Diseases & Mutations
The human genome is massive, including 3 billion nucleotide base pairs, and approximately 20,000 genes. Most of these genes contain instructions for producing proteins that determine how our bodies function.
Genetic disease occurs when there is a permanent alteration in the DNA sequence that makes up a gene. Simply put, mutations in genes can cause a variety of disorders. There are many different types of mutations that can cause disease.
View the list below with genetic conditions we've seen or researched at the Clinic.
Hyperinsulinemic hypoglycemia of infancy
ABCC8 c.2995 C>T — Amish
Sitosterolemia
ABCG8 c.1720G>A — Amish
ABCG8 c.120C>A — Amish
ABCG8 c. 320C>G — Amish
Medium-chain acyl-CoA dehydrogenase deficiency
ACADM c.1084A>G — Mennonite and Amish
ACADM c.386-30A>G — Mennonite
ACADM c.199T>C - Amish
Very long-chain acyl-CoA dehydrogenase deficiency
ACADVL c.848T>C — Amish
Severe combined immunodeficiency due to adenosine deaminase deficiency
ADA c.424C>T
Adenosine deaminase deficiency
ADA c.646G>A — Amish
Weil-Marchesani syndrome
ADAMTS10 c.1-2349_1797+1085del — Amish
Microcornea with myopic chorioretinal atrophy and telecanthus
ADAMTS18 c.2397C>G — Amish
Aicardi-Goutieres syndrome 6
ADAR c.577C>G — Mennonite
ADAR c.296dupT — Mennonite
ADAR c.3019G>A
Reticular dysgenesis
AK2 c.622T>C — Amish
Hereditary fructose intolerance
ALDOB c.448G>C — Mennonite
Hypophosphatasia, infantile
ALPL c.1001G>A
ALPL c.571G>A
Vitamin B12 deficiency
AMN c.689_733delinsGG — Mennonite
Megaloblastic anemia 1, Norwegian type
AMN c.689delT
Glycine encephalopathy
AMT c.230C>T
Non-syndromic mental retardation
ANAPC7 c.511-2480_919+3276del — Amish
Familial hypobetalipoproteinemia-2
ANGPTL3 c.361_365delAACTC — Mennonite
Hypotrichosis 1
APCDD1 c.412C>T
Torkelson syndrome
APOA4 c.552_749dup — Mennonite
Familial hypercholesterolemia
APOB c.10580G>A — Amish
Androgen insensitivity syndrome
AR c.2599G>A — Amish
Ataxia-telangiectasia
ATM c.1564_1565delGA
ATM c.5932G>T
ATM c.6200C>A
Wilson disease
ATP7B c.3207C>A
Byler disease
ATP8B1 c.923G>T — Amish
Spastic paraplegia 26, autosomal recessive
B4GALNT1 c.1514G>A
Familial hypercholanemia
BAAT c.226A>G — Amish
Bardet-Biedl syndrome
BBS1 c.1169T>G — Amish
Bardet-Biedl syndrome 2
BBS2 c.472-2A>G
Maple syrup urine disease
BCKDHA c.1312T>A — Mennonite
Lethal neonatal rigidity and multifocal epilepsy
BRAT1 c.638dupA — Amish
Susceptibility to familial breast and ovarian cancer
BRCA2 c.5073dupA — Amish
Biotinidase deficiency
BTD c.1330G>C — Amish and Mennonite
BTD c.1368A>C — Mennonite
BTD c.1459T>C — Mennonite
BTD c.380C>T
BTD c.629A>G
Episodic ataxia, type 2, and hemiplegic migraine
CACNA1A c.3043G>A — Amish
Aland Island eye disease
CACNA1F c.3166dupC
Idiopathic generalized epilepsy
CACNA1G c.6806_6807delCT — Amish
Limb-girdle muscular dystrophy, type 2A
CAPN3 c.2306G>A — Amish
Trichohepatoneurodevelopmental syndrome
CCDC47 c.1145delT — Amish
Primary microcephaly 6
CENPJ c.40C>T — Amish
CENPJ c.1078-2A>T — Amish
CENPJ c.3982A>T — Amish
Properdin deficiency
CFP c.379T>G — Mennonite
Cystic fibrosis
CFTR c.1521_1523delCTT — Mennonites and Amish
CFTR c.1210-34T>G — Amish
