ClinVar Miner

Variants from Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center

Location: Korea, Republic of — Primary collection method: reference population
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
31 98 224 7 6 366

Gene and significance breakdown #

Total genes and gene combinations: 291
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FLG 3 1 1 0 0 5
USH2A 0 0 5 0 0 5
ATP7B 1 1 2 0 0 4
BRCA2 1 0 3 0 0 4
MUTYH 1 1 2 0 0 4
SLC12A3 0 0 4 0 0 4
CFTR 0 0 2 1 0 3
CNGA1, LOC101927157 2 0 1 0 0 3
COL7A1 0 0 3 0 0 3
CYP1B1 0 0 3 0 0 3
PAH 0 0 3 0 0 3
PDE11A 0 3 0 0 0 3
RP1L1 0 0 3 0 0 3
SLC26A4 0 2 1 0 0 3
SLCO2A1 2 1 0 0 0 3
WFS1 0 0 3 0 0 3
ATRIP, ATRIP-TREX1, TREX1 1 1 0 0 0 2
BCHE 0 1 1 0 0 2
BRCA1 0 1 1 0 0 2
CAPN3 1 1 0 0 0 2
CD36 1 1 0 0 0 2
CYP21A2, LOC106780800 0 1 1 0 0 2
CYP27A1 0 2 0 0 0 2
DMD 0 0 1 0 1 2
DUOX2 0 2 0 0 0 2
EYA1 0 0 2 0 0 2
F8 0 1 1 0 0 2
FBN1 0 0 2 0 0 2
FMO3 1 0 1 0 0 2
FUT6 0 0 2 0 0 2
GALC 0 2 0 0 0 2
GCKR 0 1 1 0 0 2
GFAP 0 0 2 0 0 2
GJB2 1 0 1 0 0 2
HADHB 0 1 1 0 0 2
LRP5 0 1 1 0 0 2
MLH1 0 0 2 0 0 2
MSH2 0 0 2 0 0 2
NPHS1 0 0 2 0 0 2
PCCB 0 2 0 0 0 2
POLH 0 2 0 0 0 2
PROC 0 0 2 0 0 2
RET 0 0 0 1 1 2
SAMD9 0 0 2 0 0 2
SCN1A, SCN9A 0 0 1 0 1 2
SLC25A13 2 0 0 0 0 2
TMPO 0 0 2 0 0 2
TRPM1 0 1 1 0 0 2
TSHR 1 0 1 0 0 2
UNC13D 0 0 2 0 0 2
WNT10A 0 0 2 0 0 2
ABCA1 0 0 1 0 0 1
ABCA4 0 0 1 0 0 1
ABCC8 0 0 0 1 0 1
ADAMTS13 0 0 1 0 0 1
ADAMTSL2 0 0 1 0 0 1
ADGRV1 0 0 1 0 0 1
ALB 0 0 1 0 0 1
ALMS1 0 1 0 0 0 1
ALS2 0 0 1 0 0 1
AMACR, C1QTNF3-AMACR 0 0 1 0 0 1
AMPD1 0 1 0 0 0 1
ANOS1 0 0 1 0 0 1
ARFGEF2 0 0 1 0 0 1
ASPM 0 1 0 0 0 1
ASS1 0 1 0 0 0 1
ATP6V1B1 0 0 1 0 0 1
BAG3 0 0 0 0 1 1
BBS1, ZDHHC24 0 0 1 0 0 1
BBS4 0 1 0 0 0 1
BCKDHB 0 1 0 0 0 1
BEST1 0 1 0 0 0 1
BMP4 0 0 1 0 0 1
BMPR2 0 0 1 0 0 1
BSND 0 0 1 0 0 1
BTD 0 0 1 0 0 1
C2, CFB 0 0 0 1 0 1
C7 1 0 0 0 0 1
CBS 0 1 0 0 0 1
CD320 0 1 0 0 0 1
CD96 0 0 1 0 0 1
CDH1 0 1 0 0 0 1
CENPJ 0 0 1 0 0 1
CEP152 1 0 0 0 0 1
CEP290 0 0 1 0 0 1
CEP63 0 1 0 0 0 1
CFB 0 0 0 1 0 1
CHEK2 0 0 1 0 0 1
CHROMR, PRKRA 0 0 1 0 0 1
CLCN2 0 0 1 0 0 1
CNGB1 0 0 1 0 0 1
COG5 0 0 1 0 0 1
COL11A2 0 0 1 0 0 1
COL17A1 0 0 1 0 0 1
COL1A1 0 0 1 0 0 1
COL4A3, LOC654841 0 1 0 0 0 1
COL4A4 0 0 1 0 0 1
COL4A5 0 0 1 0 0 1
COQ8A 0 1 0 0 0 1
CORIN, LOC101927179 0 0 1 0 0 1
CRB1 0 0 1 0 0 1
CRYBA1 0 1 0 0 0 1
CSF1R 0 0 1 0 0 1
CTH 0 1 0 0 0 1
CTNNA3 0 0 1 0 0 1
CUBN 0 0 1 0 0 1
CYP4V2 0 0 1 0 0 1
CYP7B1 1 0 0 0 0 1
DBNL, PGAM2 0 0 1 0 0 1
DHCR7 0 0 1 0 0 1
DIAPH3 0 0 1 0 0 1
DMGDH 0 0 1 0 0 1
