Gene	Name	OMIM	Uniprot	Disease	Pathogenic	Benign	IAP, LOO CV
	ABCD1	X-linked adrenoleukodystrophy	300371	P33897	X-linked adrenoleukodystrophy	58	337	0,849
	ACADM	Medium-chain acyl-CoA dehydrogenase deficiency	607008	P11310-1	Medium-chain acyl-CoA dehydrogenase deficiency	63	256	0,792
	ACADVL	Very long-chain acyl-CoA dehydrogenase deficiency	609575	P49748-1	Very long-chain acyl-CoA dehydrogenase deficiency	91	391	0,8
	ASL	Argininosuccinic aciduria	608310	P04424-1	Argininosuccinic aciduria	29	297	0,85
	ASS1	Homocystinuria Citrullinemia, type I	603470	P00966	Homocystinuria Citrullinemia, type I	25	172	0,787
	BTD	Biotinidase deficiency	609019	P43251-1	Biotinidase deficiency	133	322	0,849
	CFTR	Cystic fibrosis	602421	P13569-1	Cystic fibrosis	350	753	0,781
	FAH	Tyrosinemia, type I	613871	P43251-1	Tyrosinemia, type I	15	252	0,843
	GAA	Glycogen Storage Disease Type II (Pompe)	606800	P10253-1	Glycogen Storage Disease Type II (Pompe)	72	406	0,742
	GALT	Classic galactosemia	606999	P07902-1	Classic galactosemia	119	125	0,695
	GCDH	Glutaric acidemia type I	608801	Q92947-1	Glutaric acidemia type I	58	213	0,703
	HADHA	Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency	600890	Q96RQ3	Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency	9	488	0,813
	HADHB	Trifunctional protein deficiency	143450	P50747-1	Trifunctional protein deficiency	14	311	0,961
	HBB	Hemoglobinopathies	141900	P68871	Hemoglobinopathies	149	106	0,912
	HLCS	Holocarboxylase synthase deficiency	609018	P40939-1	Holocarboxylase synthase deficiency	12	480	0,776
	HMGCL	3-Hydroxy-3-methylglutaric aciduria	613898	P35914-1	3-Hydroxy-3-methylglutaric aciduria	6	190	0,74
	IDUA	Mucopolysaccharidosis type 1	252800	P35475-1	Mucopolysaccharidosis type 1	46	575	0,89
	IVD	Isovaleric acidemia	607036	P26440	Isovaleric acidemia	30	332	0,908
	MCCC1	3-Methylcrotonyl-CoA carboxylase deficiency	609010	P16930-1	3-Methylcrotonyl-CoA carboxylase deficiency	16	461	0,764
	MCCC2	3-Methylcrotonyl-CoA carboxylase deficiency	609014	Q9HCC0-1	3-Methylcrotonyl-CoA carboxylase deficiency	25	416	0,814
	MMUT	Methylmalonic acidemia	609058	P22033-1	Methylmalonic acidemia	70	363	0,712
	PAH	Classic phenylketonuria	612349	P00439	Classic phenylketonuria	288	132	0,798
	PCCB	Propionic acidemia β-ketothiolase deficiency	232050	P05166-1	Propionic acidemia β-ketothiolase deficiency	26	494	0,794
	SLC22A5	Carnitine uptake defect/transport defect	603377	O76082-1	Carnitine uptake defect/transport defect	68	328	0,87
	TSHR	Primary congenital hypothyroidism	603372	P16473-1	Primary congenital hypothyroidism	30	519	0,803
	Gene	Name	OMIM	Uniprot	Disease	Pathogenic	Benign	IAP, LOO CV