ClinVar Miner

Variants from Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam

Location: Vietnam  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 drug response total
168 113 155 0 0 1 437

Gene and significance breakdown #

Total genes and gene combinations: 244
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Gene or gene combination pathogenic likely pathogenic uncertain significance drug response total
SLC25A13 14 2 1 0 17
PKHD1 1 2 7 0 10
PTPN11 10 0 0 0 10
KCNQ2 4 2 1 0 7
LOC102724058, SCN1A 3 3 1 0 7
CFTR 3 1 2 0 6
ABCC2 1 1 3 0 5
HBB, LOC106099062, LOC107133510 5 0 0 0 5
MMUT 1 2 2 0 5
PHKA2 1 2 2 0 5
AGL 2 1 1 0 4
DUOX2 3 0 1 0 4
G6PD 3 1 0 0 4
IGHMBP2 1 2 1 0 4
JAG1 4 0 0 0 4
SERAC1 0 0 4 0 4
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 1 3 0 4
VPS33B 3 0 1 0 4
MYH7 2 0 1 0 3
NF1 3 0 0 0 3
NOTCH2 1 0 2 0 3
SCN1A 1 1 1 0 3
SPTB 2 1 0 0 3
STXBP1 2 1 0 0 3
TNNT2 0 2 1 0 3
TSC2 2 0 1 0 3
UNC13D 1 1 1 0 3
ABCB11 0 0 2 0 2
ABCB4 0 1 1 0 2
ABCC8 2 0 0 0 2
ABCG8 0 1 1 0 2
ACADS 0 0 2 0 2
ACTA1 0 1 1 0 2
ANK1 1 0 1 0 2
ATAD3A 0 0 2 0 2
ATP1A3 2 0 0 0 2
ATP7B 1 1 0 0 2
CASP10 0 1 1 0 2
CASR 0 2 0 0 2
CD96 0 2 0 0 2
CHD7 2 0 0 0 2
CIITA 2 0 0 0 2
CLCN6 0 0 2 0 2
COL4A5 2 0 0 0 2
COQ6, ENTPD5 0 1 1 0 2
CREBBP 1 1 0 0 2
CUBN 2 0 0 0 2
CYP27A1 1 0 1 0 2
DGUOK 0 0 2 0 2
DMD 2 0 0 0 2
F8 1 0 1 0 2
FAN1, MTMR10 0 0 2 0 2
FGA 1 0 1 0 2
FGFR2 1 1 0 0 2
FGFR3 2 0 0 0 2
FOXP3 1 1 0 0 2
G6PC1 0 1 1 0 2
GALC 0 2 0 0 2
GCDH 1 1 0 0 2
H6PD 0 0 2 0 2
HEXB 0 1 1 0 2
HMGCL 0 1 1 0 2
HRAS, LRRC56 2 0 0 0 2
IDS 0 1 1 0 2
IFIH1 0 0 2 0 2
ITGB3 1 1 0 0 2
ITPA 1 0 1 0 2
KCNMA1 0 0 2 0 2
KCTD7 0 0 2 0 2
KLF1, LOC117125591 2 0 0 0 2
LAMA2 0 0 2 0 2
LDLR 1 1 0 0 2
LRBA 1 1 0 0 2
MTFMT 0 2 0 0 2
MYBPC3 1 1 0 0 2
NDUFS1 0 2 0 0 2
NEB 0 2 0 0 2
NPC1 1 0 1 0 2
NPHP3, NPHP3-ACAD11 0 0 2 0 2
OCA2 0 1 1 0 2
OTC 1 1 0 0 2
P3H1 1 1 0 0 2
PEX1 2 0 0 0 2
PHEX 1 1 0 0 2
PIGA 0 1 1 0 2
PMM2 1 1 0 0 2
POLG 1 0 1 0 2
POMT2 0 2 0 0 2
PRMT7 0 1 1 0 2
PROC 0 0 2 0 2
PYGL 0 2 0 0 2
RAG1 1 0 1 0 2
RAG2 0 0 2 0 2
RARS2 0 1 1 0 2
RFT1 0 1 1 0 2
SAMD9 0 2 0 0 2
SLC22A5 1 1 0 0 2
SLC25A15 1 1 0 0 2
SLC34A2 0 2 0 0 2
SLC37A4 1 0 1 0 2
SLC4A1 1 0 1 0 2
SLC6A5 0 1 1 0 2
SPINK1 0 1 1 0 2
SRD5A2 1 1 0 0 2
STAT3 1 0 1 0 2
TAFAZZIN 0 1 1 0 2
TBC1D24 1 0 1 0 2
TJP2 1 1 0 0 2
TPM1 1 1 0 0 2
UBE3B 1 1 0 0 2
WAS 0 0 2 0 2
ABCD1 1 0 0 0 1
ACAD9 0 1 0 0 1
ACAD9, CFAP92 0 1 0 0 1
ACTB 0 1 0 0 1
