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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:181378520-225167565
GRCh38:
Chr2:180513793-224302848
AAMP, ABCA12, ABCB6, ABI2, ACADL, ACSL3, ACSL3-AS1, ADAM23, ALS2, ANKAR, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, ANKZF1, AOX1, AP1S3, ARPC2, ASDURF, ASIC4, ASIC4-AS1, ASNSD1, ATG9A, ATIC, BARD1, BCS1L, BMPR2, BOLL, BZW1, BZW1-AS1, C2CD6, C2orf66, C2orf69, C2orf80, C2orf88, CALCRL, CALCRL-AS1, CARF, CASP10, CASP8, CATIP, CATIP-AS1, CATIP-AS2, CAVIN2, CAVIN2-AS1, CCDC140, CCDC150, CCNYL1, CD28, CDK15, CDK5R2, CERKL, CFAP65, CFLAR, CFLAR-AS1, CHPF, CLK1, CMKLR2, CMKLR2-AS, CNOT9, CNPPD1, COL3A1, COL5A2, COQ10B, CPO, CPS1, CPS1-IT1, CREB1, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CT75, CTDSP1, CTLA4, CXCR1, CXCR2, CYP20A1, CYP27A1, DES, DES-LCR, DIRC1, DIRC3, DIRC3-AS1, DNAH7, DNAJB2, DNAJC10, DNPEP, DNPEP-AS1, DUSP19, DYTN, EEF1B2, EPHA4, ERBB4, FAM117B, FAM126B, FAM171B, FAM237A, FARSB, FASTKD2, FEV, FLACC1, FN1, FN1-DT, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, FTCDNL1, FZD5, FZD7, GLB1L, GLS, GMPPA, GPBAR1, GTF3C3, GULP1, HECW2, HECW2-AS1, HIBCH, HSPD1, HSPE1, HSPE1-MOB4, ICA1L, ICOS, IDH1, IDH1-AS1, IGFBP-AS1, IGFBP2, IGFBP5, IHH, IKZF2, INHA, INO80D, INPP1, ITGA4, ITGAV, ITPRID2, KANSL1L, KANSL1L-AS1, KCNE4, KCTD18, KIAA2012, KIAA2012-AS1, KLF7, LANCL1, LANCL1-AS1, LINC00607, LINC00608, LINC01090, LINC01280, LINC01473, LINC01494, LINC01614, LINC01790, LINC01792, LINC01802, LINC01803, LINC01821, LINC01827, LINC01857, LINC01877, LINC01878, LINC01921, LINC01923, LINC01934, LINC01953, LINC01963, LINC02832, LOC100129175, LOC100130452, LOC100507443, LOC101927960, LOC102724849, LOC105373780, LOC105373782, LOC105373876, LOC107980445, LOC108178994, LOC108254675, LOC108281145, LOC108281167, LOC108353821, LOC110121128, LOC110121148, LOC110121169, LOC110121204, LOC110121267, LOC111413021, LOC111501760, LOC111828511, LOC111828512, LOC112806063, LOC112806064, LOC112806065, LOC112806066, LOC112806067, LOC112806068, LOC112806069, LOC112806070, LOC112806071, LOC112806073, LOC112806074, LOC112806075, LOC112806076, LOC112806077, LOC112806078, LOC112806079, LOC112806080, LOC112806081, LOC112840900, LOC112840901, LOC112840902, LOC112840903, LOC114004367, LOC114004368, LOC115945202, LOC115947632, LOC115947633, LOC120977017, LOC120977018, LOC120977019, LOC120977020, LOC120977021, LOC120977022, LOC120977023, LOC120977024, LOC120977025, LOC121009626, LOC121009627, LOC121725108, LOC121725109, LOC121725110, LOC121725111, LOC121725112, LOC121725113, LOC121725114, LOC121725115, LOC121725116, LOC121725117, LOC122319436, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC122861267, LOC122861268, LOC122861269, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC122861274, LOC122861275, LOC122861276, LOC122861277, LOC122861278, LOC122861279, LOC122861280, LOC122861281, LOC122861282, LOC122861284, LOC122861285, LOC122861286, LOC122861287, LOC122861288, LOC122861289, LOC122861290, LOC122861291, LOC122861292, LOC122861293, LOC122861294, LOC122861295, LOC122861296, LOC122861297, LOC122861298, LOC122861299, LOC122861300, LOC122861301, LOC729254, MAIP1, MAP2, MARCHF4, MARS2, MDH1B, METTL21A, MFSD6, MIR1245A, MIR1245B, MIR1302-4, MIR153-1, MIR2355, MIR26B, MIR3129, MIR3130-1, MIR3130-2, MIR3131, MIR3132, MIR3606, MIR375, MIR4268, MIR4437, MIR4438, MIR4775, MIR4776-1, MIR4776-2, MIR548AE1, MIR548F2, MIR561, MIR6513, MIR6809, MIR6810, MIR7845, MIR9500, MOB4, MOGAT1, MPP4, MREG, MRPL44, MSTN, MYL1, MYO1B, MYOSLID, MYOSLID-AS1, NAB1, NABP1, NABP1-OT1, NBEAL1, NCKAP1, NDUFB3, NDUFS1, NEMP2, NEMP2-DT, NEUROD1, NHEJ1, NIF3L1, NOP58, NRP2, NUP35, OBSL1, ORC2, ORMDL1, OSGEPL1, OSGEPL1-AS1, PARD3B, PAX3, PCGEM1, PDE1A, PECR, PGAP1, PIKFYVE, PLCD4, PLCL1, PLEKHM3, PMS1, PNKD, PPIL3, PPP1R1C, PRKAG3, PTH2R, PTPRN, RAPH1, RESP18, RETREG2, RFTN2, RNF25, RPE, RPL37A, RPL37A-DT, RUFY4, SATB2, SATB2-AS1, SCG2, SCHLAP1, SERPINE2, SF3B1, SGO2, SGPP2, SLC11A1, SLC23A3, SLC39A10, SLC40A1, SLC4A3, SMARCAL1, SNHG31, SNORA105B, SNORA115, SNORA41, SNORA70I, SNORD11, SNORD11B, SNORD51, SNORD70, SNORD70B, SPAG16, SPAG16-DT, SPATS2L, SPEG, SPEGNB, STAT1, STAT4, STAT4-AS1, STK11IP, STK16, STK17B, STK36, STRADB, SUMO1, TFPI, TMBIM1, TMEFF2, TMEM169, TMEM198, TMEM237, TNP1, TNS1, TNS1-AS1, TRAK2, TRY-ATA1-1, TTLL4, TUBA4A, TUBA4B, TYW5, UBE2E3, UBE2E3-DT, UNC80, USP37, VIL1, VWC2L, VWC2L-IT1, WDFY1, WDR12, WDR75, WNT10A, WNT6, XRCC5, ZC3H15, ZDBF2, ZFAND2B, ZNF142, ZNF804A, ZSWIM2
See casesPathogenic
(Jul 18, 2014)
no assertion criteria providedVCV000150620
2.
