ClinVar Miner

Variants from Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

Location: India  Primary collection method: clinical testing
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 association total
76 151 214 0 0 1 442

Gene and significance breakdown #

Total genes and gene combinations: 358
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance association total
GNE 0 2 3 0 5
DMD 3 1 0 0 4
SCN1A 2 1 1 0 4
ABCC8 1 1 1 0 3
CACNA1G 0 0 3 0 3
COL7A1 0 2 1 0 3
DYSF 3 0 0 0 3
FKRP 0 0 3 0 3
LRBA 0 1 2 0 3
MYBPC3 0 1 2 0 3
PKD1 2 1 0 0 3
PKHD1 0 0 3 0 3
RYR2 0 0 3 0 3
SAMD9 0 1 2 0 3
TRPM6 2 1 0 0 3
TTN 0 1 2 0 3
ALDH3A2 1 0 1 0 2
ANK1 0 1 1 0 2
AP5Z1 0 0 2 0 2
ASAH1 0 2 0 0 2
ATP13A2 0 1 1 0 2
ATP8B1 0 0 2 0 2
AVIL 0 0 2 0 2
CACNA1A 0 0 2 0 2
CDH1 0 0 2 0 2
CFTR 0 1 1 0 2
CLN6 0 2 0 0 2
DOCK7 0 0 2 0 2
DOCK8 0 0 2 0 2
EDNRB 0 0 2 0 2
EPRS1 0 0 2 0 2
EXT1 2 0 0 0 2
F7 1 1 0 0 2
FHOD3 0 0 2 0 2
FPGT-TNNI3K, TNNI3K 0 1 1 0 2
GABBR2 0 1 1 0 2
GFM1 0 0 2 0 2
GUCY2C 0 2 0 0 2
HPS1 1 1 0 0 2
HSD17B4 0 0 2 0 2
HYDIN 0 2 0 0 2
KCNN2 0 0 2 0 2
LDB3 0 0 2 0 2
LMAN1 1 0 1 0 2
LOC102724058, SCN1A 1 1 0 0 2
LOC126861897, MHRT, MYH7 0 0 2 0 2
MYO15A 1 0 1 0 2
NCR1, NLRP7 0 1 1 0 2
PCYT2 0 0 2 0 2
PKLR 0 1 1 0 2
PLAA 0 1 1 0 2
PLEC 0 2 0 0 2
RPGR 0 2 0 0 2
SETX 1 1 0 0 2
SGCG 1 1 0 0 2
SH3TC2 0 0 2 0 2
SLC16A2 1 1 0 0 2
SNHG14, UBE3A 0 2 0 0 2
SPTBN2 0 1 1 0 2
SRD5A2 2 0 0 0 2
STK36 0 0 2 0 2
SZT2 0 0 2 0 2
TCIRG1 1 1 0 0 2
TYK2 0 0 2 0 2
ABCA12, SNHG31 0 0 1 0 1
ABCD1 1 0 0 0 1
ABL1 0 0 1 0 1
ACOX1 1 0 0 0 1
ACTN2 1 0 0 0 1
ADGRG1 0 0 1 0 1
ADGRV1 0 0 1 0 1
ADPRS 0 1 0 0 1
AFG2B 0 0 1 0 1
AFG3L2 0 1 0 0 1
AGTPBP1 0 1 0 0 1
ALG13 0 0 1 0 1
ALOX12B 0 0 1 0 1
ALOXE3, LOC126862485 0 0 1 0 1
ALPL 0 0 1 0 1
ANK3 0 0 1 0 1
ARHGEF10 0 0 1 0 1
ARX, LOC109610631 0 0 1 0 1
ASPH 1 0 0 0 1
ASS1 0 1 0 0 1
ASXL1 0 0 1 0 1
ATM 0 1 0 0 1
ATP1A3 0 0 1 0 1
ATP6V0A4 1 0 0 0 1
ATP6V1A 0 0 1 0 1
ATP7B 0 1 0 0 1
B3GALT6 0 0 1 0 1
BBS9 0 1 0 0 1
BEST1 0 0 1 0 1
C14orf39, SIX6 0 1 0 0 1
C17orf107, CHRNE 0 0 1 0 1
CA1 0 0 1 0 1
CAD 0 0 1 0 1
CAPN1 1 0 0 0 1
CAPN3 0 0 1 0 1
CASD1, SGCE 1 0 0 0 1
CASQ1 0 1 0 0 1
CATIP, PNKD 0 0 1 0 1
CDK10 1 0 0 0 1
CDKL5 0 1 0 0 1
CELF2 0 0 1 0 1
CENPF 0 0 1 0 1
CEP290 0 0 1 0 1
CFH 0 1 0 0 1
CFTR, LOC111674472 1 0 0 0 1
CHD4 0 1 0 0 1
CHD7 0 1 0 0 1
CHFR 0 1 0 0 1
CHKB, CHKB-CPT1B 0 0 1 0 1
CHRNA1 0 0 1 0 1
CHRNA4 0 1 0 0 1
CHRNB2 0 0 1 0 1
CLCN1 0 1 0 0 1
CLCN7 0 1 0 0 1
CLDN10 0 0 1 0 1
CNGB1 0 0 1 0 1
CNTN6 0 1 0 0 1
COL11A1 0 1 0 0 1
COL18A1 0 0 1 0 1
COL27A1 0 1 0 0 1
COL6A2 1 0 0 0 1
COL6A3, LOC122889011 1 0 0 0 1
CPT2 0 0 1 0 1
CR1 0 0 1 0 1
CREBBP 0 0 1 0 1
CSF1R 1 0 0 0 1
CTNNA3 0 1 0 0 1
CTNS 0 1 0 0 1
CTSK 0 0 1 0 1
CUL7 0 1 0 0 1
CYP27A1 0 1 0 0 1
CYP27B1 0 0 1 0 1
DBT 0 1 0 0 1
DES 0 0 1 0 1
DGKE 0 1 0 0 1
DHODH 0 0 1 0 1
DHX37 0 0 1 0 1
DKC1 0 1 0 0 1
DLL4 0 1 0 0 1
DNAH14 0 1 0 0 1
DNAJB6 0 1 0 0 1
DNAJC6 0 1 0 0 1
DNM2 0 0 1 0 1
DOK7 1 0 0 0 1
DPH2 0 0 1 0 1
DPH2, LOC126805726 0 1 0 0 1
DRP2 0 0 1 0 1
DSC2 0 1 0 0 1
EFNB1 1 0 0 0 1
EIF2B3 0 1 0 0 1
EPCAM 0 0 1 0 1
ERCC2 0 1 0 0 1
ERCC6 0 1 0 0 1
ERCC6, ERCC6-PGBD3 1 0 0 0 1
ERMARD 0 1 0 0 1
EYA1 0 1 0 0 1
F13A1 0 1 0 0 1
FA2H 0 1 0 0 1
FBLN5 1 0 0 0 1
FBN1 1 0 0 0 1
FERMT1 1 0 0 0 1
FGFR3 0 0 1 0 1
FH 0 1 0 0 1
FIG4 0 1 0 0 1
FLCN 0 0 1 0 1
FLNB 0 0 1 0 1
FLNC 0 1 0 0 1
FOXG1 1 0 0 0 1
FUZ 0 0 0 1 1
GABRA1 0 0 1 0 1
