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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr16:73141-11390552
GRCh38:
Chr16:23141-11296695
LOC113939951, CHTF18, ZNF75A, TSC2, NTN3, TPSG1, LOC105371049, CASKIN1, LOC121847969, GLIS2, FAM234A, CLCN7, HS3ST6, MIR4717, TRP-AGG1-1, ELOB, MIR3177, RPL3L, DNASE1, TEKT5, RHBDL1, PRSS27, PPL, LOC121530611, PRM1, LINC02124, TPSAB1, MIR1225, RNF151, TRP-TGG3-4, LOC121530609, MIR8065, TMEM186, BAIAP3, ZNF200, HMOX2, LOC121530615, RBFOX1, C16orf72, SRL, TVP23A, CLEC16A, RAB26, MLST8, ATF7IP2, LOC111188163, LINC00254, RGS11, SLX4, LOC112340387, PRSS21, LOC105371038, TEDC2-AS1, MTRNR2L4, LINC01570, TRP-TGG3-3, HBZ, PDIA2, LOC121847968, NHLRC4, NAGPA, TRK-CTT5-1, LUC7L, NMRAL1, NPW, NPRL3, PRSS22, MIR662, SLC9A3R2, LINC01177, CDIP1, LOC100130283, SRRM2, LOC105371046, LITAFD, JMJD8, USP7, CACNA1H, FBXL16, ZNF213, ROGDI, LMF1, ANTKMT, PGP, ATP6V0C, MPG, RHOT2, MAPK8IP3, MSRB1, MMP25-AS1, GRIN2A, LOC116276445, LINC01569, CLDN6, ANKS3, SNRNP25, LOC121530616, PRM3, RAB40C, TSR3, LOC112441450, GFER, TEDC2, MIR6768, LOC116268480, PRR25, HBA-LCR, OR1F1, TRK-CTT4-1, CARHSP1, LOC115253417, FLYWCH1, ADCY9, TMEM204, NLRC3, MIR3176, NOXO1, MIR6126, LOC112486226, AMDHD2, ZSCAN32, TRK-CTT3-1, LOC113939950, GNG13, MRPS34, CLUAP1, LOC116276446, HBQ1, MIR3677HG, PRM2, CIAO3, ZNF263, CEROX1, LOC100134368, PTX4, DNAJA3, MSLN, TRP-AGG2-7, LOC121530612, LINC01195, ZNF174, PKMYT1, TRR-CCT3-1, LOC121530614, MIR4516, ZSCAN10, LOC116276447, ABAT, GLIS2-AS1, WDR24, GLYR1, ZNF500, LINC00235, PGAP6, BICDL2, MCRIP2, STUB1, JPT2, WDR90, PIGQ, IGFALS, PRSS41, HCFC1R1, MIR5587, ZNF597, FLYWCH2, LINC02861, LINC01290, LOC100287175, LOC112340386, SPSB3, RAB11FIP3, TRAF7, NUBP2, LOC121847967, TNFRSF12A, MIR3180-5, FLJ42627, ALG1, SSTR5-AS1, IL32, IFT140, TELO2, MEIOB, LOC121530608, CAPN15, LOC112296179, RHBDF1, TRG-CCC2-2, GNPTG, SNHG19, LOC101929613, PRSS33, LOC106804613, SEC14L5, TRR-CCG1-3, SOCS1, METTL22, MIR3178, SOX8, NME3, LINC02152, TRR-CCT5-1, WASIR2, NME4, MIR6767, TIGD7, PRR35, LOC112486224, LOC112486225, EEF2KMT, PERCC1, KREMEN2, MIR940, HBM, DNASE1L2, METRN, TFAP4, SYNGR3, OR2C1, SRRM2-AS1, TPSD1, MRPL28, LINC02164, TRP-CGG1-2, TBC1D24, ABCA3, LOC121530607, AXIN1, HAGHL, SNORD60, THOC6, NUDT16L1, USP7-AS1, MMP25, MIR6511B1, CCDC78, RNPS1, MIR6769A, LOC110596865, SNORA78, DNAAF8, ZG16B, PMM2, NAA60, SMIM22, CIITA, LOC106783500, CREBBP, PAQR4, LOC107522031, SSTR5, PAM16, NAGPA-AS1, ZNF598, KCTD5, EMP2, HBA1, ZNF213-AS1, TMEM114, LOC121530613, ZNF205, LOC106804612, SNORA10, TBL3, MGRN1, ERVK13-1, TNP2, LOC100128770, PDPK1, ECI1, LOC121530610, EME2, MEFV, UBE2I, NUBP1, SNHG9, LINC02177, CCNF, TRAP1, TRP-TGG3-5, C16orf89, LOC111776217, MIR3677, SNORA64, CORO7, HBA2, CEMP1, NDUFB10, UBN1, TRK-CTT2-5, LOC121530617, LINC00921, TPSB2, E4F1, POLR3K, DEXI, LOC106799915, C16orf90, LOC110596863, LOC112441449, WFIKKN1, PKD1, DECR2, FAHD1, CORO7-PAM16, LOC121530606, BRICD5, LOC112340388, C1QTNF8, LMF1-AS1, TRP-AGG2-8, HAGH, ARHGDIG, CLDN9, RPUSD1, SEPTIN12, METTL26, NTHL1, UBALD1, C16orf91, ZNF205-AS1, UNKL, SNORA3C, LOC110121335, VASN, RPS2, CRAMP1, GREP1, C16orf96, CCDC154
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058594
2.
