ClinVar Miner

Variants from Suma Genomics

Location: India  Primary collection method: clinical testing
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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
190 104 93 8 0 395

Gene and significance breakdown #

Total genes and gene combinations: 296
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
NF1 11 0 0 0 11
FBN1 5 2 1 0 8
CFTR 4 0 2 0 6
TTN 3 0 3 0 6
MECP2 4 1 0 0 5
BTD 2 1 1 0 4
ECEL1 0 2 2 0 4
FGFR3 4 0 0 0 4
GCDH 2 2 0 0 4
LIPA 1 2 1 0 4
RYR1 2 1 1 0 4
CEP290 2 0 1 0 3
GUCY2C 0 0 3 0 3
OBSL1 2 0 1 0 3
SCN1A 1 1 1 0 3
TSC2 3 0 0 0 3
ACADVL 1 0 1 0 2
ACTB 0 2 0 0 2
AMT 0 1 1 0 2
ARSA 1 1 0 0 2
ATM 0 2 0 0 2
ATP7B 1 1 0 0 2
BTK 2 0 0 0 2
CCN6 0 1 1 0 2
CDKL5 2 0 0 0 2
CLDN16 0 2 0 0 2
CNGA3 2 0 0 0 2
COL2A1 1 1 0 0 2
COL4A5 1 1 0 0 2
DUOX2 0 0 2 0 2
EBF3 1 1 0 0 2
ETFDH 1 1 0 0 2
FLAD1 1 1 0 0 2
FUZ, LOC105372435, LOC130064942 0 0 2 0 2
GAA 0 0 2 0 2
GALT 2 0 0 0 2
GATB 0 0 2 0 2
HBB, LOC106099062, LOC107133510 2 0 0 0 2
HEATR3 0 0 2 0 2
IGHMBP2 1 1 0 0 2
ITPR1 0 0 2 0 2
LAMA2 2 0 0 0 2
LMNA 0 2 0 0 2
MOCS2 2 0 0 0 2
MPL 1 0 1 0 2
MYH9 2 0 0 0 2
MYO1H 0 0 0 2 2
OPA3 1 0 1 0 2
OSGEP 0 2 0 0 2
POU1F1 0 1 1 0 2
TCN2 1 1 0 0 2
TMEM67 1 1 0 0 2
TRPV6 0 1 1 0 2
TUBA1A 1 1 0 0 2
UNC13D 1 1 0 0 2
VPS13D 0 0 2 0 2
ABCC9 0 1 0 0 1
ABCD1 1 0 0 0 1
ACER3 0 0 1 0 1
ACTA1 0 1 0 0 1
ACTC1, GJD2-DT 0 1 0 0 1
ACTG2 1 0 0 0 1
ADA2 1 0 0 0 1
ADAR 0 1 0 0 1
ADAR, LOC126805874 1 0 0 0 1
ADGRG1 1 0 0 0 1
ADNP 1 0 0 0 1
AGA 1 0 0 0 1
AGL 1 0 0 0 1
AHI1 1 0 0 0 1
ANAPC15, LRTOMT, TOMT 1 0 0 0 1
ANK1 1 0 0 0 1
APOB 0 0 1 0 1
ARID1B 1 0 0 0 1
ARL3 0 0 1 0 1
ARX 0 1 0 0 1
ASIC4, GMPPA 1 0 0 0 1
ASIC4, SPEG 0 0 1 0 1
ASL 1 0 0 0 1
ATP6V0A4 1 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 0 1 0 0 1
BBS10 1 0 0 0 1
BCKDHA 0 1 0 0 1
BCL11B 0 0 1 0 1
BMP1 0 1 0 0 1
BPTF 0 0 1 0 1
BRAF 1 0 0 0 1
C17orf107, CHRNE, MINK1 1 0 0 0 1
C1S 0 0 1 0 1
CA5A 0 1 0 0 1
CACNA1G 0 1 0 0 1
CAPN3 0 1 0 0 1
CARS1, LOC126861115 0 1 0 0 1
CASK 0 1 0 0 1
CASQ2 0 0 1 0 1
CBS 0 1 0 0 1
CC2D2A 0 1 0 0 1
CCDST, FLG 1 0 0 0 1
CELSR1 0 0 1 0 1
CHST14 1 0 0 0 1
CLCN4 0 1 0 0 1
CNKSR2 1 0 0 0 1
CNTNAP1 0 1 0 0 1
COASY 0 0 1 0 1
COG7, LOC130058658 1 0 0 0 1
COG8 0 1 0 0 1
COL11A1 1 0 0 0 1
COL1A1 1 0 0 0 1
COL1A2 1 0 0 0 1
COL25A1 0 1 0 0 1
COL27A1, LOC126860736 1 0 0 0 1
COL6A1 0 0 1 0 1
COL6A2 1 0 0 0 1
COL9A2 0 0 1 0 1
CPT1A 1 0 0 0 1
CREB3L1 0 1 0 0 1
CREBBP 1 0 0 0 1
CRLF1, LOC112543470 1 0 0 0 1
CRYAB 0 0 1 0 1
CTCF 0 1 0 0 1
CTLA4 0 1 0 0 1
CUL7 1 0 0 0 1
CYB5R3 1 0 0 0 1
CYP11B2, LOC106799834 0 0 1 0 1
CYP27B1 1 0 0 0 1
CYP4F22 0 1 0 0 1
DCX 1 0 0 0 1
DDX3X 0 1 0 0 1
DEGS1 0 0 1 0 1
DHX30 0 1 0 0 1
DIPK1A, RPL5 1 0 0 0 1
DMD 1 0 0 0 1
DNASE1L3 1 0 0 0 1