GABRB2 0 0 1 0 1
GALK1, ITGB4 0 0 1 0 1
GANAB 0 1 0 0 1
GBA1, LOC106627981 0 0 1 0 1
GBA2 0 1 0 0 1
GHR 0 0 1 0 1
GJB1 0 1 0 0 1
GLUD1 0 1 0 0 1
GORAB 0 1 0 0 1
GPT2 0 0 1 0 1
GRIA4 0 0 1 0 1
GRM1 0 0 1 0 1
GUCA1A, GUCA1ANB-GUCA1A 0 0 1 0 1
GUSB 0 1 0 0 1
HADHB 0 0 1 0 1
HCFC1 0 0 1 0 1
HGF 0 0 1 0 1
HGSNAT 0 1 0 0 1
HMMR 0 0 1 0 1
HNF1B 0 0 1 0 1
HOXD13 0 0 1 0 1
HPDL 0 0 1 0 1
HPS4 0 1 0 0 1
HTRA1 0 1 0 0 1
IFIH1 0 0 1 0 1
IGF2R 0 0 1 0 1
IGF2R, LOC129997612 0 0 1 0 1
IHH 0 0 1 0 1
IRF6 1 0 0 0 1
ITPR1 0 0 1 0 1
JAG1 1 0 0 0 1
KARS1 0 0 1 0 1
KARS1, LOC126862402 0 0 1 0 1
KCNJ1 0 1 0 0 1
KCNJ10 0 1 0 0 1
KCNJ11 0 1 0 0 1
KCNQ2 0 0 1 0 1
KDM5C 0 0 1 0 1
KIF1B 0 0 1 0 1
KIF1C 0 1 0 0 1
KMT2C 0 0 1 0 1
LAMA1 1 0 0 0 1
LAMA2 1 0 0 0 1
LAMA3 1 0 0 0 1
LIPT1, MITD1 0 0 1 0 1
LMNA, LOC129931597 0 0 1 0 1
LNPK 0 0 1 0 1
LOC107648851, TAP2 0 0 1 0 1
LOC130004109, VCL 0 0 1 0 1
LOC130055387, NRL 0 1 0 0 1
LOC130061900, SGSH 1 0 0 0 1
LPAR6, RB1 1 0 0 0 1
LRAT 0 0 1 0 1
LRP5 0 0 1 0 1
LTBP4 0 0 1 0 1
LYST 1 0 0 0 1
MADD 0 0 1 0 1
MAP3K1 0 0 1 0 1
MAP3K7 0 1 0 0 1
MATN3 0 0 1 0 1
MC1R 1 0 0 0 1
MC2R 1 0 0 0 1
MCM8 0 1 0 0 1
MED13 0 0 1 0 1
MEGF10 0 0 1 0 1
MERTK 0 0 1 0 1
MFN2 0 0 1 0 1
MFSD8 1 0 0 0 1
MIP 0 0 1 0 1
MKKS 0 0 1 0 1
MLC1 1 0 0 0 1
MLH1 1 0 0 0 1
MOCOS 0 0 1 0 1
MOCS1 0 1 0 0 1
MORC2 0 1 0 0 1
MPZ 0 0 1 0 1
MT-CYB 0 0 1 0 1
MT-ND5 0 0 1 0 1
MYH2, MYHAS 0 0 1 0 1
MYH6 0 0 1 0 1
MYH7 0 1 0 0 1
MYOC 0 1 0 0 1
NDNF 0 0 1 0 1
NDUFB3 0 0 1 0 1
NDUFS1 0 1 0 0 1
NEB, RIF1 0 0 1 0 1
NF1 0 1 0 0 1
NF2 1 0 0 0 1
NHLRC1 0 1 0 0 1
NKX2-1, SFTA3 0 1 0 0 1
NOTCH2 0 1 0 0 1
NOTCH3 0 1 0 0 1
NR5A1 0 1 0 0 1
NUP155 0 0 1 0 1
OCA2 0 0 1 0 1
OFD1, TRAPPC2 1 0 0 0 1
OTOF 1 0 0 0 1
P3H1 1 0 0 0 1
PCDHG@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4 0 1 0 0 1
PDHA1 0 0 1 0 1
PIGO 0 0 1 0 1
PIK3CA 0 0 1 0 1
PLEKHG5 0 1 0 0 1
PNPLA1 0 1 0 0 1
POLA1 0 0 1 0 1
POLG, POLGARF 0 0 1 0 1
POMGNT1, TSPAN1 0 1 0 0 1
POMK 0 0 1 0 1
POU3F3 0 1 0 0 1
PRKAR1B 0 1 0 0 1
PROC 0 1 0 0 1
PSEN2 0 0 1 0 1
RAB27A 0 1 0 0 1
RARS1 0 1 0 0 1
RIT1 0 0 1 0 1
RMRP 0 0 1 0 1
RSPH3 0 1 0 0 1
RUBCN 0 1 0 0 1
RYR1 0 0 1 0 1
SASS6 0 1 0 0 1
SBF2 0 1 0 0 1
SCN1B 0 1 0 0 1
SCN2A 1 0 0 0 1
SCN3A 1 0 0 0 1
SCN5A 0 1 0 0 1
SCN8A 0 0 1 0 1
SEPSECS 0 0 1 0 1
SERPINC1 1 0 0 0 1
SERPING1 1 0 0 0 1
SGPL1 1 0 0 0 1
SHQ1 0 1 0 0 1
SLC17A5 0 0 1 0 1
SLC25A15 0 1 0 0 1
SLC25A46 0 0 1 0 1
SLC7A7 0 1 0 0 1
SLC9A9 0 0 1 0 1
SORCS1 0 1 0 0 1
SPATA7 1 0 0 0 1
SPEN 0 0 1 0 1
SPTAN1 0 1 0 0 1
SPTB 0 1 0 0 1
SQSTM1 0 0 1 0 1
STAG3 0 1 0 0 1
STK11 1 0 0 0 1
STXBP1 0 1 0 0 1
SUPT16H 0 1 0 0 1
SYNE2 0 1 0 0 1
SYT2 0 1 0 0 1
TANC2 0 0 1 0 1
TBCEL-TECTA, TECTA 0 0 1 0 1
TBX18 0 0 1 0 1
TBX3 0 0 1 0 1
TGM1 0 1 0 0 1
TMEM63A 0 0 1 0 1
TMEM67 1 0 0 0 1
TNNT1 0 1 0 0 1
TNNT2 0 0 1 0 1
TONSL 0 1 0 0 1
TP53 0 1 0 0 1
TP63 0 0 1 0 1
TRMT10C 0 1 0 0 1
TRPC6 0 0 1 0 1
TRRAP 0 0 1 0 1
TSC1 0 0 1 0 1
TSC2 0 1 0 0 1
TSPOAP1 0 0 1 0 1
TTC19 0 1 0 0 1
TUBA1A 0 0 1 0 1
TUBB4A 0 0 1 0 1
TUBGCP6 0 0 1 0 1
TWNK 0 0 1 0 1
TYMP 1 0 0 0 1
UMOD 0 0 1 0 1
UNC13D 1 0 0 0 1
UROS 1 0 0 0 1
VPS13A 1 0 0 0 1
WARS2 0 0 1 0 1
WASF1 0 0 1 0 1
WDR45 1 0 0 0 1
WDR62 0 1 0 0 1
XRCC1 0 1 0 0 1
YY1 0 1 0 0 1
ZBTB18 0 1 0 0 1
ZYG11B 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 368
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance association total
GNE myopathy 0 2 3 0 5
