ClinVar Miner

Variants from Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

Location: Korea, Republic of  Primary collection method: reference population
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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: 295
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
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
PDE11A 0 4 0 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
FLG 3 0 0 0 0 3
PAH 0 0 3 0 0 3
RP1L1 0 0 3 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
CAPN3 1 1 0 0 0 2
CCDST, FLG 0 1 1 0 0 2
CD36 1 1 0 0 0 2
CYP1B1 0 0 2 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
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, POLR1C 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
SLC26A4 0 1 1 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, FTH1 0 1 0 0 0 1
BMP4 0 0 1 0 0 1
BMPR2 0 0 1 0 0 1
BRCA1 0 0 1 0 0 1
BRCA1, LOC126862571 0 1 0 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, MFF-DT 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
CYP1B1, LOC128772254 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 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
FMO3 0 0 1 0 0 1
FMO3, LOC126805916 1 0 0 0 0 1
FUT2, LOC105447645 1 0 0 0 0 1
G6PC1 0 1 0 0 0 1
GALE 0 1 0 0 0 1
GALK1, ITGB4 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, ZNF454 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 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, PDK1 0 0 1 0 0 1
ITGB3 0 0 1 0 0 1
JAG1 0 0 1 0 0 1
KCNE2, LOC105372791 0 1 0 0 0 1
KCNE3, LIPT2 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
LOC123956210, SLC26A4 0 1 0 0 0 1
LOC126806104, TPO 0 0 1 0 0 1
LOC126859861, PLG 0 0 1 0 0 1
LOC129930446, MMACHC 0 0 1 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
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
PLOD3 0 1 0 0 0 1
PMM2 0 1 0 0 0 1
POLG, POLGARF 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
TBCEL-TECTA, TECTA 0 0 1 0 0 1
TCOF1 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
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, susceptibility to, 2 1 0 3 0 0 4
Familial adenomatous polyposis 2 1 1 2 0 0 4
Familial hypokalemia-hypomagnesemia 0 0 4 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
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromic hearing loss 3A 1 0 2 0 0 3
Cystic fibrosis 0 0 2 1 0 3
Finnish congenital nephrotic syndrome 0 0 3 0 0 3
Glaucoma 3A 0 0 3 0 0 3
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 2 1 0 0 0 3
Occult macular dystrophy 0 0 3 0 0 3
Phenylketonuria 0 0 3 0 0 3
Propionic acidemia 0 2 1 0 0 3
Recessive dystrophic epidermolysis bullosa; Generalized dominant dystrophic epidermolysis bullosa 0 0 3 0 0 3
Type 2 diabetes mellitus 0 0 2 1 0 3
Aicardi-Goutieres syndrome 1 1 1 0 0 0 2
Alexander disease 0 0 2 0 0 2
Autosomal dominant nonsyndromic hearing loss 6 0 0 2 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2A 1 1 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 4 0 1 1 0 0 2
Becker muscular dystrophy 0 0 1 0 1 2
Branchiootorenal syndrome 1 0 0 2 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 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
Colorectal cancer, hereditary nonpolyposis, type 2 0 0 2 0 0 2
Complement factor b deficiency 0 0 0 2 0 2
Congenital stationary night blindness 1C 0 1 1 0 0 2
Cystinuria 0 1 1 0 0 2
Deficiency of butyrylcholinesterase 0 1 1 0 0 2
Dilated cardiomyopathy 1T 0 0 2 0 0 2
Donnai-Barrow syndrome 0 1 1 0 0 2
Familial hemophagocytic lymphohistiocytosis 3 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
Hereditary factor VIII deficiency disease 0 1 1 0 0 2
Hirschsprung disease, susceptibility to, 1 0 0 0 1 1 2
Hypercholesterolemia, familial, 1 0 0 2 0 0 2
Hypothyroidism due to TSH receptor mutations 1 0 1 0 0 2
Lynch syndrome 1 0 0 2 0 0 2
Marfan syndrome 0 0 2 0 0 2
Mitochondrial trifunctional protein deficiency 0 1 1 0 0 2
Normophosphatemic familial tumoral calcinosis 0 0 2 0 0 2
Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 0 0 2 0 0 2
Pendred syndrome 0 2 0 0 0 2
Platelet-type bleeding disorder 10 1 1 0 0 0 2
Thrombophilia 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
Xeroderma pigmentosum variant type 0 2 0 0 0 2
3M syndrome 2 0 0 1 0 0 1
3MC syndrome 1 0 0 1 0 0 1
Achondrogenesis, type IA 0 1 0 0 0 1
Acne inversa, familial, 1 1 0 0 0 0 1
