Bold = ACMG-23 Mutations; Italics = Variants

ΔF508 1717-1G>A W1282X 2307insA
ΔI507 R560T 1078delT Y1092X
G542X R553X 394delTT M1101K
G85E G551D Y122X S1255X*
R117H 1898+1G>A R347H 3876delA
621+1G>T 2184delA V520F 3905insT
711+1G>T 2789+5G>A A559T 5T/7T/9T
N1303K 3120+1G>A S549N F508C
R334W R1162X S549R I507V
R347P 3659delC 1898+5G>T I506V
A455E 3849+10kbC>T 2183AA>G  

* S1255X (ex. 20) and S1255X (ex. 19) are two separate mutations:

  •  S1255X (ex.20) is a nonsense mutation changing the serine amino acid at position 1255 to a stop codon.1
  •  S1255X (ex.19) causes a change in the amino acid at position 1203 from an isoleucine to valine (I1203V).2,3

These two mutations have been described as a haplotype (the two mutations occurring together on the same chromosome). S1255X (ex. 19) alone is of unproven or uncertain clinical relevance as it has yet to be shown to be pathogenic.2

References:

1. Heim, R.A., E.A. Sugarman, and B.A. “Allitto, Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.” Genet Med, 2001. 3(3): p. 168-76.

2. Cutting GR, Curristin SM, Nash E, Rosenstein BJ, Lerer I, Abeliovich D, Hill A, Graham C. (1992) “Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.” Am J Hum Genet Jun;50(6):1185-94.

3. Fredj SH, T Messaoud et al. (2009) “Cystic fibrosis transmembrane conductance regulator mutation spectrum in patients with cystic fibrosis in Tunisia. Genet Test Mol Biomarkers.” Oct;13(5):577-81.

Bold = ACMG-23; Italics = Conditionally reported

M1V (c.1A>G) T338I (c.1013C>T) R553X (c.1657C>T) 3272-26A>G (c.3140-26A>G)
CFTRdele2,3
(c.54-5940_273+10250del21kb)
S341P (c.1021T>C) A559T (c.1675G>A) L1065P (c.3194T>C)
Q39X (c.115C>T) 1154insTC (c.1022_1023insTC) R560T (c.1679G>C) R1066C (c.3196C>T)
E60X (c.178G>T) R347H (c.1040G>A) R560K (c.1679G>A) R1066H (c.3197G>A)
P67L (c.200C>T) R347P (c.1040G>C) 1811+1.6kbA>G (c.1679+1.6kbA>G) L1077P (c.3230T>C)
R75X (c.223C>T) R352Q (c.1055G>A) 1812-1G>A (c.1680-1G>A) W1089X (c.3266G>A)
G85E (c.254G>A) 1213delT (c.1081delT) E585X (c.1753G>T) Y1092X(C>A) (c.3276C>A)
394delTT (c.262_263delTT) 1248+1G>A (c.1116+1G>A) 1898+1G>A (c.1766+1G>A) Y1092X(C>G) (c.3276C>G)
405+1G>A (c.273+1G>A) 1259insA (c.1127_1128insA) 1898+3A>G (c.1766+3A>G) M1101K (c.3302T>A)
