| - GRCh37:
- Chr4:44358218-63111600
- GRCh38:
- Chr4:44356201-62245882
| AASDH, ADGRL3, ADGRL3-AS1, ARL9, ATP10D, CEP135, CHIC2, CLOCK, CNGA1, COMMD8, CORIN, COX7B2, CRACD, CWH43, DANCR, DCUN1D4, ERVMER34-1, EXOC1, EXOC1L, FIP1L1, FRYL, GABRA2, GABRA4, GABRB1, GABRG1, GNPDA2, GSX2, GUF1, HOPX, IGFBP7, IGFBP7-AS1, KCTD8, KDR, KIT, LINC01618, LINC02260, LINC02271, LINC02283, LINC02380, LINC02429, LINC02480, LINC02494, LINC02496, LINC02619, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC101927157, LOC101927179, LOC110120742, LOC110120745, LOC110121111, LOC110121177, LOC110121183, LOC110121309, LOC112978663, LOC114004386, LOC116158486, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC121048744, LOC121048745, LOC121053178, LOC121053179, LOC121053180, LOC121053181, LOC121053182, LOC121725171, LOC123477735, LOC123477736, LOC123477737, LOC123477738, LOC123477739, LOC123477740, LOC123477741, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC123477748, LOC123477749, LOC126807048, LOC126807049, LOC126807050, LOC126807051, LOC126807052, LOC126807053, LOC126807054, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC126807063, LOC126807064, LRRC66, MIR4449, MIR548AG1, MIR8053, NFXL1, NIPAL1, NMU, NOA1, OCIAD1, OCIAD1-AS1, OCIAD2, PAICS, PDCL2, PDGFRA, POLR2B, PPAT, RASL11B, REST, SCFD2, SGCB, SLAIN2, SLC10A4, SNORA26, SPATA18, SPINK2, SRD5A3, SRD5A3-AS1, SRP72, TEC, THEGL, TMEM165, TXK, USP46, USP46-DT, YIPF7, ZAR1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52697788-98426769
- GRCh38:
- Chr4:51831622-97505618
| AASDH, ABCG2, ABRAXAS1, ADAMTS3, ADGRL3, ADGRL3-AS1, AFF1, AFF1-AS1, AFM, AFP, ALB, AMBN, AMTN, ANKRD17, ANKRD17-DT, ANTXR2, ANXA3, AREG, ARHGAP24, ARL9, ART3, ATOH1, BMP2K, BMP3, BMPR1B, BMPR1B-DT, BTC, C4orf36, CABS1, CCDC158, CCNG2, CCNI, CCSER1, CDKL2, CDS1, CENPC, CEP135, CFAP299, CHIC2, CLOCK, CNOT6L, COPS4, COQ2, COX18, CRACD, CSN1S1, CSN2, CSN3, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, DANCR, DCK, DCUN1D4, DMP1, DSPP, ENAM, ENOPH1, EPGN, EPHA5, EPHA5-AS1, EREG, ERVMER34-1, EXOC1, EXOC1L, FAM13A, FAM13A-AS1, FAM47E, FAM47E-STBD1, FDCSP, FGF5, FIP1L1, FRAS1, G3BP2, GC, GK2, GNRHR, GPAT3, GPRIN3, GRID2, GRSF1, GSX2, HELQ, HERC3, HERC5, HERC6, HNRNPD, HNRNPD-DT, HNRNPDL, HOPX, HPGDS, HPSE, HSD17B11, HSD17B13, HTN1, HTN3, IBSP, IGFBP7, IGFBP7-AS1, JCHAIN, KDR, KIT, KLHL8, LIN54, LINC00575, LINC00989, LINC01088, LINC01094, LINC01618, LINC02232, LINC02260, LINC02267, LINC02271, LINC02283, LINC02380, LINC02429, LINC02480, LINC02483, LINC02494, LINC02496, LINC02499, LINC02562, LINC02619, LINC02994, LNCPRESS2, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC101927237, LOC105377267, LOC107988048, LOC110120742, LOC110120743, LOC110120745, LOC110120752, LOC110120783, LOC110121083, LOC110121104, LOC110121111, LOC110121177, LOC110121183, LOC110283621, LOC110351180, LOC111365205, LOC111589210, LOC111591506, LOC111828520, LOC111832670, LOC111832671, LOC112978669, LOC112978670, LOC112978671, LOC112997534, LOC112997535, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC112997546, LOC112997547, LOC114004386, LOC114803476, LOC114827842, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC116158494, LOC116158495, LOC116158496, LOC116158497, LOC116158498, LOC116158499, LOC116158500, LOC116158501, LOC116158502, LOC116158503, LOC121053179, LOC121053180, LOC121053181, LOC121053182, LOC121053183, LOC121053184, LOC121053185, LOC121053186, LOC121053187, LOC121053188, LOC121725171, LOC121725172, LOC121725173, LOC121725174, LOC121725175, LOC121725176, LOC121725177, LOC121725178, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC123477748, LOC123477749, LOC123477750, LOC123477751, LOC123477752, LOC123477753, LOC123477754, LOC123477755, LOC123477756, LOC123477757, LOC123477758, LOC123477759, LOC123477760, LOC123477761, LOC123477762, LOC123477763, LOC123477764, LOC123477765, LOC123477766, LOC123477767, LOC123477768, LOC123477769, LOC123477770, LOC123477771, LOC123477772, LOC123477773, LOC123477774, LOC123477775, LOC123477776, LOC123477777, LOC123477778, LOC123477779, LOC123477780, LOC123477781, LOC123477782, LOC123477783, LOC123477784, LOC123477785, LOC123477786, LOC123477787, LOC123477788, LOC123477789, LOC123477790, LOC126807053, LOC126807054, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC126807063, LOC126807064, LOC126807065, LOC126807066, LOC126807067, LOC126807068, LOC126807069, LOC126807070, LOC126807071, LOC126807072, LOC126807073, LOC126807074, LOC126807075, LOC126807076, LOC126807077, LOC126807078, LOC126807079, LOC126807080, LOC126807081, LOC126807082, LOC126807083, LOC126807084, LOC126807085, LOC126807086, LOC126807087, LOC126807088, LOC126807089, LOC126807090, LOC126807091, LOC126807092, LOC126807093, LOC126807094, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC126807101, LOC126807102, LOC126807