GRCh37:
Chr16:79941-2610461
GRCh38:
Chr16:29941-2560460
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058595
3.
GRCh37:
Chr16:93732-13420663
GRCh38:
Chr16:43732-13326806
ABAT, ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATF7IP2, ATP6V0C, AXIN1, BAIAP3, BCAR4, BICDL2, BRICD5, C16orf72, C16orf89, C16orf90, C16orf91, C16orf96, C1QTNF8, CACNA1H, CAPN15, CARHSP1, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CEROX1, CHTF18, CIAO3, CIITA, CLCN7, CLDN6, CLDN9, CLEC16A, CLUAP1, CORO7, CORO7-PAM16, CPPED1, CRAMP1, CREBBP, DECR2, DEXI, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, EEF2KMT, ELOB, EME2, EMP2, ERVK13-1, FAHD1, FAM234A, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GLIS2, GLIS2-AS1, GLYR1, GNG13, GNPTG, GREP1, GRIN2A, GSPT1, HAGH, HAGHL, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00235, LINC00254, LINC00921, LINC01177, LINC01195, LINC01290, LINC01569, LINC01570, LINC02124, LINC02152, LINC02164, LINC02177, LINC02861, LITAF, LITAFD, LMF1, LMF1-AS1, LOC100128770, LOC100130283, LOC100134368, LOC100287175, LOC101927131, LOC101929613, LOC105371038, LOC105371046, LOC105371049, LOC105371083, LOC106783500, LOC106799840, LOC106799915, LOC106804612, LOC106804613, LOC107522031, LOC110121335, LOC110596863, LOC110596865, LOC111188163, LOC111776217, LOC112296179, LOC112296180, LOC112296181, LOC112296182, LOC112296183, LOC112296184, LOC112296185, LOC112296186, LOC112296187, LOC112296188, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC112441450, LOC112486224, LOC112486225, LOC112486226, LOC113939950, LOC113939951, LOC115253417, LOC116268480, LOC116276445, LOC116276446, LOC116276447, LOC116276448, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121530613, LOC121530614, LOC121530615, LOC121530616, LOC121530617, LOC121530618, LOC121530619, LOC121847967, LOC121847968, LOC121847969, LOC121847970, LOC400499, LUC7L, MAPK8IP3, MCRIP2, MEFV, MEIOB, METRN, METTL22, METTL26, MGRN1, MIR1225, MIR3176, MIR3177, MIR3178, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR4718, MIR548H2, MIR5587, MIR6126, MIR6511B1, MIR662, MIR6767, MIR6768, MIR6769A, MIR8065, MIR940, MLST8, MMP25, MMP25-AS1, MPG, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NAGPA, NAGPA-AS1, NDUFB10, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPIPB2, NPRL3, NPW, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PDIA2, PDPK1, PERCC1, PGAP6, PGP, PIGQ, PKD1, PKMYT1, PMM2, POLR3K, PPL, PRM1, PRM2, PRM3, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RBFOX1, RGS11, RHBDF1, RHBDL1, RHOT2, RMI2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, RSL1D1, RSL1D1-DT, SEC14L5, SEPTIN12, SHISA9, SLC9A3R2, SLX4, SMIM22, SNHG19, SNHG9, SNN, SNORA10, SNORA3C, SNORA64, SNORA78, SNORD60, SNRNP25, SNX29, SOCS1, SOX8, SPSB3, SRL, SRRM2, SRRM2-AS1, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TEKT5, TELO2, TFAP4, THOC6, TIGD7, TMEM114, TMEM186, TMEM204, TNFRSF12A, TNFRSF17, TNP2, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TRG-CCC2-2, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, TSC2, TSR3, TVP23A, TXNDC11, UBALD1, UBE2I, UBN1, UNKL, USP7, USP7-AS1, VASN, WDR24, WDR90, WFIKKN1, ZC3H7A, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000150284
4.