CFTR c.1364C>A
CFTR c.3302T>A
CFTR c.3773dup
CFTR c.3909C>G
Multiple pterygium syndrome, Escobar variant
CHRNG c.459_460dupA — Amish
Spondyloepiphyseal dysplasia and humerospinal dysostosis
CHST3 c.1298C>T — Amish
Bartter syndrome
CLCNKB c.0 — Amish
Neuronal ceroid lipofuscinosis 6
CLN6 c.358_366delTTCATCATG — Amish
Achromotopsia 2
CNGA3 c.1126G>A — Mennonite
Achromotopsia 3
CNGB3 c.1148delC — Mennonite
Cortical dysplasia and focal epilepsy
CNTNAP2 c.3709delG — Amish
CNTNAP2 c.403-4604_550+32804delinsGTACAA — Mennonite
Knobloch syndrome
COL18A1 c.4054_4055delCT — Amish
Osteogenesis imperfecta
COL1A2 c.2098G>T — Amish
Stickler syndrome, type I
COL2A1 c.1277G>A — Mennonite
Mental retardation-34 with variant lissencephaly
CRADD c.382G>C — Mennonite
Cystinosis
CTNS c.1015G>A
Chronic granulomatous disease
CYBB c.1222G>A — Amish
CYBB c.1335C>A — Amish
11-beta-hydroxylase deficiency
CYP11B1 c.1343G>A — Amish
Aldosterone deficiency
CYP11B2 c.104_109delinsG — Amish
Glaucoma 3A, primary open angle, congenital, A
CYP1B1 c.1063_1075delGAGTGCAGGCAGA
CYP1B1 c.1159G>A
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
CYP21A2 c.518T>A — Amish
Infantile hypercalcemia
CYP24A1 c.428_430delAAG — Amish
Spastic paraplegia 56
CYP2U1 c.1206_1207delAG — Mennonite
Familial focal epilepsy with variable foci
DEPDC5 c.1453C>T — Mennonite
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
DGUOK c.763G>T
Myotonic dystrophy-1
DMPK (CTG)n repeat expansion — Amish
Ciliary dyskinesia, primary, 18
DNAAF5 c.2374C>T — Mennonite
Ciliary dyskinesia, primary, 3
DNAH5 c.10815delT
Primary ciliary dyskinesia
DNAH5 c.4348C>T — Amish
Ciliary dyskinesia, primary, 1
DNAI1 c.48+2dup
Dilated cardiomyopathy with arrhythmia
DSP c.699G>A — Amish
Thyroid dyshormonogenesis 5
DUOXA2 c.829_830delTG — Amish
Hirschsprung disease
EDNRB c.828G>T — Mennonite
Inflammatory skin and bowel disease, neonatal, 2
EGFR c.560-2_565delAGGCCAAA — Mennonite
Intellectual disability
ELP2 c.1580G>A — Amish
Hereditary hemorrhagic telangiectasia, type 1
ENG c.1241T>A — Amish
Cockayne syndrome
ERCC6 c.1293_1320del
ERCC6 c.2096dupC
ERCC6 c.2709+1G>T — Amish
Ellis-van Creveld syndrome
EVC c.1886+5G>T — Amish
Multiple exostoses, type 1
EXT1 c.1818G>A — Amish
Seizures-scoliosis-macrocephaly syndrome
EXT2 c.283C>T
Factor 11 deficiency
F11 c.1327C>T — Mennonite
Thrombophilia, susceptibility to, due to factor 5 Leiden
F5 c.1601G>A — Amish and Mennonite
Hemophilia B
F9 c.1025C>T — Amish
Marfan syndrome
FBN1 c.3704delC— Amish
Posterior column ataxia and retinitis pigmentosa
FLVCR1 c.361A>G — Mennonite
FLVCR1 c.371A>G
Fragile X syndrome
FMR1 (CGG)n expansion — Mennonite
Glycogen storage disease Ia
G6PC c.1039C>T
Pompe disease
GAA c.2238G>C — Mennonite
Galactosemia
GALT c.563A>G — Amish
Gaucher disease
GBA c.1226A>G
Glutaric aciduria, type 1
GCDH c.1262C>T — Amish
Charcot-Marie-Tooth disease
GDAP1 c.692C>T — Amish
Intrinsic factor deficiency
GIF c.79+1G>A
Non-syndromic deafness
GJB2 c.35delG — Amish and Mennonite
Hypomyelinating leukodystrophy
GJC2 c.203A>G — Amish
GM1-gangliosidosis
GLB1 c.902C>T — Amish
Non-ketotic hyperglycinemia
GLDC c.128delA — Amish
