| - GRCh38:
- Chr4:85624-57073230
| AASDH, ABLIM2, ACOX3, ADD1, ADGRA3, ADRA2C, AFAP1, AFAP1-AS1, ANAPC4, APBB2, ARAP2, ARL9, ATP10D, ATP5ME, ATP8A1, BEND4, BLOC1S4, BOD1L1, BST1, C1QTNF7, C1QTNF7-AS1, C4orf19, C4orf50, CC2D2A, CCDC149, CCDC96, CCKAR, CD38, CEP135, CFAP99, CHIC2, CHRNA9, CLNK, CLOCK, CLRN2, CNGA1, COMMD8, CORIN, COX7B2, CPEB2, CPEB2-DT, CPLX1, CPZ, CRACD, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CWH43, CYTL1, DANCR, DCAF16, DCAF4L1, DCUN1D4, DEFB131A, DGKQ, DHX15, DOK7, DRD5, DTHD1, ERVMER34-1, EVC, EVC2, EXOC1, EXOC1L, FAM114A1, FAM184B, FAM193A, FAM200B, FAM53A, FAM90A26, FBXL5, FGFBP1, FGFBP2, FGFR3, GABRG1, FGFRL1, FIP1L1, FRYL, GABRA2, GABRA4, GABRB1, GAK, GBA3, GNPDA2, GPR78, GRK4, GRPEL1, GRXCR1, GSX2, GUF1, HAUS3, HGFAC, HMX1, HOPX, HS3ST1, HTRA3, HTT, HTT-AS, IDUA, IGFBP7, JAKMIP1, JAKMIP1-DT, KCNIP4, KCNIP4-IT1, KCTD8, KDR, KIAA0232, KIT, KLB, KLF3, KLF3-AS1, KLHL5, LAP3, LCORL, LDB2, LETM1, LGI2, LIAS, LIMCH1, LINC00504, LINC00682, LINC00955, LINC01085, LINC01096, LINC01097, LINC01182, LINC01258, LINC01259, LINC01396, LINC01587, LINC01618, LINC02171, LINC02260, LINC02261, LINC02265, LINC02270, LINC02278, LINC02283, LINC02353, LINC02360, LINC02364, LINC02383, LINC02447, LINC02472, LINC02473, LINC02475, LINC02480, LINC02481, LINC02482, LINC02484, LINC02493, LINC02497, LINC02501, LINC02505, LINC02506, LINC02513, LINC02517, LINC02616, LNX1, LNX1-AS1, LNX1-AS2, LOC100129931, LOC100130872, LOC100505912, LOC100506444, LOC101927157, LOC101927179, LOC101928279, LOC101928306, LOC101928532, LOC101928622, LOC101928721, LOC101929161, LOC105374338, LOC105374344, LOC105374409, LOC105374426, LOC105374428, LOC105374438, LOC105374511, LOC105374516, LOC105374556, LOC105374557, LOC105377651, LOC106804089, LOC107986178, LOC107992393, LOC109461479, LOC110011216, LOC110120633, LOC110120693, LOC110120742, LOC110120745, LOC110120757, LOC110120784, LOC110120787, LOC110121111, LOC110121177, LOC110121183, LOC110121237, LOC110121305, LOC110121309, LOC111365176, LOC111465010, LOC111465013, LOC111519897, LOC111721707, LOC111828517, LOC112939924, LOC112939928, LOC112939929, LOC112939930, LOC112939931, LOC112939932, LOC112939933, LOC112939934, LOC112939935, LOC112939936, LOC112942284, LOC112942285, LOC112942286, LOC112942287, LOC112978663, LOC112978664, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC114004385, LOC114004386, LOC114827818, LOC116158483, LOC116158484, LOC116158485, LOC116158486, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC121048737, LOC121048738, LOC121048739, LOC121048740, LOC121048741, LOC121048742, LOC121048743, LOC121048744, LOC121048745, LOC121053178, LOC121053179, LOC121053180, LOC121725168, LOC121725169, LOC121725170, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123466227, LOC123466228, LOC123466229, LOC123466230, LOC123466231, LOC123466232, LOC123466233, LOC123466234, LOC123466235, LOC123477707, LOC123477708, LOC123477709, LOC123477710, LOC123477711, LOC123477712, LOC123477713, LOC123477714, LOC123477715, LOC123477716, LOC123477717, LOC123477718, LOC123477719, LOC123477720, LOC123477721, LOC123477723, LOC123477724, LOC123477725, LOC123477726, LOC123477727, LOC123477728, LOC123477729, LOC123477730, LOC123477731, LOC123477732, LOC123477733, LOC123477734, LOC123477735, LOC123477736, LOC123477737, LOC123477738, LOC123477739, LOC123477740, LOC123477741, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC126806939, LOC126806940, LOC126806941, LOC126806942, LOC126806943, LOC126806944, LOC126806945, LOC126806946, LOC126806947, LOC126806948, LOC126806949, LOC126806950, LOC126806951, LOC126806952, LOC126806953, LOC126806954