ClinVar Miner

List of variants studied for urinary bladder disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001395656.1(ROBO2):c.3379G>A (p.Glu1127Lys)	rs1371853103
NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs)	rs1554844486
NM_015335.5(MED13L):c.1971del (p.Asp657fs)	rs1555247805
NM_133433.4(NIPBL):c.1052C>T (p.Pro351Leu)	rs1743394245

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