DNM1L 1 0 0 0 1
DVL1, LOC129929114 0 0 1 0 1
DYNC1H1 0 0 0 1 1
DYSF 1 0 0 0 1
EDA 1 0 0 0 1
EDAR, RANBP2 0 1 0 0 1
EFTUD2 0 1 0 0 1
ELN 0 0 1 0 1
EP300 0 0 1 0 1
EPCAM 1 0 0 0 1
ESR1, SYNE1 1 0 0 0 1
F10 1 0 0 0 1
F13A1 0 0 1 0 1
FANCG 1 0 0 0 1
FAS 0 1 0 0 1
FBXL4 0 1 0 0 1
FGFR2 1 0 0 0 1
FIG4 0 0 1 0 1
FKBP10 1 0 0 0 1
FKRP 0 1 0 0 1
FOXC1 1 0 0 0 1
FOXL2 1 0 0 0 1
FRAS1 1 0 0 0 1
FREM2 1 0 0 0 1
FTO 0 0 1 0 1
GABRB3 0 1 0 0 1
GALC 0 1 0 0 1
GALNS 0 1 0 0 1
GCM2 0 1 0 0 1
GDAP1 0 0 1 0 1
GFM2 0 0 1 0 1
GHR 0 1 0 0 1
GJB2 1 0 0 0 1
GLUD1 0 1 0 0 1
GNAT1 0 1 0 0 1
GNB5 1 0 0 0 1
GNPTG 1 0 0 0 1
GRHPR 1 0 0 0 1
GUCY2D 1 0 0 0 1
HPS3 0 0 1 0 1
HSD17B4 0 0 1 0 1
HUWE1 0 0 1 0 1
IBA57 0 1 0 0 1
IFIH1 1 0 0 0 1
IL2RG 1 0 0 0 1
INTU 0 0 1 0 1
INTU, LOC123480930 1 0 0 0 1
IQSEC2 1 0 0 0 1
KCNJ11 0 1 0 0 1
KCNT1 1 0 0 0 1
KIF5C 0 0 0 1 1
KIFBP, LOC130003959 1 0 0 0 1
KIT 0 1 0 0 1
KLHL40 0 0 1 0 1
KLHL7 1 0 0 0 1
KMT2A 0 1 0 0 1
KMT2D 0 0 1 0 1
LAMA1 1 0 0 0 1
LDLR 1 0 0 0 1
LIFR 1 0 0 0 1
LIPH 0 0 1 0 1
LMX1B 0 1 0 0 1
LOC102724058, SCN1A 0 0 1 0 1
LOC126859690, PKHD1 0 1 0 0 1
LOC126861106, TUBGCP2 0 0 1 0 1
LOC130009585, UFM1 1 0 0 0 1
LOC130059891, SERPINF1 0 0 1 0 1
LPL 0 1 0 0 1
LRRK1 1 0 0 0 1
MACF1 0 1 0 0 1
MAN2B1 1 0 0 0 1
MATN3 0 0 1 0 1
MCOLN1 1 0 0 0 1
MED12 1 0 0 0 1
MED13 0 0 1 0 1
METTL5 0 0 1 0 1
MMACHC 1 0 0 0 1
MMUT 0 1 0 0 1
MPDU1 0 0 1 0 1
MTM1 0 1 0 0 1
MYBPC1 0 0 1 0 1
MYH3 0 0 1 0 1
NAXE 1 0 0 0 1
NDUFAF5 0 1 0 0 1
NEB 0 1 0 0 1
NFIX 1 0 0 0 1
NIPBL 1 0 0 0 1
NPNT 0 1 0 0 1
NR3C2 1 0 0 0 1
OAS1 0 0 1 0 1
PDHA1 1 0 0 0 1
PHF6 1 0 0 0 1
PIEZO2 0 0 1 0 1
PLA2G6 1 0 0 0 1
PLP1, RAB9B 1 0 0 0 1
POLR3B 1 0 0 0 1
PPP3CA 0 1 0 0 1
PPT1 0 1 0 0 1
PTCH1 1 0 0 0 1
PTPN11 1 0 0 0 1
PYCR2 0 0 1 0 1
PYGL 1 0 0 0 1
RANBP2 0 1 0 0 1
RAPSN 0 0 1 0 1
REEP1 1 0 0 0 1
RET 1 0 0 0 1
ROR2 1 0 0 0 1
RPL13 0 0 1 0 1
RPS6KA3 0 0 1 0 1
RRM2B 0 1 0 0 1
RS1 0 0 1 0 1
SBDS 1 0 0 0 1
SCN2A 0 0 0 1 1
SCNN1B 1 0 0 0 1
SETX 0 1 0 0 1
SGPL1 1 0 0 0 1
SIGMAR1 0 0 1 0 1
SIN3A 1 0 0 0 1
SLC12A3 1 0 0 0 1
SLC13A5 0 1 0 0 1
SLC26A5 1 0 0 0 1
SLC5A6 0 1 0 0 1
SLC6A8 0 0 1 0 1
SLC6A9 0 1 0 0 1
SMARCB1 0 1 0 0 1
SOX18 0 0 0 1 1
SOX5 0 0 0 1 1
SOX9 1 0 0 0 1
SPAST 0 1 0 0 1
SRD5A3 1 0 0 0 1
SRRM2 1 0 0 0 1
STXBP1 1 0 0 0 1
TBCD 1 0 0 0 1
TBL1XR1 0 1 0 0 1
TBXAS1 0 0 1 0 1
TCF4 1 0 0 0 1
TDRD7 1 0 0 0 1
TH 0 1 0 0 1
TNFRSF13B 0 0 1 0 1
TNFRSF1A 0 1 0 0 1
TOGARAM1 1 0 0 0 1
TOR1A 0 0 0 1 1
TP53 1 0 0 0 1
TP63 0 0 1 0 1
TPI1 0 0 1 0 1
TPM2 1 0 0 0 1
TPM3 1 0 0 0 1
TPP1 0 1 0 0 1
TPRKB 0 0 1 0 1
TRIO 1 0 0 0 1
TRIP11 1 0 0 0 1
TTC8 1 0 0 0 1
TUBB4A 0 1 0 0 1
TUBG1 1 0 0 0 1
TWNK 1 0 0 0 1
UBE3B 0 1 0 0 1
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 1 0 0 0 1
UNC50 0 0 1 0 1
WAC 1 0 0 0 1
