ClinVar Miner

Variants from Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare

Location: Bangladesh  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 total
190 127 184 0 0 501

Gene and significance breakdown #

Total genes and gene combinations: 372
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
ATP7B 4 2 0 6
CCDST, FLG 1 5 0 6
MECP2 5 0 1 6
CFTR 5 0 0 5
KIF1A 0 0 5 5
SETD5 0 0 5 5
ABCA4 2 2 0 4
HBB, LOC106099062, LOC107133510 4 0 0 4
KMT2B 0 0 4 4
PCDH19 3 0 1 4
SCN1A 3 0 1 4
SHANK2 0 0 4 4
CDKL5 0 3 0 3
CHD3 0 1 2 3
DEPDC5 0 0 3 3
DHTKD1 1 0 2 3
DMD 0 1 2 3
DPYD 2 1 0 3
G6PD 0 3 0 3
GJB2 3 0 0 3
GNAO1 0 3 0 3
MED13 0 0 3 3
RERE 0 0 3 3
SCN8A 1 1 1 3
SETBP1 0 0 3 3
SPG7 2 1 0 3
TSC2 0 1 2 3
VPS13B 2 1 0 3
ABCA13 0 0 2 2
ABCC6 0 2 0 2
ADAR 0 0 2 2
ADRA2B 0 1 1 2
AFF2 0 2 0 2
ANKK1 0 0 2 2
ASL 0 2 0 2
ASPM 0 2 0 2
ASXL3 0 0 2 2
ATP1A2 0 0 2 2
AUTS2 0 1 1 2
BBS1, ZDHHC24 0 2 0 2
BTD 2 0 0 2
C12orf57 2 0 0 2
CACNA1D 0 0 2 2
CACNA1H 0 0 2 2
CC2D2A 2 0 0 2
CDHR1 2 0 0 2
CFTR, LOC111674472 0 2 0 2
CHD2 0 0 2 2
CHRNA2 0 1 1 2
CYP7B1 2 0 0 2
DIP2B 0 0 2 2
GLB1 2 0 0 2
GNRHR 1 1 0 2
GPR85 0 0 2 2
GRM8 0 0 2 2
IGSF1 0 0 2 2
KCNJ10 2 0 0 2
KCNMA1 0 0 2 2
KCNQ2 0 0 2 2
KCNT1 2 0 0 2
KMT2A 1 0 1 2
MTHFR 2 0 0 2
NBEA 1 0 1 2
NPHS1 0 2 0 2
PLEKHG2 0 0 2 2
PRF1 1 1 0 2
PYCR1 2 0 0 2
RNASEH2B 1 1 0 2
RP1L1 1 1 0 2
RYR2 0 0 2 2
SCN2A 0 0 2 2
SCN7A 0 1 1 2
SCN9A 0 0 2 2
SETD2 0 0 2 2
SLC22A5 2 0 0 2
SLC26A4 2 0 0 2
SPTAN1 0 0 2 2
SRCAP 0 0 2 2
TNRC6B 0 0 2 2
WFS1 0 2 0 2
AARS1 0 1 0 1
AARS2 1 0 0 1
ABCC8 0 1 0 1
ABCG5, DYNC2LI1 0 1 0 1
ACAD8 1 0 0 1
ACADS 0 1 0 1
ACD, LOC130059224 0 0 1 1
ACSF3 1 0 0 1
ADGRE2 0 1 0 1
ADNP 1 0 0 1
ALDOB 1 0 0 1
ALG1, EEF2KMT 1 0 0 1
ALMS1 1 0 0 1
ALPL 0 1 0 1
AMHR2 1 0 0 1
AMT 0 1 0 1
AMT, NICN1 1 0 0 1
ANK2 0 1 0 1
ANK3 0 0 1 1
AP4B1 1 0 0 1
AP5Z1 1 0 0 1
ARFGEF1 1 0 0 1
ARID1B 1 0 0 1
ARSA 1 0 0 1
ARSB 1 0 0 1
ASH1L 0 0 1 1
ASIC4, GMPPA 1 0 0 1
ASTN1 0 0 1 1
ATAD3A 0 1 0 1
ATP1A2, LOC126805890 0 1 0 1
ATP2C2 0 0 1 1
ATP8A2 1 0 0 1
ATR 1 0 0 1
AUH 0 1 0 1
BAZ2B 0 0 1 1
BBS10 1 0 0 1
BCHE 1 0 0 1
BCL11A 1 0 0 1
BEST1 0 1 0 1
BRAF 1 0 0 1
BRCA1 1 0 0 1
BRPF1 0 0 1 1
BRSK2 0 0 1 1
BRWD3 0 0 1 1
BSCL2, HNRNPUL2-BSCL2 1 0 0 1
BUB1B 0 1 0 1
C10orf105, CDH23 0 1 0 1
C17orf107, CHRNE, MINK1 1 0 0 1
CACNA1C 0 0 1 1
CACNA2D2, LOC127898564 1 0 0 1
CAMTA1 0 0 1 1
CAPN12 0 0 1 1
CD46 0 1 0 1
CDC42 1 0 0 1
CDH8 0 0 1 1
