Diseases & Variants
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, variants or changes in genes can cause a variety of disorders. Many different types of variants can cause disease.
View the list below with genetic variants we've seen or researched at the Clinic. These variants are included in version 3 of our Plain Insight Panel™ testing.
*** This list of tier 1 PIP variants was updated September 25, 2025 ***
Dubin-Johnson syndrome
ABCC2 c.2302C>T — Amish
Pseudoxanthoma elasticum
ABCC6 c.2787+1G>T
Hyperinsulinemic hypoglycemia of infancy
ABCC8 c.2995 C>T — Amish
Sitosterolemia
ABCG8 c.120C>A — Amish
ABCG8 c.1720G>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.403_405delATT - Amish
Very long-chain acyl-CoA dehydrogenase deficiency
ACADVL c.848T>C — Amish
Renal tubular dysgenesis
ACE c.3430C>T
Severe combined immunodeficiency due to adenosine deaminase deficiency
ADA c.424C>T
Adenosine deaminase deficiency
ADA c.646G>A — Amish
Weill-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
Cutis laxa, autosomal recessive, type IIIA
ALDH18A1 c.2293C>T — Amish
Hereditary fructose intolerance
ALDOB c.448G>C — Mennonite
Ichthyosiform erythroderma, congenital, nonbullous, 1
ALOX12B c.1579G>A
Hypophosphatasia, infantile
ALPL c.571G>A
ALPL c.1001G>A
Hypophosphatasia
ALPL c.407G>A
Vitamin B12 deficiency
AMN c.689_733delinsGG — Mennonite
Glycine encephalopathy
AMT c.230C>T
Non-syndromic intellectual disability
ANAPC7 c.511-2480_919+3276del — Amish
Familial hypobetalipoproteinemia-2
ANGPTL3 c.361_365delAACTC — Mennonite
Nephronophthisis 16
ANKS6 c.1381C>T
Hypotrichosis 1
APCDD1 c.412C>T
Inflammatory bowel disease (Torkelson syndrome)
APOA4 c.552_749dup — Mennonite
Familial hypercholesterolemia
APOB c.10580G>A — Amish
Hypobetalipoproteinemia, familial
APOB c.9200delA
Androgen insensitivity syndrome
AR c.2599G>A — Amish
ATM-related disorders
ATM c.1564_1565delGA
ATM c.5932G>T
ATM c.6200C>A
Wilson disease
ATP7B c.3207C>A
Byler disease
ATP8B1 c.923G>T
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
BCKDHA c.288+9C>T — Mennonite
Maple syrup urine disease, type Ib
BCKDHB c.595_596delAG
Lethal neonatal rigidity and multifocal epilepsy
BRAT1 c.638dupA — Amish
Susceptibility to familial breast and ovarian cancer
BRCA1 c.427G>T
BRCA2 c.5073dupA — Amish
Biotinidase deficiency, partial
BTD c.1330G>C — Amish and Mennonite
Biotinidase deficiency
BTD c.1368A>C
BTD c.1459T>C — Mennonite
BTD c.380C>T
BTD c.629A>G
Agammaglobulinemia, X-linked 1
BTK c.392-23_329-12del — Mennonite
Deafness, autosomal recessive 93
CABP2 c.608T>C — Mennonite
Cone-rod synaptic disorder, congenital nonprogressive
CABP4 c.800_801delAG — Mennonite
Episodic ataxia, type 2, and hemiplegic migraine
CACNA1A c.3043G>A — Amish
Aland Island eye disease and stationary night blindness
CACNA1F c.1807G>C
CACNA1F c.3166dupC — Amish
Myoclonic-astatic epilepsy
CACNA1G c.6806_6807delCT — Amish
Intellectual disability, autosomal dominant, 54
CAMK2B c.853C>T
Limb-girdle muscular dystrophy, type 2A
CAPN3 c.2306G>A — Amish
Homocystinuria due to cystathionine beta-synthase deficiency
CBS c.341C>T
Meckel syndrome
CC2D2A c.1666delA
CC2D2A c.3289delG
Trichohepatoneurodevelopmental syndrome