WDR37 1 0 0 0 1
WWOX 0 0 1 0 1
XPC 1 0 0 0 1
ZEB2 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 312
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Neurofibromatosis, type 1 10 0 0 0 10
Cystic fibrosis 3 0 2 0 5
Marfan syndrome 3 2 0 0 5
Biotinidase deficiency 2 1 1 0 4
Distal arthrogryposis type 5D 0 2 2 0 4
Glutaric aciduria, type 1 2 2 0 0 4
Rett syndrome 4 0 0 0 4
not provided 1 0 3 0 4
3M syndrome 2 2 0 1 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2J; Early-onset myopathy with fatal cardiomyopathy 0 0 3 0 3
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 0 0 3 0 3
Lysosomal acid lipase deficiency 1 1 1 0 3
Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2 0 1 0 3
Tuberous sclerosis 2 3 0 0 0 3
3-Methylglutaconic aciduria type 3 1 0 1 0 2
Achromatopsia 2 2 0 0 0 2
Aicardi-Goutieres syndrome 6 1 1 0 0 2
Arthrogryposis 0 2 0 0 2
Ataxia-telangiectasia syndrome 0 2 0 0 2
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 0 0 2 0 2
Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 1 1 0 0 2
COG7 congenital disorder of glycosylation 2 0 0 0 2
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia 0 1 1 0 2
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction 0 0 0 2 2
Combined oxidative phosphorylation deficiency 41 0 0 2 0 2
Congenital amegakaryocytic thrombocytopenia 1 0 1 0 2
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 2 0 0 0 2
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2 0 0 0 2
Developmental and epileptic encephalopathy, 2 2 0 0 0 2
Diamond-Blackfan anemia 21 0 0 2 0 2
Early-onset myopathy with fatal cardiomyopathy 2 0 0 0 2
Familial hemophagocytic lymphohistiocytosis 3 1 1 0 0 2
Galloway-Mowat syndrome 3 0 2 0 0 2
Glycine encephalopathy 0 1 1 0 2
Glycogen storage disease, type II 0 0 2 0 2
Hyperparathyroidism, transient neonatal 0 1 1 0 2
Hypotonia, ataxia, and delayed development syndrome 1 1 0 0 2
Joubert syndrome 6 1 1 0 0 2
Lissencephaly due to TUBA1A mutation 1 1 0 0 2
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 2 0 0 0 2
Merosin deficient congenital muscular dystrophy 2 0 0 0 2
Metachromatic leukodystrophy 1 1 0 0 2
Multiple acyl-CoA dehydrogenase deficiency 1 1 0 0 2
Myopathy with abnormal lipid metabolism 1 1 0 0 2
Pituitary hormone deficiency, combined, 1 0 1 1 0 2
Primary hypomagnesemia 0 2 0 0 2
Progressive pseudorheumatoid dysplasia 0 1 1 0 2
See cases 0 0 2 0 2
Short-rib thoracic dysplasia 20 with polydactyly; Orofaciodigital syndrome 17 1 0 1 0 2
Spinocerebellar ataxia type 29; Spinocerebellar ataxia type 15/16; Gillespie syndrome 0 0 2 0 2
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 2 0 0 0 2
Thyroid dyshormonogenesis 6 0 0 2 0 2
Transcobalamin II deficiency 1 1 0 0 2