GRCh37:
Chr2:189682921-243007359
GRCh38:
Chr2:188818195-242065208
SPP2, MFF-DT, CRYGC, RNF25, CPS1, TRIP12, LINC01877, RESP18, KCNE4, HECW2-AS1, HDAC4, LOC122861312, LINC01494, LINC01880, KCTD18, LOC106783501, LOC121725113, TNP1, LOC112806078, LOC110121236, NMUR1, RAB17, TNS1-AS1, LOC122861310, MTERF4, LOC122889004, LOC112840913, C2orf72, KCNJ13, CYP20A1, CCDC195, TEX44, LOC121725111, MIR3130-2, NDUFS1, ECEL1, LOC122861281, DTYMK, LRRFIP1, HECW2, SNORD82, STAT1, PGAP1, LOC110121204, EEF1B2, CYP27A1, MAIP1, LOC121725109, RHBDD1, VWC2L-IT1, LOC112840900, LOC110121148, UGT1A1, CATIP, C2orf69, SLC40A1, WNT10A, LINC01878, TUBA4B, SERPINE2, SUMO1, SCYGR2, LOC114004368, LOC110121128, ICOS, LOC111828511, COL3A1, FASTKD2, FARP2, LOC122861285, LOC122889014, MIR3606, ACADL, RNPEPL1, NGEF, FAM124B, SNORD70, CRYBA2, LOC122889006, SP100, CHRND, NABP1-OT1, OR6B3, LOC112840908, BZW1, LOC115947637, AP1S3, LOC122861297, AQP12B, AOX1, LOC121009632, OTOS, MYL1, LOC122861288, CFLAR, MIR375, AGAP1, LOC646736, PECR, MIR3129, LINC01953, DUSP28, CAVIN2-AS1, LOC111501790, PID1, CRYGB, B3GNT7, ANO7, LOC115947632, ZFAND2B, USP37, LOC121725116, LOC112806073, HSPE1, FAM237A, METTL21A, LINC01107, LOC285191, ABCA12, CCNYL1, CREB1, SAG, SCYGR1, LOC122861270, LOC112840911, BOK-AS1, ASIC4-AS1, LOC115947636, LOC112840915, ING5, LOC112840902, CDK15, GPR35, COPS7B, LOC122861272, LINC01921, SCYGR8, ARL4C, CATIP-AS1, NABP1, GIGYF2, IRS1, LOC121009635, CHRNG, LOC112840903, NRP2, HDAC4-AS1, CUL3, LOC110120691, LOC122861291, MIR7845, LOC122861320, VIL1, AGXT, HSPD1, LOC122861299, MIR4438, CMKLR2, ADAM23, MIR3131, PPIL3, DNER, SLC16A14, XRCC5, NEU4, LOC121725114, LOC122861294, SPAG16-DT, LOC108348027, ASB1, PRKAG3, LOC122861278, SNORA75, NBEAL1, FAM117B, SLC23A3, LOC120977020, PRSS56, MIR562, LOC112806065, UBE2F, KLF7, LOC112806066, MAP2, PRLH, LOC121009631, BZW1-AS1, LOC122861301, LOC121725122, HSPE1-MOB4, ATIC, LOC122861282, LOC122861303, LOC122861286, LOC121009628, INPP5D, LINC02610, LOC100128563, MIR4439, CRYGA, DNPEP-AS1, LOC120977023, GPBAR1, BCS1L, NAB1, DOCK10, CXCR1, LOC122861292, ANKMY1, STK25, LOC112806067, ANKZF1, LOC122861316, LOC122889005, LOC122861309, RPL37A, ALPI, MIR4776-1, TMEFF2, LOC122861317, MIR1471, MIR5001, LOC115947635, LOC100129175, WDFY1, DYTN, STAT4-AS1, LOC108254675, LOC122861305, C2orf83, LOC122861274, LOC115947634, MIR4440, MIR6811, NPPC, LINC01237, ANKRD44-AS1, MROH2A, NDUFB3, CAPN10-DT, PASK, LINC01857, BMPR2, TRAK2, HES6, CCDC150, LOC122889010, ORMDL1, LOC121009633, TYW5, LOC122861313, CTDSP1, RETREG2, LINC01940, LOC150935, ACSL3-AS1, LOC121009626, IGFBP-AS1, CPS1-IT1, PTPRN, LOC112806074, MIR548F2, BOK, IGFBP2, LOC112840901, RPL37A-DT, MIR6809, LOC121009634, PLCL1, ORC2, ITM2C, SPATA3, COL4A3, LOC121725117, LINC01790, RTP5, ALS2, USP40, LINC01280, SMARCAL1, HTR2B, CXCR2, SLC11A1, LOC101928881, SNORD70B, DIRC3, SCARNA6, TMBIM1, CT75, MIR4786, DES-LCR, LINC01891, AAMP, STRADB, CASP8, NEMP2-DT, LOC110599582, LOC110121201, C2orf66, NIF3L1, CNOT9, SPHKAP, LOC112840914, LOC122861290, LOC122861304, LOC122861276, SPATS2L, SNORD11, MFF, LINC01173, CFLAR-AS1, DNPEP, LINC01827, ATG9A, LOC120977025, ALPG, LOC122861280, LOC121725110, LOC121725120, DIRC3-AS1, EFHD1, LINC00471, FARSB, LOC120977018, TUBA4A, SH3BP4, MOB4, LOC114004367, LOC120977017, LINC00607, SPATA3-AS1, EPHA4, LINC02832, BARD1, TM4SF20, LINC01963, KIF1A, SNORD11B, UGT1A, TRPM8, MOGAT1, ARPC2, STK17B, HIBCH, FN1, ZNF142, CAB39, LOC122861289, LOC115947640, LOC110121227, LOC115947638, WDR12, SP110, RAPH1, CCL20, SNHG31, INO80D, ACSL3, FBXO36, ICA1L, COL5A2, RPE, LOC121009629, MIR3132, LOC122861318, SNORA115, LOC111828512, SGPP2, LINC01802, LOC285097, D2HGDH, AGAP1-IT1, MIR4775, LOC122861307, ASIC4, GBX2, LOC122861293, HDLBP, PLEKHM3, WDR75, LINC01238, LOC115947639, FN1-DT, TRAF3IP1, WNT6, LINC01803, LOC122861277, KIAA2012, LOC122861284, ASDURF, PPP1R7, LOC110121230, ERBB4, FLACC1, FEV, MLPH, SGO2, MIR3130-1, MAB21L4, LANCL1, SNORA105B, STK11IP, MIR4776-2, MIR1245B, LOC120977022, LOC105373876, LOC107980445, IQCA1, UGT1A9, SATB2, SPAG16, LOC112806068, DNAH7, PTMA, NHEJ1, RBM44, HJURP, DES, COQ10B, LOC101927509, LOC121725121, LOC111413021, SNORA70I, ERFE, ANKAR, CLK1, LOC110120803, CHPF, LOC729968, LOC121009627, LOC112840920, LOC102724849, PNKD, PARD3B, ESPNL, COPS8, KANSL1L, LANCL1-AS1, LOC100130449, LOC121725112, LOC122861315, THAP4, MDH1B, LOC108353821, SP140L, KLHL30, TMEM237, TMEM169, MIR6513, DNAJB3, SCYGR10, ANKRD44-IT1, IDH1-AS1, TNS1, SNORC, ANKRD44, LOC120977024, MARCHF4, LOC122889008, PMS1, RFTN2, SPEGNB, ATG4B, CFAP65, LOC122889012, CROCC2, DNAJB2, LOC122861311, LOC112806071, ALPP, SCYGR7, KIAA2012-AS1, PLCD4, LOC122319436, MIR149, MIR4269, ACKR3, UGT1A10, LOC120977021, GCSIR, MREG, GTF3C3, LOC112840904, LOC121725126, TMEM198, SCARNA5, CMKLR2-AS, LOC122861295, DIS3L2, TIGD1, UNC80, LOC122889009, LINC01614, LOC122861273, PIKFYVE, INPP1, LOC120977019, LOC110121169, LOC112806076, CTLA4, C2orf88, DAW1, LOC112806077, SATB2-AS1, STAT4, RUFY4, LOC111501760, IDH1, CATIP-AS2, LOC122861300, CARF, ASB18, ASNSD1, SNORD51, LOC100507443, LOC122861271, IHH, LOC121009630, MIR2467, MGC16025, LOC121725118, LINC01807, SCLY, LOC110121267, SNED1-AS1, VWC2L, SCYGR3, GMPPA, STK36, LINC01923, ABCB6, LOC122889011, SCYGR6, CDK5R2, PRR21, LINC01821, LOC93463, UGT1A4, LOC122889015, SCYGR4, LOC112840909, CPO, MIR5703, C2CD6, SF3B1, LOC122861308, MFSD6, LOC101927960, MIR3133, LOC114004369, OSGEPL1-AS1, FZD7, NEU2, UGT1A3, LINC01907, FAM126B, CD28, TTLL4, LOC112840918, EIF4E2, PAX3, ILKAP, MYO1B, RAMP1, LINC00608, GLB1L, SEPTIN2, UBE2F-SCLY, UGT1A7, LOC100130452, LOC110121229, PTH2R, AQP12A, LOC122861314, LOC112840906, LOC122861306, LOC100287387, LOC108281167, AGFG1, SCG2, MIR153-1, LOC108353814, LOC121725125, DGKD, UICLM, LOC122861319, SLC39A10, PCGEM1, MARS2, UGT1A8, TNRC17, MIR5702, ZDBF2, LOC112840905, LOC401040, LOC108353815, SLC19A3, LOC112840910, LOC121725123, MIR4441, FZD5, LINC01792, ATG16L1, PDCD1, MIR1245A, NOP58, MSTN, LOC122861287, LOC122889007, SNORA41, SNORD20, INHA, CAVIN2, GAL3ST2, SNED1, MRPL44, UGT1A5, MYOSLID-AS1, LOC112806079, MIR4268, NEMP2, CAPN10, OBSL1, NCL, PDE6D, IGFBP5, LINC01937, TRY-ATA1-1, TWIST2, GPC1, LOC122861279, NDUFA10, LOC122861275, COPS9, GLS, PSMD1, LOC110120629, MIR26B, MIR1302-4, LOC121725124, COL4A4, LOC122889016, KANSL1L-AS1, FAM240C, LOC112806069, CNPPD1, LOC112806070, OR6B2, LOC112806075, LOC121725115, MYOSLID, FTCDNL1, LOC122861302, LOC112840912, LOC122861298, C2orf80, CASP10, MIR9500, LOC112840919, SPEG, LOC112806081, PER2, LOC122861296, LOC115945202, ARMC9, MIR6810, CRYGD, LOC122889013, OSGEPL1, LOC121725119, LOC108178994, NYAP2, CCDC140, SCYGR5, GPR55, MIR4777, SLC4A3, LOC115947633, MIR2355, MPP4, LOC112806080, BOLL, COL6A3, LOC729254, STK16, ABI2, MIR1244-1, IKZF2, SP140, UGT1A6
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059158
3.