CCDC47 c.1145delT — Amish
Microcephaly, primary autosomal recessive, 6
CENPJ c.1078-2A>T — Amish
CENPJ c.3982A>T — Amish
Primary microcephaly 6
CENPJ c.40C>T — Amish
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly
CEP55 c.514dup — Amish
Age-related macular degeneration, type 4
CFH c.1507C>G — Amish
Complement factor I deficiency
CFI c.1400A>C — Amish
Properdin deficiency
CFP c.379T>G — Mennonite
Cystic fibrosis
CFTR c.1130G>C
CFTR c.1210-34T>G — Amish
CFTR c.1364C>A
CFTR c.1520_1522delTCT — Mennonites and Amish
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
Heterotaxy, visceral, 12, autosomal
CIROP c.346C>T
Dent disease 1
CLCN5 c.995delC
Bartter syndrome
CLCNKB c.0 — Amish
Neuronal ceroid lipofuscinosis 6
CLN6 c.358_366delTTCATCATG — Amish
Achromoatopsia 2
CNGA3 c.1126G>A — Mennonite
Achromoatopsia 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, type I
COL1A1 c.1354-12G>A
Osteogenesis imperfecta
COL1A2 c.2098G>T — Amish
COL1A2 c.2148_2156delinsACGTGG — Mennonite
Stickler syndrome, type I
COL2A1 c.1277G>A — Mennonite
Alport syndrome 1, X-linked
COL4A5 c.3619_3635del
Intellectual disability-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
Corticosterone methyloxidase deficiency
CYP11B2 c.104_109delinsG — Amish
CYP11B2 c.541C>T
CYP11B2 c.954G>A
Glaucoma 3A, primary open angle, congenital, A
CYP1B1 c.1063_1075delGAGTGCAGGCAGA
CYP1B1 c.1159G>A
CYP1B1 c.1405C>T
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
CYP21A2 c.518T>A — Amish
Infantile hypercalcemia
CYP24A1 c.1325delA — Amish
Spastic paraplegia 56
CYP2U1 c.1206_1207delAG — Mennonite
Ciliary dyskinesia, primary, 2
DAW1 c.427A>G
Orthostatic hypotension 1 due to dopamine beta-hydroxylase deficiency
DBH c.339+2T>C
Familial focal epilepsy with variable foci
DEPDC5 c.1453C>T — Mennonite
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
DGUOK c.763G>T
Duchenne muscular dystrophy
DMD c.5353C>T — Mennonite
DMD c.5972delT — Amish
Ciliary dyskinesia, primary, 18
DNAAF5 c.2374C>T — Mennonite
DNAAF5 c.2384T>C
Ciliary dyskinesia, primary, 3
DNAH5 c.10815delT
Primary ciliary dyskinesia
DNAH5 c.4348C>T — Amish
Ciliary dyskinesia, primary, 1
DNAI1 c.48+2dup
Ciliary dyskinesia, primary, 9
DNAI2 c.610+1G>A
Leber hereditary optic neuropathy, autosomal recessive
DNAJC30 c.152A>G — Mennonite
Arrhythmogenic right ventricular dysplasia, familial 8
DSP c.4789G>T
Dilated cardiomyopathy with arrhythmia
DSP c.699G>A — Amish
Hereditary sensory and autonomic neuropathy, type 6
DST c.11155C>T
DST c.5185-3379delC
DST c.6792G>A
Thyroid dyshormonogenesis 5
DUOXA2 c.829_830delTG — Amish
Waardenburg syndrome, type 4A
EDNRB c.828G>T — Mennonite
Nonsyndromic postaxial polydactyly
EFCAB7 c.956_959delTTAA
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
Pontocerebellar hypoplasia, type 1B
EXOSC3 c.238G>T — Amish
Multiple exostoses, type 1
EXT1 c.1818G>A — Amish
Seizures-scoliosis-macrocephaly syndrome
EXT2 c.[260T>G;283C>T]
Prothrombin thrombophilia
F2 c.*97G>A
Thrombophilia, susceptibility to, due to factor 5 Leiden
F5 c.1601G>A — Amish and Mennonite
Hemophilia A
F8 c.2053G>A — Amish
F8 c.494C>T — Amish
Hemophilia B
F9 c.1025C>T — Amish
Factor 11 deficiency
F11 c.1327C>T — Mennonite