Very long chain acyl-CoA dehydrogenase deficiency 1 0 1 0 2
Wilson disease 1 1 0 0 2
X-linked Alport syndrome 1 1 0 0 2
X-linked agammaglobulinemia 2 0 0 0 2
3M syndrome 1 1 0 0 0 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 1 0 0 0 1
Achondrogenesis, type IA 1 0 0 0 1
Achondroplasia 1 0 0 0 1
Acrocephalosyndactyly type I 1 0 0 0 1
Adrenocortical carcinoma, hereditary; Glioma susceptibility 1; Li-Fraumeni syndrome 1; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Colorectal cancer; Bone marrow failure syndrome 5 1 0 0 0 1
Adrenoleukodystrophy 1 0 0 0 1
Aicardi-Goutieres syndrome 1 0 1 0 0 1
Aicardi-Goutieres syndrome 7 1 0 0 0 1
Alacrima, achalasia, and intellectual disability syndrome 1 0 0 0 1
Alkaline ceramidase 3 deficiency 0 0 1 0 1
Amyotrophic lateral sclerosis type 4 0 1 0 0 1
Argininosuccinate lyase deficiency 1 0 0 0 1
Arthrogryposis multiplex congenita 0 0 1 0 1
Arthrogryposis multiplex congenita 3, myogenic type 1 0 0 0 1
Arthrogryposis multiplex congenita 6 0 1 0 0 1
Arthrogryposis, distal, type 1A 1 0 0 0 1
Arthrogryposis, distal, type 1B 0 0 1 0 1
Arthrogryposis, distal, type 2B3 0 0 1 0 1
Aspartylglucosaminuria 1 0 0 0 1
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 1 0 0 0 1
Atypical glycine encephalopathy 0 1 0 0 1
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 0 1 0 0 1
Autoimmune lymphoproliferative syndrome type 1 0 1 0 0 1
Autosomal dominant Robinow syndrome 2 0 0 1 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 0 0 0 1 1
Autosomal dominant pseudohypoaldosteronism type 1 1 0 0 0 1
Autosomal recessive DOPA responsive dystonia 0 1 0 0 1
Autosomal recessive Robinow syndrome 1 0 0 0 1
Autosomal recessive congenital ichthyosis 5 0 1 0 0 1
Autosomal recessive distal spinal muscular atrophy 2; Amyotrophic lateral sclerosis type 16 0 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2A 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 1A 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 61 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 63 1 0 0 0 1
Autosomal systemic lupus erythematosus type 16 1 0 0 0 1
Axenfeld-Rieger syndrome type 3 1 0 0 0 1
Baraitser-Winter syndrome 1 0 1 0 0 1
Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome 0 1 0 0 1
Bardet-Biedl syndrome 10 1 0 0 0 1
Beta-thalassemia HBB/LCRB 1 0 0 0 1
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Myosclerosis 1 0 0 0 1
Bifunctional peroxisomal enzyme deficiency 0 0 1 0 1
Bilateral frontoparietal polymicrogyria 1 0 0 0 1
Bilateral renal agenesis 0 1 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus syndrome 1 0 0 0 1
Borjeson-Forssman-Lehmann syndrome 1 0 0 0 1
COG8-congenital disorder of glycosylation 0 1 0 0 1