GRCh37:
Chr16:96766-4297186
GRCh38:
Chr16:46766-4247185
ABCA3, ADCY9, AMDHD2, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf90, C16orf91, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CEMP1, CEROX1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CLUAP1, CRAMP1, CREBBP, DECR2, DNASE1, DNASE1L2, E4F1, ECI1, ELOB, EME2, ERVK13-1, FAHD1, FAM234A, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GNG13, GNPTG, GREP1, HAGH, HAGHL, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00235, LINC00254, LINC00921, LINC01569, LINC02124, LINC02861, LMF1, LMF1-AS1, LOC100128770, LOC100134368, LOC100287175, LOC101929613, LOC105371038, LOC105371046, LOC105371049, LOC106783500, LOC106799915, LOC106804612, LOC106804613, LOC110596863, LOC110596865, LOC111188163, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC113939950, LOC115253417, LOC116268480, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121530613, LOC121847967, LOC121847968, LUC7L, MAPK8IP3, MCRIP2, MEFV, MEIOB, METRN, METTL26, MIR1225, MIR3176, MIR3177, MIR3178, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR5587, MIR6126, MIR6511B1, MIR662, MIR6767, MIR6768, MIR940, MLST8, MMP25, MMP25-AS1, MPG, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NDUFB10, NHLRC4, NLRC3, NME3, NME4, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP2, OR1F1, OR2C1, PAQR4, PDIA2, PDPK1, PERCC1, PGAP6, PGP, PIGQ, PKD1, PKMYT1, POLR3K, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDF1, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SLC9A3R2, SLX4, SNHG19, SNHG9, SNORA10, SNORA3C, SNORA64, SNORA78, SNORD60, SNRNP25, SOX8, SPSB3, SRL, SRRM2, SRRM2-AS1, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TELO2, THOC6, TIGD7, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TRG-CCC2-2, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, TSC2, TSR3, UBE2I, UNKL, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000147509
5.
GRCh37:
Chr16:96766-11619372
GRCh38:
Chr16:46766-11525516
TPSG1, TRAP1, TRG-CCC2-2, TRK-CTT5-1, TRP-AGG1-1, TRAF7, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, SNORA64, SNORA78, SNORD60, SNRNP25, SOCS1, SOX8, SPSB3, SRL, SRRM2, SRRM2-AS1, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TEKT5, TELO2, TFAP4, THOC6, TIGD7, TMEM114, TMEM186, TMEM204, TNFRSF12A, TNP2, TPSAB1, TPSB2, TPSD1, TRR-CCT5-1, TSC2, TSR3, TVP23A, UBALD1, UBE2I, UBN1, UNKL, USP7, USP7-AS1, VASN, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32, ABAT, ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATF7IP2, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf72, C16orf89, C16orf90, C16orf91, C16orf96, C1QTNF8, CACNA1H, CAPN15, CARHSP1, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CEROX1, CHTF18, CIAO3, CIITA, CLCN7, CLDN6, CLDN9, CLEC16A, CLUAP1, CORO7, CORO7-PAM16, CRAMP1, CREBBP, DECR2, DEXI, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, EEF2KMT, ELOB, EME2, EMP2, ERVK13-1, FAHD1, FAM234A, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GLIS2, GLIS2-AS1, GLYR1, GNG13, GNPTG, GREP1, GRIN2A, HAGH, HAGHL, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00235, LINC00254, LINC00921, LINC01177, LINC01195, LINC01290, LINC01569, LINC01570, LINC02124, LINC02152, LINC02164, LINC02177, LINC02861, LITAFD, LMF1, LMF1-AS1, LOC100128770, LOC100130283, LOC100134368, LOC100287175, LOC101927131, LOC101929613, LOC105371038, LOC105371046, LOC105371049, LOC105371083, LOC106783500, LOC106799915, LOC106804612, LOC106804613, LOC107522031, LOC110121335, LOC110596863, LOC110596865, LOC111188163, LOC111776217, LOC112296179, LOC112296180, LOC112296181, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC112441450, LOC112486224, LOC112486225, LOC112486226, LOC113939950, LOC113939951, LOC115253417, LOC116268480, LOC116276445, LOC116276446, LOC116276447, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121530613, LOC121530614, LOC121530615, LOC121530616, LOC121530617, LOC121847967, LOC121847968, LOC121847969, LOC400499, LUC7L, MAPK8IP3, MCRIP2, MEFV, MEIOB, METRN, METTL22, METTL26, MGRN1, MIR1225, MIR3176, MIR3177, MIR3178, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR548H2, MIR5587, MIR6126, MIR6511B1, MIR662, MIR6767, MIR6768, MIR6769A, MIR8065, MIR940, MLST8, MMP25, MMP25-AS1, MPG, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NAGPA, NAGPA-AS1, NDUFB10, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PDIA2, PDPK1, PERCC1, PGAP6, PGP, PIGQ, PKD1, PKMYT1, PMM2, POLR3K, PPL, PRM1, PRM2, PRM3, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RBFOX1, RGS11, RHBDF1, RHBDL1, RHOT2, RMI2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, SEC14L5, SEPTIN12, SLC9A3R2, SLX4, SMIM22, SNHG19, SNHG9, SNORA10, SNORA3C
See casesPathogenic
(Feb 28, 2010)
no assertion criteria providedVCV000144298
6.