406-1G>A (c.274-1G>A) W401X (c.1202G>A) 2143delT (c.2012delT) E1104X (c.3310G>T)
E92X (c.274G>T) W401X (c.1203G>A) 2183AA >G
(c.2051_2052delAAinsG)
R1158X (c.3472C>T)
E92K (c.274G>A) 1341+1G>A (c.1209+1G>A) 2184delA (c.2052delA) R1162X (c.3484C>T)
Q98X (c.292C>T) 1461ins4 (c.1329_1330insAGAT) 2184insA (c.2052_2053insA) 3659delC (c.3528delC)
457TAT>G (c.325_327delTATinsG) A455E (c.1364C>A) R709X (c.2125C>T) S1196X (c.3587C>G)
D110H (c.328G>C) 1525-1G>A (c.1393-1G>A) K710X (c.2128A>T) W1204X (c.3611G>A)
R117C (c.349C>T) S466X (C>A) (c.1397C>A) 2307insA (c.2175_2176insA) W1204X (c.3612G>A)
R117H (c.350G>A) S466X (C>G) (c.1397C>G) L732X (c.2195T>G) 3791delC (c.3659delC)
Y122X (c.366T>A) L467P (c.1400T>C) 2347delG (c.2215delG) 3849+10kbC>T (c.3717+12191C>T)
574delA (c.442delA) 1548delG  (c.1418delG)* R764X (c.2290C>T) G1244E (c.3731G>A)
621+1G>T (c.489+1G>T) S489X (c.1466C>A) 2585delT (c.2453delT) 3876delA (c.3744delA)
663delT (c.531delT) S492F (c.1475C>T) E822X (c.2464G>T) S1251N (c.3752G>A)
G178R (c.532G>A) Q493X (c.1477C>T) 2622+1G>A (c.2490+1G>A) 3905insT (c.3773_3774insT)
711+1G>T (c.579+1G>T) I507del (c.1519_ 1521delATC) E831X (c.2491G>T) W1282X (c.3846G>A)
711+3A>G (c.579+3A>G) F508del (c.1521_ 1523delCTT) W846X (c.2537G>A) 4005+1G>A (c.3873+1G>A)
711+5G>A (c.579+5G>A) 1677delTA (c.1545_ 1546delTA) R851X (c.2551C>T) 4016insT (c.3884_3885insT)
712-1G>T (c.580-1G>T) V520F (c.1558G>T) 2711delT (c.2583delT) N1303K (c.3909C>G)
H199Y (c.595C>T) Q525X (c.1573C>T)* 2789+5G>A (c.2657+5G>A) Q1313X (c.3937C>T)
P205S (c.613C>T) 1717-8G>A (c.1585-8G>A) Q890X (c.2668C>T) 4209TGTT>AA
(c.4077_4080delTGTTinsAA)
L206W (c.617T>G) 1717-1G>A (c.1585-1G>A) L927P (c.2780T>C) CFTRdele22,23
(c.3964-78_ 4242+577del)
Q220X (c.658C>T) G542X (c.1624G>T) S945L (c.2834C>T) 4382delA (c.4251delA)
852del22 (c.720_741delAGG GAGAATGATGATGAAGTAC) S549R (c.1645A>C) 3007delG (c.2875delG) PolyTG/PolyT
1078delT (c.948delT) S549N (c.1646G>A) G970R (c.2908G>C) I506V (c.1516A>G)
G330X (c.988G>T) S549R (c.1647T>G) 3120G>A (c.2988G>A) I507V (c.1519A>G)
R334W (c.1000C>T) G551D (c.1652G>A) 3120+1G>A (c.2988+1G>A) F508C (c.1523T>G)
I336K (c.1007T>A) Q552X (c.1654C>T) 3121-1G>A (c.2989-1G>A)