DNAH5 0 1 0 0 0 1
DSP 0 0 1 0 0 1
DUOXA2 1 0 0 0 0 1
DYNC2H1 0 1 0 0 0 1
EDN3 0 0 1 0 0 1
EDNRB 0 0 1 0 0 1
ELAC2 0 0 1 0 0 1
EPB42 0 0 1 0 0 1
ERCC1 0 1 0 0 0 1
ESRRB 0 0 1 0 0 1
F12, SLC34A1 0 1 0 0 0 1
F9 0 0 1 0 0 1
FANCI 0 1 0 0 0 1
FBN2 0 1 0 0 0 1
FBXO7 0 0 1 0 0 1
FKTN 1 0 0 0 0 1
FLNA 0 0 0 1 0 1
FUT2, LOC105447645 1 0 0 0 0 1
G6PC 0 1 0 0 0 1
GALE 0 1 0 0 0 1
GAMT 0 1 0 0 0 1
GATA4 0 0 1 0 0 1
GCNT2 0 0 1 0 0 1
GHR 0 0 1 0 0 1
GJB4 0 0 1 0 0 1
GJB6 0 0 1 0 0 1
GLDC 0 0 1 0 0 1
GLRA1 0 1 0 0 0 1
GLUD1 0 0 1 0 0 1
GNE 0 1 0 0 0 1
GORAB 0 1 0 0 0 1
GRM6, LOC100130798 0 0 1 0 0 1
GSDME 0 0 1 0 0 1
GSS 0 0 1 0 0 1
GUCA1B 0 0 1 0 0 1
GUSB 0 0 1 0 0 1
HARS2 0 0 1 0 0 1
HNF4A 0 0 1 0 0 1
HP, TXNL4B 0 0 1 0 0 1
HSD17B4 0 1 0 0 0 1
HUWE1 0 0 1 0 0 1
IFT140, LOC105371046 0 1 0 0 0 1
IL17F 0 0 1 0 0 1
IL36RN 0 0 1 0 0 1
IRS1 0 0 1 0 0 1
ITGA2B 0 1 0 0 0 1
ITGA6 0 0 1 0 0 1
ITGB3 0 0 1 0 0 1
ITGB4 0 1 0 0 0 1
JAG1 0 0 1 0 0 1
KCNE2 0 1 0 0 0 1
KCNE3 0 1 0 0 0 1
KCNJ1 0 0 1 0 0 1
KCNJ10 0 1 0 0 0 1
KCNJ5 0 1 0 0 0 1
KCNK18 0 1 0 0 0 1
KCNQ2 0 0 1 0 0 1
KCNV2 0 0 1 0 0 1
KIF1B 0 1 0 0 0 1
KIRREL2, NPHS1 0 0 1 0 0 1
KLKB1 0 1 0 0 0 1
KNG1 0 0 1 0 0 1
KRT83 0 1 0 0 0 1
KRT9 0 0 1 0 0 1
LDLR 0 0 1 0 0 1
LIPH 0 1 0 0 0 1
LMBRD1 0 0 1 0 0 1
LOC105373764, PDE11A 0 1 0 0 0 1
LRP2 0 1 0 0 0 1
LRPPRC 0 0 1 0 0 1
MAPT 0 0 1 0 0 1
MASP1 0 0 1 0 0 1
MC1R 0 0 1 0 0 1
MLC1 0 0 1 0 0 1
MMACHC 0 0 1 0 0 1
MMP14 0 0 1 0 0 1
MPV17 0 0 1 0 0 1
MSX1 0 0 1 0 0 1
MYBPC3 0 0 1 0 0 1
MYH2, MYHAS 0 1 0 0 0 1
MYH7 0 0 1 0 0 1
MYH8, MYHAS 0 0 1 0 0 1
MYO3A 0 0 1 0 0 1
MYOZ2 0 0 1 0 0 1
MYPN 0 0 1 0 0 1
NAGLU 0 1 0 0 0 1
NBN 0 0 1 0 0 1
NCSTN 1 0 0 0 0 1
NDST1 0 0 1 0 0 1
NEXN 0 0 1 0 0 1
NLRP1 0 0 1 0 0 1
NPHP1 0 0 1 0 0 1
NPHP4 0 1 0 0 0 1
NPHS2 0 0 1 0 0 1
NR0B1 0 0 1 0 0 1
NR1D1, THRA 0 0 1 0 0 1
OBSL1 0 0 1 0 0 1
OPTN 0 0 1 0 0 1
ORC4 1 0 0 0 0 1
OTOF 1 0 0 0 0 1
PANK2 0 0 1 0 0 1
PCCA 0 0 1 0 0 1
PCM1 0 0 1 0 0 1
PDE6B 0 0 1 0 0 1
PEX7 0 1 0 0 0 1
PHEX 0 0 1 0 0 1
PIKFYVE 0 1 0 0 0 1
PKD1 0 0 1 0 0 1
PKLR 0 0 1 0 0 1
PKP2 0 0 0 1 0 1
PLA2G7 0 0 1 0 0 1
PLG 0 0 1 0 0 1
PLOD3 0 1 0 0 0 1
PMM2 0 1 0 0 0 1
POLG 0 1 0 0 0 1
POLR1C 0 1 0 0 0 1
POR 0 1 0 0 0 1
PPT1 0 1 0 0 0 1
PRKAG2 0 0 1 0 0 1
PRNP 0 1 0 0 0 1
PRODH 0 0 0 0 1 1
PROKR2 0 1 0 0 0 1
PTCH2 0 1 0 0 0 1
PYGL 0 0 1 0 0 1
RAD50, TH2LCRR 0 0 1 0 0 1
RARS2 0 0 1 0 0 1
RECQL4 0 1 0 0 0 1
RHAG 0 0 0 0 1 1
RNASEH2B 0 0 1 0 0 1
ROBO2 0 0 1 0 0 1
RP1 0 1 0 0 0 1
RPGRIP1 1 0 0 0 0 1
RPS10, RPS10-NUDT3 0 0 1 0 0 1
RYR1 0 0 1 0 0 1
