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Variant : CV73021 (GRCh38/hg38 6p22.3-21.33(chr6:18120520-30767516)x1) Homo sapiens

Symbol: CV73021
Name: GRCh38/hg38 6p22.3-21.33(chr6:18120520-30767516)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|See cases [RCV000052180]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCF1   ABT1   ACOT13   ALDH5A1   ARMH2   ATAT1   BTN1A1   BTN2A1   BTN2A2   BTN2A3P   BTN3A1   BTN3A2   BTN3A3   C6orf136   C6orf62   CARMIL1   CASC15   CDKAL1   CMAHP   DCDC2   DEK   DHX16   E2F3   ERVK9-12   FLOT1   GABBR1   GMNN   GNL1   GPLD1   GPX5   GPX6   H1-1   H1-2   H1-3   H1-4   H1-5   H1-6   H2AC1   H2AC11   H2AC12   H2AC13   H2AC14   H2AC15   H2AC16   H2AC17   H2AC4   H2AC6   H2AC7   H2AC8   H2BC1   H2BC10   H2BC11   H2BC12   H2BC13   H2BC14   H2BC15   H2BC17   H2BC3   H2BC4   H2BC5   H2BC6   H2BC7   H2BC8   H2BC9   H3C1   H3C10   H3C11   H3C12   H3C2   H3C3   H3C4   H3C6   H3C7   H3C8   H4C1   H4C11   H4C12   H4C13   H4C2   H4C3   H4C4   H4C5   H4C6   H4C7   H4C8   H4C9   HCG11   HCG14   HCG15   HCG17   HCG18   HCG20   HCG4   HCG4B   HCG9   HDGFL1   HFE   HLA-A   HLA-E   HLA-F   HLA-F-AS1   HLA-G   HMGN4   ID4   IER3   IER3-AS1   KAAG1   KDM1B   KIAA0319   LINC00240   LINC00533   LINC00581   LINC01012   LINC01015   LINC01556   LINC01623   MAS1L   MBOAT1   MDC1   MDC1-AS1   MIR3143   MIR548A1   MIR548A1HG   MIR877   MOG   MRPS18B   MRS2   NBAT1   NHLRC1   NKAPL   NRM   NRSN1   OR10C1   OR11A1   OR12D1   OR12D2   OR12D3   OR14J1   OR1F12   OR2B2   OR2B3   OR2B6   OR2H1   OR2H2   OR2J1   OR2J2   OR2J3   OR2W1   OR5V1   PGBD1   POM121L2   PPP1R10   PPP1R11   PPP1R18   PRL   PRR3   PRSS16   RIPOR2   RNF144B   RNF39   RPP21   SCGN   SLC17A1   SLC17A2   SLC17A3   SLC17A4   SNORD32B   SOX4   TDP2   TPMT   TRA-AGC1-1   TRA-AGC10-1   TRA-AGC11-1   TRA-AGC14-1   TRA-AGC2-1   TRA-AGC2-2   TRA-AGC3-1   TRA-AGC4-1   TRA-AGC5-1   TRA-AGC6-1   TRA-AGC7-1   TRA-CGC1-1   TRA-CGC2-1   TRA-CGC4-1   TRA-CGC5-1   TRA-TGC1-1   TRA-TGC2-1   TRA-TGC5-1   TRA-TGC6-1   TRA-TGC7-1   TRD-GTC2-6   TRD-GTC2-7   TRD-GTC3-1   TRE-CTC1-6   TRF-GAA1-1   TRF-GAA1-2   TRF-GAA3-1   TRF-GAA4-1   TRF-GAA5-1   TRF-GAA6-1   TRG-GCC2-3   TRH-GTG1-5   TRI-AAT2-1   TRI-AAT3-1   TRI-AAT5-1   TRI-AAT5-2   TRI-AAT5-3   TRI-AAT6-1   TRI-AAT7-2   TRI-AAT8-1   TRI-AAT9-1   TRI-TAT2-2   TRI-TAT2-3   TRI-TAT3-1   TRIM10   TRIM15   TRIM26   TRIM27   TRIM31   TRIM31-AS1   TRIM38   TRIM39   TRIM39-RPP21   TRIM40   TRK-CTT2-4   TRK-TTT3-3   TRK-TTT4-1   TRK-TTT6-1   TRK-TTT7-1   TRK-TTT9-1   TRL-AAG2-2   TRL-AAG3-1   TRL-AAG4-1   TRL-CAA1-2   TRL-CAA2-1   TRL-CAA3-1   TRL-CAG1-7   TRL-TAA2-1   TRL-TAA4-1   TRM-CAT3-1   TRM-CAT3-2   TRM-CAT4-2   TRM-CAT4-3   TRM-CAT5-1   TRP-AGG2-2   TRP-CGG2-1   TRQ-CTG1-1   TRQ-CTG1-2   TRQ-CTG1-3   TRQ-CTG2-1   TRQ-CTG5-1   TRQ-CTG6-1   TRQ-TTG2-1   TRQ-TTG3-1   TRQ-TTG3-2   TRQ-TTG3-3   TRR-ACG1-1   TRR-ACG1-2   TRR-ACG2-2   TRR-ACG2-3   TRR-ACG2-4   TRR-CCG1-1   TRR-CCG1-2   TRR-TCG2-1   TRR-TCG4-1   TRR-TCG5-1   TRR-TCT5-1   TRS-AGA1-1   TRS-AGA2-1   TRS-AGA2-2   TRS-AGA2-3   TRS-AGA2-4   TRS-AGA3-1   TRS-AGA4-1   TRS-CGA2-1   TRS-CGA3-1   TRS-GCT1-1   TRS-GCT2-1   TRS-GCT4-1   TRS-GCT5-1   TRS-GCT6-1   TRS-TGA2-1   TRS-TGA3-1   TRS-TGA4-1   TRT-AGT2-1   TRT-AGT2-2   TRT-AGT3-1   TRT-AGT4-1   TRT-AGT6-1   TRT-CGT1-1   TRT-CGT3-1   TRT-CGT5-1   TRT-TGT1-1   TRV-AAC1-5   TRV-AAC3-1   TRV-AAC4-1   TRV-AAC5-1   TRV-AAC6-1   TRV-CAC1-6   TRV-CAC2-1   TRV-CAC6-1   TRV-CAC7-1   TRV-CAC9-1   TRV-TAC4-1   TRW-CCA3-1   TRW-CCA3-2   TRX-CAT1-2   TRX-CAT1-3   TRX-CAT1-4   TRX-CAT1-5   TRX-CAT1-6   TRX-CAT1-7   TRX-CAT2-1   TRY-GTA1-1   TRY-GTA3-1   TRY-GTA6-1   TRY-GTA8-1   TUBB   UBD   ZBED9   ZFP57   ZKSCAN3   ZKSCAN4   ZKSCAN8   ZNF165   ZNF184   ZNF204P   ZNF311   ZNF322   ZNF391   ZNRD1   ZNRD1ASP   ZSCAN12   ZSCAN16   ZSCAN16-AS1   ZSCAN23   ZSCAN26   ZSCAN31   ZSCAN9  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_18120520)_(30767516_?)del
NC_000006.12:g.(?_18120520)_(30767516_?)delNC_000006.12:g.(?_26709716)_(57800367_?)del
NC_000006.11:g.(?_18120751)_(30735293_?)del
NC_000006.10:g.(?_18228730)_(30843272_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38618,120,520 - 30,767,516CLINVAR
GRCh37618,120,751 - 30,735,293CLINVAR
Build 36618,228,730 - 30,843,272CLINVAR
Cytogenetic Map66p22.3-21.33CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8619184
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.