CDK5RAP2 1 0 0 1
CEACAM16 0 1 0 1
CEP41 0 0 1 1
CERT1, POLK 0 1 0 1
CFAP96, UFSP2 1 0 0 1
CHD3, LOC126862484 0 0 1 1
CHD8 0 0 1 1
CHRNB2 0 0 1 1
CHRNG 1 0 0 1
CLCN4 0 0 1 1
CLCNKB, LOC106501713 0 1 0 1
CLIC2 0 0 1 1
CLPB 1 0 0 1
CLTC 0 0 1 1
CNGA3 1 0 0 1
CNGB3 0 1 0 1
CNTN4 0 0 1 1
CNTNAP2 0 0 1 1
COG6 0 1 0 1
COG7 1 0 0 1
COG8 1 0 0 1
COL4A3, MFF-DT 1 0 0 1
COL7A1 0 1 0 1
COLQ 1 0 0 1
CSDE1 0 1 0 1
CTNND2 0 0 1 1
CUL7 1 0 0 1
CUX2 0 0 1 1
CYB5R3 0 1 0 1
CYP27A1 1 0 0 1
CYP2R1, PDE3B 0 1 0 1
DCHS1 0 1 0 1
DCPS, GSEC 1 0 0 1
DDX11 1 0 0 1
DIAPH3 0 0 1 1
DLG2 0 0 1 1
DLGAP2 0 0 1 1
DNAAF19 1 0 0 1
DOK7 1 0 0 1
DPP6 0 0 1 1
DSCAM 0 0 1 1
DUOX2 1 0 0 1
DUOXA2 1 0 0 1
ECHS1 1 0 0 1
ELMOD3 1 0 0 1
EPM2A 1 0 0 1
ERCC2 1 0 0 1
ERCC6 1 0 0 1
EYS 1 0 0 1
F5 1 0 0 1
FANCA 1 0 0 1
FANCA, LOC112486223 0 1 0 1
FGFR2 0 0 1 1
FGG 0 1 0 1
FKRP 0 1 0 1
FOXP1 0 0 1 1
GAA 1 0 0 1
GABBR2 0 0 1 1
GABRA1 0 0 1 1
GALNS 1 0 0 1
GAMT, LOC130062945 0 1 0 1
GATA2 0 0 1 1
GCDH 1 0 0 1
GDF2 1 0 0 1
GDF3 0 1 0 1
GHRHR 1 0 0 1
GJB4 0 1 0 1
GLDC 1 0 0 1
GNAS 0 1 0 1
GNPTG 1 0 0 1
GPHN, PIGH 1 0 0 1
GPI 0 0 1 1
GREM2 1 0 0 1
GRIN2A 0 0 1 1
GRM5 0 0 1 1
GRN 0 0 1 1
GUSB 1 0 0 1
GYS2 1 0 0 1
HBB, LOC107133510, LOC110006319 1 0 0 1
HCFC1 0 0 1 1
HCN1 0 0 1 1
HECW2 0 0 1 1
HEPACAM 0 0 1 1
HGD 1 0 0 1
HGSNAT 1 0 0 1
HIVEP3 0 0 1 1
HOGA1 0 1 0 1
HPDL 0 1 0 1
IDS 0 0 1 1
IFIH1 0 1 0 1
IFT122 1 0 0 1
IFT172 1 0 0 1
INSR 0 0 1 1
IQSEC2 0 1 0 1
ITGB3 1 0 0 1
ITGB4 0 1 0 1
KANK1 0 0 1 1
KAT6B 0 0 1 1
KCNA2 1 0 0 1
KCND3 0 0 1 1
KCNH2 0 1 0 1
KCNJ1 1 0 0 1
KCNQ5, KCNQ5-DT, LOC129996711 0 0 1 1
KCTD3 0 0 1 1
KDM5C 0 1 0 1
KIAA0586 1 0 0 1
KIDINS220 0 0 1 1
KIF17 0 0 1 1
KLF1, LOC117125591 0 1 0 1
KLK4 1 0 0 1
KMT2C 0 0 1 1
KRT25 1 0 0 1
LAMA2 1 0 0 1
LDB3 0 0 1 1
LMF1 0 1 0 1
LOC105371856, TANC2 0 0 1 1
LOC108281177, SOX2, SOX2-OT 1 0 0 1
LOC126861440, NECAP1 1 0 0 1
LOC126862361, SLC12A3 1 0 0 1
LOC126863212, OFD1 0 0 1 1
LOC128772343, SOX6 0 0 1 1
LOC130007527, PYROXD1 1 0 0 1
LOXHD1 1 0 0 1
LTBP2 0 1 0 1
LYST 0 1 0 1
MACF1 0 0 1 1
MAGEL2 0 0 1 1
MANBA 1 0 0 1
MBD5 0 0 1 1
MCCC1 1 0 0 1
MEOX1 0 1 0 1
MID1 0 0 1 1
MLH3 0 1 0 1
MMACHC 1 0 0 1
MPZL2 0 1 0 1
MRE11 0 1 0 1
MVK 0 1 0 1
MYO15A 0 1 0 1
MYPN 0 0 1 1
MYT1L 0 0 1 1
NAGS 1 0 0 1
NARS1 1 0 0 1
NCKAP1L 1 0 0 1
NDUFAF3 1 0 0 1
NEMF 1 0 0 1
NLGN2 0 0 1 1
NMNAT1 1 0 0 1
NONO 0 0 1 1
NOTCH3 0 0 1 1
NRXN2 0 0 1 1
NSD1 0 1 0 1