CTCF-related neurodevelopmental disorder 0 1 0 0 1
Camptomelic dysplasia 1 0 0 0 1
Cardiofaciocutaneous syndrome 1 1 0 0 0 1
Carnitine palmitoyl transferase 1A deficiency 1 0 0 0 1
Cataract 36 1 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 2 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2K 0 0 1 0 1
Cholestasis-pigmentary retinopathy-cleft palate syndrome 1 0 0 0 1
Classic homocystinuria 0 1 0 0 1
Cobalamin C disease 1 0 0 0 1
Coffin-Lowry syndrome 0 0 1 0 1
Coffin-Siris syndrome 1 1 0 0 0 1
Cold-induced sweating syndrome 1 1 0 0 0 1
Combined oxidative phosphorylation deficiency 39 0 0 1 0 1
Complement component C1s deficiency; Ehlers-Danlos syndrome, periodontal type 2 0 0 1 0 1
Complex cortical dysplasia with other brain malformations 2 0 0 0 1 1
Complex cortical dysplasia with other brain malformations 4 1 0 0 0 1
Cone-rod dystrophy 6 1 0 0 0 1
Congenital diarrhea 5 with tufting enteropathy 1 0 0 0 1
Congenital multicore myopathy with external ophthalmoplegia 1 0 0 0 1
Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B 1 0 0 0 1
Congenital myopathy 2c, severe infantile, autosomal dominant 0 1 0 0 1
Congenital myopathy 4A, autosomal dominant 1 0 0 0 1
Congenital stationary night blindness 1G 0 1 0 0 1
Cornelia de Lange syndrome 1 1 0 0 0 1
Creatine transporter deficiency 0 0 1 0 1
Crigler-Najjar syndrome type 1; Lucey-Driscoll syndrome; Crigler-Najjar syndrome, type II; Gilbert syndrome 1 0 0 0 1
Cutis laxa, autosomal dominant 1; Supravalvar aortic stenosis 0 0 1 0 1
DeSanto-Shinawi syndrome due to WAC point mutation 1 0 0 0 1
Deficiency of adenosine deaminase 2 1 0 0 0 1
Deficiency of alpha-mannosidase 1 0 0 0 1
Deficiency of cytochrome-b5 reductase 1 0 0 0 1
Developmental and epileptic encephalopathy 6B 0 0 1 0 1
Developmental and epileptic encephalopathy 91; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 0 1 0 0 1
Developmental and epileptic encephalopathy, 11 0 0 0 1 1
Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 1 0 0 0 1
Developmental and epileptic encephalopathy, 25 0 1 0 0 1
Developmental and epileptic encephalopathy, 28 0 0 1 0 1
Developmental and epileptic encephalopathy, 4 1 0 0 0 1
Developmental and epileptic encephalopathy, 43 0 1 0 0 1
Diabetes mellitus, transient neonatal, 3 0 1 0 0 1
Diamond-Blackfan anemia 6 1 0 0 0 1
Dilated cardiomyopathy 1G 1 0 0 0 1
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Congenital muscular dystrophy due to LMNA mutation 0 1 0 0 1
Duchenne muscular dystrophy 1 0 0 0 1
Early-onset generalized limb-onset dystonia; Arthrogryposis multiplex congenita 5 0 0 0 1 1
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 1 0 0 0 1
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 0 1 0 0 1