, LOC126806955, LOC126806956, LOC126806957, LOC126806958, LOC126806959, LOC126806960, LOC126806961, LOC126806962, LOC126806963, LOC126806964, LOC126806965, LOC126806966, LOC126806967, LOC126806968, LOC126806969, LOC126806970, LOC126806971, LOC126806972, LOC126806973, LOC126806974, LOC126806975, LOC126806976, LOC126806977, LOC126806978, LOC126806979, LOC126806980, LOC126806981, LOC126806982, LOC126806983, LOC126806984, LOC126806985, LOC126806986, LOC126806987, LOC126806988, LOC126806989, LOC126806990, LOC126806991, LOC126806992, LOC126806993, LOC126806994, LOC126806995, LOC126806996, LOC126806997, LOC126806998, LOC126806999, LOC126807000, LOC126807001, LOC126807002, LOC126807003, LOC126807004, LOC126807005, LOC126807006, LOC126807007, LOC126807008, LOC126807009, LOC126807010, LOC126807011, LOC126807012, LOC126807013, LOC126807014, LOC126807015, LOC126807016, LOC126807017, LOC126807018, LOC126807019, LOC126807020, LOC126807021, LOC126807022, LOC126807023, LOC126807024, LOC126807025, LOC126807026, LOC126807027, LOC126807028, LOC126807029, LOC126807030, LOC126807031, LOC126807032, LOC126807033, LOC126807034, LOC126807035, LOC126807036, LOC126807037, LOC126807038, LOC126807040, LOC126807041, LOC126807042, LOC126807043, LOC126807044, LOC126807045, LOC126807046, LOC126807047, LOC126807048, LOC126807049, LOC126807050, LOC126807051, LOC126807052, LOC126807053, LOC126807054, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC128125818, LOC128854699, LOC128854700, LOC128854701, LOC128854702, LOC389199, LOC439933, LRPAP1, LRRC66, LYAR, MAEA, MAN2B2, MED28, MFSD10, MIR12113, MIR12115, MIR1255B1, MIR218-1, MIR3138, MIR378D1, MIR4274, MIR4275, MIR4449, MIR4798, MIR4800, MIR4801, MIR4802, MIR5091, MIR548I2, MIR5591, MIR571, MIR572, MIR573, MIR574, MIR7978, MIR8053, MIR943, MIR95, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, N4BP2, NAT8L, NCAPG, NELFA, NFXL1, NICOL1, NIPAL1, NKX1-1, NKX3-2, NMU, NOA1, NOP14, NOP14-AS1, NSD2, NSG1, NSUN7, NWD2, OCIAD1, OCIAD1-AS1, OCIAD2, OTOP1, PACRGL, PAICS, PCDH7, PCGF3, PCGF3-AS1, PDCL2, PDE6B, PDE6B-AS1, PDGFRA, PDS5A, PGM2, PHOX2B, PHOX2B-AS1, PI4K2B, PIGG, POLN, POLR2B, PPARGC1A, PPAT, PPP2R2C, PROM1, PSAPL1, PTTG2, QDPR, RAB28, RASL11B, RBM47, RBPJ, RELL1, REST, RFC1, RGS12, RHOH, RNF212, RNF4, RPL9, S100P, SCARNA22, SCFD2, SEL1L3, SEPSECS, SEPSECS-AS1, SGCB, SH3BP2, SH3TC1, SHISA3, SLAIN2, SLBP, SLC10A4, SLC26A1, SLC2A9, SLC2A9-AS1, SLC30A9, SLC34A2, SLC49A3, SLIT2, SLIT2-IT1, SMIM14, SMIM14-DT, SMIM20, SNORA26, SNORA75B, SNORD162, SOD3, SORCS2, SPATA18, SPINK2, SPMAP2L, SPON2, SRD5A3, SRD5A3-AS1, SRP72, STIM2, STIM2-AS1, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TAPT1, TAPT1-AS1, TBC1D1, TBC1D14, TBC1D19, TEC, TLR1, TLR10, TLR6, TMEM128, TMEM129, TMEM156, TMEM165, TMEM175, TMEM271, TMEM33, TNIP2, TRMT44, TXK, UBE2K, UCHL1, UCHL1-DT, UGDH, UGDH-AS1, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP46, USP46-DT, UVSSA, WDR1, WDR19, WFS1, YIPF7, ZAR1, ZBTB49, ZCCHC4, ZFYVE28, ZNF141, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732 | | Neurodevelopmental disorder | Pathogenic (Aug 24, 2023) | criteria provided, single submitter |
| - 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, LOC105377672, 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, SPMAP2L, SRD5A3, SRD5A3-AS1, SRP72, TEC, 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