Fanconi anemia, complementation group D2
FANCD2 c.1632_1633delGA
FANCD2 c.2444G>A
Cutis laxa, autosomal recessive, type IA
FBLN5 c.391T>C — Amish
Marfan syndrome
FBN1 c.1285C>T — Amish
FBN1 c.3704delC — Amish
FLNA deficiency
FLNA c.679G>T — Mennonite
Posterior column ataxia and retinitis pigmentosa
FLVCR1 c.361A>G — Mennonite
FLVCR1 c.371A>G
Familial exudative vitreoretinopathy (FEVR)
FZD4 c.313A>G — Amish
Glycogen storage disease Ia
G6PC c.1039C>T
Pompe disease
GAA c.2238G>C — Mennonite
Generalized epilepsy with febrile seizures plus, type 3 (GEFS+)
GABRG2 c.363G>T — Mennonite
Galactosemia
GALT c.563A>G — Amish
Gaucher disease
GBA c.1226A>G
Glutaric aciduria, type 1
GCDH c.1168G>C — Mennonite
GCDH c.1262C>T — Amish
Charcot-Marie-Tooth disease, axonal, type 2K
GDAP1 c.692C>T — Amish
Intrinsic factor deficiency
GIF c.79+1G>A
Deafness, autosomal recessive 1A
GJB2 c.101T>C
GJB2 c.229T>C
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
Albright hereditary osteodystrophy (AHO) with or without multiple hormone resistance
GNAS c.1024C>T
Mucolipidosis II
GNPTAB c.732_733delAA — Mennonite
Bernard-Soulier syndrome, type C
GP9 c.182A>G
Familial chronic diarrhea
GUCY2C c.2381A>T
Mucopolysaccharidosis type VII
GUSB c.526C>T
Usher-like syndrome
HARS1 c.1361A>C — Amish
Intellectual disability, autosomal recessive 38
HERC2 c.1781C>T — Amish
Hereditary hemochromatosis
HFE c.845G>A — Amish
Maturity onset diabetes of the young (MODY), type 1
HNF4A c.926G>A — Amish
Tyrosinemia, type 3
HPD c.1005C>G — Mennonite
HPD c.479A>G — Mennonite
HPD c.85G>A — Mennonite
Lesch-Nyhan syndrome
HPRT1 c.485G>A
3-β-OH-steroid dehydrogenase deficiency
HSD3B2 c.35G>A — Amish
Intellectual disability, 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
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
ITGA3 c.968A>G — Amish
Psychomotor delay and intractable seizures
JKAMP c.243_244dupG — Mennonite
Long QT syndrome 2
KCNH2 c.1897A>C — Amish
KCNQ1-related long QT syndrome
KCNQ1 c.451_452delCT
Long QT syndrome 1
KCNQ1 c.671C>T — Amish
Bipolar spectrum disorder, susceptibility to
KCNH7 c.1181G>A — Amish and Mennonite
Ventriculomegaly and arthrogryposis (VENARG)
KIDINS220 c.2712C>G
Intellectual disability, 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.2067C>G
LAMB2 c.440A>G — Mennonite
Intellectual disability, autosomal recessive 27
LINS1 c.1912G>T — Mennonite
Lipodystrophy, familial partial, type 6
LIPE c.3203_3221delTAGACGGGGGCTGCGGGGG
Combined lipase deficiency with severe hypertriglyceridemia
LMF1 c.153delG
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.517dupT — Mennonite
MCCC2 c.687A>C — Mennonite
Intellectual disability, autosomal recessive 44
METTL23 c.278_280delCAC — Mennonite
Microphthalmia, isolated 5
MFRP c.1143insC
MFRP c.1150dupC
Waardenburg syndrome, type 2A
MITF c.1212G>A — Amish
McKusick-Kauffman syndrome
MKKS [c.250C>T + c.724G>T] — Amish
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
MLIP c.1825A>T
Methylmalonic aciduria and homocystinuria, cblC type
MMACHC c.271dupA — Amish
Heterotaxy, visceral, 9, autosomal, with male infertility
MNS1 c.407_410delAAAG
Trichothiodystrophy, nonphotosensitive 1
MPLKIP c.430A>G — Amish
Premature ovarian failure 13; spermatogenic failure 74