RYR2 0 0 1 0 0 1
SCN10A 0 0 1 0 0 1
SCN2B 0 0 1 0 0 1
SCN5A 0 0 1 0 0 1
SCNN1B 0 0 1 0 0 1
SEC23B 0 0 1 0 0 1
SERPINA3 0 0 1 0 0 1
SERPINA7 0 0 1 0 0 1
SFTPC 0 0 1 0 0 1
SLC17A8 0 0 1 0 0 1
SLC22A12 1 0 0 0 0 1
SLC3A1 0 0 1 0 0 1
SLC4A11 0 0 1 0 0 1
SLC7A9 0 1 0 0 0 1
SPG11 0 1 0 0 0 1
SPTB 0 1 0 0 0 1
SRCAP 0 0 1 0 0 1
STAR 1 0 0 0 0 1
SUMF1 0 1 0 0 0 1
TBCE 0 1 0 0 0 1
TCOF1 0 0 1 0 0 1
TECTA 0 0 1 0 0 1
TG 0 0 1 0 0 1
TGFBI 0 0 1 0 0 1
TGM1 0 0 1 0 0 1
THAP1 0 0 1 0 0 1
TK2 0 0 1 0 0 1
TMEM237 0 0 1 0 0 1
TMEM67 0 1 0 0 0 1
TMPRSS3 0 0 1 0 0 1
TP53 0 1 0 0 0 1
TPO 0 0 1 0 0 1
TRDN 0 1 0 0 0 1
TRIOBP 0 0 1 0 0 1
TRIP11 0 1 0 0 0 1
TRPM4 0 0 1 0 0 1
TRPV3 0 0 1 0 0 1
TSC1 0 0 1 0 0 1
TTN 0 0 1 0 0 1
TYK2 1 0 0 0 0 1
UPB1 0 0 1 0 0 1
WRAP53 0 0 1 0 0 1
WWOX 0 1 0 0 0 1
XIAP 0 0 1 0 0 1
ZEB2 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 283
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Ichthyosis vulgaris 3 1 1 0 0 5
Usher syndrome, type 2A 0 0 5 0 0 5
Breast-ovarian cancer, familial 2 1 0 3 0 0 4
Familial hypokalemia-hypomagnesemia 0 0 4 0 0 4
MYH-associated polyposis 1 1 2 0 0 4
Pigmented nodular adrenocortical disease, primary, 2 0 4 0 0 0 4
Retinitis pigmentosa 49 2 0 2 0 0 4
Wilson disease 1 1 2 0 0 4
Cystic fibrosis 0 0 2 1 0 3
Deafness, autosomal recessive 1A; Deafness, autosomal dominant 3a 1 0 2 0 0 3
Diabetes mellitus type 2 0 0 2 1 0 3
Finnish congenital nephrotic syndrome 0 0 3 0 0 3
Glaucoma 3, primary congenital, A 0 0 3 0 0 3
Occult macular dystrophy 0 0 3 0 0 3
Phenylketonuria 0 0 3 0 0 3
Primary hypertrophic osteoarthropathy, autosomal recessive 2 2 1 0 0 0 3
Propionyl-CoA carboxylase deficiency 0 2 1 0 0 3
Recessive dystrophic epidermolysis bullosa; Generalized dominant dystrophic epidermolysis bullosa 0 0 3 0 0 3
Aicardi Goutieres syndrome 1 1 1 0 0 0 2
Alexander Disease 0 0 2 0 0 2
Becker muscular dystrophy 0 0 1 0 1 2
Breast-ovarian cancer, familial 1 0 1 1 0 0 2
Cholestanol storage disease 0 2 0 0 0 2
Citrullinemia type II 2 0 0 0 0 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 0 1 1 0 0 2
Complement factor B deficiency 0 0 0 2 0 2
Congenital stationary night blindness, type 1C 0 1 1 0 0 2
Cystinuria 0 1 1 0 0 2
Deficiency of butyrylcholine esterase 0 1 1 0 0 2
Dilated cardiomyopathy 1T 0 0 2 0 0 2
Donnai Barrow syndrome 0 1 1 0 0 2
Enlarged vestibular aqueduct 0 1 1 0 0 2
Familial hypercholesterolemia 0 0 2 0 0 2
Fasting plasma glucose level quantitative trait locus 5 0 1 1 0 0 2
Fucosyltransferase 6 deficiency 0 0 2 0 0 2