 

* Classified in the CFTR2 database1 as a CF-causing variant, while the Sosnay paper2 classifies the variant as indeterminate. The database classification is more current and reflects the completed functional testing, which was not available at the time of the Sosnay publication.

References:

1. The Clinical and Functional Translation of CFTR (CFTR2) Project. Available at www.nacfconference.org/art/plenaryarchives/2011.Cutting.pdf. [Online] Presented by Garry Cutting on behalf of the CFTR2 Project at the 25th Annual North American Cystic Fibrosis Conference (NACFC) sponsored by the Cystic Fibrosis Foundation. November 04, 2011. Anaheim, CA.

2. Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, et al. (2013) Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nature Genetics 45 (10): 1160-1167.

 

 

3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (PHGDH) GALACTOSEMIA (GALT)
ABETALIPOPROTEINEMIA (MTTP) GAUCHER DISEASE (GBA)
ALPORT SYNDROME, COL4A3-RELATED (COL4A3) GLYCOGEN STORAGE DISEASE, TYPE IA (G6PC)
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (SLC35A3) JOUBERT SYNDROME 2 (TMEM216)
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE (PKHD1) MAPLE SYRUP URINE DISEASE, TYPE 1B (BCKDHB)
BARDET-BIEDL SYNDROME, BBS2-RELATED (BBS2) MUCOLIPIDOSIS, TYPE IV (MCOLN1)
BLOOM SYNDROME (BLM) MULTIPLE SULFATASE DEFICIENCY (SUMF1)
CANAVAN DISEASE (ASPA) NEMALINE MYOPATHY 2 (NEB)
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY (CPT2) NIEMANN-PICK DISEASE, TYPE A / B (SMPD1)
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA (MPL) RETINITIS PIGMENTOSA 59 (DHDDS)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA (PMM2) SMITH-LEMLI-OPITZ SYNDROME (DHCR7)
CYSTIC FIBROSIS (CFTR) SPINAL MUSCULAR ATROPHY (SMN1)
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (DLD) TAY-SACHS DISEASE (HEXA)
DUCHENNE / BECKER MUSCULAR DYSTROPHY, X-LINKED (DMD) TYROSINEMIA, TYPE I (FAH)
DYSKERATOSIS CONGENITA, RTEL1-RELATED (RTEL1) USHER SYNDROME, TYPE IF (PCDH15)
EHLERS-DANLOS SYNDROME, TYPE VIIC (ADAMTS2) USHER SYNDROME, TYPE III (CLRN1)
FAMILIAL DYSAUTONOMIA (ELP1) WALKER-WARBURG SYNDROME, FKTN-RELATED (FKTN)
FAMILIAL HYPERINSULINISM, ABCC8-RELATED (ABCC8) WILSON DISEASE (ATP7B)
FANCONI ANEMIA, TYPE C (FANCC) ZELLWEGER SPECTRUM DISORDERS, PEX2-RELATED (PEX2)
FRAGILE X SYNDROME (FMR1)  
3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (PHGDH) GAUCHER DISEASE (GBA)
ABETALIPOPROTEINEMIA (MTTP) GLYCOGEN STORAGE DISEASE, TYPE IA (G6PC)
ALPORT SYNDROME, COL4A3-RELATED (COL4A3) JOUBERT SYNDROME 2 (TMEM216)
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (SLC35A3) MAPLE SYRUP URINE DISEASE, TYPE 1B (BCKDHB)
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE (PKHD1) MUCOLIPIDOSIS, TYPE IV (MCOLN1)
BARDET-BIEDL SYNDROME, BBS2-RELATED (BBS2) MULTIPLE SULFATASE DEFICIENCY (SUMF1)
BLOOM SYNDROME (BLM) NEMALINE MYOPATHY 2 (NEB)
CANAVAN DISEASE (ASPA) NIEMANN-PICK DISEASE, TYPE A / B (SMPD1)
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY (CPT2) RETINITIS PIGMENTOSA 59 (DHDDS)