NTRK2 1 0 0 1
OBSCN 0 0 1 1
OTC 0 1 0 1
OTUD7A 0 0 1 1
PAFAH1B1 0 0 1 1
PAH 1 0 0 1
PAK1 1 0 0 1
PDE6C 0 1 0 1
PDYN 0 1 0 1
PDZD7 0 1 0 1
PEX1 1 0 0 1
PEX6 1 0 0 1
PGRMC1 0 0 1 1
PHF8 0 0 1 1
PHKA2 0 0 1 1
PIGN 1 0 0 1
PKLR 1 0 0 1
PLP1, RAB9B 0 1 0 1
PMFBP1 1 0 0 1
PMS2 0 1 0 1
PNPLA1 0 1 0 1
POLA1 0 0 1 1
POLE 1 0 0 1
POLR1C 1 0 0 1
POT1 0 1 0 1
PROK2 1 0 0 1
PRSS12 0 0 1 1
PTEN 1 0 0 1
PTS 1 0 0 1
PUM1 0 0 1 1
RAD51D, RAD51L3-RFFL 1 0 0 1
RAG1 1 0 0 1
RAPSN 1 0 0 1
RARS2 1 0 0 1
RLBP1 1 0 0 1
RNASEH2C 1 0 0 1
RNF170 0 1 0 1
ROBO1 0 0 1 1
RPGRIP1L 1 0 0 1
RYR3 0 0 1 1
SACS 0 1 0 1
SBDS 1 0 0 1
SCN1A, SCN9A 0 0 1 1
SCN1B 0 1 0 1
SCN2B 1 0 0 1
SCN3A 0 0 1 1
SDHB 0 1 0 1
SETD1A 0 0 1 1
SETD1B 0 0 1 1
SETX 0 0 1 1
SGSH 1 0 0 1
SH2B1 0 0 1 1
SHANK1 0 0 1 1
SLC13A5 1 0 0 1
SLC19A3 1 0 0 1
SLC1A1 0 0 1 1
SLC1A4 1 0 0 1
SLC25A13 0 1 0 1
SLC29A3 0 1 0 1
SLC2A1 0 0 1 1
SLC3A1 0 1 0 1
SLC4A1 0 1 0 1
SMC3 0 1 0 1
SOD1 1 0 0 1
SSX1 0 0 1 1
SUGCT 1 0 0 1
TANC2 0 0 1 1
TARS2 0 1 0 1
TBCD 1 0 0 1
TBX6 0 1 0 1
TGFBI 1 0 0 1
TGM6 0 1 0 1
TMPRSS3 0 1 0 1
TNFRSF13B 0 1 0 1
TPK1 0 1 0 1
TPM2 0 0 1 1
TRIM37 1 0 0 1
TRIP12 0 0 1 1
TTI1 0 1 0 1
TYR 0 1 0 1
USH2A 0 1 0 1
VPS33B 1 0 0 1
VWF 0 1 0 1
WDR19 1 0 0 1
WDR93 0 0 1 1
ZNF687 0 1 0 1

Condition and significance breakdown #

Total conditions: 188
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
not provided 47 44 184 275
Ichthyosis vulgaris 1 5 0 6
Wilson disease 4 2 0 6
Cystic fibrosis 4 1 0 5
Severe early-childhood-onset retinal dystrophy 2 2 0 4
Hereditary persistence of fetal hemoglobin 3 0 0 3
Hereditary spastic paraplegia 7 2 1 0 3
Knuckle pads, deafness AND leukonychia syndrome 3 0 0 3
Aicardi-Goutieres syndrome 2 1 1 0 2
Arterial calcification, generalized, of infancy, 2 0 2 0 2
Beta-thalassemia HBB/LCRB 2 0 0 2
Cone-rod dystrophy 15 2 0 0 2
Congenital bilateral aplasia of vas deferens from CFTR mutation 1 1 0 2
Dihydropyrimidine dehydrogenase deficiency 2 0 0 2
Familial hemophagocytic lymphohistiocytosis 2 1 1 0 2
Fanconi anemia complementation group A 1 1 0 2
Finnish congenital nephrotic syndrome 0 2 0 2
Glycine encephalopathy 2 1 1 0 2
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2 0 0 2
Hypogonadotropic hypogonadism 7 with or without anosmia 1 1 0 2
Infantile GM1 gangliosidosis 2 0 0 2
Occult macular dystrophy 1 1 0 2
Pendred syndrome 2 0 0 2
Renal carnitine transport defect 2 0 0 2