ADAMTS12, AGXT2, AMACR, ANXA2R, ANXA2R-OT1, BRIX1, C1QTNF3, C1QTNF3-AMACR, C5orf22, C5orf34, C6, C7, C9, CAPSL, CAPSL-DT, CARD6, CCDC152, CCL28, CDH6, CPLANE1, DAB2, DNAJC21, DROSHA, EGFLAM, FBXO4, FGF10, FGF10-INT1, FLJ32255, FYB1, GDNF, GHR, GOLPH3, HCN1, HMGCS1, IL7R, LIFR, LINC00603, LINC00604, LINC01265, LINC02061, LINC02064, LINC02104, LINC02107, LINC02110, LINC02117, LINC02119, LINC02120, LINC02160, LINC02224, LINC02996, LMBRD2, LOC100132356, LOC100506639, LOC105374704, LOC105374715, LOC105374748, LOC107963949, LOC107963950, LOC108281130, LOC108348025, LOC110120690, LOC111501791, LOC111556114, LOC112997588, LOC112997589, LOC112997590, LOC112997591, LOC112997592, LOC114004392, LOC114004393, LOC114803477, LOC114827820, LOC116158513, LOC116158514, LOC121056762, LOC121056763, LOC121056764, LOC121725199, LOC121725200, LOC121725201, LOC121725202, LOC121725203, LOC121725204, LOC123493282, LOC123493283, LOC123493284, LOC123493285, LOC123493286, LOC123493287, LOC123493288, LOC123493289, LOC123493290, LOC123493291, LOC123493292, LOC123493293, LOC123493294, LOC123493295, LOC123493296, LOC123493297, LOC123493298, LOC123493299, LOC123493300, LOC123493301, LOC123493302, LOC123493303, LOC126807339, LOC126807340, LOC126807341, LOC126807342, LOC126807343, LOC126807344, LOC126807345, LOC126807346, LOC126807347, LOC126807348, LOC126807349, LOC126807350, LOC126807351, LOC126807352, LOC126807353, LOC126807354, LOC126807355, LOC126807356, LOC126807357, LOC126807358, LOC126807359, LOC126807360, LOC126807361, LOC126807362, LOC126807363, LOC126807364, LOC126807365, LOC126807366, LOC126807367, LOC126807368, LOC126807369, LOC126807370, LOC126807371, LOC126807372, LOC126807373, LOC126807374, LOC126807375, LOC126807376, LOC126807377, LOC126807378, LOC126807379, LOC126807380, LOC126807381, LOC126807382, LOC128667222, LOC129389265, LOC129389266, LOC129389267, LOC129389268, LOC129389269, LOC129389270, LOC129389271, LOC129389272, LOC129389273, LOC129389274, LOC129389275, LOC129389276, LOC129389277, LOC129389278, LOC129389279, LOC129389280, LOC129389281, LOC129993745, LOC129993746, LOC129993747, LOC129993748, LOC129993749, LOC129993750, LOC129993751, LOC129993752, LOC129993753, LOC129993754, LOC129993755, LOC129993756, LOC129993757, LOC129993758, LOC129993759, LOC129993760, LOC129993761, LOC129993762, LOC129993763, LOC129993764, LOC129993765, LOC129993766, LOC129993767, LOC129993768, LOC129993769, LOC129993770, LOC129993771, LOC129993772, LOC129993773, LOC129993774, LOC129993775, LOC129993776, LOC129993777, LOC129993778, LOC129993779, LOC129993780, LOC129993781, LOC129993782, LOC129993783, LOC129993784, LOC129993785, LOC129993786, LOC129993787, LOC129993788, LOC129993789, LOC129993790, LOC129993791, LOC129993792, LOC129993793, LOC129993794, LOC129993