GRCh37:
Chr2:190300875-242783384
GRCh38:
Chr2:189436149-241841232
TRAK2, TRIP12, TRPM8, TRY-ATA1-1, TTLL4, TUBA4A, TUBA4B, TWIST2, TYW5, UBE2F, UBE2F-SCLY, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UICLM, UNC80, USP37, USP40, VIL1, VWC2L, VWC2L-IT1, WDFY1, WDR12, WDR75, WNT10A, WNT6, XRCC5, ZDBF2, ZFAND2B, ZNF142, AAMP, ABCA12, ABCB6, ABI2, ACADL, ACKR3, ACSL3, ACSL3-AS1, ADAM23, AGAP1, AGAP1-IT1, AGFG1, AGXT, ALPG, ALPI, ALPP, ALS2, ANKAR, ANKMY1, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, ANKZF1, ANO7, AOX1, AP1S3, AQP12A, AQP12B, ARL4C, ARMC9, ARPC2, ASB1, ASB18, ASDURF, ASIC4, ASIC4-AS1, ASNSD1, ATG16L1, ATG4B, ATG9A, ATIC, B3GNT7, BARD1, BCS1L, BMPR2, BOK, BOK-AS1, BOLL, BZW1, BZW1-AS1, C2CD6, C2orf66, C2orf69, C2orf72, C2orf80, C2orf83, C2orf88, CAB39, CAPN10, CAPN10-DT, CARF, CASP10, CASP8, CATIP, CATIP-AS1, CATIP-AS2, CAVIN2, CAVIN2-AS1, CCDC140, CCDC150, CCDC195, CCL20, CCNYL1, CD28, CDK15, CDK5R2, CFAP65, CFLAR, CFLAR-AS1, CHPF, CHRND, CHRNG, CLK1, CMKLR2, CMKLR2-AS, CNOT9, CNPPD1, COL4A3, COL4A4, COL6A3, COPS7B, COPS8, COPS9, COQ10B, CPO, CPS1, CPS1-IT1, CREB1, CROCC2, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CT75, CTDSP1, CTLA4, CUL3, CXCR1, CXCR2, CYP20A1, CYP27A1, D2HGDH, DAW1, DES, DES-LCR, DGKD, DIRC3, DIRC3-AS1, DIS3L2, DNAH7, DNAJB2, DNAJB3, DNER, DNPEP, DNPEP-AS1, DOCK10, DTYMK, DUSP28, DYTN, ECEL1, EEF1B2, EFHD1, EIF4E2, EPHA4, ERBB4, ERFE, ESPNL, FAM117B, FAM124B, FAM126B, FAM237A, FARP2, FARSB, FASTKD2, FBXO36, FEV, FLACC1, FN1, FN1-DT, FTCDNL1, FZD5, FZD7, GAL3ST2, GBX2, GCSIR, GIGYF2, GLB1L, GLS, GMPPA, GPBAR1, GPC1, GPR35, GPR55, GTF3C3, HDAC4, HDAC4-AS1, HDLBP, HECW2, HECW2-AS1, HES6, HIBCH, HJURP, HSPD1, HSPE1, HSPE1-MOB4, HTR2B, ICA1L, ICOS, IDH1, IDH1-AS1, IGFBP-AS1, IGFBP2, IGFBP5, IHH, IKZF2, ILKAP, ING5, INHA, INO80D, INPP1, INPP5D, IQCA1, IRS1, ITM2C, KANSL1L, KANSL1L-AS1, KCNE4, KCNJ13, KCTD18, KIAA2012, KIAA2012-AS1, KIF1A, KLF7, KLHL30, LANCL1, LANCL1-AS1, LINC00471, LINC00607, LINC00608, LINC01107, LINC01173, LINC01280, LINC01494, LINC01614, LINC01790, LINC01792, LINC01802, LINC01803, LINC01807, LINC01821, LINC01827, LINC01857, LINC01877, LINC01878, LINC01891, LINC01907, LINC01921, LINC01923, LINC01937, LINC01940, LINC01953, LINC01963, LINC02610, LINC02832, LOC100128563, LOC100129175, LOC100130449, LOC100130452, LOC100287387, LOC100507443, LOC101927509, LOC101927960, LOC101928881, LOC102724849, LOC105373876, LOC106783501, LOC107980445, LOC108178994, LOC108254675, LOC108281167, LOC108348027, LOC108353814, LOC108353815, LOC108353821, LOC110120629, LOC110120691, LOC110120803, LOC110121128, LOC110121148, LOC110121169, LOC110121201, LOC110121204, LOC110121227, LOC110121229, LOC110121230, LOC110121236, LOC110121267, LOC110599582, LOC111413021, LOC111501760, LOC111501790, LOC111828511, LOC111828512, LOC112806065, LOC112806066, LOC112806067, LOC112806068, LOC112806069, LOC112806070, LOC112806071, LOC112806073, LOC112806074, LOC112806075, LOC112806076, LOC112806077, LOC112806078, LOC112806079, LOC112806080, LOC112806081, LOC112840900, LOC112840901, LOC112840902, LOC112840903, LOC112840904, LOC112840905, LOC112840906, LOC112840908, LOC112840909, LOC112840910, LOC112840911, LOC112840912, LOC112840913, LOC112840914, LOC112840915, LOC112840918, LOC112840919, LOC112840920, LOC114004367, LOC114004368, LOC114004369, LOC115945202, LOC115947632, LOC115947633, LOC115947634, LOC115947635, LOC115947636, LOC115947637, LOC115947638, LOC115947639, LOC115947640, LOC120977017, LOC120977018, LOC120977019, LOC120977020, LOC120977021, LOC120977022, LOC120977023, LOC120977024, LOC120977025, LOC121009626, LOC121009627, LOC121009628, LOC121009629, LOC121009630, LOC121009631, LOC121009632, LOC121009633, LOC121009634, LOC121009635, LOC121725109, LOC121725110, LOC121725111, LOC121725112, LOC121725113, LOC121725114, LOC121725115, LOC121725116, LOC121725117, LOC121725118, LOC121725119, LOC121725120, LOC121725121, LOC121725122, LOC121725123, LOC121725124, LOC121725125, LOC121725126, LOC122319436, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC122861274, LOC122861275, LOC122861276, LOC122861277, LOC122861278, LOC122861279, LOC122861280, LOC122861281, LOC122861282, LOC122861284, LOC122861285, LOC122861286, LOC122861287, LOC122861288, LOC122861289, LOC122861290, LOC122861291, LOC122861292, LOC122861293, LOC122861294, LOC122861295, LOC122861296, LOC122861297, LOC122861298, LOC122861299, LOC122861300, LOC122861301, LOC122861302, LOC122861303, LOC122861304, LOC122861305, LOC122861306, LOC122861307, LOC122861308, LOC122861309, LOC122861310, LOC122861311, LOC122861312, LOC122861313, LOC122861314, LOC122861315, LOC122861316, LOC122861317, LOC122861318, LOC122861319, LOC122861320, LOC122889004, LOC122889005, LOC122889006, LOC122889007, LOC122889008, LOC122889009, LOC122889010, LOC122889011, LOC122889012, LOC122889013, LOC122889014, LOC150935, LOC285191, LOC401040, LOC646736, LOC729254, LOC729968, LOC93463, LRRFIP1, MAB21L4, MAIP1, MAP2, MARCHF4, MARS2, MDH1B, METTL21A, MFF, MFF-DT, MFSD6, MGC16025, MIR1244-1, MIR1302-4, MIR1471, MIR149, MIR153-1, MIR2355, MIR2467, MIR26B, MIR3130-1, MIR3130-2, MIR3131, MIR3132, MIR3133, MIR375, MIR4268, MIR4269, MIR4438, MIR4439, MIR4440, MIR4441, MIR4775, MIR4776-1, MIR4776-2, MIR4777, MIR4786, MIR5001, MIR548F2, MIR562, MIR5702, MIR5703, MIR6513, MIR6809, MIR6810, MIR6811, MIR7845, MIR9500, MLPH, MOB4, MOGAT1, MPP4, MREG, MROH2A, MRPL44, MSTN, MTERF4, MYL1, MYO1B, MYOSLID, MYOSLID-AS1, NAB1, NABP1, NABP1-OT1, NBEAL1, NCL, NDUFA10, NDUFB3, NDUFS1, NEMP2, NEMP2-DT, NEU2, NEU4, NGEF, NHEJ1, NIF3L1, NMUR1, NOP58, NPPC, NRP2, NYAP2, OBSL1, OR6B2, OR6B3, ORC2, ORMDL1, OSGEPL1, OSGEPL1-AS1, OTOS, PARD3B, PASK, PAX3, PCGEM1, PDE6D, PECR, PER2, PGAP1, PID1, PIKFYVE, PLCD4, PLCL1, PLEKHM3, PMS1, PNKD, PPIL3, PPP1R7, PRKAG3, PRLH, PRR21, PRSS56, PSMD1, PTH2R, PTMA, PTPRN, RAB17, RAMP1, RAPH1, RBM44, RESP18, RETREG2, RFTN2, RHBDD1, RNF25, RNPEPL1, RPE, RPL37A, RPL37A-DT, RUFY4, SAG, SATB2, SATB2-AS1, SCARNA5, SCARNA6, SCG2, SCLY, SCYGR1, SCYGR10, SCYGR2, SCYGR3, SCYGR4, SCYGR5, SCYGR6, SCYGR7, SCYGR8, SEPTIN2, SERPINE2, SF3B1, SGO2, SGPP2, SH3BP4, SLC11A1, SLC16A14, SLC19A3, SLC23A3, SLC39A10, SLC40A1, SLC4A3, SMARCAL1, SNED1, SNED1-AS1, SNHG31, SNORA105B, SNORA115, SNORA41, SNORA70I, SNORA75, SNORC, SNORD11, SNORD11B, SNORD20, SNORD51, SNORD70, SNORD70B, SNORD82, SP100, SP110, SP140, SP140L, SPAG16, SPAG16-DT, SPATA3, SPATA3-AS1, SPATS2L, SPEG, SPEGNB, SPHKAP, SPP2, STAT1, STAT4, STAT4-AS1, STK11IP, STK16, STK17B, STK25, STK36, STRADB, SUMO1, TEX44, THAP4, TIGD1, TM4SF20, TMBIM1, TMEFF2, TMEM169, TMEM198, TMEM237, TNP1, TNRC17, TNS1, TNS1-AS1, TRAF3IP1
See casesPathogenic
(Mar 18, 2014)
no assertion criteria providedVCV000154206
4.