GRCh37:
Chr16:96766-3264623
GRCh38:
Chr16:46766-3214623
GNG13, TRP-CGG1-2, TPSD1, RNF151, MIR662, CAPN15, ZNF213, HBA2, FAHD1, MCRIP2, TRP-AGG1-1, PKMYT1, LOC121530609, HAGHL, MIR6768, RAB26, LOC115253417, RHBDL1, LOC106783500, C16orf91, LOC112340388, TRR-CCT3-1, DECR2, TPSG1, SNORA78, TRK-CTT3-1, GFER, TSC2, POLR3K, ZNF205, MRPS34, IGFALS, TBC1D24, PGP, WFIKKN1, SSTR5-AS1, PAQR4, LOC112340386, TELO2, C1QTNF8, BRICD5, MIR3677, PIGQ, LOC121530608, NME3, LOC105371038, FLJ42627, LOC121530607, ECI1, SLC9A3R2, LOC100134368, UBE2I, CASKIN1, MIR5587, METRN, MLST8, TRK-CTT2-5, MIR3176, BAIAP3, NUBP2, PRSS21, TNFRSF12A, RHBDF1, PERCC1, MIR6511B1, METTL26, CEMP1, SNORA3C, KCTD5, SOX8, LOC100287175, TRP-TGG3-4, JPT2, LINC02124, LOC101929613, SYNGR3, MSRB1, NPRL3, MMP25-AS1, CCDC154, TRP-TGG3-3, CCNF, FLYWCH2, LOC106804612, TEDC2-AS1, MIR6767, HAGH, RHOT2, MIR1225, NME4, HCFC1R1, MAPK8IP3, LOC105371046, RPL3L, SSTR5, LINC00235, NDUFB10, NHLRC4, PRR35, SRRM2-AS1, MIR3178, RAB40C, SPSB3, MMP25, BICDL2, AXIN1, CHTF18, IFT140, PRSS33, CLDN9, TPSB2, LOC110596863, NPW, PRSS27, EME2, CRAMP1, RPS2, ARHGDIG, THOC6, FLYWCH1, MEIOB, LUC7L, NTN3, WDR24, LOC121530612, NOXO1, TRP-TGG3-5, ZNF213-AS1, MIR4516, OR1F1, PTX4, LOC106804613, MIR940, GREP1, MRPL28, STUB1, CACNA1H, ERVK13-1, ATP6V0C, ZNF205-AS1, ZNF598, HBA-LCR, PKD1, JMJD8, SRRM2, ANTKMT, TSR3, TRG-CCC2-2, CIAO3, LOC121847967, PRSS41, RAB11FIP3, LOC112340387, LOC121530610, WDR90, HS3ST6, TRK-CTT5-1, SNORA64, ZG16B, TRP-AGG2-8, MIR3180-5, LOC111188163, TRR-CCG1-3, LOC116268480, MIR3677HG, LOC121530606, SNORD60, E4F1, IL32, MIR4717, ELOB, LINC00254, LOC100128770, ABCA3, DNASE1L2, HBA1, CEROX1, LOC121530611, UNKL, FAM234A, SNHG9, TPSAB1, MPG, LOC110596865, LOC113939950, TRP-AGG2-7, HBM, TRK-CTT4-1, PRSS22, ZSCAN10, LOC105371049, TRAF7, GNPTG, PDPK1, KREMEN2, NTHL1, LOC106799915, MIR3177, FBXL16, TRR-CCT5-1, PRR25, CLDN6, PDIA2, PGAP6, SNRNP25, CCDC78, TBL3, RNPS1, LMF1-AS1, RPUSD1, AMDHD2, HBQ1, LOC112441449, LMF1, TMEM204, MSLN, RGS11, SNHG19, TEDC2, CLCN7, HBZ, SNORA10
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058597
7.