Galactosylceramide beta-galactosidase deficiency 0 2 0 0 0 2
Hemophagocytic lymphohistiocytosis, familial, 3 0 0 2 0 0 2
Hereditary factor VIII deficiency disease 0 1 1 0 0 2
Hirschsprung disease 1 0 0 0 1 1 2
Hypothyroidism, congenital, nongoitrous, 1 1 0 1 0 0 2
Limb-girdle muscular dystrophy, type 2A 1 1 0 0 0 2
Lynch syndrome I 0 0 2 0 0 2
Lynch syndrome II 0 0 2 0 0 2
Marfan syndrome 0 0 2 0 0 2
Melnick-Fraser syndrome 0 0 2 0 0 2
Mitochondrial trifunctional protein deficiency 0 1 1 0 0 2
Odontoonychodermal dysplasia; Tooth agenesis, selective, 4 0 0 2 0 0 2
Pendred syndrome 0 2 0 0 0 2
Platelet glycoprotein IV deficiency 1 1 0 0 0 2
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant 0 0 2 0 0 2
Thyroid dyshormonogenesis 6 0 2 0 0 0 2
Trimethylaminuria 1 0 1 0 0 2
Tumoral calcinosis, familial, normophosphatemic 0 0 2 0 0 2
WFS1-Related Disorders 0 0 2 0 0 2
Xeroderma pigmentosum, variant type 0 2 0 0 0 2
Achondrogenesis, type IA 0 1 0 0 0 1
Acute lymphoid leukemia 0 0 1 0 0 1
Adult junctional epidermolysis bullosa 0 0 1 0 0 1
Aicardi Goutieres syndrome 2 0 0 1 0 0 1
Alagille syndrome 1 0 0 1 0 0 1
Alport syndrome 1, X-linked recessive 0 0 1 0 0 1
Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive; Benign familial hematuria 0 1 0 0 0 1
Alport syndrome, autosomal recessive 0 0 1 0 0 1
Alstrom syndrome 0 1 0 0 0 1
Amyotrophic lateral sclerosis type 2 0 0 1 0 0 1
Anhaptoglobinemia 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 8 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 0 0 1 0 1
Arrhythmogenic right ventricular dysplasia, familial, 13 0 0 1 0 0 1
Atrial fibrillation, familial, 14 0 0 1 0 0 1
Atrial fibrillation, familial, 4; Long QT syndrome 6 0 1 0 0 0 1
Atrial septal defect 2; Ventricular septal defect 1; Atrioventricular septal defect 4 0 0 1 0 0 1
Auditory neuropathy, autosomal dominant, 1 0 0 1 0 0 1
Autosomal recessive congenital ichthyosis 1 0 0 1 0 0 1
Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome 0 1 0 0 0 1
Bardet-Biedl syndrome 1 0 0 1 0 0 1
Bardet-Biedl syndrome 4 0 1 0 0 0 1
Bardet-Biedl syndrome; COACH syndrome; Joubert syndrome 6 0 1 0 0 0 1
Bartter syndrome type 4 0 0 1 0 0 1
Bartter syndrome, type 2, antenatal 0 0 1 0 0 1
Beaded hair 0 1 0 0 0 1
Benign familial neonatal seizures 1 0 0 1 0 0 1
Bestrophinopathy, autosomal recessive 0 1 0 0 0 1
Bietti crystalline corneoretinal dystrophy 0 0 1 0 0 1
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 0 1 0 0 0 1