103, LOC126807104, LOC126807105, LOC126807106, LOC126807107, LOC126807108, LOC126807109, LOC126807110, LOC126807111, LOC126807112, LOC126807113, LOC126807114, LOC126807115, LOC126807116, LOC126807117, LOC550113, LRRC66, MAPK10, MAPK10-AS1, MEPE, MIR1269A, MIR4449, MIR4450, MIR4451, MIR4452, MIR5096, MIR548AG1, MIR548AH, MIR5705, MIR575, MMRN1, MOB1B, MRPL1, MRPS18C, MTHFD2L, MUC7, NAA11, NAAA, NAP1L5, NKX6-1, NMU, NOA1, NPFFR2, NUDT9, NUP54, ODAM, ODAPH, OPRPN, PAICS, PAQR3, PARM1, PARM1-AS1, PCAT4, PDCL2, PDGFRA, PDHA2, PDLIM5, PF4, PF4V1, PIGY, PIGY-DT, PKD2, PLAC8, POLR2B, PPAT, PPBP, PPEF2, PPM1K, PPM1K-DT, PRDM8, PRDM8-AS1, PRKG2, PRKG2-AS1, PRR27, PTPN13, PYURF, RASGEF1B, RASL11B, RASSF6, RCHY1, REST, RUFY3, SCARB2, SCD5, SCFD2, SCPPPQ1, SDAD1, SDAD1-AS1, SEC31A, SEPTIN11, SGCB, SHROOM3, SHROOM3-AS1, SLC10A6, SLC4A4, SMARCAD1, SMARCAD1-DT, SMR3A, SMR3B, SNCA, SNCA-AS1, SNORA26, SNORD143, SNORD144, SNORD161, SOWAHB, SPARCL1, SPATA18, SPINK2, SPP1, SRD5A3, SRD5A3-AS1, SRP72, STAP1, STATH, STBD1, STPG2, STPG2-AS1, SULT1B1, SULT1E1, TECRL, THAP6, THAP9, THAP9-AS1, THEGL, TIGD2, TMEM150C, TMEM165, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, UBA6, UBA6-DT, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UNC5C, UNC5C-AS1, USO1, USP46, USP46-DT, UTP3, WDFY3, WDFY3-AS1, WDFY3-AS2, YTHDC1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52697788-67857207
- GRCh38:
- Chr4:51831622-66991489
| AASDH, ADGRL3, ADGRL3-AS1, ARL9, CEP135, CHIC2, CLOCK, CRACD, DANCR, DCUN1D4, EPHA5, EPHA5-AS1, ERVMER34-1, EXOC1, EXOC1L, FIP1L1, GSX2, HOPX, IGFBP7, IGFBP7-AS1, KDR, KIT, LINC01618, LINC02232, LINC02260, LINC02271, LINC02283, LINC02380, LINC02429, LINC02480, LINC02494, LINC02496, LINC02619, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC110120742, LOC110120745, LOC110120783, LOC110121111, LOC110121177, LOC110121183, LOC114004386, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC121053179, LOC121053180, LOC121053181, LOC121053182, LOC121725171, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC123477748, LOC123477749, LOC123477750, LOC126807053, LOC126807054, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC126807063, LOC126807064, LOC126807065, LOC126807066, LOC126807067, LOC126807068, LRRC66, MIR1269A, MIR4449, MIR548AG1, NMU, NOA1, PAICS, PDCL2, PDGFRA, POLR2B, PPAT, RASL11B, REST, SCFD2, SGCB, SNORA26, SPATA18, SPINK2, SRD5A3, SRD5A3-AS1, SRP72, TECRL, THEGL, TMEM165, USP46, USP46-DT | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52736191-55968559
- GRCh38:
- Chr4:51870025-55102392
| CHIC2, DANCR, DCUN1D4, ERVMER34-1, FIP1L1, GSX2, KDR, KIT, LINC01618, LINC02260, LINC02283, LINC02480, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC110120742, LOC110120745, LOC110121111, LOC110121183, LOC114004386, LOC116158487, LOC116158488, LOC123477742, LOC123477743, LOC123477744, LOC126807053, LOC126807054, LOC126807055, LRRC66, MIR4449, PDGFRA, RASL11B, SCFD2, SGCB, SNORA26, SPATA18, USP46, USP46-DT | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh38:
- Chr4:51891814-76009719
| LOC112978670, LOC112978671, LOC114004386, LOC114803476, LOC114827842, LOC116158487, PPBP, PPEF2, PRR27, RASL11B, REST, RUFY3, SDAD1-AS1, SGCB, SLC4A4, SMR3A, SMR3B, SNORA26, SCFD2, SDAD1, RASSF6, RCHY1, LOC121053185, LOC121053186, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC116158494, LOC121053181, LOC121053182, LOC116158495, LOC116158496, LOC121053179, LOC121053180, LOC121053183, LOC121053184, AASDH, ADAMTS3, ALB, ADGRL3-AS1, AFM, ADGRL3, AFP, AMBN, AMTN, ANKRD17, ANKRD17-DT, AREG, ARL9, BTC, CABS1, CDKL2, CENPC, CEP135, CHIC2, CLOCK, COX18, CRACD, CSN1S1, CSN2, CSN3, CXCL1, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, DANCR, DCK, DCUN1D4, ENAM, EPGN, EPHA5, EPHA5-AS1, EREG, ERVMER34-1, EXOC1, EXOC1L, FDCSP, FIP1L1, G3BP2, GC, GNRHR, GRSF1, GSX2, HOPX, HTN1, HTN3, IGFBP7, IGFBP7-AS1, JCHAIN, KDR, KIT, LINC01618, LINC02232, LINC02260, LINC02271, LINC02283, LINC02380, LINC02429, LINC02480, LINC02483, LINC02494, LINC02496, LINC02499, LINC02562, LINC02619, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC101927237, LOC105377267, LOC110120742, LOC110120745, LOC110120783, LOC110121111, LOC110121177, LOC110121183, LOC111589210, LOC111828520, LOC111832670, LOC111832671, LOC112978669, LOC121725171, LOC121725172, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC123477748, LOC123477749, LOC123477750, LOC123477751, LOC123477752, LOC123477753, LOC123477754, LOC123477755, LOC123477756, LOC123477757, LOC123477758, LOC123477759, LOC123477760, LOC123477761, LOC123477762, LOC123477763, LOC123477764, LOC123477765, LOC123477766, LOC126807053, LOC126807054, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC126807063, LOC126807064, LOC126807065, LOC126807066, LOC126807067, LOC126807068, LOC126807069, LOC126807070, LOC126807071, LOC126807072, LOC126807073, LOC126807074, LOC126807075, LOC126807076, LOC126807077, LOC126807078, LOC126807079, LOC126807080, LOC126807081, LOC126807082, LOC126807083, LOC550113, LRRC66, MIR1269A, MIR4449, MIR548AG1, MOB1B, MTHFD2L, MUC7, NAAA, NMU, NOA1, NPFFR2, ODAM, ODAPH, OPRPN, PAICS, PARM1, PARM1-AS1, PDCL2, PDGFRA, PF4, PF4V1, POLR2B, PPAT, SPATA18, SPINK2, SRD5A3, SRD5A3-AS1, SRP72, STAP1, STATH, SULT1B1, SULT1E1, TECRL, THAP6, THEGL, TMEM165, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, UBA6, UBA6-DT, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, USO1, USP46, USP46-DT, UTP3, YTHDC1 | | Partial albinism | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr4:52766026-60850197