GRCh37:
Chr16:716662-15836961
GRCh38:
Chr16:666662-15743104
ABAT, ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ATF7IP2, ATP6V0C, BAIAP3, BCAR4, BFAR, BICDL2, BMERB1, BRICD5, C16orf72, C16orf89, C16orf90, C16orf91, C16orf96, C1QTNF8, CACNA1H, CARHSP1, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CEROX1, CHTF18, CIAO3, CIITA, CLCN7, CLDN6, CLDN9, CLEC16A, CLUAP1, CORO7, CORO7-PAM16, CPPED1, CRAMP1, CREBBP, DEXI, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, EEF2KMT, ELOB, EME2, EMP2, ERCC4, ERVK13-1, FAHD1, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GLIS2, GLIS2-AS1, GLYR1, GNG13, GNPTG, GREP1, GRIN2A, GSPT1, HAGH, HAGHL, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00254, LINC00921, LINC01177, LINC01195, LINC01290, LINC01569, LINC01570, LINC02124, LINC02130, LINC02152, LINC02164, LINC02177, LINC02185, LINC02186, LINC02861, LITAF, LITAFD, LMF1, LMF1-AS1, LOC100128770, LOC100130283, LOC100288162, LOC100505915, LOC101927131, LOC101929613, LOC105371046, LOC105371049, LOC105371083, LOC106783500, LOC106799840, LOC106799915, LOC107522031, LOC110121335, LOC110596863, LOC110596865, LOC111188163, LOC111464986, LOC111776217, LOC111822950, LOC111822951, LOC112296179, LOC112296180, LOC112296181, LOC112296182, LOC112296183, LOC112296184, LOC112296185, LOC112296186, LOC112296187, LOC112296188, LOC112296189, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340386, LOC112340387, LOC112340388, LOC112441450, LOC112486224, LOC112486225, LOC112486226, LOC113939948, LOC113939950, LOC113939951, LOC115253417, LOC116268480, LOC116276445, LOC116276446, LOC116276447, LOC116276448, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121530613, LOC121530614, LOC121530615, LOC121530616, LOC121530617, LOC121530618, LOC121530619, LOC121847967, LOC121847968, LOC121847969, LOC121847970, LOC121847971, LOC121847972, LOC121847973, LOC400499, MAPK8IP3, MARF1, MEFV, MEIOB, METRN, METTL22, MGRN1, MIR1225, MIR193B, MIR193BHG, MIR1972-1, MIR3177, MIR3178, MIR3179-1, MIR3180-1, MIR3180-4, MIR3180-5, MIR365A, MIR3670-1, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR4718, MIR484, MIR548H2, MIR6126, MIR6506, MIR6511A1, MIR6511B1, MIR6511B2, MIR662, MIR6767, MIR6768, MIR6769A, MIR6770-1, MIR8065, MIR940, MLST8, MMP25, MMP25-AS1, MPV17L, MRPS34, MRTFB, MSLN, MSRB1, MTRNR2L4, MYH11, NAA60, NAGPA, NAGPA-AS1, NDE1, NDUFB10, NLRC3, NME3, NMRAL1, NOMO1, NOXO1, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPB2, NPW, NTAN1, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PARN, PDPK1, PDXDC1, PERCC1, PGP, PKD1, PKMYT1, PLA2G10, PMM2, PPL, PRM1, PRM2, PRM3, PRR25, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB26, RBFOX1, RHBDL1, RHOT2, RMI2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, RRN3, RSL1D1, RSL1D1-DT, SEC14L5, SEPTIN12, SHISA9, SLC9A3R2, SLX4, SMIM22, SNHG19, SNHG9, SNN, SNORA10, SNORA3C, SNORA64, SNORA78, SNORD60, SNX29, SOCS1, SOX8, SPSB3, SRL, SRRM2, SRRM2-AS1, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TEKT5, TELO2, TFAP4, THOC6, TIGD7, TMEM114, TMEM186, TMEM204, TNFRSF12A, TNFRSF17, TNP2, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, TRT-CGT2-1, TSC2, TSR3, TVP23A, TXNDC11, UBALD1, UBE2I, UBN1, UNKL, USP7, USP7-AS1, VASN, WDR24, WDR90, ZC3H7A, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32
See casesPathogenic
(Jul 18, 2014)
no assertion criteria providedVCV000155643
8.
GRCh37:
Chr16:2127606-2334390
GRCh38:
Chr16:2077605-2284389
Endometrial carcinomaUncertain significance
(Jan 1, 2014)
no assertion criteria providedVCV000495325
9.
GRCh37:
Chr16:2325937
GRCh38:
Chr16:2275936
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000884267
10.
GRCh37:
Chr16:2325983
GRCh38:
Chr16:2275982
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000886298
11.
GRCh37:
Chr16:2325986
GRCh38:
Chr16:2275985
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000886299
12.
GRCh37:
Chr16:2326050
GRCh38:
Chr16:2276049
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000886300
13.
GRCh37:
Chr16:2326054
GRCh38:
Chr16:2276053
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000318382
14.
GRCh37:
Chr16:2326228
GRCh38:
Chr16:2276227
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Mar 23, 2018)
criteria provided, single submitterVCV000886301
15.
