ClinVar Miner

List of variants reported as other for urinary bladder disorder

Included ClinVar conditions (30):

Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Colorectal cancer; Germ cell tumor of testis
Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Malignant tumor of testis; Carcinoma of colon
Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Colorectal cancer; Germ cell tumor of testis; LADD syndrome 1
Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Colorectal cancer; Germ cell tumor of testis; Lacrimoauriculodentodigital syndrome 2
Bone osteosarcoma; Malignant tumor of urinary bladder; Small cell lung carcinoma; Retinoblastoma
Cerebellar ataxia; Motor delay; Scoliosis; Dysarthria; Pes planus; Urinary urgency; Microcephaly; Intellectual disability; Joint laxity; Hammertoe; Distal muscle weakness
Diverticulum of bladder; Inguinal hernia; Scoliosis; Tall stature; Arachnodactyly; Dolichocephaly; Generalized hypotonia; Joint hypermobility; Accelerated skeletal maturation; Ectropion of lower eyelids; High myopia; Dural ectasia; Posterolateral diaphragmatic hernia; Pulmonary bulla
Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux
Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8
Epicanthus; Telecanthus; Blepharophimosis; Renal hypoplasia; Abnormal facial shape; Bulbous nose; Vesicoureteral reflux; Hypoplasia of the maxilla; Intellectual disability; Poor speech
Familial cancer of breast; Hereditary diffuse gastric adenocarcinoma; Lung carcinoma; Noonan syndrome 3; Linear nevus sebaceous syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Familial pancreatic carcinoma; Gastric cancer; Lung cancer
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Gastric cancer; Lung cancer
Gallbladder disease 4
Gallbladder disease 4; Sitosterolemia 1
Global developmental delay; Constipation; Abnormal facial shape; Recurrent urinary tract infections; Vesicoureteral reflux; Generalized hypotonia; Growth abnormality
Global developmental delay; Hydronephrosis; Vesicoureteral reflux; Intellectual disability; Renal atrophy; Attention deficit hyperactivity disorder
Global developmental delay; Motor delay; Short stature; Failure to thrive; Febrile seizure (within the age range of 3 months to 6 years); Delayed speech and language development; Exotropia; Vesicoureteral reflux; Microcephaly; Thrombocytopenia
Large congenital melanocytic nevus; Linear nevus sebaceous syndrome; Malignant tumor of urinary bladder; Costello syndrome; Epidermal nevus; Thyroid cancer, nonmedullary, 2
Malignant tumor of urinary bladder
Motor delay; Delayed speech and language development; Vesicoureteral reflux; Strabismus
Plagiocephaly; Global developmental delay; Pyloric stenosis; Penile hypospadias; Vesicoureteral reflux; Megacolon; Ventricular septal defect
Plagiocephaly; Seizure; Vesicoureteral reflux; Horseshoe kidney; Intellectual disability, mild
Sitosterolemia; Gallbladder disease 4
Transitional cell carcinoma of the bladder
Urinary bladder carcinoma
Vesicoureteral reflux
Vesicoureteral reflux 2
Vesicoureteral reflux 3
Vesicoureteral reflux 8

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_005591.4(MRE11):c.1098+614C>T	rs140067184	0.01533
NM_005591.4(MRE11):c.1225+572A>T	rs397509353	0.00780
NM_005591.4(MRE11):c.1225+577A>C	rs397509354	0.00779
NM_005591.4(MRE11):c.1327-461A>C	rs185485357	0.00356
NM_005591.4(MRE11):c.545-297G>T	rs118024137	0.00272
NM_005591.4(MRE11):c.-105-326A>T	rs183829476	0.00268
NM_005591.4(MRE11):c.1098+1177G>A	rs369782842	0.00207
NM_005591.4(MRE11):c.-105-387C>T	rs397509350	0.00168
NM_005591.4(MRE11):c.314+99A>G	rs143677623	0.00092
NM_005591.4(MRE11):c.1098+1408A>G	rs200367125	0.00083
NM_005591.4(MRE11):c.1225+605T>C	rs397509355	0.00038
NM_005591.4(MRE11):c.1225+40T>C	rs192979170	0.00014
NM_005591.4(MRE11):c.*570A>C	rs397509346	0.00006
NM_005591.4(MRE11):c.1563+281G>A	rs397509429	0.00006
NM_005591.4(MRE11):c.1225+804T>C	rs397509356	0.00003
NM_005591.4(MRE11):c.1202A>G (p.His401Arg)	rs146779325	0.00002
NM_005591.4(MRE11):c.*1359T>C	rs397509348	0.00001
NM_005591.4(MRE11):c.1098+1620T>C	rs397509352	0.00001
NM_005591.4(MRE11):c.1783+561G>A	rs397509357	0.00001
NM_005591.4(MRE11):c.*2731G>A	rs397509349
NM_005591.4(MRE11):c.*631C>T	rs397509347
NM_005591.4(MRE11):c.1784-438A>G	rs397509358
NM_005591.4(MRE11):c.20+821G>A	rs397509351

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