GRCh37:
Chr2:191175462-242834921
GRCh38:
Chr2:190310736-241892770
BZW1, GPR55, C2orf66, HTR2B, CARF, MAB21L4, LOC121725124, MIR3133, LOC121725111, LOC122889004, RPE, BOK, CAPN10-DT, TRAK2, STK16, LOC112840903, LOC110121230, CRYGA, LOC121725125, SPATA3, C2orf83, LINC00607, AAMP, RNF25, IRS1, LOC122861292, MIR5703, SEPTIN2, SCYGR7, MIR1302-4, LOC110121148, LINC02832, LOC112840904, PAX3, LOC110121236, CMKLR2, SLC23A3, LOC122861274, NAB1, SLC39A10, KCTD18, PSMD1, LOC112806074, CATIP-AS2, NABP1-OT1, LOC100128563, LOC110121204, SNORD70B, PARD3B, MYOSLID-AS1, LOC121009626, ACSL3-AS1, MYOSLID, LOC120977019, DTYMK, WNT6, LINC01921, CDK5R2, LOC100507443, LOC111413021, LOC100287387, KIAA2012-AS1, FTCDNL1, SF3B1, SPEG, DOCK10, SLC16A14, DIRC3, FN1, LOC115947634, KLF7, LOC112806071, LOC121725120, SPAG16, DIS3L2, TMEM237, SPAG16-DT, NDUFS1, SGPP2, FZD7, MOGAT1, CCNYL1, NMUR1, MIR4269, COPS7B, CRYBA2, TNS1, IGFBP2, LOC122861309, MARCHF4, PTMA, ORC2, MIR6513, SCARNA5, DNPEP, HDAC4-AS1, GBX2, HECW2, LANCL1, SNORA75, MAIP1, UICLM, VWC2L-IT1, LOC285191, CXCR2, WDR12, TNRC17, KCNE4, ATG9A, CDK15, MIR6809, GCSIR, LOC112840912, HECW2-AS1, LOC121725122, LOC121725119, WNT10A, UBE2F-SCLY, CCDC140, STAT1, DNPEP-AS1, UGT1A8, LOC100129175, GLB1L, LOC110121201, DNER, MIR9500, LOC110599582, AGAP1-IT1, LINC01790, LOC122861308, GIGYF2, MIR3130-1, LOC120977022, ANKRD44-IT1, LOC122861306, LINC00608, LOC122861301, LOC111828512, STK25, LOC122861278, LINC01807, LOC112840908, KLHL30, LOC112840909, LOC121009627, CYP27A1, ARPC2, COPS8, NDUFB3, CLK1, LOC122861295, LOC112806070, MROH2A, CPS1, LOC100130449, SCARNA6, LOC110120629, SNORD70, NRP2, FAM117B, HSPE1-MOB4, NEMP2-DT, CXCR1, ALPP, LOC112840911, FEV, B3GNT7, LINC00471, LOC112806077, LOC115947637, FARP2, ALPG, LOC115947632, GAL3ST2, LINC01878, LOC122861305, LOC121009635, RFTN2, LOC120977018, MIR4775, COPS9, LOC122861315, LOC112840905, DNAJB3, UGT1A7, LOC112806075, LOC115947639, LOC121725118, PASK, SNORA115, OR6B2, CASP10, TTLL4, DGKD, UGT1A9, DES-LCR, MDH1B, STRADB, LOC112840918, ATG4B, LOC110121128, LOC121725112, MIR2467, LOC120977025, LOC121725115, LOC122861277, CATIP, RBM44, LINC01280, LOC122861273, PTH2R, SCYGR10, IGFBP-AS1, MIR149, KANSL1L, LOC114004367, LOC122861291, NOP58, FAM124B, NIF3L1, MIR3131, IDH1, LOC121725116, SNORD82, LOC122861284, LOC122861304, CUL3, LOC112840915, TNP1, LOC112806081, LOC115947640, PLCD4, LOC108353815, FBXO36, NEU4, MARS2, LOC729968, LOC122889010, LOC112840906, SCG2, MLPH, MIR375, OBSL1, LOC121009634, LOC115947635, RAPH1, NHEJ1, LOC102724849, LOC101927509, VIL1, KIAA2012, PRSS56, LOC122889012, LOC122861285, LOC108178994, LOC111828511, CHPF, ITM2C, HSPD1, LOC122861312, INO80D, CROCC2, C2orf80, LOC121725121, NPPC, LOC115947636, LOC122861317, LOC112840920, CAPN10, LINC01937, LOC122861296, UGT1A5, SLC19A3, SLC11A1, LINC01857, PPP1R7, LINC01803, LOC115947638, LOC121009628, LOC112840914, GMPPA, INHA, ASB1, EIF4E2, SNORA41, UBE2F, STK11IP, NDUFA10, TRIP12, ADAM23, ZFAND2B, UGT1A6, LOC112840901, LRRFIP1, ICOS, TM4SF20, SPP2, USP37, FASTKD2, ANO7, LOC646736, LOC122889006, ICA1L, ABCA12, TNS1-AS1, LOC110121227, SNED1-AS1, LOC112806073, IGFBP5, LOC729254, C2CD6, ESPNL, METTL21A, LOC108348027, LOC122861275, LOC122861271, DAW1, LOC122861318, MIR6810, FARSB, CFAP65, KANSL1L-AS1, CHRNG, TMEM198, CFLAR-AS1, MIR4777, LOC115947633, LOC122889005, EPHA4, LOC122861314, HIBCH, UGT1A, AP1S3, SCYGR5, D2HGDH, NYAP2, SNORD20, MIR7845, CD28, MOB4, ALPI, RHBDD1, ANKMY1, RESP18, MIR5001, LINC01802, PID1, INPP5D, LOC122319436, LOC112840900, PRR21, ECEL1, SCYGR2, VWC2L, RETREG2, ZNF142, MIR3132, MAP2, STK36, ATG16L1, LINC01107, LOC122861313, LOC122861302, LOC121009631, LOC122861286, UGT1A4, MIR5702, PCGEM1, KCNJ13, LOC122889011, MIR4441, MFF-DT, LOC401040, LINC01940, LOC120977017, ALS2, SNORA105B, LOC121725117, LOC105373876, NEU2, LINC01792, ASB18, LOC121009629, COQ10B, HDLBP, SNED1, LOC121725109, LOC122889013, PPIL3, LOC122861288, TRY-ATA1-1, RAMP1, SNORD11B, SATB2-AS1, LOC122889008, IQCA1, CYP20A1, LOC112806078, TRAF3IP1, COL4A4, HSPE1, STK17B, LOC121725113, OTOS, TUBA4B, LOC112806068, CMKLR2-AS, SLC4A3, LOC122861287, XRCC5, LOC108353821, SATB2, LOC122861276, RTP5, LOC122861272, IHH, PDCD1, CAVIN2-AS1, SP110, CHRND, RUFY4, NGEF, UGT1A1, PIKFYVE, BCS1L, ASIC4, GPC1, MREG, FAM237A, MIR1244-1, CNPPD1, CTLA4, UNC80, CAVIN2, NEMP2, LOC114004368, BMPR2, LOC122861282, THAP4, DIRC3-AS1, TRPM8, ACADL, CPO, UGT1A3, LOC108254675, MGC16025, SCLY, LOC122861270, LOC111501790, MIR4268, SPATS2L, LOC121009632, DUSP28, LOC122861294, LOC121725123, GLS, LINC01923, BOLL, CREB1, CRYGB, DNAJB2, COL4A3, MYO1B, STAT4-AS1, LINC02610, LINC01614, SNORA70I, LOC120977021, ANKZF1, ZDBF2, SCYGR8, SPEGNB, FZD5, LINC01963, SNORC, MRPL44, ABCB6, LOC108353814, SNORD11, LOC112840919, SCYGR3, LOC112806080, ARL4C, MIR2355, AGAP1, SPHKAP, MIR6811, LOC122861311, LOC122861320, TIGD1, LOC122861307, ACSL3, SP140, LOC120977020, BOK-AS1, BARD1, MIR4438, ERBB4, LINC01907, LOC122861290, MIR562, ARMC9, MFF, LOC107980445, NBEAL1, HJURP, LOC108281167, LOC122861299, PLCL1, DNAH7, IKZF2, LOC106783501, LOC122861310, LOC110121229, SGO2, LINC01891, LOC114004369, ERFE, CRYGD, MIR1471, MYL1, LOC122861279, LINC01821, CNOT9, INPP1, KIF1A, COL6A3, MIR3130-2, SCYGR4, AQP12A, MIR4440, ASIC4-AS1, PRKAG3, PDE6D, CT75, LOC112806066, LOC122861319, SNHG31, PER2, MIR26B, DYTN, LOC122889014, PLEKHM3, LOC112840913, AGFG1, SAG, BZW1-AS1, SERPINE2, SCYGR6, FLACC1, MIR4439, TUBA4A, CCDC150, ING5, LINC01494, OR6B3, CCL20, GPBAR1, MIR548F2, LOC121009633, LOC150935, C2orf69, RNPEPL1, C2orf72, SPATA3-AS1, CASP8, LOC122889007, LOC112806067, CAB39, ACKR3, LOC122861316, SH3BP4, ATIC, LOC101928881, USP40, HDAC4, LINC01953, LOC120977023, HES6, PNKD, EEF1B2, LOC122861303, LINC01173, ANKRD44, LINC01237, LOC122861293, LOC112806076, NABP1, TYW5, LOC112806069, WDFY1, PRLH, PGAP1, SNORD51, LOC122861297, LOC111501760, RPL37A, LOC100130452, LOC122889009, CATIP-AS1, CRYGC, LOC121725110, LOC110120691, UGT1A10, LOC110121267, GPR35, SP100, LOC122861289, LANCL1-AS1, MIR4786, LOC115945202, FN1-DT, ABI2, LOC121725126, TWIST2, LOC110121169, MIR153-1, MPP4, SUMO1, STAT4, LOC122861300, LOC122889015, RAB17, LOC110120803, TMBIM1, LOC112806079, LOC112840902, LOC122861298, SMARCAL1, TEX44, SCYGR1, LINC01877, LOC122861281, CFLAR, RPL37A-DT, LOC121725114, AOX1, GTF3C3, EFHD1, LOC93463, TMEM169, SP140L, MTERF4, AQP12B, NCL, LOC101927960, CPS1-IT1, MIR4776-2, MIR4776-1, DES, AGXT, LOC122861280, IDH1-AS1, CTDSP1, ILKAP, LOC112840910, PTPRN, ANKRD44-AS1, LOC121009630, PECR, LINC01827, MFSD6, TMEFF2, LOC120977024, CCDC195, FAM126B
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059159
5.