| 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, SPMAP2L, SPP1, SRD5A3, SRD5A3-AS1, SRP72, STAP1, STATH, STBD1, STPG2, STPG2-AS1, SULT1B1, SULT1E1, TECRL, THAP6, THAP9, THAP9-AS1, 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, 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, INKILN, 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, LOC101928893, LOC105377253, LOC105377267, LOC105377276, LOC105377672, 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, MIR548AG1, MIR548AH, MIR5705, MIR575, MMRN1, MOB1B, MRPL1, MRPS18C, MTHFD2L, MUC7, NAA11, NAAA, NAP1L5, NKX6-1, NMU, NOA1, NPFFR2, NUDT9, NUP54, ODAM | | 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, LOC105377253, LOC105377672, 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, SPMAP2L, SRD5A3, SRD5A3-AS1, SRP72, TECRL, TMEM165, USP46, USP46-DT | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh38:
- Chr4:51891814-76009719
| CEP135, CHIC2, GRSF1, LOC110120742, LOC110120745, LOC110120783, LOC123477746, LOC123477747, LOC123477748, LOC126807073, LOC126807074, LOC126807075, PPBP, PPEF2, TMPRSS11A, TMPRSS11B, UGT2B11, TMPRSS11D, TMPRSS11E, TMPRSS11F, UBA6, UBA6-DT, UGT2A1, UGT2A2, UGT2B15, UGT2B17, SMR3B, SNORA26, SPATA18, RUFY3, SCFD2, SDAD1, UGT2B28, UGT2B4, UGT2B7, UGT2A3, UGT2B10, PRR27, RASL11B, SMR3A, LOC550113, LRRC66, MIR1269A, MIR4449, MIR548AG1, MUC7, NAAA, NMU, NOA1, LOC126807079, LOC126807080, LOC126807081, RASSF6, RCHY1, REST, SDAD1-AS1, SGCB, SLC4A4, LOC123477756, LOC123477757, LOC123477758, LOC123477766, LOC126807053, LOC126807054, LOC123477754, LOC123477755, LOC123477759, LOC123477760, LOC123477761, LOC123477762, LOC123477763, LOC123477764, LOC123477765, LOC126807055, LOC126807056, LOC126807057, LOC123477752, LOC123477753, LOC126807076, LOC126807077, LOC126807078, LOC126807082, LOC126807083, LOC110121111, LOC110121177, LOC110121183, LOC114004386, LOC114803476, LOC114827842, LOC111589210, LOC111828520, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC116158494, LOC111832670, LOC111832671, LOC112978669, LOC112978670, LOC112978671, MOB1B, MTHFD2L, LOC123477749, LOC123477750, LOC123477751, GSX2, HOPX, HTN1, HTN3, IGFBP7, IGFBP7-AS1, INKILN, JCHAIN, KDR, DCK, DCUN1D4, CRACD, CSN1S1, KIT, LINC01618, LINC02232, LINC02260, LINC02271, LINC02283, LINC02380, LINC02429, LINC02480, CLOCK, COX18, CXCL9, DANCR, CSN2, CSN3, ADGRL3-AS1, AFM, CXCL1, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, AASDH, ADAMTS3, ADGRL3, AFP, ALB, AMBN, AMTN, ANKRD17, ANKRD17-DT, AREG, ARL9, BTC, CABS1, CDKL2, CENPC, ENAM, EPGN, EPHA5, EPHA5-AS1, EREG, ERVMER34-1, EXOC1, EXOC1L, FDCSP, FIP1L1, G3BP2, GC, GNRHR, LINC02483, LINC02494, LINC02496, LINC02499, LINC02562, LINC02619, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC101927237, LOC105377253, LOC105377267, LOC105377276, LOC105377672, LOC116158495, LOC116158496, LOC121053179, LOC121053180, LOC121053181, LOC121053182, LOC121053183, LOC121053184, LOC121053185, LOC121053186, LOC121725171, LOC121725172, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC126807063, LOC126807064, LOC126807065, LOC126807066, LOC126807067, LOC126807068, LOC126807069, LOC126807070, LOC126807071, LOC126807072, NPFFR2, ODAM, ODAPH, OPRPN, PAICS, PARM1, PARM1-AS1, PDCL2, PDGFRA, PF4, PF4V1, POLR2B, PPAT, SPINK2, SPMAP2L, SRD5A3, SRD5A3-AS1, SRP72, STAP1, STATH, SULT1B1, SULT1E1, TECRL, THAP6, TMEM165, USO1, USP46, USP46-DT, UTP3, YTHDC1 | | Partial albinism | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr4:52766026-60850197
- GRCh38:
- Chr4:51899860-59984479
