| - GRCh37:
- Chr1:1957148-6553454
| AJAP1, ACOT7, ACTRT2, ARHGEF16, C1orf174, CCDC27, CEP104, CHD5, DFFB, ESPN, FAAP20, GABRD, GPR153, HES2, HES3, HES5, ICMT, KCNAB2, LRRC47, MEGF6, MIR551A, MMEL1, MORN1, NPHP4, PANK4, PEX10, PLCH2, PLEKHG5, PRDM16, PRKCZ, PRXL2B, RER1, RNF207, RPL22, SKI, SMIM1, TNFRSF14, TNFRSF25, TP73, TPRG1L, TTC34, WRAP73 | | Chromosome 1p36 deletion syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:1-2580976
| ACAP3, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, MIB2, MIR200A, MIR200B, MIR429, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, OR4F16, OR4F29, OR4F5, PANK4, PEX10, PLCH2, PLEKHN1, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TTC34, TTLL10, UBE2J2, VWA1 | | Chromosome 1p36 deletion syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:4481271-20530242
| NOL9, TNFRSF1B, TNFRSF8, TNFRSF9, TRE-TTC3-1, TRG-CCC1-1, TRQ-CTG14-1, UBE4B, UBIAD1, UBR4, UBXN10, TNFRSF25, UTS2, VAMP3, PADI1, OTUD3, PADI2, PADI3, PADI4, NPHP4, NPPA, PADI6, PARK7, NPPB, ACTL8, AGMAT, AGTRAP, AADACL3, AADACL4, ACOT7, AJAP1, AKR7A2, AKR7A3, AKR7L, ALDH4A1, ANGPTL7, ARHGEF10L, ARHGEF19, ATP13A2, C1orf127, C1orf167, CA6, CAMTA1, CAPZB, CASP9, CASZ1, CELA2A, CELA2B, CENPS, CENPS-CORT, CFAP107, CHD5, CLCN6, CLCNKA, CLCNKB, CLSTN1, CORT, CPLANE2, CROCC, CTNNBIP1, CTRC, DDI2, DFFA, DHRS3, DISP3, DNAJC11, DNAJC16, DRAXIN, EFHD2, EMC1, ENO1, ENO1-AS1, EPHA2, ERRFI1, ESPN, EXOSC10, FAM131C, FBLIM1, FBXO2, FBXO42, FBXO44, FBXO6, FHAD1, GPR153, GPR157, H6PD, HES2, HES3, HNRNPCL1, HNRNPCL2, HSPB7, HTR6, ICMT, IFFO2, IGSF21, KAZN, KCNAB2, KIAA2013, KIF1B, KLHDC7A, KLHL21, LINC01783, LRRC38, LZIC, MAD2L2, MASP2, MFAP2, MFN2, MICOS10, MICOS10-NBL1, MIIP, MIR34A, MRTO4, MTHFR, MTOR, NBL1, NBPF1, NECAP2, NMNAT1, PAX7, PDPN, PER3, PEX14, PGD, PHF13, PIK3CD, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, PLEKHG5, PLEKHM2, PLOD1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF13, PRAMEF15, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF22, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRDM2, RBP7, RCC2, RERE, RNF186, RNF207, RNU1-4, RPL22, RSC1A1, SDHB, SLC25A33, SLC25A34, SLC2A5, SLC2A7, SLC45A1, SLC66A1, SPATA21, SPEN, SPSB1, SRARP, SRM, SZRD1, TARDBP, TAS1R1, TAS1R2, THAP3, TMCO4, TMEM201, TMEM51, TMEM82, VPS13D, ZBTB17, ZBTB48 | | Chromosome 1p36 deletion syndrome | Pathogenic
(Mar 31, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:849466-4183006
| ACAP3, ACTRT2, AGRN, ATAD3B, ATAD3C, AURKAIP1, C1QTNF12, C1orf159, C1orf174, CALML6, CCDC27, CCNL2, CDK11A, ARHGEF16, ATAD3A, B3GALT6, ANKRD65, CDK11B, CEP104, CFAP74, CPTP, DFFB, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, PANK4, PEX10, PLCH2, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73 | | Chromosome 1p36 deletion syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:849466-5625566
| TNFRSF18, TNFRSF4, WRAP73, ACAP3, ACTRT2, AGRN, AJAP1, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DFFB, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, PANK4, PEX10, PLCH2, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1 | | Chromosome 1p36 deletion syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:6250285-7943864
| ICMT, KLHL21, NOL9, PHF13, PLEKHG5, TAS1R1, THAP3, TNFRSF25, UTS2, VAMP3, ZBTB48, PER3, RNF207, RPL22, ACOT7, CAMTA1, DNAJC11, ESPN, GPR153, HES2, HES3 | | Chromosome 1p36 deletion syndrome | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr1:817861-1836133
| TMEM240, TMEM88B, TNFRSF4, TTLL10, TTLL10-AS1, UBE2J2, VWA1, TNFRSF18, NADK, NOC2L, PERM1, PLEKHN1, PUSL1, RNF223, SAMD11, SCNN1D, SDF4, SLC35E2A, SLC35E2B, SNORD167, SSU72, TAS1R3, ACAP3, AGRN, ANKRD65, ANKRD65-AS1, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CCNL2, CDK11A, CDK11B, CPTP, DVL1, FAM41C, FAM87B, FNDC10, GNB1, HES4, INTS11, ISG15, KLHL17, LINC00115, LINC01128, LINC01342, LINC01770, LINC01786, LINC02593, LOC100288175, LOC105378586, LOC105378948, LOC106783496, LOC107985728, LOC110599576, LOC112577469, LOC115801415, LOC121677382, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC126805576, LOC126805577, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, LOC129929113, LOC129929114, LOC129929115, LOC129929116, LOC129929117, LOC129929118, LOC129929119, LOC129929120, LOC129929121, LOC129929122, LOC129929123, LOC129929124, LOC129929125, LOC129929126, LOC129929127, LOC129929128, LOC129929129, LOC129929130, LOC129929131, LOC129929132, LOC129929133, LOC129929134, LOC129929135, LOC129929136, LOC129929137, LOC129929138, LOC129929139, LOC129929140, LOC129929141, LOC129929142, LOC129929143, LOC129929144, LOC129929145, LOC129929146, LOC129929147, LOC129929148, LOC129929149, LOC129929150, LOC129929151, LOC129929152, LOC129929153, LOC129929154, LOC129929155, MIB2, MIR200A, MIR200B, MIR429, MIR6726, MIR6727, MIR6808, MMP23B, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8 | | Chromosome 1p36 deletion syndrome | Pathogenic