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA (MPL) SMITH-LEMLI-OPITZ SYNDROME (DHCR7)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA (PMM2) SPINAL MUSCULAR ATROPHY (SMN1)
CYSTIC FIBROSIS (CFTR) TAY-SACHS DISEASE (HEXA)
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (DLD) TYROSINEMIA, TYPE I (FAH)
DYSKERATOSIS CONGENITA, RTEL1-RELATED (RTEL1) USHER SYNDROME, TYPE IF (PCDH15)
EHLERS-DANLOS SYNDROME, TYPE VIIC (ADAMTS2) USHER SYNDROME, TYPE III (CLRN1)
FAMILIAL DYSAUTONOMIA (ELP1) WALKER-WARBURG SYNDROME, FKTN-RELATED (FKTN)
FAMILIAL HYPERINSULINISM, ABCC8-RELATED (ABCC8) WILSON DISEASE (ATP7B)
FANCONI ANEMIA, TYPE C (FANCC) ZELLWEGER SPECTRUM DISORDERS, PEX2-RELATED (PEX2)
GALACTOSEMIA (GALT)  
CYSTIC FIBROSIS (CFTR) 139
SPINAL MUSCULAR ATROPHY (SMN1)
CYSTIC FIBROSIS (CFTR) 139 SPINAL MUSCULAR ATROPHY (SMN1)
FRAGILE X SYNDROME (FMR1)  
ALPHA-THALASSEMIA (HBA1/HBA2) GLYCOGEN STORAGE DISEASE, TYPE IA (G6PC)
BETA HEMOGLOBINOPATHIES (HBB) JOUBERT SYNDROME 2 (TMEM216)
BLOOM SYNDROME (BLM) MAPLE SYRUP URINE DISEASE, TYPE 1A (BCKDHA)
CANAVAN DISEASE (ASPA) MAPLE SYRUP URINE DISEASE, TYPE 1B (BCKDHB)
CYSTIC FIBROSIS (CFTR) MAPLE SYRUP URINE DISEASE, TYPE 2 (DBT)
DUCHENNE / BECKER MUSCULAR DYSTROPHY, X-LINKED (DMD) MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (ACADM)
FAMILIAL DYSAUTONOMIA (ELP1) MUCOLIPIDOSIS, TYPE IV (MCOLN1)
FAMILIAL HYPERINSULINISM, ABCC8-RELATED (ABCC8) NIEMANN-PICK DISEASE, TYPE A / B (SMPD1)
FANCONI ANEMIA, TYPE C (FANCC) PHENYLALANINE HYDROXYLASE DEFICIENCY (PAH)
FRAGILE X SYNDROME (FMR1) SMITH-LEMLI-OPITZ SYNDROME (DHCR7)
GALACTOSEMIA (GALT) SPINAL MUSCULAR ATROPHY (SMN1)
GAUCHER DISEASE (GBA) TAY-SACHS DISEASE (HEXA)
ALPHA-THALASSEMIA (HBA1/HBA2) JOUBERT SYNDROME 2 (TMEM216)
BETA HEMOGLOBINOPATHIES (HBB) MAPLE SYRUP URINE DISEASE, TYPE 1A (BCKDHA)
BLOOM SYNDROME (BLM) MAPLE SYRUP URINE DISEASE, TYPE 1B (BCKDHB)
CANAVAN DISEASE (ASPA) MAPLE SYRUP URINE DISEASE, TYPE 2 (DBT)
CYSTIC FIBROSIS (CFTR) MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (ACADM)
FAMILIAL DYSAUTONOMIA (ELP1) MUCOLIPIDOSIS, TYPE IV (MCOLN1)
FAMILIAL HYPERINSULINISM, ABCC8-RELATED (ABCC8) NIEMANN-PICK DISEASE, TYPE A / B (SMPD1)
FANCONI ANEMIA, TYPE C (FANCC) PHENYLALANINE HYDROXYLASE DEFICIENCY (PAH)
GALACTOSEMIA (GALT) SMITH-LEMLI-OPITZ SYNDROME (DHCR7)
GAUCHER DISEASE (GBA) SPINAL MUSCULAR ATROPHY (SMN1)
GLYCOGEN STORAGE DISEASE, TYPE IA (G6PC) TAY-SACHS DISEASE (HEXA)
3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY (HMGCL) JUNCTIONAL EPIDERMOLYSIS BULLOSA, LAMC2-RELATED (LAMC2)
3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (PHGDH) JUVENILE NEPHRONOPHTHISIS (NPHP1)
6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE (PTPS) DEFICIENCY (PTS) KRABBE DISEASE (GALC)
ABETALIPOPROTEINEMIA (MTTP) LAMELLAR ICHTHYOSIS, TYPE I (TGM1)
ADENOSINE DEAMINASE DEFICIENCY (ADA) LEIGH SYNDROME, FRENCH-CANADIAN (LRPPRC)
ADRENOLEUKODYSTROPHY, X-LINKED (ABCD1) LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (EIF2B5)
AGAMMAGLOBULINEMIA, X-LINKED (BTK) LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A (CAPN3)