3-methylcrotonyl-CoA carboxylase 1 deficiency 1 0 0 1
3M syndrome 1 1 0 0 1
ALG1-congenital disorder of glycosylation 1 0 0 1
Achromatopsia 2 1 0 0 1
Achromatopsia 3 0 1 0 1
Al-Raqad syndrome 1 0 0 1
Alkaptonuria 1 0 0 1
Alstrom syndrome 1 0 0 1
Amelogenesis imperfecta type 2A1 1 0 0 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0 1 0 1
Anophthalmia/microphthalmia-esophageal atresia syndrome 1 0 0 1
Argininosuccinate lyase deficiency 0 1 0 1
Arthrogryposis, renal dysfunction, and cholestasis 1 1 0 0 1
Ataxia-telangiectasia-like disorder 1 0 1 0 1
Atrial fibrillation, familial, 14 1 0 0 1
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 0 1 0 1
Autosomal dominant Alport syndrome 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 4B 0 1 0 1
Autosomal dominant sensory ataxia 1 0 1 0 1
Autosomal recessive congenital ichthyosis 10 0 1 0 1
Autosomal recessive cutis laxa type 2B 1 0 0 1
Autosomal recessive multiple pterygium syndrome 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 3 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 77 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 8 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 88 1 0 0 1
Avellino corneal dystrophy 1 0 0 1
Bardet-Biedl syndrome 1 0 1 0 1
Bardet-Biedl syndrome 10 1 0 0 1
Bardet-Biedl syndrome 20 1 0 0 1
Bartter disease type 2 1 0 0 1
Bartter disease type 3 0 1 0 1
Biotin-responsive basal ganglia disease 1 0 0 1
Biotinidase deficiency 1 0 0 1
Bleeding disorder, platelet-type, 24 1 0 0 1
Bothnia retinal dystrophy 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 4 1 0 0 1
COACH syndrome 2 1 0 0 1
COG6-congenital disorder of glycosylation 0 1 0 1
COG7 congenital disorder of glycosylation 1 0 0 1
COG8-congenital disorder of glycosylation 1 0 0 1
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 1 0 0 1
Cerebrooculofacioskeletal syndrome 1 1 0 0 1
Cerebroretinal microangiopathy with calcifications and cysts 3 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2Q 1 0 0 1
Charlevoix-Saguenay spastic ataxia 0 1 0 1
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 0 1 0 1
Cholestanol storage disease 1 0 0 1
Chédiak-Higashi syndrome 0 1 0 1
Cobalamin C disease 1 0 0 1
Cohen syndrome 0 1 0 1
Colorectal cancer, hereditary nonpolyposis, type 7 0 1 0 1
Combined malonic and methylmalonic acidemia 1 0 0 1
Combined oxidative phosphorylation defect type 21 0 1 0 1