(Mar 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:834101-7930605
| AURKAIP1, B3GALT6, C1QTNF12, C1orf159, KCNAB2, GABRD, ICMT, INTS11, ISG15, KLHL17, KLHL21, LRRC47, C1orf174, CALML6, CFAP74, FAAP20, FNDC10, ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, CAMTA1, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CHD5, CPTP, DFFB, DNAJC11, DVL1, ESPN, GNB1, GPR153, HES2, HES3, HES4, HES5, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, NOL9, NPHP4, PANK4, PER3, PEX10, PHF13, PLCH2, PLEKHG5, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF207, RNF223, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R1, TAS1R3, THAP3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF25, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, UTS2, VAMP3, VWA1, WRAP73, ZBTB48 | | Chromosome 1p36 deletion syndrome | Pathogenic
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:2420003-8155935
| SMIM1, ZBTB48, RPL22, TNFRSF14, PRXL2B, RNF207, THAP3, TNFRSF25, TNFRSF9, TAS1R1, TP73, TPRG1L, TTC34, UTS2, VAMP3, WRAP73, ACOT7, ACTRT2, AJAP1, ARHGEF16, C1orf174, CAMTA1, CCDC27, CEP104, CHD5, DFFB, DNAJC11, ERRFI1, ESPN, GPR153, HES2, HES3, HES5, ICMT, KCNAB2, KLHL21, LRRC47, MEGF6, MIR551A, MMEL1, NOL9, NPHP4, PANK4, PARK7, PER3, PHF13, PLCH2, PLEKHG5, PRDM16 | | Chromosome 1p36 deletion syndrome | not provided | no assertion provided |
| - GRCh37:
- Chr1:1670720-3816863
| ACTRT2, ARHGEF16, C1orf174, CALML6, CCDC27, CEP104, CFAP74, DFFB, FAAP20, GABRD, GNB1, HES5, LRRC47, MEGF6, MIR551A, MMEL1, MORN1, NADK, PANK4, PEX10, PLCH2, PRDM16, PRKCZ, PRXL2B, RER1, SKI, SLC35E2A, SMIM1, TMEM52, TNFRSF14, TP73, TPRG1L, TTC34, WRAP73 | | Chromosome 1p36 deletion syndrome | Pathogenic
(May 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:1723651-3444846
| FAAP20, ACTRT2, ARHGEF16, CALML6, CFAP74, GABRD, GNB1, HES5, MEGF6, MMEL1, MORN1, PANK4, PEX10, PLCH2, PRDM16, PRKCZ, PRXL2B, RER1, SKI, TMEM52, TNFRSF14, TTC34 | | Chromosome 1p36 deletion syndrome | Pathogenic
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:568708-2567832
| CFAP74, CPTP, DVL1, FAAP20, FNDC10, MIB2, MIR200A, MMEL1, MMP23B, MORN1, MRPL20, GABRD, MIR200B, MIR429, MXRA8, NADK, ACAP3, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, NOC2L, OR4F16, PANK4, PEX10, PLCH2, PLEKHN1, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TTLL10, UBE2J2, VWA1 | | Chromosome 1p36 deletion syndrome | Pathogenic
(Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:568708-3662949
| MEGF6, MIB2, MIR200A, MIR200B, MIR429, MMP23B, MORN1, MRPL20, OR4F16, PANK4, PEX10, PLCH2, PRKCZ, PRXL2B, PUSL1, MIR551A, MMEL1, MXRA8, NADK, NOC2L, PLEKHN1, PRDM16, ACAP3, ACTRT2, AGRN, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73 | | Chromosome 1p36 deletion syndrome | Pathogenic
(Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:823964-6828363
| ANKRD65, ARHGEF16, PANK4, PEX10, PHF13, SAMD11, SCNN1D, PLEKHN1, PRDM16, PRKCZ, RER1, RNF207, RNF223, RPL22, PLCH2, PLEKHG5, SDF4, SKI, C1QTNF12, C1orf159, C1orf174, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, FAAP20, PRXL2B, PUSL1, SLC35E2A, SLC35E2B, ATAD3A, AURKAIP1, B3GALT6, ATAD3B, ATAD3C, ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, CHD5, CPTP, DFFB, DNAJC11, DVL1, ESPN, FNDC10, GABRD, GNB1, GPR153, HES2, HES3, HES4, HES5, ICMT, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, NOL9, NPHP4, SMIM1, SSU72, TAS1R1, TAS1R3, THAP3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF25, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73, ZBTB48 | | Chromosome 1p36 deletion syndrome | Pathogenic
(Nov 1, 2018) | criteria provided, single submitter |