Primary dilated cardiomyopathy 0 1 4 0 5
Autosomal recessive limb-girdle muscular dystrophy type 2I 0 0 3 0 3
Combined immunodeficiency due to LRBA deficiency 0 1 2 0 3
Hyperinsulinemic hypoglycemia, familial, 1 1 1 1 0 3
Intestinal hypomagnesemia 1 2 1 0 0 3
MIRAGE syndrome 0 1 2 0 3
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 3 0 0 0 3
Polycystic kidney disease 4 0 0 3 0 3
Polycystic kidney disease, adult type 2 1 0 0 3
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 2 0 1 0 3
not provided 0 2 1 0 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2 0 0 0 2
Aganglionic megacolon 0 0 2 0 2
Allan-Herndon-Dudley syndrome 1 1 0 0 2
Angelman syndrome 0 2 0 0 2
Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0 0 2 0 2
Atrial conduction disease 0 1 1 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2C 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 3 1 0 1 0 2
Autosomal recessive osteopetrosis 1 1 1 0 0 2
Becker muscular dystrophy; Duchenne muscular dystrophy 2 0 0 0 2
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A 2 0 0 0 2
Ciliary dyskinesia, primary, 46 0 0 2 0 2
Combined immunodeficiency due to DOCK8 deficiency 0 0 2 0 2
Congenital diarrhea 6; Meconium ileus 0 2 0 0 2
Congenital factor VII deficiency 1 1 0 0 2
Cystic fibrosis 1 0 1 0 2
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 1 1 0 0 2
Developmental and epileptic encephalopathy, 18 0 0 2 0 2
Developmental and epileptic encephalopathy, 23 0 0 2 0 2
Developmental regression; Relative macrocephaly; Severe muscular hypotonia 0 0 2 0 2
Duchenne muscular dystrophy 1 1 0 0 2
Epidermolysis bullosa simplex with nail dystrophy 0 2 0 0 2
Farber lipogranulomatosis 0 2 0 0 2
Focal clonic seizure 0 0 2 0 2
Hepatocellular carcinoma 0 0 2 0 2
Hereditary motor and sensory neuropathy 0 0 2 0 2
Hereditary spastic paraplegia 48 0 0 2 0 2
Hereditary spherocytosis type 1 0 1 1 0 2
Hermansky-Pudlak syndrome 1 1 1 0 0 2
Hydatidiform mole, recurrent, 1 0 1 1 0 2
Immunodeficiency; Recurrent skin infections 0 0 2 0 2
Kufor-Rakeb syndrome 0 1 1 0 2
Leukodystrophy, hypomyelinating, 15 0 0 2 0 2
Metabolic acidosis; Renal tubular acidosis; Rickets 0 0 2 0 2
Mitochondrial disease 0 0 2 0 2
Multiple congenital exostosis 2 0 0 0 2
Nephrotic syndrome, type 21 0 0 2 0 2
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 0 1 1 0 2
Perrault syndrome 1 0 0 2 0 2
Primary ciliary dyskinesia 5 0 2 0 0 2
Pyruvate kinase deficiency of red cells 0 1 1 0 2
Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Epidermolysis bullosa pruriginosa 0 1 1 0 2
Rod-cone dystrophy 0 0 2 0 2
Sjögren-Larsson syndrome 1 0 1 0 2
Spastic paraplegia 82, autosomal recessive 0 0 2 0 2
Spinocerebellar ataxia type 42 0 0 2 0 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 1 1 0 0 2
3M syndrome 1 0 1 0 0 1
46,XY sex reversal 11 0 0 1 0 1
46,XY sex reversal 3 0 1 0 0 1
46,XY sex reversal 6 0 0 1 0 1
Abnormal finger morphology 0 0 1 0 1
Acrocapitofemoral dysplasia 0 0 1 0 1
Acyl-CoA oxidase deficiency 1 0 0 0 1
Adams-Oliver syndrome 6 0 1 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 0 1 0 0 1
Adrenoleukodystrophy 1 0 0 0 1
Adult hypophosphatasia 0 0 1 0 1
Aganglionic megacolon; Hyperphosphatasia with intellectual disability syndrome 2 0 0 1 0 1
Al Kaissi syndrome 1 0 0 0 1
