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Variant : CV165184 (GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3) Homo sapiens

Symbol: CV165184
Name: GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3
Condition: See cases [RCV000143497]
Clinical Significance: pathogenic
Last Evaluated: 07/01/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AARS2   ABCC10   ABCF1   ABHD16A   ABT1   ACOT13   ADTRP   AGER   AGPAT1   AIF1   ALDH5A1   ANKRD66   ANKS1A   APOBEC2   APOM   ARMC12   ARMH2   ATAT1   ATF6B   ATP6V1G2   ATP6V1G2-DDX39B   ATXN1   ATXN1-AS1   B3GALT4   BAG6   BAK1   BICRAL   BLOC1S5   BLOC1S5-TXNDC5   BMP6   BNIP5   BPHL   BRD2   BRPF3   BTBD9   BTBD9-AS1   BTN1A1   BTN2A1   BTN2A2   BTN3A1   BTN3A2   BTN3A3   BTNL2   BYSL   C2   C2-AS1   C4A   C4B   C6orf132   C6orf136   C6orf15   C6orf201   C6orf223   C6orf226   C6orf47   C6orf52   C6orf62   C6orf89   CAGE1   CAP2   CAPN11   CARMIL1   CASC15   CCDC167   CCHCR1   CCND3   CD83   CDC5L   CDKAL1   CDKN1A   CDSN   CDYL   CDYL-AS1   CFB   CLIC1   CLIC5   CLPS   CLPSL1   CLPSL2   CMTR1   CNPY3   COL11A2   CPNE5   CRIP3   CSNK2B   CUL7   CUL9   CUTA   CYP21A2   CYP39A1   DAAM2   DAAM2-AS1   DAXX   DCDC2   DDAH2   DDR1   DDX39B   DDX39B-AS1   DEF6   DEK   DHX16   DINOL   DLK2   DNAH8   DNAH8-AS1   DNPH1   DSP   DTNBP1   DUSP22   DXO   E2F3   ECI2   ECI2-DT   EDN1   EEF1E1   EEF1E1-BLOC1S5   EGFL8   EHMT2   ELOVL2   ELOVL2-AS1   ENPP4   ENPP5   ERVFRD-1   ERVK9-12   ETV7   ETV7-AS1   EXOC2   F13A1   FAM217A   FAM50B   FAM8A1   FANCE   FARS2   FGD2   FKBP5   FKBPL   FLOT1   FOXC1   FOXCUT   FOXF2   FOXP4   FOXP4-AS1   FOXQ1   FRS3   GABBR1   GCM2   GCNT2   GFOD1   GLO1   GLP1R   GMDS   GMDS-DT   GMNN   GMPR   GNL1   GNMT   GPANK1   GPLD1   GPSM3   GPX5   GPX6   GRM4   GTF2H4   GTPBP2   GUCA1A   GUCA1B   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   HCG21   HCG22   HCG23   HCG24   HCG25   HCG26   HCG27   HCG4   HCG4B   HCG9   HCP5   HCP5B   HDGFL1   HFE   HIVEP1   HLA-A   HLA-B   HLA-C   HLA-DMA   HLA-DMB   HLA-DOA   HLA-DOB   HLA-DPA1   HLA-DPB1   HLA-DQA1   HLA-DQA2   HLA-DQB1   HLA-DQB1-AS1   HLA-DQB2   HLA-DRA   HLA-DRB1   HLA-DRB5   HLA-E   HLA-F   HLA-F-AS1   HLA-G   HMGA1   HMGN4   HSD17B8   HSP90AB1   HSPA1A   HSPA1B   HSPA1L   HULC   HUS1B   ID4   IER3   IER3-AS1   ILRUN   IP6K3   IRF4   ITPR3   JARID2   JARID2-AS1   KAAG1   KCNK16   KCNK17   KCNK5   KCTD20   KDM1B   KIAA0319   KIF13A   KIF6   KIFC1   KLC4   KLHDC3   KU-MEL-3   LEMD2   LHFPL5   LINC00240   LINC00243   LINC00336   LINC00518   LINC00533   LINC00581   LINC00951   LINC01011   LINC01012   LINC01015   LINC01016   LINC01108   LINC01149   LINC01276   LINC01394   LINC01512   LINC01556   LINC01600   LINC01622   LINC01623   LINC02520   LINC02521   LINC02522   LINC02525   LINC02530   LINC02533   LINC02537   LINC02543   LINC02569   LINC02570   LINC02571   LINC02828   LINC02829   LOC285766   LOC401261   LRFN2   LRRC73   LSM2   LST1   LTA   LTB   LY6G5B   LY6G5C   LY6G6C   LY6G6D   LY6G6F   LY86   LY86-AS1   LYRM4   LYRM4-AS1   MAD2L1BP   MAK   MAPK13   MAPK14   MAS1L   MBOAT1   MCCD1   MCUR1   MDC1   MDC1-AS1   MDFI   MDGA1   MEA1   MED20   MICA   MICA-AS1   MICB   MICB-DT   MIR10398   MIR1236   MIR1275   MIR219A1   MIR3135B   MIR3143   MIR3691   MIR3925   MIR3934   MIR4462   