| 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, LOC105377672, 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, LRRC66, MIR4449, NMU, NOA1, PAICS, PDCL2, PDGFRA, POLR2B, PPAT, RASL11B, REST, SCFD2, SGCB, SNORA26, SPATA18, SPINK2, SPMAP2L, SRD5A3, SRD5A3-AS1, SRP72, TMEM165, USP46, USP46-DT | | 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, LOC105377672, 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, SPMAP2L, SRD5A3, SRD5A3-AS1, SRP72, 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, LOC105377672, LOC110121177, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC121053179, LOC121053180, LOC121053181, LOC121053182, LOC121725171, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC123477748, LOC123477749, LOC126807054, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC126807063, LOC126807064, MIR548AG1, NMU, NOA1, PAICS, PDCL2, PDGFRA, POLR2B, PPAT, REST, SPINK2, SPMAP2L, SRD5A3, SRD5A3-AS1, SRP72, TMEM165 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57114268-58084688
- GRCh38:
- Chr4:56248102-57218522
| AASDH, ARL9, CRACD, HOPX, IGFBP7, IGFBP7-AS1, LOC123477746, LOC123477747, LOC126807059, LOC126807060, LOC126807061, LOC126807062, NOA1, PAICS, POLR2B, PPAT, REST, SPINK2, SRP72, THEGL | | See cases | Uncertain significance (Aug 2, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr4:57333792
- GRCh38:
- Chr4:56467626
| SRP72 | | Autosomal dominant aplasia and myelodysplasia | Uncertain significance (Aug 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333808
- GRCh38:
- Chr4:56467642
| SRP72 | S3G | Autosomal dominant aplasia and myelodysplasia | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333818
- GRCh38:
- Chr4:56467652
| SRP72 | S6T | not provided | Uncertain significance (Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333819
- GRCh38:
- Chr4:56467653
| SRP72 | | not provided | Likely benign (Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333819-57333820
- GRCh38:
- Chr4:56467653-56467654
| SRP72 | V9fs | not provided | Uncertain significance (Aug 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333820
- GRCh38:
- Chr4:56467654
| SRP72 | G7R | not provided | Uncertain significance (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333820
- GRCh38:
- Chr4:56467654
| SRP72 | G7R | not specified, not provided | Uncertain significance (Jun 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:57333820
- GRCh38:
- Chr4:56467654
| SRP72 | G7W | not provided, Autosomal dominant aplasia and myelodysplasia | Benign (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:57333821
- GRCh38:
- Chr4:56467655
| SRP72 | G7V | not provided | Uncertain significance (Sep 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333821
- GRCh38:
- Chr4:56467655
| SRP72 | G7A | not specified, not provided, Autosomal dominant aplasia and myelodysplasia
| Benign/Likely benign (Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:57333821
- GRCh38:
- Chr4:56467655
| SRP72 | G7E | not provided, not specified, Autosomal dominant aplasia and myelodysplasia
| Conflicting interpretations of pathogenicity (Jun 6, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:57333822
- GRCh38:
- Chr4:56467656
| SRP72 | | not specified, not provided | Likely benign (Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:57333822
- GRCh38:
- Chr4:56467656
| SRP72 | | not specified, not provided | Likely benign (Sep 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:57333822
- GRCh38:
- Chr4:56467656
| SRP72 | | not provided, Autosomal dominant aplasia and myelodysplasia | Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:57333823
- GRCh38:
- Chr4:56467657
| SRP72 | G8R | not provided | Uncertain significance (Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:57333824
- GRCh38:
- Chr4:56467658
| SRP72 | G8A | not provided | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333824
- GRCh38:
- Chr4:56467658