Al-Gazali syndrome; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Ehlers-Danlos syndrome, spondylodysplastic type, 2 0 0 1 0 1
Alagille syndrome due to a JAG1 point mutation 1 0 0 0 1
Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 0 1 0 0 1
Alzheimer disease 6 0 1 0 0 1
Anauxetic dysplasia 1; Metaphyseal chondrodysplasia, McKusick type; Metaphyseal dysplasia without hypotrichosis 0 0 1 0 1
Arrhythmogenic right ventricular dysplasia 11 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 13 0 1 0 0 1
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 1 0 0 0 1
Ataxia-telangiectasia syndrome 0 1 0 0 1
Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Larsen syndrome 0 0 1 0 1
Atrial fibrillation, familial, 15 0 0 1 0 1
Autism spectrum disorder 0 1 0 0 1
Autism, susceptibility to, 16 0 0 1 0 1
Autistic behavior 0 0 1 0 1
Autosomal dominant centronuclear myopathy 0 0 1 0 1
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 0 1 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 1 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 12 0 0 1 0 1
Autosomal dominant osteopetrosis 2; Autosomal recessive osteopetrosis 4 0 1 0 0 1
Autosomal recessive congenital ichthyosis 1 0 1 0 0 1
Autosomal recessive congenital ichthyosis 10 0 1 0 0 1
Autosomal recessive congenital ichthyosis 2 0 0 1 0 1
Autosomal recessive congenital ichthyosis 3 0 0 1 0 1
Autosomal recessive congenital ichthyosis 4B 0 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 39 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 89; Leukoencephalopathy, progressive, infantile-onset, with or without deafness 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 9 1 0 0 0 1
Autosomal recessive spastic paraplegia type 76 1 0 0 0 1
Autosomal recessive spinocerebellar ataxia 14 0 0 1 0 1
Autosomal recessive spinocerebellar ataxia 15 0 1 0 0 1
Bardet-Biedl syndrome 9 0 1 0 0 1
Bartter disease type 2 0 1 0 0 1
Bilateral frontoparietal polymicrogyria 0 0 1 0 1
Birt-Hogg-Dube syndrome 0 0 1 0 1
Blepharocheilodontic syndrome 1 0 0 1 0 1
Bohring-Opitz syndrome 0 0 1 0 1
Brain-lung-thyroid syndrome 0 1 0 0 1
Branchiootic syndrome 1 0 1 0 0 1
Brugada syndrome 1 0 1 0 0 1
Brugada syndrome 5; Atrial fibrillation, familial, 13 0 1 0 0 1
CARASIL syndrome 0 1 0 0 1
CHARGE association 0 1 0 0 1
Camptodactyly-tall stature-scoliosis-hearing loss syndrome 0 0 1 0 1
Cardiospondylocarpofacial syndrome; Frontometaphyseal dysplasia 2 0 1 0 0 1
Central core myopathy 0 0 1 0 1
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 0 0 1 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 1 0 0 1
Ceroid lipofuscinosis, neuronal, 6A 0 1 0 0 1
Ceroid lipofuscinosis, neuronal, 6A; Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 0 1 0 0 1
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2Z; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0 1 0 0 1
Charcot-Marie-Tooth disease type 2A1 0 0 1 0 1
Charcot-Marie-Tooth disease type 2A2; Neuropathy, hereditary motor and sensory, type 6A 0 0 1 0 1
Charcot-Marie-Tooth disease type 4B2 0 1 0 0 1
Charcot-Marie-Tooth disease type X 0 0 1 0 1
Cholestanol storage disease 0 1 0 0 1
Chorea-acanthocytosis 1 0 0 0 1
Chédiak-Higashi syndrome 1 0 0 0 1
Citrullinemia type I 0 1 0 0 1
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome 0 1 0 0 1
Combined oxidative phosphorylation defect type 30 0 1 0 0 1
Cone dystrophy 3 0 0 1 0 1