795, LOC129993796, LOC129993797, LOC129993798, LOC129993799, LOC129993800, LOC129993801, LOC129993802, LOC129993803, LOC129993804, LOC129993805, LOC129993806, LOC129993807, LOC129993808, LOC129993809, LOC129993810, LOC129993811, LOC129993812, LOC129993813, LOC129993814, LOC129993815, LOC129993816, LOC129993817, LOC129993818, LOC129993819, LOC129993820, LOC129993821, LOC129993822, LOC129993823, LOC129993824, LOC129993825, LOC129993826, LOC129993827, LOC129993828, LOC129993829, LOC129993830, LOC129993831, LOC129993832, LOC129993833, LOC129993834, LOC129993835, LOC129993836, LOC129993837, LOC129993838, LOC129993839, LOC129993840, LOC129993841, LOC129993842, LOC129993843, LOC129993844, LOC129993845, LOC129993846, LOC129993847, LOC129993848, LOC129993849, LOC129993850, LOC129993851, LOC129993852, LOC129993853, LOC129993854, LOC129993855, LOC129993856, LOC129993857, LOC129993858, LOC129993859, LOC129993860, LOC129993861, LOC129993862, LOC129993863, LOC129993864, LOC129993865, LOC129993866, LOC129993867, LOC129993868, LOC129993869, LOC129993870, LOC129993871, LOC132089238, LOC132089239, LOC132089240, LOC132089241, LOC132089242, LOC132089243, LOC132089244, LOC132089245, LOC132089246, LOC132089247, LOC132089248, LOC132089254, LOC132089255, LOC132089256, LOC132089257, LOC132089258, LOC132089259, LOC132089260, LOC132089261, LOC132089262, LOC132089263, LOC132089264, LOC132089265, LOC132089266, LOC132089267, LOC132089268, LOC132089269, LOC132089270, LOC132089271, LOC132090727, LOC132090728, LOC132090729, LOC132090730, MIR3650, MIR4279, MIR579, MIR580, MROH2B, MRPS30, MRPS30-DT, MTMR12, NADK2, NIM1K, NIPBL, NIPBL-DT, NNT, NPR3, NUP155, OSMR, OSMR-DT, OXCT1, PAIP1, PDZD2, PLCXD3, PRKAA1, PRLR, PTGER4, RAD1, RAI14, RAI14-DT, RANBP3L, RICTOR, RIMOC1, RPL37, RXFP3, SELENOP, SKP2, SLC1A3, SLC45A2, SNORD72, SPEF2, SUB1, TARS1, TMEM267, TTC23L, TTC33, UGT3A1, UGT3A2, WDR70, ZFR, ZNF131 0 1 0 0 1
ADAR 0 0 1 0 1
AFG3L2 0 1 0 0 1
AIRE 1 0 0 0 1
ANK1, LOC126860369 0 0 1 0 1
APOB 0 0 1 0 1
BICD2 0 0 1 0 1
BRAF 0 0 1 0 1
C3 0 0 1 0 1
CACNA1D 0 1 0 0 1
CCDST, FLG 1 0 0 0 1
CDKL5 1 0 0 0 1
CDKN1C 0 0 1 0 1
CFTR, LOC111674472 1 0 0 0 1
CHRNA2 0 1 0 0 1
CHRNE, LOC130060041 1 0 0 0 1
CLCN1 1 0 0 0 1
CLCN5, LOC126863258 1 0 0 0 1
CLCN7 0 0 1 0 1
COL11A1 1 0 0 0 1
COL1A1 1 0 0 0 1
COL1A1, LOC126862586 0 1 0 0 1
COL4A1 0 0 1 0 1
COL4A3, MFF-DT 0 0 1 0 1
CPT2 0 0 1 0 1
CRYAB 0 1 0 0 1
DCX 0 0 1 0 1
DDR2 0 0 1 0 1
DEPDC5 1 0 0 0 1
DHX16 0 1 0 0 1
DIP2B 0 0 1 0 1
DNM1 0 0 1 0 1
DPP6 0 0 1 0 1
DYNC1H1 0 0 1 0 1
EFTUD2 1 0 0 0 1
EHHADH 0 1 0 0 1
ENPP1 0 0 1 0 1
F13A1 0 0 1 0 1