- GRCh38:
- Chr4:51899860-59984479
| LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LRRC66, MIR4449, NMU, NOA1, PAICS, PDCL2, PDGFRA, POLR2B, PPAT, RASL11B, REST, SCFD2, SGCB, SNORA26, SPATA18, SPINK2, SRD5A3, SRD5A3-AS1, SRP72, THEGL, TMEM165, USP46, USP46-DT, AASDH, ARL9, CEP135, CHIC2, CLOCK, CRACD, DANCR, DCUN1D4, ERVMER34-1, EXOC1, EXOC1L, FIP1L1, GSX2, HOPX, IGFBP7, IGFBP7-AS1, KDR, KIT, LINC01618, LINC02260, LINC02283, LINC02380, LINC02429, LINC02480, LINC02494, LINC02619, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC110120742, LOC110120745, LOC110121111, LOC110121177, LOC110121183, LOC114004386, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC121053179, LOC121053180, LOC121725171, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC126807053, LOC126807054, LOC126807055 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:53505185-60850197
- GRCh38:
- Chr4:52639018-59984479
| AASDH, ARL9, CEP135, CHIC2, CLOCK, CRACD, DANCR, ERVMER34-1, EXOC1, EXOC1L, FIP1L1, GSX2, HOPX, IGFBP7, IGFBP7-AS1, KDR, KIT, LINC01618, LINC02260, LINC02283, LINC02380, LINC02429, LINC02494, LINC02619, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC110120742, LOC110120745, LOC110121111, LOC110121177, LOC110121183, LOC114004386, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC121053179, LOC121053180, LOC121725171, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC126807053, LOC126807054, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, MIR4449, NMU, NOA1, PAICS, PDCL2, PDGFRA, POLR2B, PPAT, RASL11B, REST, SCFD2, SNORA26, SPINK2, SRD5A3, SRD5A3-AS1, SRP72, THEGL, TMEM165, USP46, USP46-DT | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55064768-63135833
- GRCh38:
- Chr4:54198601-62270115
| AASDH, ADGRL3, ADGRL3-AS1, ARL9, CEP135, CLOCK, CRACD, EXOC1, EXOC1L, HOPX, IGFBP7, IGFBP7-AS1, KDR, KIT, LINC02260, LINC02271, LINC02283, LINC02380, LINC02429, LINC02494, LINC02496, LINC02619, LOC110121177, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC121053179, LOC121053180, LOC121053181, LOC121053182, LOC121725171, LOC123477749, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC123477748, LOC126807054, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC126807063, LOC126807064, MIR548AG1, NMU, NOA1, PAICS, PDCL2, PDGFRA, POLR2B, PPAT, REST, SPINK2, SRD5A3, SRD5A3-AS1, SRP72, THEGL, TMEM165 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55946169
- GRCh38:
- Chr4:55080002
| KDR | G1337D | Inborn genetic diseases | Uncertain significance (Oct 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55946291
- GRCh38:
- Chr4:55080124
| KDR | | not provided | Likely benign (Nov 10, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55948108
- GRCh38:
- Chr4:55081941
| KDR | | not specified, Capillary infantile hemangioma | Benign | no assertion criteria provided |
| - GRCh37:
- Chr4:55948154
- GRCh38:
- Chr4:55081987
| KDR | E1273Q | Inborn genetic diseases | Uncertain significance (Jun 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55948163
- GRCh38:
- Chr4:55081996
| KDR | K1270Q | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55948779
- GRCh38:
- Chr4:55082612
| KDR | R1229Q | Inborn genetic diseases | Uncertain significance (Dec 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55955049
- GRCh38:
- Chr4:55088882
| KDR | A1166T | Inborn genetic diseases | Uncertain significance (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55955058
- GRCh38:
- Chr4:55088891
| KDR | L1163F | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55955070
- GRCh38:
- Chr4:55088903
| KDR | H1159Y | Inborn genetic diseases | Uncertain significance (Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55955080
- GRCh38:
- Chr4:55088913
| KDR | | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55955100
- GRCh38:
- Chr4:55088933
| KDR | Q1149E | not provided | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr4:55955104
- GRCh38:
- Chr4:55088937
| KDR | | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55955106
- GRCh38:
- Chr4:55088939
| KDR | P1147S | Capillary infantile hemangioma | Pathogenic (Mar 1, 2002) | no assertion criteria provided |