Combined oxidative phosphorylation defect type 8 1 0 0 1
Cone dystrophy 4 0 1 0 1
Congenital afibrinogenemia 0 1 0 1
Congenital bile acid synthesis defect 3 1 0 0 1
Congenital dyserythropoietic anemia type 4 0 1 0 1
Congenital factor V deficiency 1 0 0 1
Congenital myasthenic syndrome 10 1 0 0 1
Congenital myasthenic syndrome 11 1 0 0 1
Congenital myasthenic syndrome 4C 1 0 0 1
Congenital myasthenic syndrome 5 1 0 0 1
Cranioectodermal dysplasia 1 1 0 0 1
Cystinuria 0 1 0 1
Deficiency of butyryl-CoA dehydrogenase 0 1 0 1
Deficiency of butyrylcholinesterase 1 0 0 1
Deficiency of guanidinoacetate methyltransferase 0 1 0 1
Deficiency of isobutyryl-CoA dehydrogenase 1 0 0 1
Developmental and epileptic encephalopathy, 25 1 0 0 1
Duchenne muscular dystrophy 0 1 0 1
EAST syndrome 1 0 0 1
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 1 0 0 1
Erythrokeratodermia variabilis et progressiva 2 0 1 0 1
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome 1 0 0 1
Familial hypokalemia-hypomagnesemia 1 0 0 1
Fanconi anemia, complementation group S 1 0 0 1
GNPTG-mucolipidosis 1 0 0 1
Glutaric aciduria, type 1 1 0 0 1
Glutaryl-CoA oxidase deficiency 1 0 0 1
Glycine encephalopathy 1 1 0 0 1
Glycogen storage disease, type II 1 0 0 1
Glycogen storage disorder due to hepatic glycogen synthase deficiency 1 0 0 1
Glycosylphosphatidylinositol biosynthesis defect 17 1 0 0 1
H syndrome 0 1 0 1
Hearing loss, autosomal recessive 111 0 1 0 1
Hearing loss, autosomal recessive 57 0 1 0 1
Heimler syndrome 1 1 0 0 1
Hereditary fructosuria 1 0 0 1
Hereditary spastic paraplegia 48 1 0 0 1
Hereditary spastic paraplegia 5A 1 0 0 1
Hyperammonemia, type III 1 0 0 1
Hypogonadotropic hypogonadism 4 with or without anosmia 1 0 0 1
Immunodeficiency 72 with autoinflammation 1 0 0 1
Immunodeficiency, common variable, 2 0 1 0 1
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy 1 0 0 1
Isolated growth hormone deficiency, type 4 1 0 0 1
Joubert syndrome 23 1 0 0 1
Joubert syndrome 7 1 0 0 1
Joubert syndrome 9 1 0 0 1
Junctional epidermolysis bullosa with pyloric atresia 0 1 0 1
Klippel-Feil syndrome 2, autosomal recessive 0 1 0 1
Leber congenital amaurosis 9 1 0 0 1
Lipase deficiency, combined 0 1 0 1
Merosin deficient congenital muscular dystrophy 1 0 0 1
Metachromatic leukodystrophy 1 0 0 1
Mevalonic aciduria 0 1 0 1
Microcephaly 3, primary, autosomal recessive 1 0 0 1