Acute lymphoid leukemia 0 0 1 0 0 1
Aicardi-Goutieres syndrome 2 0 0 1 0 0 1
Alagille syndrome due to a JAG1 point mutation 0 0 1 0 0 1
Alstrom syndrome 0 1 0 0 0 1
Amyotrophic lateral sclerosis type 2, juvenile 0 0 1 0 0 1
Anhaptoglobinemia 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 13 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 8 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 9 0 0 0 1 0 1
Asphyxiating thoracic dystrophy 3 0 1 0 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
Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 0 1 0 0 0 1
Autosomal dominant auditory neuropathy 1 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 12 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 25 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 5 0 0 1 0 0 1
Autosomal recessive Alport syndrome 0 0 1 0 0 1
Autosomal recessive ataxia due to ubiquinone deficiency 0 1 0 0 0 1
Autosomal recessive bestrophinopathy 0 1 0 0 0 1
Autosomal recessive congenital ichthyosis 1 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromic hearing loss 3B 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 28 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 30 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 35 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 8 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 9 1 0 0 0 0 1
Autosomal recessive spinocerebellar ataxia 12 0 1 0 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 1; Joubert syndrome 6 0 1 0 0 0 1
Bartter disease type 2 0 0 1 0 0 1
Bartter disease type 4A 0 0 1 0 0 1
Beaded hair 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
Blood group, I system; Cataract 13 with adult I phenotype 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
COG5-congenital disorder of glycosylation 0 0 1 0 0 1
Candidiasis, familial, 6 0 0 1 0 0 1
Carney complex - trismus - pseudocamptodactyly syndrome; Hecht syndrome 0 0 1 0 0 1
Cataract 10 multiple types 0 1 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 5 0 1 0 0 0 1
Cerebrooculofacioskeletal syndrome 4 0 1 0 0 0 1
Citrullinemia type I 0 1 0 0 0 1
Classic homocystinuria 0 1 0 0 0 1
Cobalamin C disease 0 0 1 0 0 1
Complement component 7 deficiency 1 0 0 0 0 1
Cone dystrophy with supernormal rod response 0 0 1 0 0 1
Cone-rod dystrophy 13 1 0 0 0 0 1
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 0 1 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 dyserythropoietic anemia, type II 0 0 1 0 0 1
Congenital hereditary endothelial dystrophy of cornea 0 0 1 0 0 1
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 0 1 0 0 1
Congenital lipoid adrenal hyperplasia due to STAR deficency 1 0 0 0 0 1
Congenital nongoitrous hypothryoidism 6 0 0 1 0 0 1
Congenital stationary night blindness 1B 0 0 1 0 0 1
Corneal dystrophy, lattice type 3A; Groenouw corneal dystrophy type I 0 0 1 0 0 1
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome 0 0 1 0 0 1
Cystathioninuria 0 1 0 0 0 1
Dalmatian hypouricemia 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
Diamond-Blackfan anemia 9 0 0 1 0 0 1
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; 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
Dyskeratosis congenita, autosomal recessive 3 0 0 1 0 0 1
Dystonia 16 0 0 1 0 0 1
Epidermolytic palmoplantar keratoderma 0 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 11 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
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 disease; Progressive supranuclear ophthalmoplegia 0 0 1 0 0 1
GNE myopathy 0 1 0 0 0 1
Geleophysic dysplasia 1 0 0 1 0 0 1
Generalized pustular psoriasis 0 0 1 0 0 1
Geroderma osteodysplastica 0 1 0 0 0 1
Glanzmann thrombasthenia 0 1 0 0 0 1
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 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 adenocarcinoma 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
Hereditary spastic paraplegia 11 0 1 0 0 0 1
Hereditary spastic paraplegia 5A 1 0 0 0 0 1
Hereditary spherocytosis type 2 0 1 0 0 0 1
Hereditary spherocytosis type 5 0 0 1 0 0 1
Heterotopia, periventricular, X-linked dominant 0 0 0 1 0 1
High molecular weight kininogen deficiency 0 0 1 0 0 1
Hirschsprung disease, susceptibility to, 2 0 0 1 0 0 1
Hirschsprung disease, susceptibility to, 4 0 0 1 0 0 1
Hyperekplexia 1 0 1 0 0 0 1
Hyperinsulinism-hyperammonemia syndrome 0 0 1 0 0 1