MSH5 c.541C>T
Homocystinuria due to MTHFR deficiency
MTHFR c.1129C>T — Amish
Spastic ataxia
MTPAP c.1432A>G — Amish
Familial adenomatous polyposis-2
MUTYH c.1187G>A — Amish and 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
Usher syndrome, type 1B
MYO7A c.52C>T — Hutterite
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
NDUFA10 c.415C>T — Mennonite
Sialidosis, type I
NEU1 c.69G>A
Neurodevelopmental disorder with central and peripheral motor dysfunction
NFASC c.911A>C
Infantile mitochondrial complex II/III deficiency
NFS1 c.215G>A — Mennonite
Sensorineural hearing loss
NIN c.4666C>T — Amish
Symphalangism, proximal, 1A
NOG c.122T>A — Amish
Niemann-Pick disease, type C2
NPC2 c.325G>T — 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.1327G>A
OCA2 c.1465A>G
OCA2 c.823A>G — Mennonite
OCA2 c.2433G>T — Mennonite
Orofaciodigital syndrome I
OFD1 c.1313C>G — Amish
X-linked intellectual disability-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
PAH c.284_286delTCA — Amish & Mennonite
PAH c.734T>C
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
Deafness, autosomal recessive 23
PCDH15 c.3516+1G>A — Amish
PCDH15 c.3732+1G>A
Ataxia-telangiectasia-like disorder 2
PCNA c.683G>T
Prolidase deficiency
PEPD c.793C>T — Amish
Zellweger syndrome
PEX26 c.292C>T — Amish
Gastrointestinal defects and immunodeficiency syndrome 2
PI4KA c.4885T>G — 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
Lynch syndrome
PMS2 c.2095G>C
Pancreatic lipase deficiency
PNLIP c.869G>A — Amish
Combined oxidative phosphorylation deficiency 13
PNPT1 c.1925_1927delTGG — Amish
Mitochondrial DNA depletion syndrome
POLG c.[752C>T;1760C>T] — Amish
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO)
POLG c.1399G>A — Amish
Muscular dystrophy-dystroglycanopathy, type A, 1
POMT1 c.818C>T
Hemophagocytic lymphohistiocytosis, familial, 2
PRF1 c.1122G>A
Parkinson disease, juvenile, type 2
PRKN c.101_102delAG — Amish
Short stature, brachydactyly, intellectual developmental disability, and seizures
PRMT7 c.820C>T
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
Nijmegen breakage syndrome-like disorder
RAD50 c.2165dupA
Severe combined immune deficiency
RAG1 c.2974A>G — Amish
RAG1-related immunodeficiency
RAG1 c.527G>T — Mennonite
Omenn syndrome
RAG2 c.1352G>C
Myasthenic syndrome, congenital, 11, associated with acetylecholine receptor deficiency
RAPSN c.264C>A
RAPSN c.328C>T
Pontocerebellar hypoplasia, type 6
RARS2 c.1516G>A — Mennonite
RARS2 c.1544A>G
Retinoblastoma
RB1 c.1981C>T — Mennonite
Leber congenital amaurosis 13
RDH12 c.139G>A — 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
Intellectual developmental disorder, autosomal recessive 70
RSRC1 81 kb deletion — Amish
Exertion-related ventricular arrhythmia
RYR2 333 kb duplication — Amish and Mennonite
Cerebral vasculopathy and early onset stroke
SAMHD1 c.1411-2A>G — Amish
Shwachman-Diamond syndrome 1
SBDS c.258+2T>C
Epilepsy, generalized, with febrile seizures plus, type 1
SCN1B c.305_313delAGGATCTGT — Mennonite
SCN1B c.350G>A — Mennonite
Mitochondrial complex II deficiency, nuclear type 4
SDHB c.749C>T
Alpha-1 antitrypsin deficiency
SERPINA1 c.1096G>A — Amish and Mennonite