Ectopia lentis 1, isolated, autosomal dominant 1 0 0 0 1
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 0 0 1 0 1
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 0 0 1 0 1
Ehlers-Danlos syndrome, musculocontractural type 1 1 0 0 0 1
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 1 0 0 0 1
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 1 0 0 0 1
Epiphyseal dysplasia, multiple, 2 0 0 1 0 1
Factor XIII, A subunit, deficiency of 0 0 1 0 1
Familial acute necrotizing encephalopathy 0 1 0 0 1
Familial hypobetalipoproteinemia 1 0 0 1 0 1
Familial hypokalemia-hypomagnesemia 1 0 0 0 1
Fanconi anemia complementation group G 1 0 0 0 1
Fatal infantile hypertonic myofibrillar myopathy 0 0 1 0 1
Fetal akinesia deformation sequence 2 0 0 1 0 1
Fraser syndrome 1 1 0 0 0 1
Fraser syndrome 2 1 0 0 0 1
GNPTG-mucolipidosis 1 0 0 0 1
Galactosylceramide beta-galactosidase deficiency 0 1 0 0 1
Galloway-Mowat syndrome 5 0 0 1 0 1
Gastrointestinal stromal tumor; Piebaldism; Cutaneous mastocytosis 0 1 0 0 1
Geleophysic dysplasia 2 1 0 0 0 1
Generalized epilepsy with febrile seizures plus, type 2 0 0 1 0 1
Ghosal hematodiaphyseal dysplasia 0 0 1 0 1
Glycogen storage disease type III 1 0 0 0 1
Glycogen storage disease, type VI 1 0 0 0 1
Gnb5-related intellectual disability-cardiac arrhythmia syndrome; Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia 1 0 0 0 1
Goldberg-Shprintzen syndrome 1 0 0 0 1
Gorlin syndrome; Holoprosencephaly 7 1 0 0 0 1
Hereditary factor X deficiency disease 1 0 0 0 1
Hereditary spastic paraplegia 31; Neuronopathy, distal hereditary motor, type 5B 1 0 0 0 1
Hereditary spastic paraplegia 4 0 1 0 0 1
Hereditary spherocytosis type 1 1 0 0 0 1
Hermansky-Pudlak syndrome 3 0 0 1 0 1
Hutchinson-Gilford syndrome 0 1 0 0 1
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 0 1 0 0 1
Hypercholesterolemia, familial, 1 1 0 0 0 1
Hyperinsulinism-hyperammonemia syndrome 0 1 0 0 1
Hyperlipoproteinemia, type I 0 1 0 0 1
Hyperparathyroidism 4; Hypoparathyroidism, familial isolated, 2 0 1 0 0 1
Hypertrichotic osteochondrodysplasia Cantu type 0 1 0 0 1
Hypohidrotic X-linked ectodermal dysplasia 1 0 0 0 1
Hypomyelinating leukodystrophy 10 0 0 1 0 1
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1 0 0 0 1
Hypotrichosis 7 0 0 1 0 1
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 0 0 0 1 1
Ichthyosis vulgaris 1 0 0 0 1
Immunodeficiency, common variable, 2 0 0 1 0 1
Intellectual developmental disorder 61 0 0 1 0 1
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 72 1 0 0 0 1
Intellectual developmental disorder, autosomal recessive 72 0 0 1 0 1
Intellectual disability, X-linked 1 1 0 0 0 1
Intellectual disability, X-linked 102 0 1 0 0 1
Intellectual disability, X-linked 49 0 1 0 0 1
