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Variant : CV73874 (GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3) Homo sapiens

Symbol: CV73874
Name: GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053104]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053104]|See cases [RCV000053104]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADA2   AIFM3   ARVCF   ATP6V1E1   BCL2L13   BCR   BID   C22orf15   C22orf39   CABIN1   CCDC116   CCDC188   CDC45   CECR2   CECR3   CECR7   CHCHD10   CLDN5   CLTCL1   COMT   CRKL   DDT   DDTL   DERL3   DGCR10   DGCR11   DGCR2   DGCR5   DGCR6   DGCR6L   DGCR8   DGCR9   DRICH1   ESS2   FAM230A   FAM230B   FAM230D   FAM230E   FAM230F   FAM230G   FAM230H   FAM230I   FAM230J   GAB4   GGT2   GGT5   GGTLC2   GGTLC3   GNAZ   GNB1L   GP1BB   GSC2   GSTT2   GSTT2B   GSTT4   HDHD5   HDHD5-AS1   HIC2   HIRA   IGL   IGLC1   IGLC2   IGLC3   IGLC7   IGLJ1   IGLJ2   IGLJ3   IGLJ4   IGLJ5   IGLJ6   IGLJ7   IGLL1   IGLL5   IGLV1-36   IGLV1-40   IGLV1-44   IGLV1-47   IGLV1-50   IGLV1-51   IGLV10-54   IGLV11-55   IGLV2-11   IGLV2-14   IGLV2-18   IGLV2-23   IGLV2-33   IGLV2-8   IGLV3-1   IGLV3-10   IGLV3-12   IGLV3-16   IGLV3-19   IGLV3-21   IGLV3-22   IGLV3-25   IGLV3-27   IGLV3-32   IGLV3-9   IGLV4-3   IGLV4-60   IGLV4-69   IGLV5-37   IGLV5-45   IGLV5-48   IGLV5-52   IGLV6-57   IGLV7-43   IGLV7-46   IGLV8-61   IGLV9-49   IL17RA   KLHL22   LINC00528   LINC00895   LINC00896   LINC01311   LINC01634   LINC01637   LINC01651   LINC01659   LINC01664   LINC02556   LINC02557   LRRC74B   LZTR1   MAPK1   MED15   MICAL3   MIF   MIF-AS1   MIR1286   MIR1306   MIR130B   MIR185   MIR301B   MIR3198-1   MIR3618   MIR4761   MIR5571   MIR648   MIR649   MIR650   MIR6816   MMP11   MRPL40   P2RX6   PCAT14   PEX26   PI4KA   PPIL2   PPM1F   PPM1F-AS1   PRAME   PRODH   RAB36   RANBP1   RGL4   RIMBP3   RIMBP3B   RIMBP3C   RSPH14   RTL10   RTN4R   SCARF2   SDF2L1   SEPTIN5   SERPIND1   SLC25A1   SLC25A18   SLC2A11   SLC7A4   SMARCB1   SNAP29   SNORA77B   SPECC1L   SPECC1L-ADORA2A   SUSD2   TANGO2   TBX1   THAP7   THAP7-AS1   TMEM121B   TMEM191B   TMEM191C   TOP3B   TRMT2A   TSSK2   TUBA8   TXNRD2   UBE2L3   UFD1   USP18   USP41   VPREB1   VPREB3   YDJC   YPEL1   ZDHHC8   ZNF280A   ZNF280B   ZNF70   ZNF74  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_16916608)_(24358936_?)dup
NC_000022.10:g.(?_17397498)_(24754904_?)dup
NC_000022.9:g.(?_15777498)_(23084904_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382216,916,608 - 24,358,936CLINVAR
GRCh372217,397,498 - 24,754,904CLINVAR
Build 362215,777,498 - 23,084,904CLINVAR
Cytogenetic Map2222q11.1-11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620052
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.