Biotinidase deficiency 0 0 1 0 0 1
Bone fragility with contractures, arterial rupture, and deafness 0 1 0 0 0 1
Bone mineral density quantitative trait locus 1 0 1 0 0 0 1
Bronchiectasis with or without elevated sweat chloride 1 0 0 1 0 0 1
Brugada syndrome 6 0 1 0 0 0 1
C syndrome 0 0 1 0 0 1
Candidiasis, familial, 6 0 0 1 0 0 1
Carbohydrate-deficient glycoprotein syndrome type I 0 1 0 0 0 1
Carney complex variant; Hecht syndrome 0 0 1 0 0 1
Cataract, congenital zonular, with sutural opacities 0 1 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 1 0 0 1
Cerebrooculofacioskeletal syndrome 4 0 1 0 0 0 1
Ceroid lipofuscinosis neuronal 1 0 1 0 0 0 1
Cholesterol monooxygenase (side-chain cleaving) deficiency 1 0 0 0 0 1
Ciliary dyskinesia, primary, 3 0 1 0 0 0 1
Citrullinemia type I 0 1 0 0 0 1
Coenzyme Q10 deficiency, primary, 4 0 1 0 0 0 1
Complement component 7 deficiency 1 0 0 0 0 1
Cone-rod dystrophy 13 1 0 0 0 0 1
Congenital adrenal hypoplasia, X-linked 0 0 1 0 0 1
Congenital contractural arachnodactyly 0 1 0 0 0 1
Congenital disorder of glycosylation type 2i 0 0 1 0 0 1
Congenital dyserythropoietic anemia, type II 0 0 1 0 0 1
Congenital stationary night blindness, type 1B 0 0 1 0 0 1
Corneal endothelial dystrophy type 2 0 0 1 0 0 1
Cutaneous malignant melanoma 5 0 0 1 0 0 1
Cystathioninuria 0 1 0 0 0 1
Deafness, autosomal dominant 12 0 0 1 0 0 1
Deafness, autosomal dominant 25 0 0 1 0 0 1
Deafness, autosomal dominant 5 0 0 1 0 0 1
Deafness, autosomal recessive 1b; Deafness, autosomal dominant 3b 0 0 1 0 0 1
Deafness, autosomal recessive 28 0 0 1 0 0 1
Deafness, autosomal recessive 30 0 0 1 0 0 1
Deafness, autosomal recessive 35 0 0 1 0 0 1
Deafness, autosomal recessive 53; Deafness, autosomal dominant 13 0 0 1 0 0 1
Deafness, autosomal recessive 8 0 0 1 0 0 1
Deafness, autosomal recessive 9 1 0 0 0 0 1
Deficiency of beta-ureidopropionase 0 0 1 0 0 1
Deficiency of guanidinoacetate methyltransferase 0 1 0 0 0 1
Deficiency of iodide peroxidase 0 0 1 0 0 1
Diabetes mellitus AND insipidus with optic atrophy AND deafness 0 0 1 0 0 1
Diamond-Blackfan anemia 9 0 0 1 0 0 1
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Familial hypertrophic cardiomyopathy 9 0 0 1 0 0 1
Dilated cardiomyopathy 1KK 0 0 1 0 0 1
Dimethylglycine dehydrogenase deficiency 0 0 1 0 0 1
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 0 1 0 0 0 1
Dyskeratosis congenita, autosomal recessive, 3 0 0 1 0 0 1
Dystonia 16 0 0 1 0 0 1
Dystonia 6, torsion 0 0 1 0 0 1