Hyperthyroxinemia, familial dysalbuminemic 0 0 1 0 0 1
Hypertrophic cardiomyopathy 1 0 0 1 0 0 1
Hypertrophic cardiomyopathy 16 0 0 1 0 0 1
Hypertrophic cardiomyopathy 20 0 0 1 0 0 1
Hypertrophic cardiomyopathy 4 0 0 1 0 0 1
Hypogonadotropic hypogonadism 1 with or without anosmia 0 0 1 0 0 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 1 0 0 0 1
Hypoparathyroidism-retardation-dysmorphism syndrome; Autosomal recessive Kenny-Caffey syndrome 0 1 0 0 0 1
Hypotrichosis 7 0 1 0 0 0 1
Imerslund-Grasbeck syndrome 0 0 1 0 0 1
Immunodeficiency 35 1 0 0 0 0 1
Inherited Creutzfeldt-Jakob disease 0 1 0 0 0 1
Inherited glutathione synthetase deficiency 0 0 1 0 0 1
Intellectual disability, X-linked syndromic, Turner type 0 0 1 0 0 1
Intellectual disability, autosomal recessive 46 0 0 1 0 0 1
Iodotyrosyl coupling defect 0 0 1 0 0 1
Joubert syndrome 14 0 0 1 0 0 1
Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 0 0 1 0 0 1
Junctional epidermolysis bullosa with pyloric atresia 0 0 1 0 0 1
Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa simplex 1C, localized; Junctional epidermolysis bullosa, non-Herlitz type 0 1 0 0 0 1
Junctional epidermolysis bullosa, non-Herlitz type 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
Li-Fraumeni syndrome 1 0 1 0 0 0 1
Long QT syndrome 13 0 1 0 0 0 1
Malignant hyperthermia, susceptibility to, 1 0 0 1 0 0 1
Malignant tumor of prostate 0 0 1 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
Meier-Gorlin syndrome 2 1 0 0 0 0 1
Melanoma, cutaneous malignant, susceptibility to, 5 0 0 1 0 0 1
Methylmalonic acidemia due to transcobalamin receptor defect 0 1 0 0 0 1
Microcephaly 5, primary, autosomal recessive 0 1 0 0 0 1
Microcephaly 6, primary, autosomal recessive 0 0 1 0 0 1
Microphthalmia with brain and digit anomalies 0 0 1 0 0 1
Migraine, with or without aura, susceptibility to, 13 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 0 0 1 0 0 1
Mitochondrial DNA depletion syndrome, myopathic form 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 7 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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 1 0 0 0 0 1
Myofibrillar myopathy 6 0 0 0 0 1 1
Myopathy, proximal, and ophthalmoplegia 0 1 0 0 0 1
Nephronophthisis 4; Senior-Loken syndrome 4 0 1 0 0 0 1
Nephrotic syndrome, type 2 0 0 1 0 0 1
Neuroblastoma 0 1 0 0 0 1
Neuronal ceroid lipofuscinosis 1 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
Olmsted syndrome 1 0 0 1 0 0 1
Orofacial cleft 5; Tooth agenesis, selective, 1 0 0 1 0 0 1
Osteogenesis imperfecta type I 0 0 1 0 0 1
PMM2-congenital disorder of glycosylation 0 1 0 0 0 1
Parkinsonian-pyramidal syndrome 0 0 1 0 0 1
Peripheral arterial occlusive disease 1 0 0 1 0 0 1
Periventricular heterotopia with microcephaly, autosomal recessive 0 0 1 0 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 ciliary dyskinesia 3 0 1 0 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
Progressive familial heart block type IB 0 0 1 0 0 1
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 4b 0 1 0 0 0 1
Proline dehydrogenase deficiency; Schizophrenia 4 0 0 0 0 1 1
Prostate cancer, hereditary, 2; Combined oxidative phosphorylation defect type 17 0 0 1 0 0 1
Pulmonary hypertension, primary, 1 0 0 1 0 0 1
Pyruvate kinase deficiency of red cells 0 0 1 0 0 1
Renal tubular acidosis with progressive nerve deafness 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
Saldino-Mainzer syndrome 0 1 0 0 0 1
Seckel syndrome 5 1 0 0 0 0 1
Seckel syndrome 6 0 1 0 0 0 1
Seizures, benign familial neonatal, 1 0 0 1 0 0 1
Severe early-childhood-onset retinal dystrophy 0 0 1 0 0 1
Short stature due to partial GHR deficiency 0 0 1 0 0 1
Smith-Lemli-Opitz syndrome 0 0 1 0 0 1
Surfactant metabolism dysfunction, pulmonary, 2 0 0 1 0 0 1
Thyroglobulin synthesis defect 1 0 0 0 0 1
Thyroid cancer, nonmedullary, 1 0 0 1 0 0 1
Thyroxine-binding globulin deficiency 0 0 1 0 0 1
Torsion dystonia 6 0 0 1 0 0 1
Treacher Collins syndrome 1 0 0 1 0 0 1
Treacher Collins syndrome 3 0 1 0 0 0 1
Tuberous sclerosis 1 0 0 1 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
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
Wolfram syndrome 1 0 0 1 0 0 1
X-linked Alport syndrome 0 0 1 0 0 1
X-linked lymphoproliferative disease due to XIAP deficiency 0 0 1 0 0 1

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