GLDC c.2186delC — Amish
Mucolipidosis II
GNPTAB c.732_733delAA — Mennonite
Mucopolysaccharidosis type VII
GUSB c.526C>T
Usher-like syndrome
HARS c.1361A>C — Amish
Mental retardation, autosomal recessive 38
HERC2 c.1781C>T
Hereditary hemochromatosis
HFE c.845G>A — Amish
Congenital hyperinsulinism, diazoxide-responsive
HNF4A c.926G>A — Amish
Tyrosinemia, type 3
HPD c.1005C>G — Mennonite
HPD c.479A>G — Mennonite
HPD c.85G>A — Mennonite
3-β-OH-steroid dehydrogenase deficiency
HSD3B2 c.35G>A — Amish
Mental retardation, X-linked syndromic, Turner type
HUWE1 c.12389G>A — Amish
Orofacial clefting
HYAL2 c.443A>G — Amish
Ciliary dyskinesia, primary, 5
HYDIN c.2047G>T
Endocrine-cerebro-osteodysplasia
ICK c.815G>A — Amish
Severe combined immune deficiency
IL7R c.2T>G — Mennonite
Multisystem autoimmune disease with facial dysmorphism
ITCH c.394dupA — Amish
Glanzmann thrombasthenia
ITGA2B c.526C>G
Psychomotor delay and intractable seizures
JKAMP c.243_244dupG — Mennonite
Long QT syndrome 2
KCNH2 c.1897A>C — Amish
Bipolar spectrum disorder, susceptibility to
KCNH7 c.1181G>A — Amish and Mennonite
Jervell and Lange-Nielsen syndrome 1
KCNQ1 c.451_452delCT
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
KCTD7 c.827A>G
Mental retardation, autosomal recessive 41
KPTN c.714_731dupTCTGCAGATGTGGTCGGT
Macrocephaly, neurodevelopmental delay, and seizures
KPTN c.776C>A — Amish
Cerebral cavernous malformations
KRIT1 c.47G>C — Mennonite
Poretti-Boltshauser syndrome
LAMA1 c.8556+1G>A — Amish
Pierson syndrome
LAMB2 c.440A>G — Mennonite
Mental retardation, autosomal recessive 27
LINS1 c.1912G>T — Mennonite
Lipodystrophy, familial partial, type 6
LIPE c.3203_3221delTAGACGGGGGCTGCGGGGG
Dilated cardiomyopathy with AV block
LMNA c.568C>T — Amish
CODAS syndrome
LONP1 c.2161C>G — Amish
Deafness, autosomal recessive 77
LOXHD1 c.4480C>T
Osteoporosis-pseudoglioma syndrome
LRP5 c.1225A>G — Mennonite
LRP5 c.1275G>A — Mennonite
Autosomal recessive deafness-63
LRTOMT c.95_108delGGACCATGTCCCCT — Mennonite
3-methylcrotonylglycinuria
MCCC2 c.295G>C — Amish
MCCC2 c.518insT — Mennonite
MCCC2 c.687A>C — Mennonite
Mental retardation, autosomal recessive 44
METTL23 c.350_352delCAC — Mennonite
Microphthalmia, isolated 5
MFRP c.1143insC
McKusick-Kauffman syndrome
MKKS [c.250C>T + c.724G>T] — Amish
Methylmalonic aciduria and homocystinuria, cblC type
MMACHC c.271dupA — Amish
Trichothiodystrophy, nonphotosensitive 1
MPLKIP c.430A>G — Amish
Homocystinuria
MTHFR c.1129C>T — Amish
Spastic ataxia
MTPAP c.1432A>G — Amish
Familial adenomatous polyposis-2
MUTYH c.1187G>A — Amish & Mennonite
Mevalonate kinase deficiency
MVK c.1174G>A — Mennonite
MVK c.803T>C — Mennonite
Cardiomyopathy, familial hypertrophic, 4
MYBPC3 c.2405insG
Cardiomyopathy (dilated, hypertrophic, severe neonatal) and left ventricular non-compaction
MYBPC3 c.3330+2T>G — Amish
Basal ganglia calcification, idiopathic, 7
MYORG c.1967T>C — Amish
N-terminal acetyltransferase deficiency (Ogden syndrome)
NAA10 c.247C>T — Mennonite
Gray platelet syndrome
NBEAL2 c.881C>G — Mennonite
Mitochondrial complex I deficiency
NDUFA12 c.178C>T — Mennonite
NDUFV1 c.640G>A
Sialidosis, type I
NEU1 c.69G>A