GRCh37:
Chr2:195763507-237382556
GRCh38:
Chr2:194898783-236473913
LOC110120629, COPS7B, LINC01173, PTPRN, CNPPD1, ACADL, RHBDD1, CPS1-IT1, SCYGR3, EPHA4, SNORD70B, LOC115947633, INO80D, MIR3130-2, LOC112806077, NEU2, SPATA3-AS1, NDUFB3, LOC121725109, IGFBP2, BZW1-AS1, NIF3L1, SH3BP4, MIR4777, SPHKAP, SNORD70, UGT1A1, TMEM237, LOC122861300, SNHG31, CRYBA2, LOC108254675, IGFBP-AS1, LINC01923, LOC121725111, LOC122861317, CLK1, MREG, LOC111413021, LOC111828512, LOC121725112, LOC108353815, NHEJ1, LINC01802, LOC110120803, DOCK10, MIR153-1, TMBIM1, LOC120977019, LOC110121204, PDE6D, CAB39, LOC112806071, LOC112806069, LOC121009631, MRPL44, LOC122861274, SPATS2L, STK17B, MIR2355, LOC112806078, LOC112806070, HECW2-AS1, LOC122861276, C2CD6, LOC122861318, IDH1-AS1, ECEL1, GMPPA, CDK5R2, LOC110121148, LOC122889007, MPP4, SCYGR2, ZFAND2B, UGT1A4, LOC122861295, GPR55, RFTN2, DNER, DYTN, INHA, NRP2, IDH1, LOC112806075, MIR548F2, PPIL3, SNORD11B, AGAP1, ZDBF2, CATIP-AS2, LINC01807, TRIP12, LOC120977022, GIGYF2, MOB4, LOC122861319, IGFBP5, SNORA41, EFHD1, TUBA4B, MIR6513, LOC122861292, CASP10, MIR1244-1, FTCDNL1, MAIP1, LOC122861287, CXCR1, ICA1L, SATB2, TEX44, LOC121725124, LINC00607, AP1S3, TIGD1, SMARCAL1, ASIC4, MIR562, LOC112840901, LOC112840908, LOC114004368, KIAA2012, LOC122861306, HECW2, MIR1471, CHRND, ATG16L1, CUL3, LOC122861281, KANSL1L-AS1, LOC112806076, DNAJB2, LOC121725117, LOC122861284, MYOSLID, LOC122861311, LOC122861278, DGKD, UGT1A7, PIKFYVE, LINC01891, CRYGB, BARD1, LINC01280, GPBAR1, WNT6, LOC110121267, MIR3131, SLC39A10, USP37, COL4A3, MIR4776-2, SPAG16, TUBA4A, GCSIR, LOC122861280, LOC110120691, HTR2B, ATG9A, STK36, SCYGR5, LOC105373876, MFF, PRKAG3, MIR4439, LOC122861307, LOC111828511, KIAA2012-AS1, BZW1, LOC121725123, LOC122861275, TM4SF20, LOC102724849, COQ10B, NGEF, MIR5702, CYP27A1, CRYGC, LINC01878, LOC122861290, MARCHF4, LOC108281167, CATIP, LOC115947636, LOC122319436, MIR4776-1, LOC112840900, TRY-ATA1-1, TNS1-AS1, PTH2R, RUFY4, NCL, HSPE1-MOB4, LOC122861310, LOC122889008, DES-LCR, LOC112840912, KCTD18, KCNJ13, LOC114004369, FZD7, STRADB, TRAK2, LOC112840903, UNC80, KANSL1L, ANKZF1, MROH2A, LOC122861282, LOC112840911, MFF-DT, SP110, LOC110121128, MIR6810, LOC112806079, LOC122861297, DIS3L2, LOC122861301, LOC122861315, FZD5, LOC121725121, OBSL1, LOC122861288, DNPEP, LOC122889009, HSPD1, LOC122861298, STK16, SPEG, LOC121725118, LOC108353821, WDFY1, UGT1A6, LOC122861320, FBXO36, LINC01857, CCDC195, CFLAR, CATIP-AS1, C2orf83, METTL21A, CTDSP1, LOC110121169, LOC122861277, COL4A4, B3GNT7, LOC100129175, LOC122861289, LOC120977018, DNPEP-AS1, MIR5703, TNS1, ASB18, LOC112840906, DIRC3-AS1, LOC121009626, NBEAL1, LOC122861304, UGT1A3, LINC01803, FAM126B, LOC114004367, MIR7845, SLC4A3, HSPE1, BCS1L, VWC2L-IT1, FASTKD2, AAMP, DIRC3, CFLAR-AS1, LOC122889006, LOC122861316, ARPC2, C2orf72, LANCL1-AS1, PLCD4, SCYGR6, FAM237A, RPE, SCARNA5, SPP2, LOC646736, MIR26B, PRSS56, PAX3, MIR6809, EEF1B2, UGT1A8, ABCA12, VWC2L, VIL1, SP140L, DES, LOC122889004, SCARNA6, PSMD1, ASIC4-AS1, LOC122861308, LOC112840910, LOC121725114, XRCC5, DNAJB3, MAP2, AOX1, CYP20A1, LANCL1, ORC2, SERPINE2, SPEGNB, ADAM23, SNORA105B, LOC107980445, SLC16A14, LOC122861291, LINC00471, LOC122861294, CCL20, CCNYL1, CTLA4, MIR3130-1, LOC121725113, PLEKHM3, SLC11A1, LOC120977024, SCYGR8, RAPH1, MYL1, LOC122861313, TNP1, LOC122861299, LINC01921, CCDC140, NDUFS1, SPAG16-DT, ABI2, SAG, SUMO1, PGAP1, LOC121009628, ACSL3-AS1, MARS2, RNF25, LINC01907, ERBB4, SPATA3, KLF7, LOC121009632, SLC23A3, LOC120977023, FARSB, NYAP2, FEV, RESP18, TNRC17, WNT10A, LOC122861309, NPPC, AGFG1, SLC19A3, TTLL4, ANKRD44-AS1, LOC121009629, PNKD, TYW5, CRYGA, SCYGR10, ANKRD44-IT1, SNORD82, MIR1302-4, FN1, LOC108178994, ANKRD44, ITM2C, LOC108348027, SNORA75, IRS1, LOC120977020, CFAP65, RPL37A, SCG2, KCNE4, SF3B1, CPO, LOC112840905, MOGAT1, LOC100507443, LOC122861312, ICOS, CASP8, UGT1A10, LOC122861303, C2orf66, SNORD11, LOC122861293, MIR5001, CCDC150, LOC122861279, LINC01963, SP140, LOC122861296, LOC122861286, DNAH7, SCYGR4, MDH1B, LINC02832, MIR4775, LOC122861305, LOC112840904, LOC121725122, UGT1A5, CHRNG, MIR375, CHPF, LOC120977021, TMEM198, SGO2, LOC729968, MIR3132, LOC115947635, LOC122861302, SNORA115, GBX2, MIR4438, LOC111501760, ALPI, CMKLR2, SCYGR7, SCYGR1, LOC100130452, LOC121725110, BMPR2, LOC122889005, RETREG2, NMUR1, LINC00608, PID1, LOC121725116, LOC112806073, LOC122861285, CARF, PTMA, CD28, MIR4268, SNORD51, GTF3C3, LOC121725115, LOC112840902, LOC108353814, LOC121725119, UGT1A, CNOT9, SP100, DAW1, LOC120977025, SNORA70I, LINC01827, LOC121009627, SNORD20, ARMC9, CRYGD, LINC01877, FAM124B, MYOSLID-AS1, RPL37A-DT, BOLL, CXCR2, ALPG, CREB1, LOC121009630, AGAP1-IT1, UGT1A9, LOC101928881, LOC112806074, CMKLR2-AS, C2orf69, CPS1, LOC115947634, ABCB6, LOC112806081, WDR12, ATIC, TRPM8, FLACC1, PARD3B, LOC121725120, IQCA1, TMEM169, LINC01792, SATB2-AS1, ALPP, INPP5D, FN1-DT, HJURP, ARL4C, SNORC, ZNF142, PLCL1, ACSL3, NOP58, PECR, MIR9500, STK11IP, LOC101927960, GLB1L, FAM117B, IKZF2, ALS2, SGPP2, LINC01494, LINC01614, LINC01953, CT75, LOC112806080, EIF4E2, USP40, C2orf80, LOC112840909, IHH, CDK15, LOC122861314
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057419
6.