| SRP72 | G8E | Inborn genetic diseases, Autosomal dominant aplasia and myelodysplasia | Conflicting interpretations of pathogenicity (May 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:57333825-57333826
- GRCh38:
- Chr4:56467659-56467660
| SRP72 | V9fs | not provided | Uncertain significance (Nov 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333825
- GRCh38:
- Chr4:56467659
| SRP72 | | not provided | Likely benign (Mar 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333826
- GRCh38:
- Chr4:56467660
| SRP72 | V9L | not provided | Uncertain significance (May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333830
- GRCh38:
- Chr4:56467664
| SRP72 | S10L | Autosomal dominant aplasia and myelodysplasia | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333831
- GRCh38:
- Chr4:56467665
| SRP72 | | not provided | Likely benign (Jun 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333831
- GRCh38:
- Chr4:56467665
| SRP72 | | not provided | Likely benign (Feb 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333832
- GRCh38:
- Chr4:56467666
| SRP72 | V11I | not provided | Uncertain significance (Aug 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333836
- GRCh38:
- Chr4:56467670
| SRP72 | P12L | not provided | Uncertain significance (Feb 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:57333838
- GRCh38:
- Chr4:56467672
| SRP72 | A13T | not provided | Uncertain significance (Jun 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:57333838
- GRCh38:
- Chr4:56467672
| SRP72 | A13S | not provided, Autosomal dominant aplasia and myelodysplasia | Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:57333841
- GRCh38:
- Chr4:56467675
| SRP72 | | not provided | Conflicting interpretations of pathogenicity (Jul 25, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:57333843
- GRCh38:
- Chr4:56467677
| SRP72 | | not specified | Uncertain significance (Jul 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333847
- GRCh38:
- Chr4:56467681
| SRP72 | S16R | not provided | Uncertain significance (Sep 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333852
- GRCh38:
- Chr4:56467686
| SRP72 | | not provided | Likely benign (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333855
- GRCh38:
- Chr4:56467689
| SRP72 | | not provided | Likely benign (Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333859
- GRCh38:
- Chr4:56467693
| SRP72 | | not provided | Uncertain significance (May 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333859
- GRCh38:
- Chr4:56467693
| SRP72 | R20W | not provided, not specified, Autosomal dominant aplasia and myelodysplasia
| Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:57333867
- GRCh38:
- Chr4:56467701
| SRP72 | | not provided | Likely benign (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333905
- GRCh38:
- Chr4:56467739
| SRP72 | N35S | not provided | Uncertain significance (Dec 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333907
- GRCh38:
- Chr4:56467741
| SRP72 | K36* | not provided | Uncertain significance (Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333912
- GRCh38:
- Chr4:56467746
| SRP72 | | not provided | Uncertain significance (Jan 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333929
- GRCh38:
- Chr4:56467763
| SRP72 | | not provided | Likely benign (Jun 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57333981
- GRCh38:
- Chr4:56467815
| SRP72 | | not provided | Benign (Apr 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57334035
- GRCh38:
- Chr4:56467869
| SRP72 | | not provided | Likely benign (Jun 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57334112
- GRCh38:
- Chr4:56467946