Infantile mitochondrial complex II/III deficiency
NFS1 c.215G>A — Mennonite
Sensorineural hearing loss
NIN c.4666C>T — Amish
Proximal symphalangism 1A
NOG c.122T>A — Amish
Nephronophthisis 3
NPHP3 c.2104C>T
Nephrotic syndrome, type 1
NPHS1 c.1425_1428delCCTC — Mennonite
NPHS1 c.1481delC — Mennonite
NPHS1 c.3250delG — Mennonite
Nephrotic syndrome, type 2
NPHS2 c.413G>A — Amish
Familial focal epilepsy and focal cortical dysplasia
NPRL3 c.349delG — Mennonite
Congenital insensitivity to pain with anhidrosis
NTRK1 c.1501+1G>A — Mennonite
Albinism, oculocutaneous, type II
OCA2 c.823A>G — Mennonite
OCA2 c.2433G>T — Mennonite
X-linked mental retardation-106
OGT c.1970C>T — Amish
Ornithine transcarbamylase deficiency
OTC c.422G>A — Amish
Deafness, autosomal recessive 9
OTOF c.2348delG
Osteogenesis imperfecta, type VIII
P3H1 c.1460C>T — Mennonite
Phenylketonuria
PAH c.1066-11G>A — Amish & Mennonite
PAH c.1199+17G>A — Amish
PAH c.1315+1G>A — Mennonite
PAH c.284_286delTCA — Amish & Mennonite
PAH c.782G>A — Amish & Mennonite
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
PANK2 c.930_936delCTTTTGT
Propionic acidemia
PCCB c.1606A>G — Amish and Mennonite
Ataxia-telangiectasia-like disorder 2
PCNA c.683G>T
Prolidase deficiency
PEPD c.793C>T — Amish
Zellweger syndrome
PEX26 c.292C>T — Amish
Polycystic kidney disease
PKD1 c.12138+2T>C — Amish
Pyruvate kinase deficiency
PKLR c.1436G>A — Amish
Pyruvate kinase deficiency of red cells
PKLR c.1529G>A
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO)
POLG c.1399G>A — Amish
Mitochondrial DNA depletion syndrome
POLG c.752C>T — Amish
Hemophagocytic lymphohistiocytosis, familial, 2
PRF1 c.1122G>A
Parkinson disease, juvenile, type 2
PRKN c.101_102delAG — Amish
Episodic kinesigenic dyskinesia 1
PRRT2 c.649dupC — Amish
Charcot-Marie-Tooth disease, type 4F
PRX c.2145T>A — Mennonite
phosphoserine aminotransferase deficiency
PSAT1 c.420G>A
Glycogen storage disease, type 6
PYGL c.1620+1G>A — Mennonite
Severe combined immune deficiency
RAG1 c.2974A>G — Amish
Immunodeficiency
RAG1 c.527G>T — Mennonite
Myasthenic syndrome, congenital, 11, associated with acetylecholine receptor deficiency
RAPSN c.264C>A
RAPSN c.328C>T
Retinoblastoma
RB1 c.1981C>T — Mennonite
Cartilage-hair hypoplasia
RMRP n.71A>G — Amish
Microcephalic osteodysplastic primordial dwarfism, type 1
RNU4ATAC n.51G>A — Amish
Kohlschutter-Tonz syndrome
ROGDI c.665dupG
Cerebral vasculopathy and early onset stroke
SAMHD1 c.1411-2A>G — Amish
Epilepsy, generalized, with febrile seizures plus, type 1
SCN1B c.350G>A — Mennonite
SCN1B c.305_313delAGGATCTGT — Mennonite
Alpha-1 antitrypsin deficiency
SERPINA1 c.1096G>A — Amish and Mennonite
Limb-girdle muscular dystrophy
SGCB c.271C>T — Amish
SGCB c.452C>G — Amish
Charcot-Marie-Tooth disease type 4C
SH3TC2 c.2860C>T — Mennonite
Gittelman syndrome
SLC12A3 c.1-1471_893del — Amish
SLC12A3 c.1924C>G — Amish
Salla disease
SLC17A5 c.115C>T — Mennonite
Carnitine deficiency, systemic primary
SLC22A5 c.364G>T
Amish microcephaly
SLC25A19 c.530G>C — Amish
Hypertrophic cardiomyopathy
SLC25A4 c.523delC — Mennonite
Diastrophic dysplasia
SLC26A2 c.835C>T — Mennonite
Cystinuria