MIR4639   MIR4640   MIR4641   MIR4642   MIR4645   MIR4646   MIR4647   MIR5004   MIR548A1   MIR548A1HG   MIR5683   MIR5689   MIR5689HG   MIR5690   MIR586   MIR6720   MIR6721   MIR6780B   MIR6832   MIR6833   MIR6834   MIR6835   MIR6873   MIR6891   MIR7111   MIR7159   MIR7853   MIR877   MIR9983   MLN   MOCS1   MOG   MPIG6B   MRPL14   MRPL2   MRPS10   MRPS18A   MRPS18B   MRS2   MSH5   MSH5-SAPCD1   MTCH1   MUC21   MUC22   MUCL3   MYLIP   MYLK4   MYMX   NBAT1   NCR2   NCR3   NEDD9   NELFE   NEU1   NFKBIE   NFKBIL1   NFYA   NHLRC1   NKAPL   NOL7   NOTCH4   NQO2   NQO2-AS1   NRM   NRN1   NRSN1   NUDT3   NUP153   OARD1   OFCC1   OR10C1   OR11A1   OR12D1   OR12D2   OR12D3   OR14J1   OR1F12   OR2B2   OR2B3   OR2B6   OR2H1   OR2H2   OR2J1   OR2J2   OR2J3   OR2W1   OR5V1   PACSIN1   PAK1IP1   PANDAR   PBX2   PEX6   PFDN6   PGBD1   PGC   PHACTR1   PHF1   PI16   PIM1   PLA2G7   PNPLA1   POLH   POLR1C   POM121L2   POU5F1   PPARD   PPIL1   PPP1R10   PPP1R11   PPP1R18   PPP1R3G   PPP2R5D   PPT2   PPT2-EGFL8   PRICKLE4   PRL   PRPF4B   PRPH2   PRR3   PRRC2A   PRRT1   PRSS16   PSMB8   PSMB8-AS1   PSMB9   PSMG4   PSORS1C1   PSORS1C2   PSORS1C3   PTCRA   PTK7   PXDC1   PXT1   RAB44   RANBP9   RBM24   RCAN2   RGL2   RING1   RIOK1   RIPK1   RIPOR2   RNF144B   RNF182   RNF39   RNF5   RNF8   RPL10A   RPL7L1   RPP21   RPP40   RPS10   RPS10-NUDT3   RPS18   RREB1   RRP36   RSPH9   RUNX2   RUNX2-AS1   RXRB   SAPCD1   SAPCD1-AS1   SAYSD1   SCARNA27   SCGN   SCUBE3   SERPINB1   SERPINB6   SERPINB9   SFTA2   SIRT5   SKIV2L   SLC17A1   SLC17A2   SLC17A3   SLC17A4   SLC22A23   SLC22A7   SLC25A27   SLC26A8   SLC29A1   SLC35B2   SLC35B3   SLC39A7   SLC44A4   SMIM13   SMIM29   SMIM40   SNHG32   SNORA38   SNORD117   SNORD32B   SNORD48   SNORD52   SNORD84   SNRNP48   SNRPC   SOX4   SPATS1   SPDEF   SRF   SRPK1   SRSF3   SSR1   STK19   STK38   STMND1   SUPT3H   SYCP2L   SYNGAP1   TAF11   TAF8   TAP1   TAP2   TAPBP   TBC1D22B   TBC1D7   TBCC   TCF19   TCP11   TCTE1   TDP2   TDRD6   TDRG1   TEAD3   TFAP2A   TFAP2A-AS1   TFAP2A-AS2   TFEB   TJAP1   TMEM14B   TMEM14C   TMEM151B   TMEM170B   TMEM217   TMEM63B   TNF   TNXB   TOMM6   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   TRD-GTC2-6   TRD-GTC2-7   TRD-GTC3-1   TRE-CTC1-6   TREM1   TREM2   TREML1   TREML2   TREML4   TRERF1   TRF-GAA1-1   TRF-GAA1-2   TRF-GAA3-1   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   TSBP1   TSBP1-AS1   TSPO2   TTBK1   TUBB   TUBB2A   TUBB2B   TULP1   TXNDC5   UBD   UBR2   UHRF1BP1   UNC5CL   UQCC2   USP49   VARS1   VARS2   VEGFA   VPS52   VWA7   WDR46   WRNIP1   XPO5   YIPF3   ZBED9   ZBTB12   ZBTB22   ZBTB9   ZFAND3   ZFP57   ZKSCAN3   ZKSCAN4   ZKSCAN8   ZNF165   ZNF184   ZNF311   ZNF318   ZNF322   ZNF391   ZNF76   ZNRD1   ZSCAN12   ZSCAN16   ZSCAN16-AS1   ZSCAN23   ZSCAN26   ZSCAN31   ZSCAN9  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_156974)_(46789291_?)dup
NC_000006.11:g.(?_156974)_(46757028_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh386156,974 - 46,789,291CLINVAR
GRCh376156,974 - 46,757,028CLINVAR
Build 366101,974 - 46,864,987CLINVAR
Cytogenetic Map66p25.3-12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9491095
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-10-08
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.