GRCh37:
Chr2:211444400-243059659
GRCh38:
Chr2:210579676-242126245
MTERF4, NCL, NDUFA10, NEU2, NEU4, NGEF, NHEJ1, NMUR1, NPPC, NYAP2, OBSL1, OR6B2, OR6B3, OTOS, PASK, PAX3, PDCD1, PDE6D, PECR, PER2, PID1, PLCD4, PNKD, PPP1R7, PRKAG3, PRLH, PRR21, PRSS56, PSMD1, PTMA, PTPRN, RAB17, RAMP1, RBM44, RESP18, RETREG2, RHBDD1, RNF25, RNPEPL1, RPL37A, RPL37A-DT, RTP5, RUFY4, SAG, SCARNA5, SCARNA6, SCG2, SCLY, SCYGR1, SCYGR10, SCYGR2, SCYGR3, SCYGR4, SCYGR5, SCYGR6, SCYGR7, SCYGR8, SEPTIN2, SERPINE2, SGPP2, SH3BP4, SLC11A1, SLC16A14, SLC19A3, SLC23A3, SLC4A3, SMARCAL1, SNED1, SNED1-AS1, SNHG31, SNORA115, SNORA70I, SNORA75, SNORC, SNORD20, SNORD82, SP100, SP110, SP140, SP140L, SPAG16, SPAG16-DT, SPATA3, SPATA3-AS1, SPEG, SPEGNB, SPHKAP, SPP2, STK11IP, STK16, STK25, STK36, TEX44, THAP4, TIGD1, TM4SF20, TMBIM1, TMEM169, TMEM198, TNP1, TNRC17, TNS1, TNS1-AS1, TRAF3IP1, TRIP12, TRPM8, TRY-ATA1-1, TTLL4, TUBA4A, TUBA4B, TWIST2, UBE2F, UBE2F-SCLY, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UICLM, USP37, USP40, VIL1, VWC2L, VWC2L-IT1, WDFY1, WNT10A, WNT6, XRCC5, ZFAND2B, ZNF142, AAMP, ABCA12, ABCB6, ACKR3, ACSL3, ACSL3-AS1, AGAP1, AGAP1-IT1, AGFG1, AGXT, ALPG, ALPI, ALPP, ANKMY1, ANKZF1, ANO7, AP1S3, AQP12A, AQP12B, ARL4C, ARMC9, ARPC2, ASB1, ASB18, ASIC4, ASIC4-AS1, ATG16L1, ATG4B, ATG9A, ATIC, B3GNT7, CAB39, BARD1, BCS1L, BOK, BOK-AS1, C2orf72, C2orf83, CAPN10, CAPN10-DT, CATIP, CATIP-AS1, CATIP-AS2, CCDC140, CCDC195, CCL20, CDK5R2, CFAP65, CHPF, CHRND, CHRNG, CNOT9, CNPPD1, COL4A3, COL4A4, COL6A3, COPS7B, COPS8, COPS9, CPS1, CPS1-IT1, CROCC2, CRYBA2, CT75, CTDSP1, CUL3, CXCR1, CXCR2, CYP27A1, D2HGDH, DAW1, DES, DES-LCR, DGKD, DIRC3, DIRC3-AS1, DIS3L2, DNAJB2, DNAJB3, DNER, DNPEP, DNPEP-AS1, DOCK10, DTYMK, DUSP28, ECEL1, EFHD1, EIF4E2, EPHA4, ERBB4, ERFE, ESPNL, FAM124B, FAM240C, FARP2, FARSB, FBXO36, FEV, FN1, FN1-DT, GAL3ST2, GBX2, GCSIR, GIGYF2, GLB1L, GMPPA, GPBAR1, GPC1, GPR35, GPR55, HDAC4, HDAC4-AS1, HDLBP, HES6, HJURP, HTR2B, IGFBP-AS1, IGFBP2, IGFBP5, IHH, IKZF2, ILKAP, ING5, INHA, INPP5D, IQCA1, IRS1, ITM2C, KCNE4, KCNJ13, KIF1A, KLHL30, LINC00471, LINC00607, LINC00608, LINC01107, LINC01173, LINC01237, LINC01238, LINC01280, LINC01494, LINC01614, LINC01803, LINC01807, LINC01878, LINC01880, LINC01881, LINC01891, LINC01907, LINC01921, LINC01937, LINC01940, LINC01953, LINC01963, LINC02610, LINC02832, LOC100128563, LOC100129175, LOC100130449, LOC100287387, LOC101927509, LOC101928881, LOC102724849, LOC105373876, LOC106783501, LOC107980445, LOC108348027, LOC108353814, LOC108353815, LOC110120629, LOC110120691, LOC110120803, LOC110121128, LOC110121148, LOC110121169, LOC110121201, LOC110121204, LOC110121227, LOC110121229, LOC110121230, LOC110121236, LOC110121267, LOC110599582, LOC111501760, LOC111501790, LOC111828511, LOC111828512, LOC112806075, LOC112806076, LOC112806077, LOC112806078, LOC112806079, LOC112806080, LOC112806081, LOC112840900, LOC112840901, LOC112840902, LOC112840903, LOC112840904, LOC112840905, LOC112840906, LOC112840908, LOC112840909, LOC112840910, LOC112840911, LOC112840912, LOC112840913, LOC112840914, LOC112840915, LOC112840918, LOC112840919, LOC112840920, LOC114004367, LOC114004368, LOC114004369, LOC115947633, LOC115947634, LOC115947635, LOC115947636, LOC115947637, LOC115947638, LOC115947639, LOC115947640, LOC120977020, LOC120977021, LOC120977022, LOC120977023, LOC120977024, LOC120977025, LOC121009626, LOC121009627, LOC121009628, LOC121009629, LOC121009630, LOC121009631, LOC121009632, LOC121009633, LOC121009634, LOC121009635, LOC121725111, LOC121725112, LOC121725113, LOC121725114, LOC121725115, LOC121725116, LOC121725117, LOC121725118, LOC121725119, LOC121725120, LOC121725121, LOC121725122, LOC121725123, LOC121725124, LOC121725125, LOC121725126, LOC122319436, LOC122861287, LOC122861288, LOC122861289, LOC122861290, LOC122861291, LOC122861292, LOC122861293, LOC122861294, LOC122861295, LOC122861296, LOC122861297, LOC122861298, LOC122861299, LOC122861300, LOC122861301, LOC122861302, LOC122861303, LOC122861304, LOC122861305, LOC122861306, LOC122861307, LOC122861308, LOC122861309, LOC122861310, LOC122861311, LOC122861312, LOC122861313, LOC122861314, LOC122861315, LOC122861316, LOC122861317, LOC122861318, LOC122861319, LOC122861320, LOC122889004, LOC122889005, LOC122889006, LOC122889007, LOC122889008, LOC122889009, LOC122889010, LOC122889011, LOC122889012, LOC122889013, LOC122889014, LOC122889015, LOC122889016, LOC150935, LOC285097, LOC285191, LOC401040, LOC646736, LOC729968, LOC93463, LRRFIP1, MAB21L4, MARCHF4, MFF, MFF-DT, MGC16025, MIR1244-1, MIR1471, MIR149, MIR153-1, MIR2467, MIR26B, MIR3131, MIR3132, MIR3133, MIR375, MIR4268, MIR4269, MIR4438, MIR4439, MIR4440, MIR4441, MIR4776-1, MIR4776-2, MIR4777, MIR4786, MIR5001, MIR548F2, MIR562, MIR5702, MIR5703, MIR6513, MIR6809, MIR6810, MIR6811, MIR9500, MLPH, MOGAT1, MREG, MROH2A, MRPL44
See casesPathogenic
(Aug 5, 2011)
no assertion criteria providedVCV000146683
7.
GRCh37:
Chr2:216773135-217545048
GRCh38:
Chr2:215908412-216680325
See casesLikely benign
(Oct 7, 2011)
no assertion criteria providedVCV000150323
8.
GRCh37:
Chr2:217131569-217647069
GRCh38:
Chr2:216266846-216782346
IGFBP-AS1, IGFBP2, IGFBP5, LINC01280, LOC112806077, LOC122861290, MARCHF4, RPL37A, RPL37A-DT, SMARCAL1See casesconflicting data from submitters
(Jul 21, 2014)
no assertion criteria providedVCV000153437
9.