Epidermolysis bullosa junctionalis with pyloric atresia 0 0 1 0 0 1
Epidermolysis bullosa junctionalis with pyloric atresia; Epidermolysis bullosa simplex, Cockayne-Touraine type; Adult junctional epidermolysis bullosa 0 1 0 0 0 1
Epilepsy with grand mal seizures on awakening 0 0 1 0 0 1
Episodic pain syndrome, familial, 2 0 0 1 0 0 1
Exudative vitreoretinopathy 4 0 0 1 0 0 1
Factor XII deficiency disease 0 1 0 0 0 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 0 1 0 0 1
Familial acne inversa 1 1 0 0 0 0 1
Familial hypertrophic cardiomyopathy 1 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 16 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 20 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 4 0 0 1 0 0 1
Familial renal hypouricemia 1 0 0 0 0 1
Fanconi anemia, complementation group I 0 1 0 0 0 1
Fleck corneal dystrophy 0 1 0 0 0 1
Floating-Harbor syndrome 0 0 1 0 0 1
Frontotemporal dementia; Pick's disease; Progressive supranuclear ophthalmoplegia 0 0 1 0 0 1
Fukuyama congenital muscular dystrophy; Limb-girdle muscular dystrophy-dystroglycanopathy, type C4; Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 1 0 0 0 0 1
Geleophysic dysplasia 1 0 0 1 0 0 1
Geroderma osteodysplastica 0 1 0 0 0 1
Glanzmann thrombasthenia 0 1 0 0 0 1
Gluthathione synthetase deficiency 0 0 1 0 0 1
Glycogen storage disease type 1A 0 1 0 0 0 1
Glycogen storage disease type X 0 0 1 0 0 1
Glycogen storage disease, type VI 0 0 1 0 0 1
Gorlin syndrome 0 1 0 0 0 1
Hereditary diffuse gastric cancer 0 1 0 0 0 1
Hereditary diffuse leukoencephalopathy with spheroids 0 0 1 0 0 1
Hereditary factor IX deficiency disease 0 0 1 0 0 1
Heterotopia, periventricular, autosomal recessive 0 0 1 0 0 1
High molecular weight kininogen deficiency 0 0 1 0 0 1
Hirschsprung disease 2 0 0 1 0 0 1
Hirschsprung disease 4 0 0 1 0 0 1
Homocystinuria due to CBS deficiency 0 1 0 0 0 1
Hyperekplexia hereditary 0 1 0 0 0 1
Hyperinsulinism-hyperammonemia syndrome 0 0 1 0 0 1
Hyperthyroxinemia, familial dysalbuminemic 0 0 1 0 0 1
Hypoparathyroidism retardation dysmorphism syndrome; Kenny-Caffey syndrome type 1 0 1 0 0 0 1
Hypothyroidism, congenital, nongoitrous, 6 0 0 1 0 0 1
Hypotrichosis 7 0 1 0 0 0 1
I blood group system; Cataract 13 with adult i phenotype 0 0 1 0 0 1
Inclusion body myopathy 3 0 1 0 0 0 1
Iodotyrosyl coupling defect 0 0 1 0 0 1
Jakob-Creutzfeldt disease 0 1 0 0 0 1
Joubert syndrome 14 0 0 1 0 0 1
Joubert syndrome 4; Nephronophthisis 1; Senior-Loken syndrome 1 0 0 1 0 0 1