| - GRCh37:
- Chr4:55955144
- GRCh38:
- Chr4:55088977
| KDR | | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55956183
- GRCh38:
- Chr4:55090016
| KDR | | not provided | Benign (Nov 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55956225
- GRCh38:
- Chr4:55090058
| KDR | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55958847
- GRCh38:
- Chr4:55092680
| KDR | L1002F | Capillary infantile hemangioma | Uncertain significance (Feb 1, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr4:55960966
- GRCh38:
- Chr4:55094799
| KDR | | not provided | Uncertain significance (Jun 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55961818
- GRCh38:
- Chr4:55095651
| KDR | I915V | not provided | Likely benign (Jul 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55962403
- GRCh38:
- Chr4:55096236
| KDR | K907N | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55962419
- GRCh38:
- Chr4:55096252
| KDR | L902Q | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55962448
- GRCh38:
- Chr4:55096281
| KDR | | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55962450
- GRCh38:
- Chr4:55096283
| KDR | I892V | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55962468
- GRCh38:
- Chr4:55096301
| KDR | L886I | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55962532
- GRCh38:
- Chr4:55096365
| KDR | | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55963845
- GRCh38:
- Chr4:55097678
| KDR | | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55963887
- GRCh38:
- Chr4:55097720
| KDR | | not provided | Likely benign (Aug 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55963894
- GRCh38:
- Chr4:55097727
| KDR | E850A | Inborn genetic diseases | Uncertain significance (Dec 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55963899
- GRCh38:
- Chr4:55097732
| KDR | | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55963918
- GRCh38:
- Chr4:55097751
| KDR | R842H | not provided | Likely benign (Dec 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55963960
- GRCh38:
- Chr4:55097793
| KDR | | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55964284
- GRCh38:
- Chr4:55098117
| KDR | | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55964433
- GRCh38:
- Chr4:55098266
| KDR | G794R | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55964439
- GRCh38:
- Chr4:55098272
| KDR | A792T | Inborn genetic diseases | Uncertain significance (Jul 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55964877
- GRCh38:
- Chr4:55098710
| KDR | R787Q | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr4:55964925
- GRCh38:
- Chr4:55098758
| KDR | T771M | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55964932
- GRCh38:
- Chr4:55098765
| KDR | V769I | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55964967
- GRCh38:
- Chr4:55098800
| KDR | A757G | Inborn genetic diseases | Uncertain significance (Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55968063
- GRCh38:
- Chr4:55101896
| KDR | | not provided | Uncertain significance (Mar 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55968585
- GRCh38:
- Chr4:55102418
| KDR | N693T | Inborn genetic diseases | Uncertain significance (Jun 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55968597
- GRCh38:
- Chr4:55102430
| KDR | T689M | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55968641
- GRCh38:
- Chr4:55102474
| KDR | E674D | not provided | Likely benign (Jan 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55968651
- GRCh38:
- Chr4:55102484
| KDR | G671E | not provided, Inborn genetic diseases | Conflicting interpretations of pathogenicity (Mar 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:55970782
- GRCh38:
- Chr4:55104615
| KDR | | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55970819
- GRCh38:
- Chr4:55104652
| KDR | T660A | Inborn genetic diseases | Uncertain significance (Nov 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55970867
- GRCh38:
- Chr4:55104700
| KDR | A644T | Inborn genetic diseases | Uncertain significance (Nov 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55970963
- GRCh38:
- Chr4:55104796
| KDR | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55971100
- GRCh38:
- Chr4:55104933
| KDR | S566N | Inborn genetic diseases | Uncertain significance (Jun 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55971123
- GRCh38:
- Chr4:55104956
| KDR | D558E | Inborn genetic diseases | Uncertain significance (Dec 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55972006
- GRCh38:
- Chr4:55105839
| KDR | | not provided | Benign (Jun 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55972029
- GRCh38:
- Chr4:55105862
| KDR | G539R | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55972048
- GRCh38:
- Chr4:55105881