GRCh37:
Chr2:217277151
GRCh38:
Chr2:216412428
LOC112806077, SMARCAL1Schimke immuno-osseous dysplasiaUncertain significance
(Feb 16, 2018)
criteria provided, single submitterVCV000898338
10.
GRCh37:
Chr2:217277167
GRCh38:
Chr2:216412444
LOC112806077, SMARCAL1Schimke immuno-osseous dysplasiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000895358
11.
GRCh37:
Chr2:217277205
GRCh38:
Chr2:216412482
LOC112806077, SMARCAL1Schimke immuno-osseous dysplasiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000895359
12.
GRCh37:
Chr2:217277249
GRCh38:
Chr2:216412526
LOC112806077, SMARCAL1Schimke immuno-osseous dysplasiaBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000334280
13.
GRCh37:
Chr2:217277267
GRCh38:
Chr2:216412544
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Apr 27, 2017)
criteria provided, single submitterVCV000334281
14.
GRCh37:
Chr2:217277297
GRCh38:
Chr2:216412574
SMARCAL1Schimke immuno-osseous dysplasiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000334282
15.
GRCh37:
Chr2:217277303
GRCh38:
Chr2:216412580
SMARCAL1Schimke immuno-osseous dysplasiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000334283
16.
GRCh37:
Chr2:217277326
GRCh38:
Chr2:216412603
SMARCAL1Schimke immuno-osseous dysplasiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000334284
17.
GRCh37:
Chr2:217277330
GRCh38:
Chr2:216412607
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Apr 27, 2017)
criteria provided, single submitterVCV000334285
18.
GRCh37:
Chr2:217277353
GRCh38:
Chr2:216412630
SMARCAL1Schimke immuno-osseous dysplasiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000334286
19.
GRCh37:
Chr2:217278592
GRCh38:
Chr2:216413869
SMARCAL1Schimke immuno-osseous dysplasiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000334287
20.
GRCh37:
Chr2:217279116
GRCh38:
Chr2:216414393
SMARCAL1not providedBenign
(Nov 12, 2018)
criteria provided, single submitterVCV001287616
21.
GRCh37:
Chr2:217279160
GRCh38:
Chr2:216414437
SMARCAL1not providedBenign
(May 4, 2020)
criteria provided, single submitterVCV001259167
22.
GRCh37:
Chr2:217279380
GRCh38:
Chr2:216414657
SMARCAL1Schimke immuno-osseous dysplasiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000334288
23.
GRCh37:
Chr2:217279418-217281040
GRCh38:
Chr2:216414695-216416317
SMARCAL1Schimke immuno-osseous dysplasiaPathogenic
(Jul 30, 2019)
criteria provided, single submitterVCV000652386
24.
GRCh37:
Chr2:217279476
GRCh38:
Chr2:216414753
SMARCAL1R17*Schimke immuno-osseous dysplasiaPathogenic
(Apr 11, 2019)
criteria provided, single submitterVCV000004172
25.
GRCh37:
Chr2:217279494
GRCh38:
Chr2:216414771
SMARCAL1R23CSchimke immuno-osseous dysplasiaUncertain significance
(Jun 24, 2019)
criteria provided, single submitterVCV000951652
26.
GRCh37:
Chr2:217279495
GRCh38:
Chr2:216414772
SMARCAL1R23HSchimke immuno-osseous dysplasiaUncertain significance
(Jan 30, 2020)
criteria provided, single submitterVCV001034643
27.
GRCh37:
Chr2:217279496
GRCh38:
Chr2:216414773
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Nov 9, 2019)
criteria provided, single submitterVCV000797322
28.
GRCh37:
Chr2:217279499
GRCh38:
Chr2:216414776
SMARCAL1Schimke immuno-osseous dysplasiaBenign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000334289
29.
GRCh37:
Chr2:217279503
GRCh38:
Chr2:216414780
SMARCAL1E26KSchimke immuno-osseous dysplasiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000334290
30.
GRCh37:
Chr2:217279514
GRCh38:
Chr2:216414791
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Jul 27, 2020)
criteria provided, single submitterVCV001114687
31.
GRCh37:
Chr2:217279519
GRCh38:
Chr2:216414796
SMARCAL1E31GSchimke immuno-osseous dysplasiaUncertain significance
(Oct 7, 2020)
criteria provided, single submitterVCV001007534
32.
GRCh37:
Chr2:217279527
GRCh38:
Chr2:216414804
SMARCAL1Q34*Schimke immuno-osseous dysplasiaPathogenic
(Feb 1, 2002)
no assertion criteria providedVCV000004173
33.
GRCh37:
Chr2:217279535
GRCh38:
Chr2:216414812
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Aug 19, 2019)
criteria provided, single submitterVCV001149244
34.
GRCh37:
Chr2:217279536
GRCh38:
Chr2:216414813
SMARCAL1S37GSchimke immuno-osseous dysplasiaUncertain significance
(Oct 3, 2020)
criteria provided, single submitterVCV001058549
35.
GRCh37:
Chr2:217279538
GRCh38:
Chr2:216414815
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Oct 2, 2019)
criteria provided, single submitterVCV001138465
36.
GRCh37:
Chr2:217279541
GRCh38:
Chr2:216414818
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Oct 2, 2020)
criteria provided, single submitterVCV001122952
37.
GRCh37:
Chr2:217279541
GRCh38:
Chr2:216414818
SMARCAL1not providedUncertain significance
(Jan 19, 2017)
criteria provided, single submitterVCV000499438
38.
GRCh37:
Chr2:217279544
GRCh38:
Chr2:216414821
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Nov 26, 2020)
criteria provided, single submitterVCV000791007
39.
GRCh37:
Chr2:217279551
GRCh38:
Chr2:216414828
SMARCAL1I42VSchimke immuno-osseous dysplasiaBenign
(Nov 11, 2020)
criteria provided, single submitterVCV001167494
40.
GRCh37:
Chr2:217279554
GRCh38:
Chr2:216414831
SMARCAL1A43Tnot specified, Schimke immuno-osseous dysplasia, not provided
Benign/Likely benign
(Dec 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000260337
41.
GRCh37:
Chr2:217279583
GRCh38:
Chr2:216414860
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Sep 1, 2020)
criteria provided, single submitterVCV001130044
42.
GRCh37:
Chr2:217279606
GRCh38:
Chr2:216414883
SMARCAL1E60ASchimke immuno-osseous dysplasiaUncertain significance
(May 4, 2018)
criteria provided, single submitterVCV000568006
43.
GRCh37:
Chr2:217279613
GRCh38:
Chr2:216414890
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Jun 23, 2020)
criteria provided, single submitterVCV001103865
44.
GRCh37:
Chr2:217279616
GRCh38:
Chr2:216414893
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Nov 13, 2020)
criteria provided, single submitterVCV000764279
45.
GRCh37:
Chr2:217279619
GRCh38:
Chr2:216414896
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Sep 9, 2020)
criteria provided, single submitterVCV001092835
46.
GRCh37:
Chr2:217279648
GRCh38:
Chr2:216414925
SMARCAL1Q74RSchimke immuno-osseous dysplasiaUncertain significance
(May 15, 2020)
criteria provided, single submitterVCV001040727
47.
GRCh37:
Chr2:217279663
GRCh38:
Chr2:216414940
SMARCAL1S79LSchimke immuno-osseous dysplasiaUncertain significance
(Sep 11, 2019)
criteria provided, single submitterVCV000935216
48.
GRCh37:
Chr2:217279675-217279676
GRCh38:
Chr2:216414952-216414953
SMARCAL1Q84fsSchimke immuno-osseous dysplasiaLikely pathogenic
(Aug 4, 2018)
criteria provided, single submitterVCV000870377
49.
GRCh37:
Chr2:217279685
GRCh38:
Chr2:216414962
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Oct 8, 2020)
criteria provided, single submitterVCV000800134
50.
GRCh37:
Chr2:217279695-217279696
GRCh38:
Chr2:216414972-216414973
SMARCAL1H90fsSchimke immuno-osseous dysplasiaPathogenic
(Dec 17, 2018)
criteria provided, single submitterVCV000642307
51.
GRCh37:
Chr2:217279697
GRCh38:
Chr2:216414974
SMARCAL1Schimke immuno-osseous dysplasiaBenign
(Jul 9, 2020)
criteria provided, single submitterVCV001169941
52.
GRCh37:
Chr2:217279706
GRCh38:
Chr2:216414983
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Jan 23, 2020)
criteria provided, single submitterVCV001118891
53.
GRCh37:
Chr2:217279756-217279757
GRCh38:
Chr2:216415033-216415034
SMARCAL1R114fsSchimke immuno-osseous dysplasiaPathogenic
(Aug 2, 2019)
criteria provided, single submitterVCV000941165
54.
GRCh37:
Chr2:217279757
GRCh38:
Chr2:216415034
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Sep 25, 2020)
criteria provided, single submitterVCV001103256
55.
GRCh37:
Chr2:217279760
GRCh38:
Chr2:216415037
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Apr 26, 2020)
criteria provided, single submitterVCV001162158
56.
GRCh37:
Chr2:217279767
GRCh38:
Chr2:216415044
SMARCAL1R114Gnot provided, Schimke immuno-osseous dysplasiaConflicting interpretations of pathogenicity
(Nov 7, 2020)
criteria provided, conflicting interpretationsVCV000196458
57.