Intellectual disability, X-linked syndromic, Turner type 0 0 1 0 1
Intellectual disability, X-linked, syndromic, Houge type 1 0 0 0 1
Intellectual disability, autosomal dominant 15 0 1 0 0 1
Intellectual disability, autosomal dominant 41 0 1 0 0 1
Joubert syndrome 3 1 0 0 0 1
Joubert syndrome 35 0 0 1 0 1
Joubert syndrome 37 1 0 0 0 1
Joubert syndrome 9 0 1 0 0 1
Juvenile retinoschisis 0 0 1 0 1
Kabuki syndrome 1 0 0 1 0 1
Lamb-Shaffer syndrome 0 0 0 1 1
Laron-type isolated somatotropin defect 0 1 0 0 1
Lethal polymalformative syndrome, Boissel type 0 0 1 0 1
Leukodystrophy, hypomyelinating, 14 1 0 0 0 1
Leukodystrophy, hypomyelinating, 18 0 0 1 0 1
Lissencephaly 9 with complex brainstem malformation 0 1 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 1 0 0 0 1
Lymphatic malformation 9 0 0 1 0 1
MPDU1-congenital disorder of glycosylation 0 0 1 0 1
Mandibulofacial dysostosis-microcephaly syndrome 0 1 0 0 1
Maple syrup urine disease 0 1 0 0 1
Marshall-Smith syndrome; Malan overgrowth syndrome 1 0 0 0 1
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 0 1 0 0 1
Microcephaly, developmental delay, and brittle hair syndrome 0 1 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 1 0 0 0 1
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 1 0 0 0 1
Mitochondrial DNA depletion syndrome 13 0 1 0 0 1
Mitochondrial DNA depletion syndrome 8a; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction 0 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 16 0 1 0 0 1
Miyoshi muscular dystrophy 1 1 0 0 0 1
Mowat-Wilson syndrome 1 0 0 0 1
Mucolipidosis type IV 1 0 0 0 1
Mucopolysaccharidosis, MPS-IV-A 0 1 0 0 1
Muenke syndrome 1 0 0 0 1
Multiple endocrine neoplasia type 2B 1 0 0 0 1
Multiple epiphyseal dysplasia type 5 0 0 1 0 1
Multiple mitochondrial dysfunctions syndrome 3; Hereditary spastic paraplegia 74 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 0 1 0 0 1
Myopathy, centronuclear, 5 0 0 1 0 1
Nail-patella syndrome 0 1 0 0 1
Nemaline myopathy 8 0 0 1 0 1
Nephrotic syndrome 14 1 0 0 0 1
Neurodegeneration with brain iron accumulation 2B 1 0 0 0 1
Neurodegeneration, infantile-onset, biotin-responsive 0 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 0 1 0 1
Neurodevelopmental disorder with severe motor impairment and absent language 0 1 0 0 1
Neurofibromatosis-Noonan syndrome 1 0 0 0 1
Neuronal ceroid lipofuscinosis 1 0 1 0 0 1
Neuronal ceroid lipofuscinosis 2 0 1 0 0 1
Neurooculocardiogenitourinary syndrome 1 0 0 0 1
Neuropathy, congenital hypomyelinating, 3 0 1 0 0 1
Noonan syndrome 1; Metachondromatosis; LEOPARD syndrome 1 1 0 0 0 1
Oculocerebrofacial syndrome, Kaufman type 0 1 0 0 1
Osteogenesis imperfecta type 11 1 0 0 0 1