| KDR | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55972051
- GRCh38:
- Chr4:55105884
| KDR | | not provided | Likely benign (Jun 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55972069
- GRCh38:
- Chr4:55105902
| KDR | | not provided | Benign (Jul 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55972897
- GRCh38:
- Chr4:55106730
| KDR | E498V | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55972946
- GRCh38:
- Chr4:55106779
| KDR | C482R | not specified | Likely benign (Mar 28, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55972950
- GRCh38:
- Chr4:55106783
| KDR | | not provided | Likely benign (Aug 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55972974
- GRCh38:
- Chr4:55106807
| KDR | Q472H | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55973932
- GRCh38:
- Chr4:55107765
| KDR | L462V | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55973954
- GRCh38:
- Chr4:55107787
| KDR | H454Q | Inborn genetic diseases | Uncertain significance (Nov 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55973990
- GRCh38:
- Chr4:55107823
| KDR | | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55974070
- GRCh38:
- Chr4:55107903
| KDR | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55976609
- GRCh38:
- Chr4:55110442
| KDR | K406E | Inborn genetic diseases | Uncertain significance (Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55976633
- GRCh38:
- Chr4:55110466
| KDR | V398I | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55976674
- GRCh38:
- Chr4:55110507
| KDR | T384M | not provided | Likely benign (Dec 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55976688
- GRCh38:
- Chr4:55110521
| KDR | | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55976709
- GRCh38:
- Chr4:55110542
| KDR | E372D | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55976739
- GRCh38:
- Chr4:55110572
| KDR | | not provided | Benign (Aug 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55976857
- GRCh38:
- Chr4:55110690
| KDR | A352V | not provided | Benign (Jul 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55976883
- GRCh38:
- Chr4:55110716
| KDR | | not provided | Benign (Dec 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55979552
- GRCh38:
- Chr4:55113385
| KDR | R299W | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55979558
- GRCh38:
- Chr4:55113391
| KDR | V297I | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55979610
- GRCh38:
- Chr4:55113443
| KDR | | not provided | Benign (May 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55980297
- GRCh38:
- Chr4:55114130
| KDR | S265L | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55980304
- GRCh38:
- Chr4:55114137
| KDR | P263S | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55980367
- GRCh38:
- Chr4:55114200
| KDR | L242F | Premature ovarian failure | Likely pathogenic (Mar 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55980375
- GRCh38:
- Chr4:55114208
| KDR | G239E | Inborn genetic diseases | Uncertain significance (Jun 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55981531
- GRCh38:
- Chr4:55115364
| KDR | V136M | not provided | Benign (Oct 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55984779
- GRCh38:
- Chr4:55118612
| KDR | Y117C | Inborn genetic diseases | Uncertain significance (Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55984870
- GRCh38:
- Chr4:55118703
| KDR | T87A | Inborn genetic diseases | Uncertain significance (Sep 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55984925
- GRCh38:
- Chr4:55118758
| KDR | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55984959
- GRCh38:
- Chr4:55118792
| KDR | R57T | not provided | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr4:55991461
- GRCh38:
- Chr4:55125294
| KDR | | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55124936-57368027
| PAICS, KDR, EXOC1, CLOCK, PDCL2, PPAT, KIT, CRACD, PDGFRA, SRP72, AASDH, CEP135, TMEM165, NMU, SRD5A3 | | TMEM165-congenital disorder of glycosylation, not provided | Conflicting interpretations of pathogenicity (Oct 28, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:55800120-55960636
| KDR | | not provided | Uncertain significance (Aug 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52685980-59272025
| AASDH, ARL9, CEP135, CHIC2, CLOCK, CRACD, DANCR, DCUN1D4, ERVMER34-1, EXOC1, FIP1L1, GSX2, HOPX, IGFBP7, KDR, KIT, LNX1, LRRC66, MIR4449, NMU, NOA1, PAICS, PDCL2, PDGFRA, POLR2B, PPAT, RASL11B, REST, SCFD2, SGCB, SNORA26, SPATA18, SPINK2, SRD5A3, SRP72, THEGL, TMEM165, USP46 | | not provided | Uncertain significance (Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:53688710-56491447
| CHIC2, CLOCK, FIP1L1, GSX2, KDR, KIT, LNX1, NMU, PDCL2, PDGFRA, RASL11B, SCFD2, SRD5A3, TMEM165 | | Partial albinism | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr4:55124936-57798318