FAM111A 0 0 1 0 1
FLNA 0 1 0 0 1
FLT4 0 0 1 0 1
GABRA1 1 0 0 0 1
GARS1 0 0 1 0 1
GATA5 0 1 0 0 1
GFAP 0 0 1 0 1
GJB1 0 1 0 0 1
GLI2 1 0 0 0 1
GLRA1 1 0 0 0 1
GPC3 0 1 0 0 1
GRIN1 0 1 0 0 1
HECW2 0 1 0 0 1
HNRNPU 0 1 0 0 1
IDS, LOC106050102 0 0 1 0 1
KAT6B 0 1 0 0 1
KCNE5 0 0 1 0 1
KDM6A 0 0 1 0 1
KIT 0 0 0 1 1
KRAS 1 0 0 0 1
LOC108281177, SOX2, SOX2-OT 1 0 0 0 1
LOC126806373, NEB 1 0 0 0 1
LOC126806428, TTN 1 0 0 0 1
LOC126859690, PKHD1 0 0 1 0 1
LOC126860131, RELN 0 0 1 0 1
LOC126861898, MYH7 0 1 0 0 1
LOC129998833, SLC25A13 1 0 0 0 1
LOC130006765, PTS 1 0 0 0 1
LRRC37A2, NSF 0 0 1 0 1
MAT1A 1 0 0 0 1
MEFV 0 0 1 0 1
MSTO1 0 0 1 0 1
MTMR14 0 0 1 0 1
MVP-DT, PRRT2 1 0 0 0 1
MYH9 0 0 1 0 1
MYPN 0 1 0 0 1
NEB, RIF1 1 0 0 0 1
NEK8 0 0 1 0 1
NFIX 1 0 0 0 1
NIPBL 0 0 1 0 1
NLRP12 0 0 1 0 1
NOTCH1 1 0 0 0 1
NOTCH3 1 0 0 0 1
NR3C2 0 0 1 0 1
NRAS 1 0 0 0 1
NSD1 0 1 0 0 1
OCRL 1 0 0 0 1
OGT 0 0 1 0 1
PBX1 0 1 0 0 1
PDHA1 0 0 1 0 1
PLCG2 0 0 1 0 1
POLR2A 0 0 1 0 1
POLR2F, SOX10 1 0 0 0 1
POLRMT 0 1 0 0 1
PPP3CA 0 1 0 0 1
PRSS1, TRB 1 0 0 0 1
PTS 1 0 0 0 1
RAF1 1 0 0 0 1
RBM10 0 0 1 0 1
RET 1 0 0 0 1
RNASEH2A 0 0 1 0 1
RP1L1 1 0 0 0 1
RYR1 1 0 0 0 1
SCN3A 0 0 1 0 1
SCN5A 0 1 0 0 1
SCN8A 0 0 1 0 1
SEPTIN9 0 0 1 0 1
SETBP1 0 1 0 0 1
SIX3 0 1 0 0 1
SLC25A4 1 0 0 0 1
SLC7A9 1 0 0 0 1
SLCO2A1 0 1 0 0 1
SOX17 0 0 1 0 1
SPTAN1 0 0 1 0 1
SPTBN2 0 1 0 0 1
STK11 1 0 0 0 1
TBX20 0 0 1 0 1
TBX5 0 0 1 0 1
TCF3 0 0 1 0 1
TCOF1 1 0 0 0 1
TET3 0 0 1 0 1
TLR8 0 1 0 0 1
TNFRSF13B 0 0 1 0 1
TNNC1 0 0 1 0 1
TRPC6 1 0 0 0 1
TRRAP 0 0 1 0 1
TSHR 0 0 1 0 1
TTC21B 0 0 1 0 1
TTN 1 0 0 0 1
TUBB1 0 0 1 0 1
WT1 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 236
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance drug response total
Neonatal intrahepatic cholestasis due to citrin deficiency 15 2 1 0 18
Polycystic kidney disease 4 1 2 8 0 11
Noonan syndrome 1 10 0 0 0 10
Severe myoclonic epilepsy in infancy 4 4 2 0 10
Cystic fibrosis 4 1 2 0 7
Developmental and epileptic encephalopathy, 7 4 2 1 0 7
Beta-thalassemia HBB/LCRB 5 0 0 0 5
Dubin-Johnson syndrome 1 1 3 0 5
Glycogen storage disease IXa1 1 2 2 0 5
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 2 2 0 5
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 0 4 0 4
Alagille syndrome due to a JAG1 point mutation 4 0 0 0 4
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 3 1 0 0 4
Charcot-Marie-Tooth disease axonal type 2S 1 2 1 0 4
Gilbert syndrome 0 1 3 0 4
Glycogen storage disease type III 2 1 1 0 4
Histiocytic medullary reticulosis 1 0 3 0 4
Nemaline myopathy 2 2 2 0 0 4
Thyroid dyshormonogenesis 6 3 0 1 0 4