ALPHA-1 ANTITRYPSIN DEFICIENCY (SERPINA1) LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2C (SGCG)
ALPHA-MANNOSIDOSIS (MAN2B1) LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2D (SGCA)
ALPHA-THALASSEMIA (HBA1/HBA2) LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2E (SGCB)
ALPORT SYNDROME, COL4A3-RELATED (COL4A3) LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY (HADHA)
ANDERMANN SYNDROME (HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH AGENESIS OF THE CORPUS CALLOSUM) (SLC12A6) LOWE SYNDROME, X-LINKED (OCRL)
ANGELMAN SYNDROME (UBE3A) LYSINURIC PROTEIN INTOLERANCE (SLC7A7)
ARGININOSUCCINATE ACIDURIA (ASL) MAPLE SYRUP URINE DISEASE, TYPE 1A (BCKDHA)
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (SLC35A3) MAPLE SYRUP URINE DISEASE, TYPE 1B (BCKDHB)
ASPARTYLGLYCOSAMINURIA (AGA) MAPLE SYRUP URINE DISEASE, TYPE 2 (DBT)
ATAXIA WITH VITAMIN E DEFICIENCY (TTPA) MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (ACADM)
ATAXIA-TELANGIECTASIA (ATM) MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS (MLC1)
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE (PKHD1) METACHROMATIC LEUKODYSTROPHY, ARSA-RELATED (ARSA)
BARDET-BIEDL SYNDROME, BBS10-RELATED (BBS10) METHYLMALONIC ACIDURIA, TYPE CBLC (MMACHC)
BARDET-BIEDL SYNDROME, BBS1-RELATED (BBS1) MUCOLIPIDOSIS, TYPE II / III ALPHA / BETA (GNPTAB)
BARDET-BIEDL SYNDROME, BBS2-RELATED (BBS2) MUCOLIPIDOSIS, TYPE IV (MCOLN1)
BETA HEMOGLOBINOPATHIES (HBB) MUCOPOLYSACCHARIDOSIS, TYPE I (HURLER SYNDROME) (IDUA)
BIOTINIDASE DEFICIENCY (BTD) MUCOPOLYSACCHARIDOSIS, TYPE IIIA (SANFILIPPO A) (SGSH)
BLOOM SYNDROME (BLM) MULTIPLE SULFATASE DEFICIENCY (SUMF1)
CANAVAN DISEASE (ASPA) MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED (POMGNT1)
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (SLC22A5) NEMALINE MYOPATHY 2 (NEB)
CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (CPT1A) NEPHROTIC SYNDROME, TYPE 1 (NPHS1)
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY (CPT2) NEURONAL CEROID LIPOFUSCINOSIS, CLN3-RELATED (CLN3)
CARTILAGE-HAIR HYPOPLASIA (RMRP) NEURONAL CEROID LIPOFUSCINOSIS, CLN5-RELATED (CLN5)
CEREBROTENDINOUS XANTHOMATOSIS (CYP27A1) NEURONAL CEROID LIPOFUSCINOSIS, CLN6-RELATED (CLN6)
CHRONIC GRANULOMATOUS, X-LINKED (CYBB) NEURONAL CEROID LIPOFUSCINOSIS, CLN8-RELATED (CLN8)
CITRIN DEFICIENCY (SLC25A13) NEURONAL CEROID LIPOFUSCINOSIS, PPT1-RELATED (PPT1)
CITRULLINEMIA, TYPE I (ASS1) NEURONAL CEROID LIPOFUSCINOSIS, TPP1-RELATED (TPP1)
CONGENITAL ADRENAL HYPERPLASIA, 21-HYDROXYLASE DEFICIENCY (CYP21A2) NIEMANN-PICK DISEASE, TYPE A / B (SMPD1)
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA (MPL) NIEMANN-PICK DISEASE, TYPE CI / D (NPC1)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA (PMM2) NIJMEGEN BREAKAGE SYNDROME (NBN)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB (MPI) NONSYNDROMIC HEARING LOSS, GJB2-RELATED (GJB2)
CONGENITAL MYASTHENIC SYNDROME, CHAT-RELATED (CHAT) OMENN SYNDROME (DCLRE1C)
CONGENITAL MYASTHENIC SYNDROME, CHRNE-RELATED (CHRNE) ORNITHINE TRANSCARBAMYLASE DEFICIENCY, X-LINKED (OTC)
CONGENITAL MYASTHENIC SYNDROME, DOK7-RELATED (DOK7) ORNITHINE TRANSLOCASE DEFICIENCY (SLC25A15)