| SRP72, KIT, HOPX, CRACD, AASDH, SRD5A3, PDCL2, REST, ARL9, KDR, CEP135, SPINK2, PPAT, NMU, CLOCK, PAICS, PDGFRA, EXOC1, THEGL, TMEM165 | | not provided, TMEM165-congenital disorder of glycosylation | Uncertain significance (Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52685685-58104722
| AASDH, ARL9, CEP135, CHIC2, CLOCK, CRACD, DANCR, DCUN1D4, ERVMER34-1, EXOC1, FIP1L1, GSX2, HOPX, IGFBP7, KDR, KIT, LNX1, LRRC66, MIR4449, NMU, NOA1, PAICS, PDCL2, PDGFRA, POLR2B, PPAT, RASL11B, REST, SCFD2, SGCB, SNORA26, SPATA18, SPINK2, SRD5A3, SRP72, THEGL, TMEM165, USP46 | | not provided | Pathogenic (Jul 15, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr4:52866944-143582507
| AASDH, ABCG2, ABHD18, ABRAXAS1, ADAD1, ADAMTS3, ADGRL3, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, AFF1, AFG2A, AFM, AFP, AIMP1, ALB, ALPK1, AMBN, AMTN, ANK2, ANKRD17, ANKRD50, ANTXR2, ANXA3, ANXA5, AP1AR, AREG, ARHGAP24, ARHGEF38, ARL9, ARSJ, ART3, ATOH1, BANK1, BBS12, BBS7, BDH2, BLTP1, BMP2K, BMP3, BMPR1B, BTC, C4orf17, C4orf3, C4orf33, C4orf36, CABS1, CAMK2D, CASP6, CCDC158, CCNA2, CCNG2, CCNI, CCSER1, CDKL2, CDS1, CENPC, CENPE, CEP135, CFAP299, CFI, CHIC2, CISD2, CLGN, CLOCK, CNOT6L, COL25A1, COPS4, COQ2, COX18, CRACD, CSN1S1, CSN2, CSN3, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, CXXC4, CYP2U1, DANCR, DAPP1, DCK, DDIT4L, DKK2, DMP1, DNAJB14, DSPP, EGF, EIF4E, ELF2, ELMOD2, ELOVL6, EMCN, ENAM, ENOPH1, ENPEP, EPGN, EPHA5, EREG, ERVMER34-1, ETNPPL, EXOC1, EXOSC9, FABP2, FAM13A, FAM13A-AS1, FAM241A, FAM47E, FAM47E-STBD1, FAT4, FDCSP, FGF2, FGF5, FIP1L1, FRAS1, G3BP2, GAR1, GC, GIMD1, GK2, GNRHR, GPAT3, GPRIN3, GRID2, GRSF1, GSTCD, GSX2, H2AZ1, HADH, HELQ, HERC3, HERC5, HERC6, HNRNPD, HNRNPDL, HOPX, HPGDS, HPSE, HSD17B11, HSD17B13, HSPA4L, HTN1, HTN3, IBSP, IGFBP7, IL15, IL2, IL21, INPP4B, INTS12, INTU, JADE1, JCHAIN, KDR, KIT, KLHL8, LAMTOR3, LARP1B, LARP7, LEF1, LIN54, LNX1, LRIT3, LRRC66, MAD2L1, MAML3, MANBA, MAPK10, MCUB, MEPE, METAP1, METTL14, MFSD8, MGARP, MGAT4D, MGST2, MIR302A, MIR302B, MIR302C, MIR302D, MIR367, MIR4449, MMRN1, MOB1B, MRPL1, MRPS18C, MTHFD2L, MTTP, MUC7, MYOZ2, NAA11, NAA15, NAAA, NAP1L5, NDNF, NDST3, NDST4, NDUFC1, NEUROG2, NFKB1, NKX6-1, NMU, NOA1, NOCT, NPFFR2, NPNT, NUDT6, NUDT9, NUP54, ODAM, ODAPH, OPRPN, OSTC, PABPC4L, PAICS, PAPSS1, PAQR3, PARM1, PCAT4, PCDH10, PCDH18, PDCL2, PDE5A, PDGFRA, PDHA2, PDLIM5, PF4, PF4V1, PGRMC2, PIGY, PITX2, PKD2, PLA2G12A, PLAC8, PLK4, POLR2B, PPA2, PPAT, PPBP, PPEF2, PPM1K, PPP3CA, PRDM5, PRDM8, PRKG2, PRR27, PRSS12, PTPN13, PYURF, QRFPR, RAB33B, RAP1GDS1, RASGEF1B, RASL11B, RASSF6, RCHY1, REST, RNF150, RPL34, RRH, RUFY3, SCARB2, SCD5, SCFD2, SCLT1, SCOC, SDAD1, SEC24B, SEC24B-AS1, SEC24D, SEC31A, SEPTIN11, SETD7, SGCB, SGMS2, SHROOM3, SLC10A6, SLC25A31, SLC39A8, SLC4A4, SLC7A11, SLC9B1, SLC9B2, SMARCAD1, SMIM43, SMR3A, SMR3B, SNCA, SNHG8, SNORA26, SOWAHB, SPARCL1, SPATA18, SPINK2, SPP1, SPRY1, SRD5A3, SRP72, STAP1, STATH, STBD1, STPG2, SULT1B1, SULT1E1, SYNPO2, TACR3, TBC1D9, TBCK, TECRL, TET2, THAP6, THAP9, THEGL, TIFA, TIGD2, TMEM150C, TMEM165, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, TNIP3, TRAM1L1, TRMT10A, TRPC3, TSPAN5, UBA6, UBE2D3, UCP1, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UGT8, UNC5C, USO1, USP46, USP53, UTP3, WDFY3, YTHDC1, ZGRF1, ZNF330 | | not provided | Pathogenic (Apr 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr4:49450-190963766
| AADAT, AASDH, ABCE1, ABCG2, ABHD18, ABLIM2, ABRAXAS1, ACOX3, ACSL1, ADAD1, ADAM29, ADAMTS3, ADD1, ADGRA3, ADGRL3, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, ADRA2C, AFAP1, AFF1, AFG2A, AFM, AFP, AGA, AIMP1, ALB, ALPK1, AMBN, AMTN, ANAPC10, ANAPC4, ANK2, ANKRD17, ANKRD37, ANKRD50, ANP32C, ANTXR2, ANXA10, ANXA3, ANXA5, AP1AR, APBB2, ARAP2, AREG, ARFIP1, ARHGAP10, ARHGAP24, ARHGEF38, ARL9, ARSJ, ART3, ASB5, ASIC5, ATOH1, ATP10D, ATP5ME, ATP8A1, BANK1, BBS12, BBS7, BDH2, BEND4, BLOC1S4, BLTP1, BMP2K, BMP3, BMPR1B, BOD1L1, BST1, BTC, C1QTNF7, C4orf17, C4orf19, C4orf3, C4orf33, C4orf36, C4orf45, C4orf46, C4orf47, C4orf48, C4orf50, C4orf51, CABS1, CAMK2D, CASP3, CASP6, CBR4, CC2D2A, CCDC110, CCDC149, CCDC158, CCDC96, CCKAR, CCNA2, CCNG2, CCNI, CCSER1, CD38, CDKL2, CDKN2AIP, CDS1, CENPC, CENPE, CENPU, CEP135, CEP44, CFAP299, CFAP97, CFI, CHIC2, CHRNA9, CISD2, CLCN3, CLDN22, CLDN24, CLGN, CLNK, CLOCK, CLRN2, CNGA1, CNOT6L, COL25A1, COMMD8, COPS4, COQ2, CORIN, COX18, COX7B2, CPE, CPEB2, CPLX1, CPZ, CRACD, CRIPAK, CRMP1, CSN1S1, CSN2, CSN3, CTBP1, CTSO, CWH43, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, CXXC4, CYP2U1, CYP4V2, CYTL1, DANCR, DAPP1, DCAF16, DCAF4L1, DCHS2, DCK, DCLK2, DCTD, DCUN1D4, DDIT4L, DDX60, DDX60L, DEFB131A, DGKQ, DHX15, DKK2, DMP1, DNAJB14, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP38, USP46, USP53, UTP3, UVSSA, VEGFC, WDFY3, WDR1, WDR17, WDR19, WFS1, WWC2, YIPF7, YTHDC1, ZAR1, ZBTB49, ZCCHC4, ZFP42, ZFYVE28, ZGRF1, ZNF141, ZNF330, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732, ZNF827, DOK7, DRD5, DSPP, DTHD1, EDNRA, EGF, EIF4E, ELF2, ELMOD2, ELOVL6, EMCN, ENAM, ENOPH1, ENPEP, ENPP6, EPGN, EPHA5, EREG, ERVMER34-1, ETFDH, ETNPPL, EVC, EVC2, EXOC1, EXOSC9, F11, FABP2, FAM114A1, FAM13A, FAM13A-AS1, FAM149A, FAM184B, FAM193A, FAM200B, FAM218A, FAM241A, FAM47E, FAM47E-STBD1, FAM53A, FAT1, FAT4, FBXL5, FBXO8, FBXW7, FDCSP, FGA, FGB, FGF2, FGF5, FGFBP1, FGFBP2, FGFR3, FGFRL1, FGG, FHDC1, FHIP1A, FIP1L1, FNIP2, FRAS1, FREM3, FRG1, FRG2, FRYL, FSTL5, G3BP2, GAB1, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GALNT7, GALNTL6, GAR1, GASK1B, GATB, GBA3, GC, GIMD1, GK2, GLRA3, GLRB, GNPDA2, GNRHR, GPAT3, GPM6A, GPR78, GPRIN3, GRIA2, GRID2, GRK4, GRPEL1, GRSF1, GRXCR1, GSTCD, GSX2, GUCY1A1, GUCY1B1, GUF1, GYPA, GYPB, GYPE, H2AZ1, HADH, HAND2, HAUS3, HELQ, HELT, HERC3, HERC5, HERC6, HGFAC, HHIP, HMGB2, HMX1, HNRNPD, HNRNPDL, HOPX, HPF1, HPGD, HPGDS, HPSE, HS3ST1, HSD17B11, HSD17B13, HSPA4L, HTN1, HTN3, HTRA3, HTT, IBSP, IDUA, IGFBP7, IL15, IL2, IL21, ING2, INPP4B, INTS12, INTU, IRF2, JADE1, JAKMIP1, JCHAIN, KCNIP4, KCTD8, KDR, KIAA0232, KIT, KLB, KLF3, KLHL2, KLHL5, KLHL8, KLKB1, LAMTOR3, LAP3, LARP1B, LARP7, LCORL, LDB2, LEF1, LETM1, LGI2, LIAS, LIMCH1, LIN54, LINC01587, LNX1, LOC101928198, LRAT, LRBA, LRIT3, LRP2BP, LRPAP1, LRRC66, LSM6, LYAR, MAB21L2, MAD2L1, MAEA, MAML3, MAN2B2, MANBA, MAP9, MAPK10, MARCHF1, MCUB, MED28, MEPE, METAP1, METTL14, MFAP3L, MFSD10, MFSD8, MGARP, MGAT4D, MGST2, MIR302A, MIR302B, MIR302C, MIR302D, MIR367, MIR4449, MIR95, MMAA, MMRN1, MND1, MOB1B, MRFAP1, MRFAP1L1, MRPL1, MRPS18C, MSANTD1, MSMO1, MSX1, MTHFD2L, MTNR1A, MTTP, MUC7, MXD4, MYL5, MYOZ2, N4BP2, NAA11, NAA15, NAAA, NAF1, NAP1L5, NAT8L, NCAPG, NDNF, NDST3, NDST4, NDUFC1, NEIL3, NEK1, NELFA, NEUROG2, NFKB1, NFXL1, NIPAL1, NKX1-1, NKX3-2, NKX6-1, NMU, NOA1, NOCT, NOP14, NPFFR2, NPNT, NPY1R, NPY2R, NPY5R, NR3C2, NSD2, NSG1, NSUN7, NUDT6, NUDT9, NUP54, NWD2, OCIAD1, OCIAD2, ODAM, ODAPH, OPRPN, OSTC, OTOP1, OTUD4, PABPC4L, PACRGL, PAICS, PALLD, PAPSS1, PAQR3, PARM1, PCAT4, PCDH10, PCDH18, PCDH7, PCGF3, PDCL2, PDE5A, PDE6B, PDGFC, PDGFRA, PDHA2, PDLIM3, PDLIM5, PDS5A, PF4, PF4V1, PGM2, PGRMC2, PHOX2B, PI4K2B, PIGG, PIGY, PITX2, PKD2, PLA2G12A, PLAC8, PLK4, PLRG1, POLN, POLR2B, POU4F2, PPA2, PPARGC1A, PPAT, PPBP, PPEF2, PPID, PPM1K, PPP2R2C, PPP3CA, PRDM5, PRDM8, PRIMPOL, PRKG2, PRMT9, PROM1, PRR27, PRSS12, PRSS48, PSAPL1, PTPN13, PTTG2, PYURF, QDPR, QRFPR, RAB28, RAB33B, RAP1GDS1, RAPGEF2, RASGEF1B, RASL11B, RASSF6, RBM46, RBM47, RBPJ, RCHY1, RELL1, REST, RFC1, RGS12, RHOH, RNF150, RNF175, RNF212, RNF4, RPL34, RPL9, RPS3A, RRH, RUFY3, RWDD4, RXFP1, S100P, SAP30, SCARB2, SCD5, SCFD2, SCLT1, SCOC, SCRG1, SDAD1, SEC24B, SEC24B-AS1, SEC24D, SEC31A, SEL1L3, SEPSECS, SEPTIN11, SETD7, SFRP2, SGCB, SGMS2, SH3BP2, SH3D19, SH3RF1, SH3TC1, SHISA3, SHROOM3, SLAIN2, SLBP, SLC10A4, SLC10A6, SLC10A7, SLC25A31, SLC25A4, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC39A8, SLC49A3, SLC4A4, SLC7A11, SLC9B1, SLC9B2, SLIT2, SMAD1, SMARCA5, SMARCAD1, SMIM14, SMIM20, SMIM43, SMR3A, SMR3B, SNCA, SNHG8, SNORA26, SNORD73A, SNX25, SOD3, SORBS2, SORCS2, SOWAHB, SPARCL1, SPATA18, SPATA4, SPCS3, SPINK2, SPOCK3, SPON2, SPP1, SPRY1, SRD5A3, SRP72, STAP1, STATH, STBD1, STIM2, STK32B, STOX2, STPG2, STX18, SULT1B1, SULT1E1, SYNPO2, TACC3, TACR3, TADA2B, TAPT1, TBC1D1, TBC1D14, TBC1D19, TBC1D9, TBCK, TDO2, TEC, TECRL, TENM3, TET2, THAP6, THAP9, THEGL, TIFA, TIGD2, TIGD4, TKTL2, TLL1, TLR1, TLR10, TLR2, TLR3, TLR6, TMA16, TMEM128, TMEM129, TMEM131L, TMEM144, TMEM150C, TMEM154, TMEM156, TMEM165, TMEM175, TMEM184C, TMEM192, TMEM33, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, TNIP2, TNIP3, TRAM1L1, TRAPPC11, TRIM2, TRIM60, TRIM61, TRIML1, TRIML2, TRMT10A, TRMT44, TRPC3, TSPAN5, TTC29, TXK, UBA6, UBE2D3, UBE2K, UCHL1, UCP1, UFSP2, UGDH, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UGT8, UNC5C, USO1, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19 | | not provided | Pathogenic (Jan 5, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr4:49450-190915650