| SRP72 | | not provided | Benign (Oct 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57334142
- GRCh38:
- Chr4:56467976
| SRP72 | | not provided | Benign (Sep 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57335814
- GRCh38:
- Chr4:56469648
| SRP72 | | not provided, Autosomal dominant aplasia and myelodysplasia | Conflicting interpretations of pathogenicity (Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:57335817
- GRCh38:
- Chr4:56469651
| SRP72 | | not provided | Uncertain significance (Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57335823
- GRCh38:
- Chr4:56469657
| SRP72 | | not provided | Likely benign (Jun 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57335830
- GRCh38:
- Chr4:56469664
| SRP72 | N41H | not provided | Uncertain significance (Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:57335842
- GRCh38:
- Chr4:56469676
| SRP72 | V45L | not provided | Uncertain significance (Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:57335842
- GRCh38:
- Chr4:56469676
| SRP72 | V45I | not provided, not specified, Autosomal dominant aplasia and myelodysplasia
| Conflicting interpretations of pathogenicity (Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:57335853
- GRCh38:
- Chr4:56469687
| SRP72 | | not provided, Autosomal dominant aplasia and myelodysplasia | Benign/Likely benign (Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:57335858
- GRCh38:
- Chr4:56469692
| SRP72 | C50Y | not provided | Uncertain significance (Mar 3, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:57335860
- GRCh38:
- Chr4:56469694
| SRP72 | K51E | not provided | Uncertain significance (Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:57335874
- GRCh38:
- Chr4:56469708
| SRP72 | | not provided | Likely benign (Sep 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57335884
- GRCh38:
- Chr4:56469718
| SRP72 | G59fs | not provided | Uncertain significance (Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57335887
- GRCh38:
- Chr4:56469721
| SRP72 | S60G | not provided, Inborn genetic diseases | Uncertain significance (Mar 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:57335891
- GRCh38:
- Chr4:56469725
| SRP72 | F61C | not provided | Uncertain significance (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57335900
- GRCh38:
- Chr4:56469734
| SRP72 | A64V | Inborn genetic diseases, not specified, not provided
| Uncertain significance (Jul 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:57335915
- GRCh38:
- Chr4:56469749
| SRP72 | N69S | not provided | Uncertain significance (Mar 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57336054-57336055
- GRCh38:
- Chr4:56469888-56469889
| SRP72 | | not provided | Benign (Aug 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57336061-57336062
- GRCh38:
- Chr4:56469895-56469896
| SRP72 | | not provided | Likely benign (Jun 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57336138-57336139
- GRCh38:
- Chr4:56469972-56469973
| SRP72 | | not provided | Benign (Aug 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57336138-57336139
- GRCh38:
- Chr4:56469972-56469973
| SRP72 | | not provided | Likely benign (Aug 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57336139-57336140
- GRCh38:
- Chr4:56469973-56469974
| SRP72 | | not provided | Benign (Aug 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57336245-57336248
- GRCh38:
- Chr4:56470079-56470082
| SRP72 | | not provided | Benign (Jan 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57337613
- GRCh38:
- Chr4:56471447
| SRP72 | | not provided | Benign (Sep 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57337866-57337867