CONGENITAL MYASTHENIC SYNDROME, RAPSN-RELATED (RAPSN) PENDRED SYNDROME (SLC26A4)
CRIGLER-NAJJAR SYNDROME (UGT1A1) PHENYLALANINE HYDROXYLASE DEFICIENCY (PAH)
CYSTIC FIBROSIS (CFTR) POLG-RELATED DISORDERS (POLG)
CYSTINOSIS (CTNS) PRIMARY CONGENITAL GLAUCOMA (CYP1B1)
D-BIFUNCTIONAL PROTEIN DEFICIENCY (HSD17B4) PRIMARY HYPEROXALURIA, TYPE I (AGXT)
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (DLD) PRIMARY HYPEROXALURIA, TYPE II (GRHPR)
DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DPYD) PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY (PROP1)
DUCHENNE / BECKER MUSCULAR DYSTROPHY, X-LINKED (DMD) PROPIONIC ACIDEMIA, PCCA-RELATED (PCCA)
DYSKERATOSIS CONGENITA, RTEL1-RELATED (RTEL1) PROPIONIC ACIDEMIA, PCCB-RELATED (PCCB)
EHLERS-DANLOS SYNDROME, TYPE VIIC (ADAMTS2) PYCNODYSOSTOSIS (CTSK)
ETHYLMALONIC ENCEPHALOPATHY (ETHE1) PYRUVATE CARBOXYLASE DEFICIENCY (PC)
FAMILIAL DYSAUTONOMIA (ELP1) RETINITIS PIGMENTOSA 59 (DHDDS)
FAMILIAL HYPERINSULINISM, ABCC8-RELATED (ABCC8) RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE I (PEX7)
FANCONI ANEMIA, TYPE C (FANCC) SALLA DISEASE (SLC17A5)
FRAGILE X SYNDROME (FMR1) SANDHOFF DISEASE (HEXB)
FUMARASE DEFICIENCY (FH) SEVERE COMBINED IMMUNODEFICIENCY, IL2RG-RELATED, X-LINKED (IL2RG)
GALACTOSEMIA (GALT) SJOGREN-LARSSON SYNDROME (ALDH3A2)
GAUCHER DISEASE (GBA) SLC26A2-RELATED SKELETAL DYSPLASIAS (SLC26A2)
GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY, X-LINKED (G6PD) SMITH-LEMLI-OPITZ SYNDROME (DHCR7)
GLUTARIC ACIDEMIA, TYPE I (GCDH) SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY (ARSACS) (SACS)
GLYCINE ENCEPHALOPATHY, AMT-RELATED (AMT) SPINAL MUSCULAR ATROPHY (SMN1)
GLYCINE ENCEPHALOPATHY, GLDC-RELATED (GLDC) STEROID RESISTANT NEPHROTIC SYNDROME (NPHS2)
GLYCOGEN STORAGE DISEASE, TYPE IA (G6PC) TAY-SACHS DISEASE (HEXA)
GLYCOGEN STORAGE DISEASE, TYPE IB (SLC37A4) TYROSINE HYDROXYLASE DEFICIENCY (TH)
GLYCOGEN STORAGE DISEASE, TYPE II (GAA) TYROSINEMIA, TYPE I (FAH)
GLYCOGEN STORAGE DISEASE, TYPE III (AGL) USHER SYNDROME, TYPE IB (MYO7A)
GM1 GANGLIOSIDOSIS (GLB1) USHER SYNDROME, TYPE IC (USH1C)
GRACILE SYNDROME (BCS1L) USHER SYNDROME, TYPE ID (CDH23)
HEREDITARY FRUCTOSE INTOLERANCE (ALDOB) USHER SYNDROME, TYPE IF (PCDH15)
HERMANSKY-PUDLAK SYNDROME, HPS3-RELATED (HPS3) USHER SYNDROME, TYPE IIA (USH2A)
HOMOCYSTINURIA, CBS-RELATED (CBS) USHER SYNDROME, TYPE III (CLRN1)
HYPOPHOSPHATASIA (ALPL) VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (ACADVL)
INCLUSION BODY MYOPATHY 2 (GNE) WALKER-WARBURG SYNDROME, FKTN-RELATED (FKTN)
INFANTILE NEUROAXONAL DYSTROPHY 1 (PLA2G6) WILSON DISEASE (ATP7B)
ISOVALERIC ACIDEMIA (IVD) WISKOTT-ALDRICH SYNDROME, X-LINKED (WAS)
JOUBERT SYNDROME 2 (TMEM216) ZELLWEGER SPECTRUM DISORDERS, PEX1-RELATED (PEX1)
JUNCTIONAL EPIDERMOLYSIS BULLOSA, LAMA3-RELATED (LAMA3) ZELLWEGER SPECTRUM DISORDERS, PEX2-RELATED (PEX2)
JUNCTIONAL EPIDERMOLYSIS BULLOSA, LAMB3-RELATED (LAMB3)  
3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY (HMGCL) KRABBE DISEASE (GALC)