Kallmann syndrome 1 0 0 1 0 0 1
Kallmann syndrome 3 0 1 0 0 0 1
Lattice corneal dystrophy type 3A; Groenouw corneal dystrophy type I 0 0 1 0 0 1
Leber congenital amaurosis 10 0 0 1 0 0 1
Leber congenital amaurosis 8 0 0 1 0 0 1
Leigh syndrome, French Canadian type 0 0 1 0 0 1
Li-Fraumeni syndrome 1 0 1 0 0 0 1
Localized epidermolytic hyperkeratosis 0 0 1 0 0 1
Long QT syndrome 13 0 1 0 0 0 1
Lymphoproliferative syndrome 2, X-linked 0 0 1 0 0 1
Malignant hyperthermia, susceptibility to, 1 0 0 1 0 0 1
Malignant tumor of prostate 0 0 1 0 0 1
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 0 1 0 0 0 1
Maple syrup urine disease 0 1 0 0 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 1 0 0 1 0 0 1
Megaloblastic anemia due to inborn errors of metabolism 0 0 1 0 0 1
Meier-Gorlin syndrome 2 1 0 0 0 0 1
Mental retardation, X-linked, syndromic, Turner type 0 0 1 0 0 1
Mental retardation, autosomal recessive 46 0 0 1 0 0 1
Methylmalonic acidemia with homocystinuria 0 0 1 0 0 1
Methylmalonic aciduria due to transcobalamin receptor defect 0 1 0 0 0 1
Michels syndrome 0 0 1 0 0 1
Microphthalmia syndromic 6 0 0 1 0 0 1
Migraine, with or without aura 13 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 2 0 0 1 0 0 1
Mitochondrial complex I deficiency 0 0 1 0 0 1
Mowat-Wilson syndrome 0 0 1 0 0 1
Mucopolysaccharidosis type VII 0 0 1 0 0 1
Mucopolysaccharidosis, MPS-III-B 0 1 0 0 0 1
Multiple sulfatase deficiency 0 1 0 0 0 1
Muscle AMP deaminase deficiency 0 1 0 0 0 1
Myofibrillar myopathy, BAG3-related 0 0 0 0 1 1
Navajo neurohepatopathy 0 0 1 0 0 1
Nephronophthisis 4; Senior-Loken syndrome 4 0 1 0 0 0 1
Nephrotic syndrome, idiopathic, steroid-resistant 0 0 1 0 0 1
Neuroblastoma 0 1 0 0 0 1
Nijmegen breakage syndrome-like disorder 0 0 1 0 0 1
Non-ketotic hyperglycinemia 0 0 1 0 0 1
Nonaka myopathy 0 1 0 0 0 1
Nonmedullary thyroid carcinoma 1 0 0 1 0 0 1
Orofacial cleft 5; Selective tooth agenesis 1 0 0 1 0 0 1
Osteogenesis imperfecta type I 0 0 1 0 0 1
Palmoplantar carcinoma, multiple self-healing 0 0 1 0 0 1
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 0 0 1 0 0 1
Parkinson disease 15 0 0 1 0 0 1
Peripheral arterial occlusive disease 1 0 0 1 0 0 1
Periventricular nodular heterotopia 1 0 0 0 1 0 1
Perrault syndrome 2 0 0 1 0 0 1
Pigmentary pallidal degeneration 0 0 1 0 0 1
Plasminogen deficiency, type I 0 0 1 0 0 1
Platelet-activating factor acetylhydrolase deficiency 0 0 1 0 0 1
Platelet-type bleeding disorder 16; Glanzmann thrombasthenia 0 0 1 0 0 1