SLC3A1 c.1354C>T — Mennonite
SLC3A1 c.1136+2T>C — Mennonite
Spherocytosis, type 4
SLC4A1 c.2422C>T
Glucose–galactose malabsorption
SLC5A1 c.1673G>A — Amish
Infantile parkinsonism-dystonia syndrome
SLC6A3 [c.1408T>A + c.1409A>G] — Amish
SLC6A3 c.1269+1G>A — Mennonite
Cystinuria
SLC7A9 c.1166C>T — Mennonite
SLC7A9 c.201C>T — Mennonite
Deafness and myopia
SLITRK6 c.1240C>T — Amish
Alzahrani-Kuwahara syndrome
SMG8 c.1832G>A — Amish
Spinal muscular atrophy
SMN1 copy number — Amish & Mennonite
Symptomatic epilepsy and skull dysplasia
SNIP1 c.1097A>G — Amish
Troyer syndrome
SPART c.1110delA— Amish
Mast syndrome
SPG21 c.601dupA — Amish
Elliptocytosis 2
SPTA1 c.6154delG – Mennonite
Kahrizi syndrome
SRD5A3 c.176dupA
GM3 synthase deficiency
ST3GAL5 c.862C>T — Amish
STRADA deficiency
STRADA c.471-1974_1047+2194del — Mennonite
Spinocerebellar ataxia type 8
SYNE1 c.17905C>T — Amish
Mental retardation, autosomal recessive
TAF11 c.464C>T — Mennonite
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
TANGO2 22.6 kb deletion — Mennonite
Holt-Oram syndrome
TBX5 c.474dupC — Amish
Osteopetrosis, autosomal recessive 1
TCIRG1 c.1228G>A
Aplastic anemia and pulmonary fibrosis
TERT c.1710G>C — Mennonite
Segawa syndrome, autosomal recessive
TH c.1481C>T
Tyrosine hydroxylase deficiency
TH c.698G>A — Mennonite
Primary torsion dystonia
THAP1 c.135_139delTAAACinsGGGTTTA — Amish
Familial hypercholanemia
TJP2 c.143T>C — Amish
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
TMCO1 c.292_293delAG — Amish
Mitochondrial complex I deficiency
TMEM126B c.635G>T
Cerebral atrophy
TMPRSS4 c.995C>T
Familial periodic fever
TNFRSF1A c.362G>A — Mennonite
Nemaline rod myopathy
TNNT1 c.538G>T — Amish
Torsion dystonia
TOR1A c.907_909delGAG — Mennonite
Thyroid dyshormonogenesis 2A
TPO c.1943G>A
TPO c.2395G>A — Amish
Sudden infant death with dysgenesis of the testes
TSPYL1 c.457dupG — Amish
Short rib-polydactyly syndrome, type 2
TTC21B c.2500C>T
Microcephaly with chorioretinopathy
TUBGCP6 c.5458T>G — Mennonite
Oculocutaneous albinism type IB
TYR c.1217C>T — Amish
Angelman syndrome
UBE3A c.2327A>C — Amish
Crigler-Najjar syndrome
UGT1A1 c.222C>A — Amish and Mennonite
Cohen syndrome
VPS13B c.9260dupT — Amish
von Willebrand disease
VWF c.4120C>T — Amish
Galloway-Mowat syndrome
WDR73 c.888delT — Amish
Wolfram syndrome
WFS1 c.2015T>C — Amish
Failure to thrive, developmental delay, liver dysfunction, and abnormal subcortical white matter
YARS c.499C>A — Amish
Autoimmune disease, multisystem, infantile-onset 2
ZAP70 c.1624-11G>A
Spastic paraplegia-15
ZFYVE26 c.4114_4115insGAAGGGC — Amish
Restrictive dermopathy
ZMPSTE24 c.1085dupT
ZMPSTE24 c.54_55insT — Mennonite
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Our clinic serves as a trusted medical home for families working to prevent and treat genetic illness in their children. Serving predominantly Amish and Mennonite families, the sturdy, timber-framed building was "raised" by the hands of those in the Anabaptist community outside of Strasburg, PA. Inside the clinic is filled with an array of high-tech gene sequencing that allows us to deliver state of the art care in a nurturing environment.