Microcephaly 5, primary, autosomal recessive 0 1 0 1
Microphthalmia, isolated, with coloboma 6 0 1 0 1
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 0 1 0 1
Mismatch repair cancer syndrome 4 0 1 0 1
Mitochondrial complex 2 deficiency, nuclear type 4 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 18 1 0 0 1
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 1 0 0 1
Mitral valve prolapse, myxomatous 2 0 1 0 1
Mosaic variegated aneuploidy syndrome 1 0 1 0 1
Mucopolysaccharidosis type 6 1 0 0 1
Mucopolysaccharidosis type 7 1 0 0 1
Mucopolysaccharidosis, MPS-III-A 1 0 0 1
Mucopolysaccharidosis, MPS-IV-A 1 0 0 1
Mulibrey nanism syndrome 1 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 1 0 0 1
Muscular dystrophy-dystroglycanopathy type B5 0 1 0 1
Myofibrillar myopathy 8 1 0 0 1
Neonatal intrahepatic cholestasis due to citrin deficiency 0 1 0 1
Nephronophthisis 13 1 0 0 1
Oculocutaneous albinism type 1A 0 1 0 1
Paget disease of bone 6 0 1 0 1
Persistent Mullerian duct syndrome 1 0 0 1
Phenylketonuria 1 0 0 1
Pontocerebellar hypoplasia type 6 1 0 0 1
Primary ciliary dyskinesia 17 1 0 0 1
Primary hyperoxaluria type 3 0 1 0 1
Pyruvate kinase deficiency of red cells 1 0 0 1
Renal tubular acidosis, distal, 4, with hemolytic anemia 0 1 0 1
Retinitis pigmentosa 25 1 0 0 1
Retinitis pigmentosa 73 1 0 0 1
Seckel syndrome 1 1 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 1 0 0 1
Shwachman-Diamond syndrome 1 1 0 0 1
Sitosterolemia 2 0 1 0 1
Spastic tetraplegia and axial hypotonia, progressive 1 0 0 1
Spermatogenic failure 31 1 0 0 1
Spinocerebellar ataxia type 23 0 1 0 1
Spinocerebellar ataxia type 35 0 1 0 1
Spondylocostal dysostosis 5 0 1 0 1
Telangiectasia, hereditary hemorrhagic, type 5 1 0 0 1
Thyroglobulin synthesis defect 1 0 0 1
Thyroid dyshormonogenesis 6 1 0 0 1
Tooth agenesis, selective, 9 1 0 0 1
Transient bullous dermolysis of the newborn 0 1 0 1
Treacher Collins syndrome 3 1 0 0 1
Usher syndrome type 1D 0 1 0 1
Usher syndrome type 2A 0 1 0 1
Vibratory urticaria 0 1 0 1
Vitamin D hydroxylation-deficient rickets, type 1B 0 1 0 1
Vitelliform macular dystrophy 2 0 1 0 1
Warsaw breakage syndrome 1 0 0 1
Wolfram syndrome 1 0 1 0 1
Wooly hair, autosomal recessive 3 1 0 0 1
Xeroderma pigmentosum, group D 1 0 0 1
von Willebrand disease type 1 0 1 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.