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Variant : CV71814 (GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3) Homo sapiens

Symbol: CV71814
Name: GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050883]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050883]|See cases [RCV000050883]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: A1BG   A1BG-AS1   ACP4   ASPDH   AURKC   BRSK1   C19orf18   C19orf48   C19orf81   C19orf84   CACNG6   CACNG7   CACNG8   CCDC106   CD33   CDC42EP5   CEACAM18   CLDND2   CLEC11A   CNOT3   COX6B2   CTU1   DNAAF3   DPRX   DUXA   EDDM13   EMC10   EPN1   EPS8L1   ERVK3-1   ERVV-1   ERVV-2   ETFB   FAM71E1   FAM71E2   FCAR   FIZ1   FPR1   FPR2   FPR3   GALP   GP6   GPR32   HAS1   HSPBP1   IGLON5   IL11   ISOC2   JOSD2   KCNC3   KIR2DL1   KIR2DL3   KIR2DL4   KIR2DS4   KIR3DL1   KIR3DL2   KIR3DL3   KLK1   KLK10   KLK11   KLK12   KLK13   KLK14   KLK15   KLK2   KLK3   KLK4   KLK5   KLK6   KLK7   KLK8   KLK9   KMT5C   LAIR1   LAIR2   LENG1   LENG8   LENG8-AS1   LENG9   LILRA1   LILRA2   LILRA4   LILRA5   LILRA6   LILRB1   LILRB2   LILRB3   LILRB4   LILRB5   LIM2   LINC01530   LINC01864   LINC01869   LINC01872   LINC02560   LRRC4B   MBOAT7   MIMT1   MIR10394   MIR125A   MIR1283-1   MIR1283-2   MIR1323   MIR371A   MIR371B   MIR372   MIR373   MIR4752   MIR4754   MIR498   MIR512-1   MIR512-2   MIR515-1   MIR515-2   MIR516A1   MIR516A2   MIR516B1   MIR516B2   MIR517A   MIR517B   MIR517C   MIR518A1   MIR518A2   MIR518B   MIR518C   MIR518D   MIR518E   MIR518F   MIR519A1   MIR519A2   MIR519B   MIR519C   MIR519D   MIR519E   MIR520A   MIR520B   MIR520C   MIR520D   MIR520E   MIR520F   MIR520G   MIR520H   MIR521-1   MIR521-2   MIR522   MIR523   MIR524   MIR525   MIR526A1   MIR526A2   MIR526B   MIR527   MIR643   MIR6801   MIR6802   MIR6803   MIR6804   MIR6805   MIR6806   MIR7975   MIR8061   MIR8074   MIR935   MIR99B   MIRLET7E   MYADM   MYADM-AS1   MYBPC2   MYH14   NAPSA   NAT14   NCR1   NDUFA3   NKG7   NLRP11   NLRP12   NLRP13   NLRP2   NLRP4   NLRP5   NLRP7   NLRP8   NLRP9   NR1H2   OSCAR   PEG3   PEG3-AS1   POLD1   PPP1R12C   PPP2R1A   PPP6R1   PRKCG   PRPF31   PTPRH   RDH13   RFPL4A   RFPL4AL1   RNF225   RPL28   RPS5   RPS9   SBK2   SBK3   SHANK1   SHISA7   SIGLEC10   SIGLEC12   SIGLEC14   SIGLEC5   SIGLEC6   SIGLEC7   SIGLEC8   SIGLEC9   SIGLECL1   SLC27A5   SMIM17   SNAR-F   SNORD157   SNORD88A   SNORD88B   SNORD88C   SPACA6   SPACA6P-AS   SPIB   SSC5D   SYT3   SYT5   TARM1   TFPT   TMC4   TMEM150B   TMEM190   TMEM238   TMEM86B   TNNI3   TNNT1   TRAPPC2B   TSEN34   TTYH1   U2AF2   UBE2S   USP29   VN1R1   VN1R2   VN1R4   VSIG10L   VSTM1   ZBTB45   ZFP28   ZIK1   ZIM2   ZIM2-AS1   ZIM3   ZNF132   ZNF134   ZNF135   ZNF154   ZNF160   ZNF17   ZNF175   ZNF211   ZNF256   ZNF264   ZNF274   ZNF28   ZNF304   ZNF320   ZNF324   ZNF324B   ZNF329   ZNF331   ZNF347   ZNF350   ZNF350-AS1   ZNF415   ZNF416   ZNF417   ZNF418   ZNF419   ZNF432   ZNF444   ZNF446   ZNF460   ZNF460-AS1   ZNF468   ZNF470   ZNF471   ZNF480   ZNF497   ZNF524   ZNF525   ZNF528   ZNF528-AS1   ZNF530   ZNF534   ZNF543   ZNF544   ZNF547   ZNF548   ZNF549   ZNF550   ZNF551   ZNF552   ZNF577   ZNF578   ZNF579   ZNF580   ZNF581   ZNF582   ZNF582-AS1   ZNF583   ZNF584   ZNF586   ZNF587   ZNF587B   ZNF600   ZNF606   ZNF610   ZNF611   ZNF613   ZNF614   ZNF615   ZNF616   ZNF628   ZNF649   ZNF649-AS1   ZNF665   ZNF667   ZNF667-AS1   ZNF671   ZNF677   ZNF701   ZNF71   ZNF749   ZNF761   ZNF765   ZNF766   ZNF772   ZNF773   ZNF776   ZNF784   ZNF787   ZNF8   ZNF805   ZNF808   ZNF813   ZNF814   ZNF816   ZNF816-ZNF321P   ZNF83   ZNF835   ZNF836   ZNF837   ZNF841   ZNF845   ZNF865   ZNF880   ZNF888   ZSCAN1   ZSCAN18   ZSCAN22   ZSCAN4   ZSCAN5A   ZSCAN5B   ZSCAN5C  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_50191219)_(58535818_?)dup
NC_000019.9:g.(?_50694476)_(59047185_?)dup
NC_000019.8:g.(?_55386288)_(63738997_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381950,191,219 - 58,535,818CLINVAR
GRCh371950,694,476 - 59,047,185CLINVAR
Build 361955,386,288 - 63,738,997CLINVAR
Cytogenetic Map1919q13.33-13.43CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617946
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



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