ISCA Database Search

The ISCA Database Search is currently utilizing the following databases: ISCA/NCBI: November 6, 2012, OMIM: December 6, 2012, UCSC: January 3, 2013. Please contact us at clingen@clinicalgenome.org if you have any questions.

Enter search parameters

Genome Build

Location/Gene
 e.g. chrX:70367400-70384667 or NLGN3 or Xq13.1
Type
Gender
Phenotype(s)
or enter HPO term
Perinatal HistoryPrematurity
IUGR
Oligohydramnios
Polyhydramnios
BehavioralAutism
Oppositional defiant d/o
Obsessive-compulsive d/o
Pervasive developmental d/o
Behavioral/Psychiatric Abnormality
Schizophrenia
CraniofacialCleft lip
Cleft palate
Coloboma
Craniosynostosis
Facial dysmorphism
Ear malformations
Macrocephaly
Microcephaly
GastrointestinalGastroschisis
Hirschprung disease
Omphalocele
Pyloric stenosis
Tracheoesophageal fistula
GrowthFailure to thrive
Overgrowth
Short stature
NeurologicalAtaxia
Dystonia
Chorea
Hypotonia
Neural tube defect
Seizures
Spasticity
Structural brain anomaly
Cerebral palsy
CutaneousHyperpigmentation of the skin
Hypopigmentation of the skin
GenitourinaryAmbiguous genitalia
Hydronephrosis
Hypospadias
Kidney malformation
Undescended testis
Urethral malformation
Urethral obstruction
DevelopmentalFine motor delay
Gross motor delay
Speech delay
Developmental delay
Intellectual disability
CardiacASD
AV canal defect
Coarctation of the aorta
Hypoplastic left heart
Tetralogy of Fallot
VSD
MusculoskeletalContractures
Club foot
Diaphragmatic hernia
Lower limb asymmetry
Upper limb asymmetry
Polydactyly
Scoliosis
Syndactyly
Vertebral anomaly
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ISCA custom tracks in UCSC:
The "ISCA Curated Pathogenic CNVs" represent pathogenic CNVs that have been assessed by the ISCA Evidence-based Review Committee. The ISCA pathogenic, likely pathogenic, uncertain, likely benign, and benign CNV tracks include imbalances that have been interpreted as such by the ISCA submitting clinical laboratories. At this time, these tracks have not been reviewed by the Evidence-based Review Committee. The "ISCA Curated Benign CNVs" track includes imbalances that are known to be variable in normal populations based on the Database of Genomic Variants and/or other databases and have been reviewed by the ISCA Review Committee.

KEY for the ISCA custom tracks:

Red = CNV loss
Blue =CNV gain

Inheritance:

mat = maternal
pat = paternal
dnovo = de novo
unk = not yet tested

Reset the UCSC genome browser settings here. This step will reset your UCSC genome browser to include only the ISCA custom tracks.


Last updated: January 3, 2013
  • Database updates
    • ISCA/NCBI: November 6, 2012
    • OMIM: December 6, 2012
    • UCSC: January 3, 2013