GRCh37:
Chr2:217279768
GRCh38:
Chr2:216415045
SMARCAL1R114Hnot specified, not provided, Schimke immuno-osseous dysplasia
Benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000196456
58.
GRCh37:
Chr2:217279791
GRCh38:
Chr2:216415068
SMARCAL1I122VSchimke immuno-osseous dysplasiaUncertain significance
(Jun 27, 2019)
criteria provided, single submitterVCV000935546
59.
GRCh37:
Chr2:217279792-217279793
GRCh38:
Chr2:216415069-216415070
SMARCAL1P124fsSchimke immuno-osseous dysplasiaLikely pathogenic
(Jun 20, 2019)
criteria provided, single submitterVCV000804394
60.
GRCh37:
Chr2:217279806
GRCh38:
Chr2:216415083
SMARCAL1A127PSchimke immuno-osseous dysplasiaUncertain significance
(Jul 17, 2019)
criteria provided, single submitterVCV000969532
61.
GRCh37:
Chr2:217279809
GRCh38:
Chr2:216415086
SMARCAL1Q128ESchimke immuno-osseous dysplasiaUncertain significance
(Jun 29, 2020)
no assertion criteria providedVCV000991594
62.
GRCh37:
Chr2:217279814
GRCh38:
Chr2:216415091
SMARCAL1not provided, Schimke immuno-osseous dysplasiaLikely benign
(Jul 19, 2018)
criteria provided, single submitterVCV000763269
63.
GRCh37:
Chr2:217279835
GRCh38:
Chr2:216415112
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Apr 30, 2019)
criteria provided, single submitterVCV000750145
64.
GRCh37:
Chr2:217279836
GRCh38:
Chr2:216415113
SMARCAL1Q137*Schimke immuno-osseous dysplasiaPathogenic
(Mar 18, 2020)
criteria provided, single submitterVCV001074524
65.
GRCh37:
Chr2:217279842-217279843
GRCh38:
Chr2:216415119-216415120
SMARCAL1L139fsSchimke immuno-osseous dysplasia, not providedPathogenic
(Sep 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000598612
66.
GRCh37:
Chr2:217279849
GRCh38:
Chr2:216415126
SMARCAL1Y141CSchimke immuno-osseous dysplasiaUncertain significance
(Mar 13, 2019)
criteria provided, single submitterVCV000843968
67.
GRCh37:
Chr2:217279850
GRCh38:
Chr2:216415127
SMARCAL1not specified, Schimke immuno-osseous dysplasia, not provided
Benign/Likely benign
(Jun 10, 2021)
criteria provided, multiple submitters, no conflictsVCV000260344
68.
GRCh37:
Chr2:217279853
GRCh38:
Chr2:216415130
SMARCAL1not provided, Schimke immuno-osseous dysplasiaLikely benign
(Dec 18, 2018)
criteria provided, single submitterVCV000796955
69.
GRCh37:
Chr2:217279859
GRCh38:
Chr2:216415136
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Jan 31, 2020)
criteria provided, single submitterVCV001105150
70.
GRCh37:
Chr2:217279872
GRCh38:
Chr2:216415149
SMARCAL1Q149*Schimke immuno-osseous dysplasiaPathogenic
(Oct 5, 2019)
criteria provided, single submitterVCV000967180
71.
GRCh37:
Chr2:217279875
GRCh38:
Chr2:216415152
SMARCAL1A150SSchimke immuno-osseous dysplasiaUncertain significance
(Jul 12, 2020)
criteria provided, single submitterVCV001009287
72.
GRCh37:
Chr2:217279915
GRCh38:
Chr2:216415192
SMARCAL1T163NSchimke immuno-osseous dysplasiaUncertain significance
(Oct 15, 2018)
criteria provided, single submitterVCV000640969
73.
GRCh37:
Chr2:217279926
GRCh38:
Chr2:216415203
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Jun 26, 2020)
criteria provided, single submitterVCV001090945
74.
GRCh37:
Chr2:217279933
GRCh38:
Chr2:216415210
SMARCAL1K169RSchimke immuno-osseous dysplasia, not providedUncertain significance
(Oct 19, 2020)
criteria provided, multiple submitters, no conflictsVCV000497427
75.
GRCh37:
Chr2:217279937
GRCh38:
Chr2:216415214
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Jan 13, 2020)
criteria provided, single submitterVCV001108090
76.
GRCh37:
Chr2:217279954
GRCh38:
Chr2:216415231
SMARCAL1T176Rnot providedUncertain significance
(Sep 4, 2015)
criteria provided, single submitterVCV000282581
77.
GRCh37:
Chr2:217279959
GRCh38:
Chr2:216415236
SMARCAL1A178SSchimke immuno-osseous dysplasiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000897245
78.
GRCh37:
Chr2:217279973
GRCh38:
Chr2:216415250
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Dec 3, 2019)
criteria provided, single submitterVCV001137153
79.
GRCh37:
Chr2:217279976
GRCh38:
Chr2:216415253
SMARCAL1Q183HSchimke immuno-osseous dysplasiaUncertain significance
(Oct 28, 2019)
criteria provided, single submitterVCV000958538
80.
GRCh37:
Chr2:217279980
GRCh38:
Chr2:216415257
SMARCAL1P185SSchimke immuno-osseous dysplasiaUncertain significance
(Apr 12, 2020)
criteria provided, single submitterVCV001062633
81.
GRCh37:
Chr2:217279992
GRCh38:
Chr2:216415269
SMARCAL1K189ESchimke immuno-osseous dysplasiaUncertain significance
(May 3, 2018)
criteria provided, single submitterVCV000568780
82.
GRCh37:
Chr2:217280024
GRCh38:
Chr2:216415301
SMARCAL1not provided, Schimke immuno-osseous dysplasiaLikely benign
(Jul 21, 2020)
criteria provided, single submitterVCV000762587
83.
GRCh37:
Chr2:217280027
GRCh38:
Chr2:216415304
SMARCAL1Schimke immuno-osseous dysplasiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000334291
84.
GRCh37:
Chr2:217280030
GRCh38:
Chr2:216415307
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Sep 2, 2020)
criteria provided, single submitterVCV001080552
85.
GRCh37:
Chr2:217280030
GRCh38:
Chr2:216415307
SMARCAL1not specified, Schimke immuno-osseous dysplasiaBenign/Likely benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000260345
86.
GRCh37:
Chr2:217280036
GRCh38:
Chr2:216415313
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Apr 9, 2019)
criteria provided, single submitterVCV001118141
87.
GRCh37:
Chr2:217280036
GRCh38:
Chr2:216415313
SMARCAL1N203fsSchimke immuno-osseous dysplasiaPathogenic
(Apr 1, 2020)
criteria provided, single submitterVCV001071628
88.
GRCh37:
Chr2:217280063
GRCh38:
Chr2:216415340
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Jan 13, 2020)
criteria provided, single submitterVCV001154789
89.
GRCh37:
Chr2:217280067-217280068
GRCh38:
Chr2:216415344-216415345
SMARCAL1T215fsSchimke immuno-osseous dysplasiaPathogenic
(Oct 20, 2020)
criteria provided, single submitterVCV001074171
90.
GRCh37:
Chr2:217280072
GRCh38:
Chr2:216415349
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Oct 7, 2020)
criteria provided, single submitterVCV001155653
91.
GRCh37:
Chr2:217280093
GRCh38:
Chr2:216415370
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Jan 24, 2020)
criteria provided, single submitterVCV001128249
92.
GRCh37:
Chr2:217280096
GRCh38:
Chr2:216415373
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Nov 22, 2020)
criteria provided, single submitterVCV001109643
93.
GRCh37:
Chr2:217280102
GRCh38:
Chr2:216415379
SMARCAL1not provided, Schimke immuno-osseous dysplasiaConflicting interpretations of pathogenicity
(Oct 31, 2020)
criteria provided, conflicting interpretationsVCV000196457
94.
GRCh37:
Chr2:217280104
GRCh38:
Chr2:216415381
SMARCAL1S226LSchimke immuno-osseous dysplasiaUncertain significance
(Jun 4, 2019)
criteria provided, single submitterVCV000840659
95.
GRCh37:
Chr2:217280114
GRCh38:
Chr2:216415391
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV001094220
96.
GRCh37:
Chr2:217280117
GRCh38:
Chr2:216415394
SMARCAL1not provided, Schimke immuno-osseous dysplasiaLikely benign
(Mar 29, 2020)
criteria provided, single submitterVCV000799435
97.
GRCh37:
Chr2:217280120
GRCh38:
Chr2:216415397
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Sep 13, 2019)
criteria provided, single submitterVCV001082968
98.
GRCh37:
Chr2:217280120
GRCh38:
Chr2:216415397
SMARCAL1Q231HSchimke immuno-osseous dysplasiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000897246
99.
GRCh37:
Chr2:217280144
GRCh38:
Chr2:216415421
SMARCAL1not provided, Schimke immuno-osseous dysplasiaLikely benign
(Oct 24, 2018)
criteria provided, single submitterVCV000793265
100.
GRCh37:
Chr2:217280147
GRCh38:
Chr2:216415424
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Mar 14, 2020)
criteria provided, single submitterVCV001105499
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