Congenital diarrhea 5 with tufting enteropathy 0 0 1 0 1
Congenital heart defects and skeletal malformations syndrome 0 0 1 0 1
Congenital myasthenic syndrome 10 1 0 0 0 1
Congenital myasthenic syndrome 4A 0 0 1 0 1
Congenital myotonia, autosomal dominant form 0 1 0 0 1
Craniofrontonasal syndrome 1 0 0 0 1
Cutaneous porphyria 1 0 0 0 1
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 0 0 1 0 1
Cutis laxa, autosomal recessive, type 1A 1 0 0 0 1
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 0 1 0 0 1
Deeah syndrome; Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 0 0 1 0 1
Developmental and epileptic encephalopathy 6B 0 1 0 0 1
Developmental and epileptic encephalopathy 97 0 0 1 0 1
Developmental and epileptic encephalopathy, 1 0 0 1 0 1
Developmental and epileptic encephalopathy, 11 1 0 0 0 1
Developmental and epileptic encephalopathy, 19 0 0 1 0 1
Developmental and epileptic encephalopathy, 2 0 1 0 0 1
Developmental and epileptic encephalopathy, 36 0 0 1 0 1
Developmental and epileptic encephalopathy, 4 0 1 0 0 1
Developmental and epileptic encephalopathy, 42 0 0 1 0 1
Developmental and epileptic encephalopathy, 59 0 0 1 0 1
Developmental and epileptic encephalopathy, 62; Epilepsy, familial focal, with variable foci 4 1 0 0 0 1
Developmental cataract; Nystagmus; Microphthalmia; Microcornea 0 0 1 0 1
Developmental cataract; Seizure; Developmental regression; Death in childhood 0 0 1 0 1
Developmental delay with or without dysmorphic facies and autism 0 0 1 0 1
Diaphyseal dysplasia; Brachycephaly; Osteopenia; Diaphyseal sclerosis; Elevated circulating alkaline phosphatase concentration; Hypoplastic acetabulae; Decreased circulating vitamin D concentration 0 0 1 0 1
Diarrhea; Congenital nystagmus; Febrile seizure (within the age range of 3 months to 6 years); Oculocutaneous albinism; Respiratory tract infection; Motor delay, mild 0 0 1 0 1
Dilated cardiomyopathy 1AA 1 0 0 0 1
Dilated cardiomyopathy 1C 0 0 1 0 1
Dilated cardiomyopathy 1D 0 0 1 0 1
Dilated cardiomyopathy 1EE 0 0 1 0 1
Dilated cardiomyopathy 1G 0 0 1 0 1
Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 0 1 0 0 1
Dilated cardiomyopathy 1G; Myopathy, myofibrillar, 9, with early respiratory failure; Hypertrophic cardiomyopathy 9 0 1 0 0 1
Dilated cardiomyopathy 1I 0 0 1 0 1
Dilated cardiomyopathy 1S 0 0 1 0 1
Dilated cardiomyopathy 1V 0 0 1 0 1
Dilated cardiomyopathy 1W 0 0 1 0 1
Dyskeratosis congenita, X-linked 0 1 0 0 1
Dystonia 34, myoclonic 0 0 1 0 1
EAST syndrome 0 1 0 0 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 1 0 0 1
Epilepsy; Intellectual disability; Congenital anomaly of face 0 0 1 0 1
Epileptic encephalopathy, infantile or early childhood, 2 0 0 1 0 1
Epileptic encephalopathy, infantile or early childhood, 3 0 0 1 0 1
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 1 0 0 0 1
Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1 0 1 0 0 1
Factor V and factor VIII, combined deficiency of, type 1 1 0 0 0 1
Factor V deficiency; Hereditary factor VIII deficiency disease; Factor V and factor VIII, combined deficiency of, type 1 0 0 1 0 1
Factor XIII, A subunit, deficiency of 0 1 0 0 1
Failure to thrive; Abnormality of the skeletal system; Penile hypospadias; Micropenis; Severe global developmental delay 0 1 0 0 1
Familial cancer of breast 0 0 1 0 1