Developmental and epileptic encephalopathy, 4 2 1 0 0 3
Dilated cardiomyopathy 1S 1 1 1 0 3
Familial hemophagocytic lymphohistiocytosis 3 1 1 1 0 3
Hereditary pancreatitis 1 1 1 0 3
Hereditary spherocytosis type 1 1 0 2 0 3
Hereditary spherocytosis type 2 2 1 0 0 3
Hypertrophic cardiomyopathy 2 0 2 1 0 3
Mucopolysaccharidosis, MPS-II 0 1 2 0 3
Neurofibromatosis, type 1 3 0 0 0 3
Tuberous sclerosis 2 2 0 1 0 3
3-Methylglutaconic aciduria type 2 0 1 1 0 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 1 1 0 0 2
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2 0 0 0 2
Actin accumulation myopathy 0 1 1 0 2
Acyl-CoA dehydrogenase 9 deficiency 0 2 0 0 2
Anemia, congenital dyserythropoietic, type IVb 2 0 0 0 2
Arthrogryposis, renal dysfunction, and cholestasis 1 1 0 1 0 2
Autoimmune lymphoproliferative syndrome type 2A 0 1 1 0 2
Bleeding disorder, platelet-type, 24 1 1 0 0 2
C syndrome 0 2 0 0 2
CHARGE syndrome 2 0 0 0 2
Cholestanol storage disease 1 0 1 0 2
Cholestasis, progressive familial intrahepatic, 12 2 0 0 0 2
Cholestasis, progressive familial intrahepatic, 4 1 1 0 0 2
Combined immunodeficiency due to LRBA deficiency 1 1 0 0 2
Combined oxidative phosphorylation defect type 15 0 2 0 0 2
Congenital afibrinogenemia 1 0 1 0 2
Cortisone reductase deficiency 1 0 0 2 0 2
Costello syndrome 2 0 0 0 2
Deficiency of butyryl-CoA dehydrogenase 0 0 2 0 2
Deficiency of hydroxymethylglutaryl-CoA lyase 0 1 1 0 2
Developmental and epileptic encephalopathy 99 2 0 0 0 2
Developmental and epileptic encephalopathy, 16 1 0 1 0 2
Developmental and epileptic encephalopathy, 35 1 0 1 0 2
Dilated cardiomyopathy 1G 2 0 0 0 2
Dilated cardiomyopathy 1Y 1 1 0 0 2
Duchenne muscular dystrophy 2 0 0 0 2
Familial X-linked hypophosphatemic vitamin D refractory rickets 1 1 0 0 2
Familial hypocalciuric hypercalcemia 1 0 2 0 0 2
Familial steroid-resistant nephrotic syndrome with sensorineural deafness 0 1 1 0 2
Galactosylceramide beta-galactosidase deficiency 0 2 0 0 2
Generalized epilepsy-paroxysmal dyskinesia syndrome 0 0 2 0 2
Glucose-6-phosphate transport defect 1 0 1 0 2
Glutaric aciduria, type 1 1 1 0 0 2
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 0 1 1 0 2
Glycogen storage disease, type VI 0 2 0 0 2
Hajdu-Cheney syndrome 1 0 1 0 2
Hereditary factor VIII deficiency disease 1 0 1 0 2
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 1 0 1 0 2
Hypercholesterolemia, familial, 1 1 1 0 0 2
Hyperekplexia 3 0 1 1 0 2
Hyperinsulinemic hypoglycemia, familial, 1 2 0 0 0 2
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 1 1 0 0 2