Plasminogen activator inhibitor 1 deficiency
SERPINE1 c.699_700dupTA — Amish
Muscular dystrophy, limb-girdle, type 2D
SGCA c.850C>T
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
Gitelman 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.1136+2T>C — Mennonite
SLC3A1 c.1354C>T — 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
Atelis syndrome 2
SMC5 c.2968C>G — Amish
Alzahrani-Kuwahara syndrome
SMG8 c.1832G>A — Amish
Spinal muscular atrophy
SMN1 copy number — Amish & Mennonite
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
SMPD4 c.462+1G>T
Symptomatic epilepsy and skull dysplasia
SNIP1 c.1097A>G — Amish
SORD-related neuropathy
SORD c.757delG— Amish
Troyer syndrome
SPART c.1110delA— Amish
Mast syndrome
SPG21 c.601dupA— Amish
Congenital secretory sodium diarrhea with or without congenital anomalies
SPINT2 c.488A>G
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
Glutaric aciduria, type 3
SUGCT c.895C>T — Amish
Spinocerebellar ataxia type 8
SYNE1 c.17905C>T — Amish
Non-syndromic developmental delay with seizures
SZT2 c.5701C>T — Amish
Intellectual disability, autosomal recessive
TAF11 c.464C>T — Mennonite
Metabolic encephalomyopathic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
TANGO2 c.57-1743_831+10974 — Mennonite
TBC1D24-related neurological disorder
TBC1D24 c.457G>A
Holt-Oram syndrome
TBX5 c.474dupC — Amish
Osteopetrosis, autosomal recessive 1
TCIRG1 c.1228G>A
Aplastic anemia and pulmonary fibrosis
TERT c.1710G>C
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 intellectual disability syndrome
TMCO1 c.139_140delAG — Amish
Mitochondrial complex I deficiency, nuclear type 29
TMEM126B c.635G>T
Cerebral atrophy
TMPRSS4 c.995C>T
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
Pontocerebellar hypoplasia
TSEN54 c.1220C>T — Mennonite
TSEN54 c.919G>T
Sudden infant death with dysgenesis of the testes
TSPYL1 c.457dupG — Amish
46, XY disorder of sex development
TSPYL1 c.920T>C
Short rib-polydactyly syndrome, type 2
TTC21B c.2500C>T
Cardiomyopathy, familial hypertrophic 9
TTN c.59693G>A
Microcephaly with chorioretinopathy
TUBGCP6 c.5458T>G — Mennonite
Albinism, oculocutaneous, type IA/IB
TYR c.1217C>T — Amish
Angelman syndrome
UBE3A c.2327A>C — Amish
Autosomal recessive ichthyosis
UGCG c.1028_1029delGT — Mennonite
UGCG c.828G>A — Mennonite
Crigler-Najjar syndrome
UGT1A1 c.222C>A — Amish and Mennonite
Usher syndrome, type 1G
USH1G c.84dupC — 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
Seizures, apnea, bradycardia, dystonia, nystagmus
ZDHHC16 c.4C>T — Amish
Spastic paraplegia-15
ZFYVE26 c.4114_4115insGAAGGGC — Amish
Restrictive dermopathy, lethal
ZMPSTE24 c.1085dupT
Restrictive dermopathy
ZMPSTE24 c.54_55insT — Mennonite
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Our clinic serves as a trusted medical practice for children and adults facing rare genetic disorders. Our dedicated team works every day to prevent and treat genetic illnesses. Our facility is in the heart of the Amish and Mennonite communities in Lancaster County. Inside is filled with cutting-edge gene sequencing tools that allow us to deliver highly personalized care—a precise treatment option for the right patient at the right time.