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Variant : CV623714 (Single allele) Homo sapiens

Symbol: CV623714
Name: Single allele
Condition: Neurodevelopmental disorder [RCV000787407]
Clinical Significance: likely pathogenic
Last Evaluated: 04/09/2019
Review Status: no assertion criteria provided
Related Genes: ADA2   ARVCF   ATP6V1E1   BCL2L13   BID   C22orf39   CCT8L2   CDC45   CECR2   CECR3   CLDN5   CLTCL1   COMT   DGCR2   DGCR6   DGCR8   ESS2   GAB4   GNB1L   GP1BB   GSC2   HDHD5   HIRA   IL17RA   MICAL3   MRPL40   PEX26   PRODH   RANBP1   RTL10   RTN4R   SEPTIN5   SLC25A1   SLC25A18   TANGO2   TBX1   TMEM121B   TRMT2A   TSSK2   TUBA8   TXNRD2   UFD1   USP18   XKR3   ZDHHC8  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372217,041,669 - 20,247,250CLINVAR
Cytogenetic Map2222q11.1-11.21CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14698286
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2020-11-24
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.