Polycystic kidney disease, adult type 0 0 1 0 0 1
Pontocerebellar hypoplasia type 6 0 0 1 0 0 1
Preeclampsia/eclampsia 5 0 0 1 0 0 1
Prekallikrein deficiency 0 1 0 0 0 1
Primary autosomal recessive microcephaly 5 0 1 0 0 0 1
Primary autosomal recessive microcephaly 6 0 0 1 0 0 1
Primary erythromelalgia 0 0 1 0 0 1
Primary erythromelalgia; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 7 0 0 0 0 1 1
Primary open angle glaucoma 0 0 1 0 0 1
Primary pulmonary hypertension 0 0 1 0 0 1
Progressive familial heart block type 1B 0 0 1 0 0 1
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 4B, MNGIE type 0 1 0 0 0 1
Proline dehydrogenase deficiency; Schizophrenia 4 0 0 0 0 1 1
Prostate cancer, hereditary, 2; Combined oxidative phosphorylation deficiency 17 0 0 1 0 0 1
Pustular psoriasis, generalized 0 0 1 0 0 1
Pyruvate kinase deficiency of red cells 0 0 1 0 0 1
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 0 1 0 0 0 1
Renal tubular acidosis with progressive nerve deafness 0 0 1 0 0 1
Retinal cone dystrophy 3B 0 0 1 0 0 1
Retinitis pigmentosa 1 0 1 0 0 0 1
Retinitis pigmentosa 40 0 0 1 0 0 1
Retinitis pigmentosa 48 0 0 1 0 0 1
Rh-null, regulator type 0 0 0 0 1 1
Rhizomelic chondrodysplasia punctata type 1; Peroxisome biogenesis disorder 9B 0 1 0 0 0 1
SUDDEN INFANT DEATH SYNDROME 0 0 1 0 0 1
Seckel syndrome 5 1 0 0 0 0 1
Seckel syndrome 6 0 1 0 0 0 1
Short stature, idiopathic, autosomal 0 0 1 0 0 1
Short-rib thoracic dysplasia 3 with or without polydactyly 0 1 0 0 0 1
Smith-Lemli-Opitz syndrome 0 0 1 0 0 1
Spastic paraplegia 11, autosomal recessive 0 1 0 0 0 1
Spastic paraplegia 5A 1 0 0 0 0 1
Spherocytosis type 2 0 1 0 0 0 1
Spherocytosis type 5 0 0 1 0 0 1
Spinocerebellar ataxia, autosomal recessive 12 0 1 0 0 0 1
Stargardt disease 1 0 0 1 0 0 1
Surfactant metabolism dysfunction, pulmonary, 2 0 0 1 0 0 1
Three M syndrome 2 0 0 1 0 0 1
Thyroglobulin synthesis defect 1 0 0 0 0 1
Thyroxine-binding globulin deficiency 0 0 1 0 0 1
Treacher Collins syndrome 1 0 0 1 0 0 1
Tuberous sclerosis 1 0 0 1 0 0 1
Tyrosine kinase 2 deficiency 1 0 0 0 0 1
UDPglucose-4-epimerase deficiency 0 1 0 0 0 1
Upshaw-Schulman syndrome 0 0 1 0 0 1
Usher syndrome, type 2C 0 0 1 0 0 1
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 0 1 0 0 0 1
Vesicoureteral reflux 2 0 0 1 0 0 1
Vitamin b12 plasma level quantitative trait locus 1 1 0 0 0 0 1
Winchester syndrome 0 0 1 0 0 1
Wolff-Parkinson-White pattern 0 0 1 0 0 1

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