Osteogenesis imperfecta type 13 0 1 0 0 1
Osteogenesis imperfecta type 16 0 1 0 0 1
Osteogenesis imperfecta type 6 0 0 1 0 1
Osteogenesis imperfecta type I 1 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Osteoporosis; Ehlers-Danlos syndrome, arthrochalasia type, 2; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 1 0 0 0 1
Osteosclerotic metaphyseal dysplasia 1 0 0 0 1
PERCHING syndrome 1 0 0 0 1
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 0 0 1 0 1
Pelizaeus-Merzbacher disease 1 0 0 0 1
Peripheral motor neuropathy, childhood-onset, biotin-responsive 0 1 0 0 1
Pitt-Hopkins syndrome 1 0 0 0 1
Polycystic kidney disease 4 0 1 0 0 1
Pontocerebellar hypoplasia, type 12 0 0 1 0 1
Primary hyperoxaluria, type II 1 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 1 0 0 0 1
Pseudohypoaldosteronism, type IB1, autosomal recessive 1 0 0 0 1
Pulmonary alveolar proteinosis with hypogammaglobulinemia 0 0 1 0 1
Pyruvate dehydrogenase E1-alpha deficiency 1 0 0 0 1
RYR1-related disorder 1 0 0 0 1
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 1 0 0 0 1
Retinitis pigmentosa 51; Bardet-Biedl syndrome 8 1 0 0 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 1 0 0 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Menke-Hennekam syndrome 2 0 0 1 0 1
SIN3A-related intellectual disability syndrome due to a point mutation 1 0 0 0 1
SRD5A3-congenital disorder of glycosylation 1 0 0 0 1
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9 0 0 0 1 1
Severe X-linked myotubular myopathy 0 1 0 0 1
Severe myoclonic epilepsy in infancy 0 1 0 0 1
Shwachman-Diamond syndrome 1 1 0 0 0 1
Spinocerebellar ataxia type 42 0 1 0 0 1
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type 0 0 1 0 1
Spondyloepiphyseal dysplasia congenita 0 1 0 0 1
Steel syndrome 1 0 0 0 1
Stickler syndrome type 2 1 0 0 0 1
Stüve-Wiedemann syndrome 1 1 0 0 0 1
Syndromic X-linked intellectual disability Najm type 0 1 0 0 1
TNF receptor-associated periodic fever syndrome (TRAPS) 0 1 0 0 1
Thanatophoric dysplasia type 1 1 0 0 0 1
Thanatophoric dysplasia, type 2 1 0 0 0 1
Torsion dystonia 4; Hypomyelinating leukodystrophy 6 0 1 0 0 1
Triosephosphate isomerase deficiency 0 0 1 0 1
Visceral myopathy 1; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 1 0 0 0 1
Vitamin D-dependent rickets, type 1A 1 0 0 0 1
Wiedemann-Steiner syndrome 0 1 0 0 1
Wolman disease 0 1 0 0 1
X-linked intellectual disability-psychosis-macroorchidism syndrome 0 1 0 0 1
X-linked lissencephaly with abnormal genitalia 0 1 0 0 1
X-linked severe combined immunodeficiency 1 0 0 0 1
Xeroderma pigmentosum, group C 1 0 0 0 1
Yunis-Varon syndrome 0 0 1 0 1
beta Thalassemia 1 0 0 0 1

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