Familial cancer of breast; Blepharocheilodontic syndrome 1; Hereditary diffuse gastric adenocarcinoma; Malignant tumor of prostate 0 0 1 0 1
Familial hemophagocytic lymphohistiocytosis 3 1 0 0 0 1
Familial juvenile hyperuricemic nephropathy type 1 0 0 1 0 1
Febrile seizures, familial, 4 0 0 1 0 1
Focal segmental glomerulosclerosis 2 0 0 1 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 0 0 1 0 1
Gabriele de Vries syndrome 0 1 0 0 1
Gaucher disease type I; Gaucher disease type II; Gaucher disease type III; Gaucher disease perinatal lethal; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 0 0 1 0 1
Geroderma osteodysplastica 0 1 0 0 1
Glaucoma 1, open angle, A 0 1 0 0 1
Global developmental delay; Cerebellar atrophy; Kleefstra syndrome 2 0 0 1 0 1
Global developmental delay; Macrocephaly; Intellectual disability 0 0 1 0 1
Glucocorticoid deficiency 1 1 0 0 0 1
Glutamate pyruvate transaminase 2 deficiency 0 0 1 0 1
Griscelli syndrome type 2 0 1 0 0 1
Hemifacial microsomia 0 1 0 0 1
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 0 0 1 0 1
Hereditary angioedema type 1 1 0 0 0 1
Hereditary antithrombin deficiency 1 0 0 0 1
Hereditary diffuse leukoencephalopathy with spheroids 1 0 0 0 1
Hereditary leiomyomatosis and renal cell cancer 0 1 0 0 1
Hereditary spastic paraplegia 35 0 1 0 0 1
Hereditary spastic paraplegia 46 0 1 0 0 1
Hereditary spherocytosis type 2 0 1 0 0 1
Hermansky-Pudlak syndrome 4 0 1 0 0 1
Hyperinsulinemic hypoglycemia, familial, 2 0 1 0 0 1
Hyperinsulinism-hyperammonemia syndrome 0 1 0 0 1
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 0 1 0 0 1
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S 0 1 0 0 1
Hypertrophic cardiomyopathy 4 0 1 0 0 1
Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 0 0 1 0 1
Hypertrophic cardiomyopathy 9 0 0 1 0 1
Hypogonadotropic hypogonadism 25 with anosmia 0 0 1 0 1
Hypokalemia; Hypomagnesemia; Lower limb muscle weakness 0 0 1 0 1
Hypomyelinating leukodystrophy 6 0 0 1 0 1
Hypomyelinating leukodystrophy 9 0 1 0 0 1
Hypothyroidism; Anxiety; Polyarticular arthritis 0 0 1 0 1
Hypotrichosis 8 1 0 0 0 1
Immunoglobulin-mediated membranoproliferative glomerulonephritis 0 1 0 0 1
Infantile onset spinocerebellar ataxia; Perrault syndrome 5 0 0 1 0 1
Intellectual developmental disorder with autistic features and language delay, with or without seizures 0 0 1 0 1
Intellectual disability, autosomal dominant 22 0 1 0 0 1
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 1 0 1
Intellectual disability; Cerebellar atrophy; Juvenile-onset progressive generalized dystonia 0 0 1 0 1
Joubert syndrome 5 0 0 1 0 1
Junctional epidermolysis bullosa with pyloric atresia; Junctional epidermolysis bullosa, non-Herlitz type 0 0 1 0 1
Juvenile onset Parkinson disease 19A 0 1 0 0 1
Kindler syndrome 1 0 0 0 1
Knobloch syndrome 0 0 1 0 1
Lafora disease 0 1 0 0 1
Laron-type isolated somatotropin defect 0 0 1 0 1
Laryngo-onycho-cutaneous syndrome; Epidermolysis bullosa, junctional 2A, intermediate; Epidermolysis bullosa, junctional 2B, severe 1 0 0 0 1
Leber congenital amaurosis 3 1 0 0 0 1
Left ventricular noncompaction 10 0 0 1 0 1
Lethal multiple pterygium syndrome; Myasthenic syndrome, congenital, 1B, fast-channel; Congenital myasthenic syndrome 1A 0 0 1 0 1
Leukodystrophy, hypomyelinating, 19, transient infantile 0 0 1 0 1
Leukodystrophy; Autosomal recessive nonsyndromic hearing loss 89; Global developmental delay 0 0 1 0 1