Imerslund-Grasbeck syndrome type 1 2 0 0 0 2
Immunodeficiency 95 0 0 2 0 2
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 1 1 0 0 2
Karyomegalic interstitial nephritis 0 0 2 0 2
Left ventricular noncompaction 10 1 1 0 0 2
MHC class II deficiency 1 2 0 0 0 2
MIRAGE syndrome 0 2 0 0 2
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 0 0 2 0 2
Mitochondrial DNA depletion syndrome 4b 1 0 1 0 2
Mitochondrial complex I deficiency, nuclear type 5 0 2 0 0 2
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 1 1 0 2
Muscular dystrophy, limb-girdle, autosomal recessive 23 0 0 2 0 2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 0 2 0 0 2
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 0 0 2 0 2
Niemann-Pick disease, type C1 1 0 1 0 2
Oculocerebrofacial syndrome, Kaufman type 1 1 0 0 2
Ornithine carbamoyltransferase deficiency 1 1 0 0 2
Osteogenesis imperfecta type 8 1 1 0 0 2
PMM2-congenital disorder of glycosylation 1 1 0 0 2
PULMONARY ALVEOLAR MICROLITHIASIS 0 2 0 0 2
Peroxisome biogenesis disorder 1A (Zellweger) 2 0 0 0 2
Pontocerebellar hypoplasia type 6 0 1 1 0 2
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 0 0 2 0 2
Progressive familial intrahepatic cholestasis type 2 0 0 2 0 2
Progressive familial intrahepatic cholestasis type 3 0 1 1 0 2
Progressive myoclonic epilepsy type 3 0 0 2 0 2
RFT1-congenital disorder of glycosylation 0 1 1 0 2
Renal carnitine transport defect 1 1 0 0 2
Renal-hepatic-pancreatic dysplasia 1 0 0 2 0 2
Rubinstein-Taybi syndrome due to CREBBP mutations 1 1 0 0 2
Sandhoff disease 0 1 1 0 2
Short stature-brachydactyly-obesity-global developmental delay syndrome 0 1 1 0 2
Sitosterolemia 1 0 1 1 0 2
Thrombophilia due to protein C deficiency, autosomal dominant 0 0 2 0 2
Tyrosinase-positive oculocutaneous albinism 0 1 1 0 2
Wilson disease 1 1 0 0 2
Wiskott-Aldrich syndrome 0 0 2 0 2
X-linked Alport syndrome 2 0 0 0 2
ACTB-associated syndromic thrombocytopenia 0 1 0 0 1
Achondroplasia 1 0 0 0 1
Acrocephalosyndactyly type I 1 0 0 0 1
Adams-Oliver syndrome 5 1 0 0 0 1
Adrenoleukodystrophy 1 0 0 0 1
Agammaglobulinemia 8, autosomal dominant 0 0 1 0 1
Aicardi-Goutieres syndrome 4 0 0 1 0 1
Alagille syndrome due to a NOTCH2 point mutation 0 0 1 0 1
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 1 0 0 1
Alexander disease 0 0 1 0 1
Amyotrophic neuralgia 0 0 1 0 1
Anophthalmia/microphthalmia-esophageal atresia syndrome 1 0 0 0 1
Atrial septal defect 4 0 0 1 0 1
Atypical hemolytic-uremic syndrome with C3 anomaly 0 0 1 0 1
Autosomal dominant Alport syndrome 0 0 1 0 1