GRCh37:
Chr16:2326242
GRCh38:
Chr16:2276241
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000318383
16.
GRCh37:
Chr16:2326269
GRCh38:
Chr16:2276268
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000318384
17.
GRCh37:
Chr16:2326296
GRCh38:
Chr16:2276295
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000886302
18.
GRCh37:
Chr16:2326363
GRCh38:
Chr16:2276362
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000318385
19.
GRCh37:
Chr16:2326386
GRCh38:
Chr16:2276385
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000887296
20.
GRCh37:
Chr16:2326397
GRCh38:
Chr16:2276396
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000318386
21.
GRCh37:
Chr16:2326407
GRCh38:
Chr16:2276406
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000318387
22.
GRCh37:
Chr16:2326408
GRCh38:
Chr16:2276407
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000887297
23.
GRCh37:
Chr16:2326472
GRCh38:
Chr16:2276471
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000318388
24.
GRCh37:
Chr16:2326483
GRCh38:
Chr16:2276482
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000318389
25.
GRCh37:
Chr16:2326520
GRCh38:
Chr16:2276519
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000318390
26.
GRCh37:
Chr16:2326521
GRCh38:
Chr16:2276520
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000888543
27.
GRCh37:
Chr16:2326579
GRCh38:
Chr16:2276578
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000888544
28.
GRCh37:
Chr16:2326667
GRCh38:
Chr16:2276666
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Mar 30, 2018)
criteria provided, single submitterVCV000888545
29.
GRCh37:
Chr16:2326674
GRCh38:
Chr16:2276673
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000888546
30.
GRCh37:
Chr16:2326689
GRCh38:
Chr16:2276688
ABCA3E1701Knot specified, not provided, Surfactant metabolism dysfunction, pulmonary, 3
Likely benign
(Jul 6, 2019)
criteria provided, multiple submitters, no conflictsVCV000227154
31.
GRCh37:
Chr16:2326692
GRCh38:
Chr16:2276691
ABCA3A1700TSurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000318391
32.
GRCh37:
Chr16:2326700
GRCh38:
Chr16:2276699
ABCA3P1697LSurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000888547
33.
GRCh37:
Chr16:2326710
GRCh38:
Chr16:2276709
ABCA3H1694YSurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000318392
34.
GRCh37:
Chr16:2326752
GRCh38:
Chr16:2276751
ABCA3V1680MSurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000888548
35.
GRCh37:
Chr16:2326767
GRCh38:
Chr16:2276766
ABCA3V1675MSurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000318393
36.
GRCh37:
Chr16:2326770
GRCh38:
Chr16:2276769
ABCA3G1674SSurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000884330
37.
GRCh37:
Chr16:2326898
GRCh38:
Chr16:2276897
ABCA3not providedLikely benign
(Aug 4, 2020)
criteria provided, single submitterVCV001186598
38.
GRCh37:
Chr16:2327008
GRCh38:
Chr16:2277007
ABCA3not providedBenign
(Nov 5, 2020)
criteria provided, single submitterVCV001226236
39.
GRCh37:
Chr16:2327119
GRCh38:
Chr16:2277118
ABCA3not providedBenign
(Aug 4, 2020)
criteria provided, single submitterVCV001271853
40.
GRCh37:
Chr16:2327341
GRCh38:
Chr16:2277340
ABCA3not providedLikely benign
(Aug 4, 2020)
criteria provided, single submitterVCV001218256
41.
GRCh37:
Chr16:2327602
GRCh38:
Chr16:2277601
ABCA3A1660VSurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Nov 11, 2019)
criteria provided, single submitterVCV000816678
42.
GRCh37:
Chr16:2327617
GRCh38:
Chr16:2277616
ABCA3R1655HSurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000884331
43.
GRCh37:
Chr16:2327637
GRCh38:
Chr16:2277636
ABCA3not provided, Surfactant metabolism dysfunction, pulmonary, 3Conflicting interpretations of pathogenicity
(Dec 14, 2018)
criteria provided, conflicting interpretationsVCV000787641
44.
GRCh37:
Chr16:2327868
GRCh38:
Chr16:2277867
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000884332
45.
GRCh37:
Chr16:2327879
GRCh38:
Chr16:2277878
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Pathogenic
(Mar 25, 2004)
no assertion criteria providedVCV000008016
46.
GRCh37:
Chr16:2327893
GRCh38:
Chr16:2277892
ABCA3D1632ESurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000318394
47.
GRCh37:
Chr16:2327903-2327904
GRCh38:
Chr16:2277902-2277903
ABCA3A1629fsIdiopathic Pulmonary FibrosisLikely pathogenic
(Jan 10, 2019)
criteria provided, single submitterVCV000915845
48.