Lipoyl transferase 1 deficiency 0 0 1 0 1
Lissencephaly due to TUBA1A mutation 0 0 1 0 1
Lysinuric protein intolerance 0 1 0 0 1
MEGF10-related myopathy 0 0 1 0 1
MHC class I deficiency 0 0 1 0 1
Maple syrup urine disease 0 1 0 0 1
Marbach-Schaaf neurodevelopmental syndrome 0 1 0 0 1
Marfan syndrome; Progeroid and marfanoid aspect-lipodystrophy syndrome 1 0 0 0 1
McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 0 0 1 0 1
Meckel syndrome, type 3 1 0 0 0 1
Megaconial type congenital muscular dystrophy 0 0 1 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 1 1 0 0 0 1
Merosin deficient congenital muscular dystrophy 1 0 0 0 1
Methylmalonic acidemia with homocystinuria, type cblX 0 0 1 0 1
Microcephaly 14, primary, autosomal recessive 0 1 0 0 1
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 1 0 0 1
Microcephaly and chorioretinopathy 1 0 0 1 0 1
Miller syndrome 0 0 1 0 1
Mitochondrial DNA depletion syndrome 1 1 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 5 0 1 0 0 1
Mitochondrial complex III deficiency nuclear type 2 0 1 0 0 1
Mucopolysaccharidosis type 7 0 1 0 0 1
Mucopolysaccharidosis, MPS-III-A 1 0 0 0 1
Mucopolysaccharidosis, MPS-III-C 0 1 0 0 1
Muir-Torré syndrome; Colorectal cancer, hereditary nonpolyposis, type 2 1 0 0 0 1
Multiple epiphyseal dysplasia type 5 0 0 1 0 1
Muscular dystrophy, limb-girdle, autosomal dominant 4 0 0 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 0 0 1 0 1
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive 0 1 0 0 1
Myoclonic dystonia 11 1 0 0 0 1
Myopathy due to calsequestrin and SERCA1 protein overload 0 1 0 0 1
Myopathy, proximal, and ophthalmoplegia 0 0 1 0 1
Myopathy; Kidney damage; Rhabdomyolysis 0 0 1 0 1
Myopathy; Spinal muscular atrophy 0 0 1 0 1
Myosin storage myopathy 0 0 1 0 1
Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 0 0 1 0 1
Nemaline myopathy 5; Nemaline myopathy 5B, autosomal recessive, childhood-onset 0 1 0 0 1
Nephrotic syndrome 14 1 0 0 0 1
Neural tube defect 0 0 0 1 1
Neurodegeneration with brain iron accumulation 5 1 0 0 0 1
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 0 1 0 0 1
Neurodegeneration, childhood-onset, with cerebellar atrophy 0 1 0 0 1
Neurodevelopmental disorder 0 1 0 0 1
Neurodevelopmental disorder with absent language and variable seizures 0 0 1 0 1
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 0 1 0 0 1
Neurodevelopmental disorder with dystonia and seizures 0 1 0 0 1
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 0 0 1 0 1
Neurodevelopmental disorder with hearing loss and spasticity 0 0 1 0 1
Neurodevelopmental disorder with or without seizures and gait abnormalities 0 0 1 0 1
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0 0 1 0 1
Neurodevelopmental disorder with poor growth and skeletal anomalies 0 1 0 0 1
Neurodevelopmental disorder with poor language and loss of hand skills; Developmental and epileptic encephalopathy, 59 0 1 0 0 1
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 0 0 1 0 1
Neurofibromatosis, familial spinal 0 1 0 0 1
Neurofibromatosis, type 2 1 0 0 0 1
Neuronal ceroid lipofuscinosis 7 1 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal dominant 11 0 1 0 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 0 1 0 0 1
Neuropathy, hereditary motor and sensory, type 6B 0 0 1 0 1