Autosomal dominant centronuclear myopathy 0 0 1 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 0 1 0 1
Autosomal dominant distal renal tubular acidosis 0 0 1 0 1
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 0 1 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 4 0 1 0 0 1
Autosomal dominant pseudohypoaldosteronism type 1 0 0 1 0 1
Beck-Fahrner syndrome 0 0 1 0 1
Beckwith-Wiedemann syndrome 0 0 1 0 1
Brugada syndrome 0 0 1 0 1
Cardiofaciocutaneous syndrome 1 0 0 1 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 1 0 0 0 1
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2O 0 0 1 0 1
Charcot-Marie-Tooth disease type 2D 0 0 1 0 1
Combined oxidative phosphorylation deficiency 55 0 1 0 0 1
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 0 1 0 0 1
Congenital heart defects, multiple types, 5 0 1 0 0 1
Congenital heart defects, multiple types, 7 0 0 1 0 1
Congenital myasthenic syndrome 4A 1 0 0 0 1
Congenital myotonia, autosomal dominant form 1 0 0 0 1
Cornelia de Lange syndrome 1 0 0 1 0 1
Cystinuria 1 0 0 0 1
Dent disease type 1 1 0 0 0 1
Developmental and epileptic encephalopathy 91 0 1 0 0 1
Developmental and epileptic encephalopathy 96 0 0 1 0 1
Developmental and epileptic encephalopathy, 19 1 0 0 0 1
Developmental and epileptic encephalopathy, 2 1 0 0 0 1
Developmental and epileptic encephalopathy, 31A 0 0 1 0 1
Developmental and epileptic encephalopathy, 5 0 0 1 0 1
Developmental and epileptic encephalopathy, 54 0 1 0 0 1
Developmental and epileptic encephalopathy, 62 0 0 1 0 1
Developmental delay with or without dysmorphic facies and autism 0 0 1 0 1
Dilated cardiomyopathy 1E 0 1 0 0 1
Dilated cardiomyopathy 1II 0 1 0 0 1
Dilated cardiomyopathy 1KK 0 1 0 0 1
Dilated cardiomyopathy 1Z 0 0 1 0 1
Encephalopathy, acute, infection-induced, susceptibility to, 4 0 0 1 0 1
Epilepsy, familial focal, with variable foci 1 1 0 0 0 1
Familial Mediterranean fever, autosomal dominant 0 0 1 0 1
Familial cold autoinflammatory syndrome 2 0 0 1 0 1
Familial cold autoinflammatory syndrome 3 0 0 1 0 1
Familial gestational hyperthyroidism 0 0 1 0 1
Familial temporal lobe epilepsy 7 0 0 1 0 1
Fanconi renotubular syndrome 3 0 1 0 0 1
Focal segmental glomerulosclerosis 2 1 0 0 0 1
Genitopatellar syndrome 0 1 0 0 1
Hepatic methionine adenosyltransferase deficiency 1 0 0 0 1
Hereditary spherocytosis type 4 1 0 0 0 1
Holoprosencephaly 2 0 1 0 0 1
Holt-Oram syndrome 0 0 1 0 1
Hypercholesterolemia, autosomal dominant, type B 0 0 1 0 1
Hyperekplexia 1 1 0 0 0 1
Hypertrophic cardiomyopathy 1 1 0 0 0 1
Hypertrophic osteoarthropathy, primary, autosomal dominant 0 1 0 0 1