| MSX1, MTHFD2L, MTNR1A, MTTP, MUC7, MXD4, MYL5, MYOZ2, N4BP2, NAA11, NAA15, NAAA, NAF1, NAP1L5, NAT8L, NCAPG, NDNF, NDST3, NDST4, NDUFC1, NEIL3, NEK1, NELFA, NEUROG2, NFKB1, NFXL1, NIPAL1, NKX1-1, NKX3-2, NKX6-1, NMU, NOA1, NOCT, NOP14, NPFFR2, NPNT, NPY1R, NPY2R, NPY5R, NR3C2, NSD2, NSG1, NSUN7, NUDT6, NUDT9, NUP54, NWD2, OCIAD1, OCIAD2, ODAM, ODAPH, OPRPN, OSTC, OTOP1, OTUD4, PABPC4L, PACRGL, PAICS, PALLD, PAPSS1, PAQR3, PARM1, PCAT4, PCDH10, PCDH18, PCDH7, PCGF3, PDCL2, PDE5A, PDE6B, PDGFC, PDGFRA, PDHA2, PDLIM3, PDLIM5, PDS5A, PF4, PF4V1, PGM2, PGRMC2, PHOX2B, PI4K2B, PIGG, PIGY, PITX2, PKD2, PLA2G12A, PLAC8, PLK4, PLRG1, POLN, POLR2B, POU4F2, PPA2, PPARGC1A, PPAT, PPBP, PPEF2, PPID, PPM1K, PPP2R2C, PPP3CA, PRDM5, PRDM8, PRIMPOL, PRKG2, PRMT9, PROM1, PRR27, PRSS12, PRSS48, PSAPL1, PTPN13, PTTG2, PYURF, QDPR, QRFPR, RAB28, RAB33B, RAP1GDS1, RAPGEF2, RASGEF1B, RASL11B, RASSF6, RBM46, RBM47, RBPJ, RCHY1, RELL1, REST, RFC1, RGS12, RHOH, RNF150, RNF175, RNF212, RNF4, RPL34, RPL9, RPS3A, RRH, RUFY3, RWDD4, RXFP1, S100P, SAP30, SCARB2, SCD5, SCFD2, SCLT1, SCOC, SCRG1, SDAD1, SEC24B, SEC24B-AS1, SEC24D, SEC31A, SEL1L3, SEPSECS, SEPTIN11, SETD7, SFRP2, SGCB, SGMS2, SH3BP2, SH3D19, SH3RF1, SH3TC1, SHISA3, SHROOM3, SLAIN2, SLBP, SLC10A4, SLC10A6, SLC10A7, SLC25A31, SLC25A4, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC39A8, SLC49A3, SLC4A4, SLC7A11, SLC9B1, SLC9B2, SLIT2, SMAD1, SMARCA5, SMARCAD1, SMIM14, SMIM20, SMIM43, SMR3A, SMR3B, SNCA, SNHG8, SNORA26, SNORD73A, SNX25, SOD3, SORBS2, SORCS2, SOWAHB, SPARCL1, SPATA18, SPATA4, SPCS3, SPINK2, SPOCK3, SPON2, SPP1, SPRY1, SRD5A3, SRP72, STAP1, STATH, STBD1, STIM2, STK32B, STOX2, STPG2, STX18, SULT1B1, SULT1E1, SYNPO2, TACC3, TACR3, TADA2B, TAPT1, TBC1D1, TBC1D14, TBC1D19, TBC1D9, TBCK, TDO2, TEC, TECRL, TENM3, TET2, THAP6, THAP9, THEGL, TIFA, TIGD2, TIGD4, TKTL2, TLL1, TLR1, TLR10, TLR2, TLR3, TLR6, TMA16, TMEM128, TMEM129, TMEM131L, TMEM144, TMEM150C, TMEM154, TMEM156, TMEM165, TMEM175, TMEM184C, TMEM192, TMEM33, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, TNIP2, TNIP3, TRAM1L1, TRAPPC11, TRIM2, TRIM60, TRIM61, TRIML1, TRIML2, TRMT10A, TRMT44, TRPC3, TSPAN5, TTC29, TXK, UBA6, UBE2D3, UBE2K, UCHL1, UCP1, UFSP2, UGDH, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UGT8, UNC5C, USO1, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP38, USP46, USP53, UTP3, UVSSA, VEGFC, WDFY3, WDR1, WDR17, WDR19, WFS1, WWC2, YIPF7, YTHDC1, ZAR1, ZBTB49, ZCCHC4, ZFP42, ZFYVE28, ZGRF1, ZNF141, ZNF330, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732, ZNF827, AADAT, AASDH, ABCE1, ABCG2, ABHD18, ABLIM2, ABRAXAS1, ACOX3, ACSL1, ADAD1, ADAM29, ADAMTS3, ADD1, ADGRA3, ADGRL3, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, ADRA2C, AFAP1, AFF1, AFG2A, AFM, AFP, AGA, AIMP1, ALB, ALPK1, AMBN, AMTN, ANAPC10, ANAPC4, ANK2, ANKRD17, ANKRD37, ANKRD50, ANP32C, ANTXR2, ANXA10, ANXA3, ANXA5, AP1AR, APBB2, ARAP2, AREG, ARFIP1, ARHGAP10, ARHGAP24, ARHGEF38, ARL9, ARSJ, ART3, ASB5, ASIC5, ATOH1, ATP10D, ATP5ME, ATP8A1, BANK1, BBS12, BBS7, BDH2, BEND4, BLOC1S4, BLTP1, BMP2K, BMP3, BMPR1B, BOD1L1, BST1, BTC, C1QTNF7, C4orf17, C4orf19, C4orf3, C4orf33, C4orf36, C4orf45, C4orf46, C4orf47, C4orf48, C4orf50, C4orf51, CABS1, CAMK2D, CASP3, CASP6, CBR4, CC2D2A, CCDC110, CCDC149, CCDC158, CCDC96, CCKAR, CCNA2, CCNG2, CCNI, CCSER1, CD38, CDKL2, CDKN2AIP, CDS1, CENPC, CENPE, CENPU, CEP135, CEP44, CFAP299, CFAP97, CFI, CHIC2, CHRNA9, CISD2, CLCN3, CLDN22, CLDN24, CLGN, CLNK, CLOCK, CLRN2, CNGA1, CNOT6L, COL25A1, COMMD8, COPS4, COQ2, CORIN, COX18, COX7B2, CPE, CPEB2, CPLX1, CPZ, CRACD, CRIPAK, CRMP1, CSN1S1, CSN2, CSN3, CTBP1, CTSO, CWH43, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, CXXC4, CYP2U1, CYP4V2, CYTL1, DANCR, DAPP1, DCAF16, DCAF4L1, DCHS2, DCK, DCLK2, DCTD, DCUN1D4, DDIT4L, DDX60, DDX60L, DEFB131A, DGKQ, DHX15, DKK2, DMP1, DNAJB14, DOK7, DRD5, DSPP, DTHD1, EDNRA, EGF, EIF4E, ELF2, ELMOD2, ELOVL6, EMCN, ENAM, ENOPH1, ENPEP, ENPP6, EPGN, EPHA5, EREG, ERVMER34-1, ETFDH, ETNPPL, EVC, EVC2, EXOC1, EXOSC9, F11, FABP2, FAM114A1, FAM13A, FAM13A-AS1, FAM149A, FAM184B, FAM193A, FAM200B, FAM218A, FAM241A, FAM47E, FAM47E-STBD1, FAM53A, FAT1, FAT4, FBXL5, FBXO8, FBXW7, FDCSP, FGA, FGB, FGF2, FGF5, FGFBP1, FGFBP2, FGFR3, FGFRL1, FGG, FHDC1, FHIP1A, FIP1L1, FNIP2, FRAS1, FREM3, FRG1, FRYL, FSTL5, G3BP2, GAB1, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GALNT7, GALNTL6, GAR1, GASK1B, GATB, GBA3, GC, GIMD1, GK2, GLRA3, GLRB, GNPDA2, GNRHR, GPAT3, GPM6A, GPR78, GPRIN3, GRIA2, GRID2, GRK4, GRPEL1, GRSF1, GRXCR1, GSTCD, GSX2, GUCY1A1, GUCY1B1, GUF1, GYPA, GYPB, GYPE, H2AZ1, HADH, HAND2, HAUS3, HELQ, HELT, HERC3, HERC5, HERC6, HGFAC, HHIP, HMGB2, HMX1, HNRNPD, HNRNPDL, HOPX, HPF1, HPGD, HPGDS, HPSE, HS3ST1, HSD17B11, HSD17B13, HSPA4L, HTN1, HTN3, HTRA3, HTT, IBSP, IDUA, IGFBP7, IL15, IL2, IL21, ING2, INPP4B, INTS12, INTU, IRF2, JADE1, JAKMIP1, JCHAIN, KCNIP4, KCTD8, KDR, KIAA0232, KIT, KLB, KLF3, KLHL2, KLHL5, KLHL8, KLKB1, LAMTOR3, LAP3, LARP1B, LARP7, LCORL, LDB2, LEF1, LETM1, LGI2, LIAS, LIMCH1, LIN54, LINC01587, LNX1, LOC101928198, LRAT, LRBA, LRIT3, LRP2BP, LRPAP1, LRRC66, LSM6, LYAR, MAB21L2, MAD2L1, MAEA, MAML3, MAN2B2, MANBA, MAP9, MAPK10, MARCHF1, MCUB, MED28, MEPE, METAP1, METTL14, MFAP3L, MFSD10, MFSD8, MGARP, MGAT4D, MGST2, MIR302A, MIR302B, MIR302C, MIR302D, MIR367, MIR4449, MIR95, MMAA, MMRN1, MND1, MOB1B, MRFAP1, MRFAP1L1, MRPL1, MRPS18C, MSANTD1, MSMO1 | | not provided | Pathogenic (Oct 31, 2014) | no assertion criteria provided |