3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (PHGDH) LAMELLAR ICHTHYOSIS, TYPE I (TGM1)
6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE (PTPS) DEFICIENCY (PTS) LEIGH SYNDROME, FRENCH-CANADIAN (LRPPRC)
ABETALIPOPROTEINEMIA (MTTP) LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (EIF2B5)
ADENOSINE DEAMINASE DEFICIENCY (ADA) LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A (CAPN3)
ALPHA-1 ANTITRYPSIN DEFICIENCY (SERPINA1) LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2C (SGCG)
ALPHA-MANNOSIDOSIS (MAN2B1) LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2D (SGCA)
ALPHA-THALASSEMIA (HBA1/HBA2) LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2E (SGCB)
ALPORT SYNDROME, COL4A3-RELATED (COL4A3) LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY (HADHA)
ANDERMANN SYNDROME (HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH AGENESIS OF THE CORPUS CALLOSUM) (SLC12A6) LYSINURIC PROTEIN INTOLERANCE (SLC7A7)
ARGININOSUCCINATE ACIDURIA (ASL) MAPLE SYRUP URINE DISEASE, TYPE 1A (BCKDHA)
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (SLC35A3) MAPLE SYRUP URINE DISEASE, TYPE 1B (BCKDHB)
ASPARTYLGLYCOSAMINURIA (AGA) MAPLE SYRUP URINE DISEASE, TYPE 2 (DBT)
ATAXIA WITH VITAMIN E DEFICIENCY (TTPA) MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (ACADM)
ATAXIA-TELANGIECTASIA (ATM) MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS (MLC1)
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE (PKHD1) METACHROMATIC LEUKODYSTROPHY, ARSA-RELATED (ARSA)
BARDET-BIEDL SYNDROME, BBS10-RELATED (BBS10) METHYLMALONIC ACIDURIA, TYPE CBLC (MMACHC)
BARDET-BIEDL SYNDROME, BBS1-RELATED (BBS1) MUCOLIPIDOSIS, TYPE II / III ALPHA / BETA (GNPTAB)
BARDET-BIEDL SYNDROME, BBS2-RELATED (BBS2) MUCOLIPIDOSIS, TYPE IV (MCOLN1)
BETA HEMOGLOBINOPATHIES (HBB) MUCOPOLYSACCHARIDOSIS, TYPE I (HURLER SYNDROME) (IDUA)
BIOTINIDASE DEFICIENCY (BTD) MUCOPOLYSACCHARIDOSIS, TYPE IIIA (SANFILIPPO A) (SGSH)
BLOOM SYNDROME (BLM) MULTIPLE SULFATASE DEFICIENCY (SUMF1)
CANAVAN DISEASE (ASPA) MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED (POMGNT1)
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (SLC22A5) NEMALINE MYOPATHY 2 (NEB)
CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (CPT1A) NEPHROTIC SYNDROME, TYPE 1 (NPHS1)
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY (CPT2) NEURONAL CEROID LIPOFUSCINOSIS, CLN3-RELATED (CLN3)
CARTILAGE-HAIR HYPOPLASIA (RMRP) NEURONAL CEROID LIPOFUSCINOSIS, CLN5-RELATED (CLN5)
CEREBROTENDINOUS XANTHOMATOSIS (CYP27A1) NEURONAL CEROID LIPOFUSCINOSIS, CLN6-RELATED (CLN6)
CITRIN DEFICIENCY (SLC25A13) NEURONAL CEROID LIPOFUSCINOSIS, CLN8-RELATED (CLN8)
CITRULLINEMIA, TYPE I (ASS1) NEURONAL CEROID LIPOFUSCINOSIS, PPT1-RELATED (PPT1)
CONGENITAL ADRENAL HYPERPLASIA, 21-HYDROXYLASE DEFICIENCY (CYP21A2) NEURONAL CEROID LIPOFUSCINOSIS, TPP1-RELATED (TPP1)
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA (MPL) NIEMANN-PICK DISEASE, TYPE A / B (SMPD1)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA (PMM2) NIEMANN-PICK DISEASE, TYPE CI / D (NPC1)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB (MPI) NIJMEGEN BREAKAGE SYNDROME (NBN)