GRCh37:
Chr16:2327919
GRCh38:
Chr16:2277918
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000884333
49.
GRCh37:
Chr16:2327967
GRCh38:
Chr16:2277966
ABCA3G1608Cnot providednot providedno assertion providedVCV000088778
50.
GRCh37:
Chr16:2328017
GRCh38:
Chr16:2278016
ABCA3Q1591PSurfactant metabolism dysfunction, pulmonary, 3Pathogenic
(Mar 25, 2004)
no assertion criteria providedVCV000008014
51.
GRCh37:
Chr16:2328054
GRCh38:
Chr16:2278053
ABCA3A1579SSurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000318395
52.
GRCh37:
Chr16:2328146
GRCh38:
Chr16:2278145
ABCA3not providedLikely benign
(Aug 4, 2020)
criteria provided, single submitterVCV001194796
53.
GRCh37:
Chr16:2328309
GRCh38:
Chr16:2278308
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000318396
54.
GRCh37:
Chr16:2328325
GRCh38:
Chr16:2278324
ABCA3R1561QSurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000886353
55.
GRCh37:
Chr16:2328339
GRCh38:
Chr16:2278338
ABCA3not specifiedLikely benign
(Nov 12, 2014)
criteria provided, single submitterVCV000162670
56.
GRCh37:
Chr16:2328341
GRCh38:
Chr16:2278340
ABCA3T1556ASurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000318397
57.
GRCh37:
Chr16:2328349
GRCh38:
Chr16:2278348
ABCA3L1553PSurfactant metabolism dysfunction, pulmonary, 3Pathogenic
(Mar 25, 2004)
no assertion criteria providedVCV000008013
58.
GRCh37:
Chr16:2328365
GRCh38:
Chr16:2278364
ABCA3V1548MSurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000886354
59.
GRCh37:
Chr16:2328390
GRCh38:
Chr16:2278389
ABCA3not specifiedLikely benign
(Feb 21, 2013)
criteria provided, single submitterVCV000162671
60.
GRCh37:
Chr16:2328650
GRCh38:
Chr16:2278649
ABCA3not providedBenign
(Jul 21, 2018)
criteria provided, single submitterVCV001235998
61.
GRCh37:
Chr16:2328790
GRCh38:
Chr16:2278789
ABCA3not providedBenign
(Jul 21, 2018)
criteria provided, single submitterVCV001288870
62.
GRCh37:
Chr16:2328889
GRCh38:
Chr16:2278888
ABCA3not providedBenign
(Mar 24, 2019)
criteria provided, single submitterVCV001257098
63.
GRCh37:
Chr16:2328941
GRCh38:
Chr16:2278940
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Likely benign
(Jan 10, 2020)
criteria provided, single submitterVCV000932916
64.
GRCh37:
Chr16:2328946
GRCh38:
Chr16:2278945
ABCA3Y1515*Surfactant metabolism dysfunction, pulmonary, 3Pathogenic
(Dec 22, 2019)
criteria provided, single submitterVCV000992982
65.
GRCh37:
Chr16:2328963
GRCh38:
Chr16:2278962
ABCA3K1510ESurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000318398
66.
GRCh37:
Chr16:2328996
GRCh38:
Chr16:2278995
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000886355
67.
GRCh37:
Chr16:2329025
GRCh38:
Chr16:2279024
ABCA3R1489HSurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jun 23, 2019)
criteria provided, single submitterVCV000689465
68.
GRCh37:
Chr16:2329071
GRCh38:
Chr16:2279070
ABCA3R1474WSurfactant metabolism dysfunction, pulmonary, 3, not specified, not provided
Benign/Likely benign
(Aug 25, 2020)
criteria provided, multiple submitters, no conflictsVCV000504718
69.
GRCh37:
Chr16:2329098
GRCh38:
Chr16:2279097
ABCA3D1465NSurfactant metabolism dysfunction, pulmonary, 3, not providedUncertain significance
(Apr 21, 2020)
criteria provided, multiple submitters, no conflictsVCV000886356
70.
GRCh37:
Chr16:2329105
GRCh38:
Chr16:2279104
ABCA3not providedLikely benign
(Mar 29, 2018)
criteria provided, single submitterVCV000737336
71.
GRCh37:
Chr16:2329121
GRCh38:
Chr16:2279120
ABCA3R1457QSurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Dec 27, 2017)
criteria provided, single submitterVCV000887345
72.
GRCh37:
Chr16:2329171
GRCh38:
Chr16:2279170
ABCA3not providedBenign
(Aug 17, 2021)
criteria provided, single submitterVCV001302801
73.
GRCh37:
Chr16:2329261
GRCh38:
Chr16:2279260
ABCA3not providedBenign
(Jul 21, 2018)
criteria provided, single submitterVCV001228364
74.
