G>A	-869	No	Details
Oculocutaneous albinism, type II OCA2	IVS5-19A>G	-18	No	Details
Oligoadenylate synthase activity OAS1	IVS6-1G>A	+1	Yes	Details
Oligoadenylate synthase activity OAS1	IVS6-1G>A	+98	Yes	Details
Ornithine transcarbamylase deficiency OTC	IVS4-2A>T	+12	No	Details
Osteogenesis imperfecta COL1A2	IVS27-2A>G	+46	No	Details
Osteopetrosis TCIRG1	IVS5-6C>A	+11	No	Details
Osteopetrosis TCIRG1	E7+42G>A	+42	No	Details
Osteopetrosis TCIRG1	IVS14-1G>A	+183	No	Details
Periodic fever syndrome TNFRSF1A	IVS3-14G>A	-12	No	Details
Peutz-Jeghers syndrome STK11	IVS1-2A>G	-124	No	Details
Peutz-Jeghers syndrome STK11	IVS1-2A>G	-113	No	Details
Phenylketonuria PAH	IVS10-11G>A	-9	No	Details
Phenylketonuria PAH	IVS8-7A>G	-6	No	Details
Phenylketonuria PAH	c.168-2A>G (IVS2-2A>G)	-81	No	Details
Poikilocytic anemia SPTA1	IVS19-13T>G	-12	No	Details
Pseudohypoaldosteronism, type I SCNN1G	IVS2-1G>A	+6	No	Details
Pyruvate dehydrogenase deficiency PDHA1	IVS9-1G>A	-121	No	Details
Pyruvate kinase deficiency PKLR	IVS3-2A>T	+6	No	Details
Pyruvoyl-tetrahydropterin synthase deficiency PTPS	IVS1-3C>G	+12	No	Details
Rabson-Mendenhall's syndrome INSR	IVS4-2A>G	+12	No	Details
Recessive dystrophic epidermolysis bullosa COL7A1	IVS6-5del5	+13	No	Details
Recessive dystrophic epidermolysis bullosa COL7A1	IVS2-3C>G	-70	No	Details
Recessive hereditary spherocytosis EPB42	E11+39G>T	+41	No	Details
Retinitis pigmentosa RPGR	IVS13-8A>G	-7	Yes	Details
Retinitis pigmentosa SAG	IVS10-25A>G	-24	No	Details
Retinoblastoma RB1	IVS22-8T>A	-6	No	Details
Retinoblastoma RB1	IVS7-9C>G	-8	No	Details
Retinoblastoma RB1	IVS18-11A>G	-10	No	Details
Retinoblastoma RB1	IVS12-3A>G	-2	No	Details
Retinoblastoma RB1	g.161984T>A (IVS21-13T>A)	-11	No	Details
Retinoblastoma RB1	g.76875A>G (IVS14-14A>G)	-13	No	Details
Retinoblastoma RB1	g.149986T>G (IVS17-12T>G)	-11	No	Details
Retinoblastoma RB1	g.64328A>G (IVS9-2A>G)	-1	No	Details
Rett syndrome CDKL5	IVS13-1G>A	+1	No	Details
Rett syndrome MECP2	IVS1-6C>G	-5	No	Details
Rhizomelic chondrodysplasia punctata PEX7	IVS3-10A>G	-9	No	Details
Rothmund-Thomson syndrome RECQL4	IVS12-1G>C	+75	No	Details
Sandhoff disease HEXB	IVS12-26G>A	-24	No	Details
Sandhoff disease HEXB	IVS10-17A>G	-37	No	Details
Sandhoff disease HEXB	IVS10-17A>G	+112	No	Details
Sandhoff disease HEXB	E11+8C>T	+112	No	Details
Severe combined immunodeficiency ZAP70	IVS9-11G>A	-9	No	Details
Sjogren-Larsson syndrome (fatty aldehyde dehydrogenase deficiency) FALDH (ALDH3A2)	IVS4-14T>A	-24	No	Details
Sjogren-Larsson syndrome (fatty aldehyde dehydrogenase deficiency) FALDH (ALDH3A2)	IVS3-2A>G	+33	No	Details
Smith-Lemli-Opitz syndrome DHCR7	IVS8-1G>C	-134	Yes	Details
Spastic paraplegia SPG4	IVS6-1G>A	+8	No	Details
Stargardt disease ABCR (ABCA4)	E16+1G>C	+3	No	Details
Stickler syndrome COL2A1	IVS17-2A>G	+16	No	Details
Stickler syndrome COL2A1	IVS23+135G>A	-234	No	Details
Supravalvular aortic stenosis ELN	IVS15-3C>G	-44	No	Details
Syndromic short stature LHX4	IVS4-1G>C	+12	No	Details
Syndromic short stature LHX4	IVS4-1G>C	+17	No	Details
Thiopurine methyltransferase deficiency TPMT	IVS9-1G>A	-330	Yes	Details
Thiopurine methyltransferase deficiency TPMT	IVS9-1G>A	-1	Yes	Details
Townes-Brocks syndrome SALL1	IVS2-19T>A	-17	Yes	Details
Tuberous sclerosis TSC1	c.1030-3C>G	-102	No	Details
Tuberous sclerosis TSC2	IVS9-3C>G	+56	No	Details
Tuberous sclerosis TSC2	IVS38-18A>G	+74	No	Details
Tuberous sclerosis TSC2	IVS9-15G>A	+56	No	Details
Turcot syndrome PMS2	c.989-1G>T (IVS9-1G>T)	+27	No	Details
Ullrich congenital muscular dystrophy COL6A2	IVS17-2A>G	+28	No	Details
Ullrich congenital muscular dystrophy COL6A2	IVS12-10A>G	-247	No	Details
Ullrich congenital muscular dystrophy COL6A2	IVS12-10A>G	-64	No	Details
Usher syndrome, type I CDH23	c.3580-1G>T (IVS29-1G>T)	+51	No	Details
Usher syndrome, type I CDH23	c.6050-9G>A (IVS45-9G>A)	-7	No	Details
Usher syndrome, type ID CDH23	IVS45-9G>A	-7	No	Details
Usher syndrome, type II USH2A	c.2168-1G>C (IVS12-1G>C)	+7	No	Details
Usher syndrome, type II USH2A	c.7595-8C>G (IVS40-8C>G)	-7	No	Details
Variegate porphyria PPOX	IVS7-9T>G	-8	No	Details
von Willebrand disease F8	IVS13-3C>A	-62	No	Details
Werner's syndrome WRN	IVS29-7T>A	-5	No	Details
Wilson disease ATP7B	IVS7-8T>G	-23	No	Details
Wilson disease ATP7B	IVS11-2A>G	-39	No	Details
Xeroderma pigmentosum ERCC3	IVS14-6C>A	-4	Yes	Details
Xeroderma pigmentosum XPA	IVS3-12A>G	-11	No	Details
Xeroderma pigmentosum XPA	IVS3-1G>C	+2	No	Details
X-linked hydrocephalus L1CAM	IVS17-19A>C	-69	No	Details
X-linked hydrocephalus, MASA syndrome, spastic paraplegia L1CAM	IVS26-12G>A	-10	No	Details
X-linked hyper-IgM syndrome TNFSF5(HIGM1)	IVS4-2A>G	+8	No	Details
X-linked mental retardation FACL4	IVS10-2A>G	-28	No	Details
X-linked recessive myotubular myopathy MTM1	IVS12-10A>G	-9	No	Details