Hypopigmentation, organomegaly, and delayed myelination and development 0 0 1 0 1
Ichthyosis vulgaris 1 0 0 0 1
Imatinib response 0 0 0 1 1
Immunodeficiency 98 with autoinflammation, X-linked 0 1 0 0 1
Immunodeficiency, common variable, 2 0 0 1 0 1
Infantile convulsions and choreoathetosis 1 0 0 0 1
Intellectual disability, FRA12A type 0 0 1 0 1
Intellectual disability, X-linked 106 0 0 1 0 1
Intellectual disability, autosomal dominant 33 0 0 1 0 1
Kabuki syndrome 2 0 0 1 0 1
King Denborough syndrome 1 0 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 0 0 1 0 1
Lowe syndrome 1 0 0 0 1
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 0 0 1 0 1
Macrothrombocytopenia, isolated, 1, autosomal dominant 0 0 1 0 1
Malan overgrowth syndrome 1 0 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 1 0 0 0 1
Melnick-Needles syndrome 0 1 0 0 1
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant 1 0 0 0 1
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 0 0 1 0 1
Multiple endocrine neoplasia type 2A 1 0 0 0 1
Nephronophthisis 12 0 0 1 0 1
Nephrotic syndrome, type 4 0 0 1 0 1
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 0 1 0 1
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 1 0 0 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 1 0 0 1
Neuromuscular disease and ocular or auditory anomalies with or without seizures 0 1 0 0 1
Noonan syndrome 3 1 0 0 0 1
Noonan syndrome 5 1 0 0 0 1
Noonan syndrome 6 1 0 0 0 1
Occult macular dystrophy 1 0 0 0 1
Osteocraniostenosis 0 0 1 0 1
Osteogenesis imperfecta type III 1 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form 0 1 0 0 1
PCWH syndrome 1 0 0 0 1
Peutz-Jeghers syndrome 1 0 0 0 1
Pfeiffer syndrome 0 1 0 0 1
Polycystic kidney disease 8 0 0 1 0 1
Polyglandular autoimmune syndrome, type 1 1 0 0 0 1
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 1 0 0 0 1
Pulmonary hypertension, primary, 7 0 0 1 0 1
Pyruvate dehydrogenase E1-alpha deficiency 0 0 1 0 1
Schinzel-Giedion syndrome 0 1 0 0 1
See cases 0 1 0 0 1
Seizures, benign familial infantile, 5 0 0 1 0 1
Simpson-Golabi-Behmel syndrome type 1 0 1 0 0 1
Sotos syndrome 0 1 0 0 1
Spinocerebellar ataxia type 28 0 1 0 0 1
Spinocerebellar ataxia type 5 0 1 0 0 1
Stickler syndrome type 2 1 0 0 0 1
Symmetrical dyschromatosis of extremities 0 0 1 0 1
TARP syndrome 0 0 1 0 1
Thanatophoric dysplasia type 1 1 0 0 0 1
Thrombophilia due to thrombin defect 0 0 1 0 1
Treacher Collins syndrome 1 1 0 0 0 1
Type 2 diabetes mellitus 0 0 1 0 1
Warburg-cinotti syndrome 0 0 1 0 1

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