GRCh37:
Chr16:2331014
GRCh38:
Chr16:2281013
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000887346
75.
GRCh37:
Chr16:2331065
GRCh38:
Chr16:2281064
ABCA3F1441Snot providednot providedno assertion providedVCV000088777
76.
GRCh37:
Chr16:2331134
GRCh38:
Chr16:2281133
ABCA3N1418SSurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Apr 28, 2017)
criteria provided, single submitterVCV000887347
77.
GRCh37:
Chr16:2331173
GRCh38:
Chr16:2281172
ABCA3A1405VSurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Mar 11, 2019)
criteria provided, single submitterVCV000635559
78.
GRCh37:
Chr16:2331181
GRCh38:
Chr16:2281180
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000887348
79.
GRCh37:
Chr16:2331216
GRCh38:
Chr16:2281215
ABCA3E1391KSurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000887349
80.
GRCh37:
Chr16:2331230
GRCh38:
Chr16:2281229
ABCA3Surfactant metabolism dysfunction, pulmonary, 3, not specified, not provided
Benign/Likely benign
(Feb 17, 2020)
criteria provided, multiple submitters, no conflictsVCV000504719
81.
GRCh37:
Chr16:2331236
GRCh38:
Chr16:2281235
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000318399
82.
GRCh37:
Chr16:2331430
GRCh38:
Chr16:2281429
ABCA3not providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000769889
83.
GRCh37:
Chr16:2331430
GRCh38:
Chr16:2281429
ABCA3not specified, Surfactant metabolism dysfunction, pulmonary, 3Benign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflictsVCV000162672
84.
GRCh37:
Chr16:2331441
GRCh38:
Chr16:2281440
ABCA3not providedLikely benign
(Jun 15, 2018)
criteria provided, single submitterVCV000753904
85.
GRCh37:
Chr16:2331446
GRCh38:
Chr16:2281445
ABCA3R1367HSurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Nov 9, 2018)
criteria provided, single submitterVCV001033686
86.
GRCh37:
Chr16:2331457
GRCh38:
Chr16:2281456
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000887540
87.
GRCh37:
Chr16:2331461
GRCh38:
Chr16:2281460
ABCA3A1362Vnot provided, Surfactant metabolism dysfunction, pulmonary, 3Conflicting interpretations of pathogenicity
(May 20, 2019)
criteria provided, conflicting interpretationsVCV000694630
88.
GRCh37:
Chr16:2331807-2331808
GRCh38:
Chr16:2281806-2281807
ABCA3not providedLikely benign
(Sep 17, 2019)
criteria provided, single submitterVCV001194369
89.
GRCh37:
Chr16:2331808
GRCh38:
Chr16:2281807
ABCA3not providedLikely benign
(Aug 26, 2019)
criteria provided, single submitterVCV001189847
90.
GRCh37:
Chr16:2333133
GRCh38:
Chr16:2283132
ABCA3not providedLikely benign
(Mar 24, 2019)
criteria provided, single submitterVCV001214557
91.
GRCh37:
Chr16:2333195
GRCh38:
Chr16:2283194
ABCA3R1343WSurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000318401
92.
GRCh37:
Chr16:2333205
GRCh38:
Chr16:2283204
ABCA3not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000718785
93.
GRCh37:
Chr16:2333210
GRCh38:
Chr16:2283209
ABCA3A1338TSurfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000318402
94.
GRCh37:
Chr16:2333224-2333225
GRCh38:
Chr16:2283223-2283224
ABCA3R1333fsnot providedPathogenic
(Jul 21, 2021)
criteria provided, single submitterVCV001317554
95.
GRCh37:
Chr16:2333238
GRCh38:
Chr16:2283237
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000318403
96.
GRCh37:
Chr16:2333249
GRCh38:
Chr16:2283248
ABCA3E1325KSurfactant metabolism dysfunction, pulmonary, 3Likely pathogenic
(Sep 5, 2019)
criteria provided, single submitterVCV000816667
97.
GRCh37:
Chr16:2333295
GRCh38:
Chr16:2283294
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000318404
98.
GRCh37:
Chr16:2333317
GRCh38:
Chr16:2283316
ABCA3G1302ESurfactant metabolism dysfunction, pulmonary, 3Likely pathogenic
(Oct 12, 2020)
criteria provided, single submitterVCV000981520
99.
GRCh37:
Chr16:2333325
GRCh38:
Chr16:2283324
ABCA3Surfactant metabolism dysfunction, pulmonary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000318405
100.
GRCh37:
Chr16:2333387
GRCh38:
Chr16:2283386
ABCA3not providedLikely benign
(Nov 15, 2018)
criteria provided, single submitterVCV001187695
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