CONGENITAL MYASTHENIC SYNDROME, CHAT-RELATED (CHAT) NONSYNDROMIC HEARING LOSS, GJB2-RELATED (GJB2)
CONGENITAL MYASTHENIC SYNDROME, CHRNE-RELATED (CHRNE) OMENN SYNDROME (DCLRE1C)
CONGENITAL MYASTHENIC SYNDROME, DOK7-RELATED (DOK7) ORNITHINE TRANSLOCASE DEFICIENCY (SLC25A15)
CONGENITAL MYASTHENIC SYNDROME, RAPSN-RELATED (RAPSN) PENDRED SYNDROME (SLC26A4)
CRIGLER-NAJJAR SYNDROME (UGT1A1) PHENYLALANINE HYDROXYLASE DEFICIENCY (PAH)
CYSTIC FIBROSIS (CFTR) POLG-RELATED DISORDERS (POLG)
CYSTINOSIS (CTNS) PRIMARY CONGENITAL GLAUCOMA (CYP1B1)
D-BIFUNCTIONAL PROTEIN DEFICIENCY (HSD17B4) PRIMARY HYPEROXALURIA, TYPE I (AGXT)
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (DLD) PRIMARY HYPEROXALURIA, TYPE II (GRHPR)
DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DPYD) PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY (PROP1)
DYSKERATOSIS CONGENITA, RTEL1-RELATED (RTEL1) PROPIONIC ACIDEMIA, PCCA-RELATED (PCCA)
EHLERS-DANLOS SYNDROME, TYPE VIIC (ADAMTS2) PROPIONIC ACIDEMIA, PCCB-RELATED (PCCB)
ETHYLMALONIC ENCEPHALOPATHY (ETHE1) PYCNODYSOSTOSIS (CTSK)
FAMILIAL DYSAUTONOMIA (ELP1) PYRUVATE CARBOXYLASE DEFICIENCY (PC)
FAMILIAL HYPERINSULINISM, ABCC8-RELATED (ABCC8) RETINITIS PIGMENTOSA 59 (DHDDS)
FANCONI ANEMIA, TYPE C (FANCC) RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE I (PEX7)
FUMARASE DEFICIENCY (FH) SALLA DISEASE (SLC17A5)
GALACTOSEMIA (GALT) SANDHOFF DISEASE (HEXB)
GAUCHER DISEASE (GBA) SJOGREN-LARSSON SYNDROME (ALDH3A2)
GLUTARIC ACIDEMIA, TYPE I (GCDH) SLC26A2-RELATED SKELETAL DYSPLASIAS (SLC26A2)
GLYCINE ENCEPHALOPATHY, AMT-RELATED (AMT) SMITH-LEMLI-OPITZ SYNDROME (DHCR7)
GLYCINE ENCEPHALOPATHY, GLDC-RELATED (GLDC) SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY (ARSACS) (SACS)
GLYCOGEN STORAGE DISEASE, TYPE IA (G6PC) SPINAL MUSCULAR ATROPHY (SMN1)
GLYCOGEN STORAGE DISEASE, TYPE IB (SLC37A4) STEROID RESISTANT NEPHROTIC SYNDROME (NPHS2)
GLYCOGEN STORAGE DISEASE, TYPE II (GAA) TAY-SACHS DISEASE (HEXA)
GLYCOGEN STORAGE DISEASE, TYPE III (AGL) TYROSINE HYDROXYLASE DEFICIENCY (TH)
GM1 GANGLIOSIDOSIS (GLB1) TYROSINEMIA, TYPE I (FAH)
GRACILE SYNDROME (BCS1L) USHER SYNDROME, TYPE IB (MYO7A)
HEREDITARY FRUCTOSE INTOLERANCE (ALDOB) USHER SYNDROME, TYPE IC (USH1C)
HERMANSKY-PUDLAK SYNDROME, HPS3-RELATED (HPS3) USHER SYNDROME, TYPE ID (CDH23)
HOMOCYSTINURIA, CBS-RELATED (CBS) USHER SYNDROME, TYPE IF (PCDH15)
HYPOPHOSPHATASIA (ALPL) USHER SYNDROME, TYPE IIA (USH2A)
INCLUSION BODY MYOPATHY 2 (GNE) USHER SYNDROME, TYPE III (CLRN1)
INFANTILE NEUROAXONAL DYSTROPHY 1 (PLA2G6) VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (ACADVL)
ISOVALERIC ACIDEMIA (IVD) WALKER-WARBURG SYNDROME, FKTN-RELATED (FKTN)
JOUBERT SYNDROME 2 (TMEM216) WILSON DISEASE (ATP7B)
JUNCTIONAL EPIDERMOLYSIS BULLOSA, LAMA3-RELATED (LAMA3) WISKOTT-ALDRICH SYNDROME, X-LINKED (WAS)
JUNCTIONAL EPIDERMOLYSIS BULLOSA, LAMB3-RELATED (LAMB3) ZELLWEGER SPECTRUM DISORDERS, PEX1-RELATED (PEX1)
JUNCTIONAL EPIDERMOLYSIS BULLOSA, LAMC2-RELATED (LAMC2) ZELLWEGER SPECTRUM DISORDERS, PEX2-RELATED (PEX2)
JUVENILE NEPHRONOPHTHISIS (NPHP1)