- GRCh38:
- Chr4:56471700-56471701
| SRP72 | | not provided | Benign (Nov 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57337867
- GRCh38:
- Chr4:56471701
| SRP72 | | not provided | Benign (May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57337867
- GRCh38:
- Chr4:56471701
| SRP72 | | not provided | Likely benign (Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57337867
- GRCh38:
- Chr4:56471701
| SRP72 | | not provided | Likely benign (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57337886
- GRCh38:
- Chr4:56471720
| SRP72 | | not provided | Uncertain significance (Oct 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57337904
- GRCh38:
- Chr4:56471738
| SRP72 | | not specified | Uncertain significance (Feb 27, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57337905
- GRCh38:
- Chr4:56471739
| SRP72 | K84E | not provided | Uncertain significance (Aug 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57337910
- GRCh38:
- Chr4:56471744
| SRP72 | | not provided | Likely benign (Feb 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57337913
- GRCh38:
- Chr4:56471747
| SRP72 | | not provided | Likely benign (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57337916
- GRCh38:
- Chr4:56471750
| SRP72 | | not provided | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57337922
- GRCh38:
- Chr4:56471756
| SRP72 | | not provided | Likely benign (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57337929
- GRCh38:
- Chr4:56471763
| SRP72 | N92D | not provided | Uncertain significance (Jul 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57337944
- GRCh38:
- Chr4:56471778
| SRP72 | A97T | not provided | Uncertain significance (Jan 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57337949
- GRCh38:
- Chr4:56471783
| SRP72 | | not provided, Autosomal dominant aplasia and myelodysplasia | Benign (Apr 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:57337955
- GRCh38:
- Chr4:56471789
| SRP72 | | not provided | Likely benign (Sep 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57337969
- GRCh38:
- Chr4:56471803
| SRP72 | N105S | not provided | Uncertain significance (Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57337974-57337977
- GRCh38:
- Chr4:56471808-56471811
| SRP72 | D109fs | not provided | Uncertain significance (Mar 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57337987
- GRCh38:
- Chr4:56471821
| SRP72 | L111P | not provided | Uncertain significance (Jan 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57337995
- GRCh38:
- Chr4:56471829
| SRP72 | L114F | not provided | Uncertain significance (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57338007
- GRCh38:
- Chr4:56471841
| SRP72 | V118M | not provided | Uncertain significance (Sep 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57338026
- GRCh38:
- Chr4:56471860
| SRP72 | | not provided | Likely benign (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57338188
- GRCh38:
- Chr4:56472022
| SRP72 | | not provided | Benign (Apr 9, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57339931-57339932
- GRCh38:
- Chr4:56473765-56473766
| SRP72 | | not provided | Benign (Aug 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57340081
- GRCh38:
- Chr4:56473915
| SRP72 | | not provided | Likely benign (Mar 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57340109
- GRCh38:
- Chr4:56473943
| SRP72 | | not provided | Benign (Sep 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:57340214
- GRCh38:
- Chr4:56474048
| SRP72 | | not provided | Likely benign (Oct 8, 2022) | criteria provided, single submitter |