Noonan syndrome 8 0 0 1 0 1
Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 0 1 0 0 1
Optic atrophy 12 0 1 0 0 1
Osteogenesis imperfecta type 8 1 0 0 0 1
Parkinsonism-dystonia 3, childhood-onset 0 0 1 0 1
Paroxysmal nonkinesigenic dyskinesia 1 0 0 1 0 1
Periventricular nodular heterotopia 6 0 1 0 0 1
Peutz-Jeghers syndrome 1 0 0 0 1
Polycystic kidney disease 0 0 1 0 1
Polycystic kidney disease 3 with or without polycystic liver disease 0 1 0 0 1
Pontocerebellar hypoplasia type 2D 0 0 1 0 1
Premature ovarian failure 10 0 1 0 0 1
Premature ovarian failure 8 0 1 0 0 1
Primary ciliary dyskinesia 32 0 1 0 0 1
Primary hyperoxaluria 0 0 1 0 1
Progressive familial intrahepatic cholestasis type 1; Benign recurrent intrahepatic cholestasis type 1 0 0 1 0 1
Progressive familial intrahepatic cholestasis type 1; Intrahepatic cholestasis with episodic jaundice 0 0 1 0 1
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 0 0 1 0 1
Pyknodysostosis 0 0 1 0 1
Pyruvate dehydrogenase E1-alpha deficiency 0 0 1 0 1
Radio-Tartaglia syndrome 0 0 1 0 1
Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa 0 1 0 0 1
Renal cysts and diabetes syndrome 0 0 1 0 1
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 1 0 0 0 1
Retinitis pigmentosa 27 0 1 0 0 1
Retinitis pigmentosa 3 0 1 0 0 1
Retinitis pigmentosa 38 0 0 1 0 1
Retinitis pigmentosa 45 0 0 1 0 1
Rett syndrome, congenital variant 1 0 0 0 1
Roussy-Lévy syndrome; Dejerine-Sottas disease; Neuropathy, congenital hypomyelinating, 2 0 0 1 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 0 0 1 0 1
Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 0 0 1 0 1
Severe myoclonic epilepsy in infancy 1 0 0 0 1
Severe myoclonic epilepsy in infancy; Developmental and epileptic encephalopathy 6B 0 1 0 0 1
Sialic acid storage disease, severe infantile type; Salla disease 0 0 1 0 1
Sifrim-Hitz-Weiss syndrome 0 1 0 0 1
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 0 0 1 0 1
Skeletal dysplasia 0 0 1 0 1
Skin/hair/eye pigmentation, variation in, 2 1 0 0 0 1
Snijders blok-fisher syndrome 0 1 0 0 1
Spastic ataxia 2 0 1 0 0 1
Spinocerebellar ataxia 44 0 0 1 0 1
Spinocerebellar ataxia type 29 0 0 1 0 1
Spinocerebellar ataxia type 42; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 0 1 0 1
Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14 0 1 0 0 1
Spinocerebellar ataxia type 6 0 0 1 0 1
Spinocerebellar ataxia, autosomal recessive 26 0 1 0 0 1
Sponastrime dysplasia 0 1 0 0 1
Spondyloepiphyseal dysplasia tarda 1 0 0 0 1
Steel syndrome 0 1 0 0 1
Stickler syndrome type 2 0 1 0 0 1
Stromme syndrome 0 0 1 0 1
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 0 1 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 0 1 0 1
Thrombophilia due to protein C deficiency, autosomal recessive 0 1 0 0 1
Tuberous sclerosis 1 0 0 1 0 1
Ulnar-mammary syndrome 0 0 1 0 1
Van der Woude syndrome 1 1 0 0 0 1
Vanishing white matter disease 0 1 0 0 1
Vitamin D-dependent rickets, type 1A 0 0 1 0 1
Wilson disease 0 1 0 0 1
X-linked cone-rod dystrophy 1; Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; Macular degeneration, X-linked atrophic 0 1 0 0 1
X-linked reticulate pigmentary disorder 0 0 1 0 1
Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive 0 1 0 0 1
diphthamide-deficiency syndrome 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.