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Items: 1 to 100 of 451

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 disorderPathogenic
(Aug 24, 2023)
criteria provided, single submitter
2.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr4:52697788-67857207
GRCh38:
Chr4:51831622-66991489
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
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 albinismPathogeniccriteria provided, single submitter
6.
GRCh37:
Chr4:52766026-60850197
GRCh38:
Chr4:51899860-59984479
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr4:53505185-60850197
GRCh38:
Chr4:52639018-59984479
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr4:55064768-63135833
GRCh38:
Chr4:54198601-62270115
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
9.
GRCh37:
Chr4:57114268-58084688
GRCh38:
Chr4:56248102-57218522
See casesUncertain significance
(Aug 2, 2011)
no assertion criteria provided
10.
GRCh37:
Chr4:57333792
GRCh38:
Chr4:56467626
SRP72Autosomal dominant aplasia and myelodysplasiaUncertain significance
(Aug 3, 2020)
criteria provided, single submitter
11.
GRCh37:
Chr4:57333808
GRCh38:
Chr4:56467642
SRP72S3GAutosomal dominant aplasia and myelodysplasiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr4:57333818
GRCh38:
Chr4:56467652
SRP72S6Tnot providedUncertain significance
(Sep 15, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr4:57333819
GRCh38:
Chr4:56467653
SRP72not providedLikely benign
(Jun 24, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr4:57333819-57333820
GRCh38:
Chr4:56467653-56467654
SRP72V9fsnot providedUncertain significance
(Aug 10, 2023)
criteria provided, single submitter
15.
GRCh37:
Chr4:57333820
GRCh38:
Chr4:56467654
SRP72G7Rnot providedUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr4:57333820
GRCh38:
Chr4:56467654
SRP72G7Rnot specified, not providedUncertain significance
(Jun 13, 2023)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr4:57333820
GRCh38:
Chr4:56467654
SRP72G7Wnot provided, Autosomal dominant aplasia and myelodysplasiaBenign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr4:57333821
GRCh38:
Chr4:56467655
SRP72G7Vnot providedUncertain significance
(Sep 25, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr4:57333821
GRCh38:
Chr4:56467655
SRP72G7Anot specified, not provided, Autosomal dominant aplasia and myelodysplasia
Benign/Likely benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr4:57333821
GRCh38:
Chr4:56467655
SRP72G7Enot provided, not specified, Autosomal dominant aplasia and myelodysplasia
Conflicting interpretations of pathogenicity
(Jun 6, 2023)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr4:57333822
GRCh38:
Chr4:56467656
SRP72not specified, not providedLikely benign
(Oct 10, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr4:57333822
GRCh38:
Chr4:56467656
SRP72not specified, not providedLikely benign
(Sep 2, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr4:57333822
GRCh38:
Chr4:56467656
SRP72not provided, Autosomal dominant aplasia and myelodysplasiaBenign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr4:57333823
GRCh38:
Chr4:56467657
SRP72G8Rnot providedUncertain significance
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr4:57333824
GRCh38:
Chr4:56467658
SRP72G8Anot providedUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr4:57333824
GRCh38:
Chr4:56467658
SRP72G8EInborn genetic diseases, Autosomal dominant aplasia and myelodysplasiaConflicting interpretations of pathogenicity
(May 24, 2023)
criteria provided, conflicting interpretations
27.
GRCh37:
Chr4:57333825-57333826
GRCh38:
Chr4:56467659-56467660
SRP72V9fsnot providedUncertain significance
(Nov 14, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr4:57333825
GRCh38:
Chr4:56467659
SRP72not providedLikely benign
(Mar 10, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr4:57333826
GRCh38:
Chr4:56467660
SRP72V9Lnot providedUncertain significance
(May 6, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr4:57333830
GRCh38:
Chr4:56467664
SRP72S10LAutosomal dominant aplasia and myelodysplasiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr4:57333831
GRCh38:
Chr4:56467665
SRP72not providedLikely benign
(Jun 16, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr4:57333831
GRCh38:
Chr4:56467665
SRP72not providedLikely benign
(Feb 15, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr4:57333832
GRCh38:
Chr4:56467666
SRP72V11Inot providedUncertain significance
(Aug 14, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr4:57333836
GRCh38:
Chr4:56467670
SRP72P12Lnot providedUncertain significance
(Feb 10, 2023)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr4:57333838
GRCh38:
Chr4:56467672
SRP72A13Tnot providedUncertain significance
(Jun 28, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr4:57333838
GRCh38:
Chr4:56467672
SRP72A13Snot provided, Autosomal dominant aplasia and myelodysplasiaConflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
37.
GRCh37:
Chr4:57333841
GRCh38:
Chr4:56467675
SRP72not providedConflicting interpretations of pathogenicity
(Jul 25, 2023)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr4:57333843
GRCh38:
Chr4:56467677
SRP72not specifiedUncertain significance
(Jul 26, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr4:57333847
GRCh38:
Chr4:56467681
SRP72S16Rnot providedUncertain significance
(Sep 8, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr4:57333852
GRCh38:
Chr4:56467686
SRP72not providedLikely benign
(Aug 31, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr4:57333855
GRCh38:
Chr4:56467689
SRP72not providedLikely benign
(Sep 15, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr4:57333859
GRCh38:
Chr4:56467693
SRP72not providedUncertain significance
(May 15, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr4:57333859
GRCh38:
Chr4:56467693
SRP72R20Wnot provided, not specified, Autosomal dominant aplasia and myelodysplasia
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr4:57333867
GRCh38:
Chr4:56467701
SRP72not providedLikely benign
(Oct 25, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr4:57333905
GRCh38:
Chr4:56467739
SRP72N35Snot providedUncertain significance
(Dec 1, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr4:57333907
GRCh38:
Chr4:56467741
SRP72K36*not providedUncertain significance
(Dec 20, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr4:57333912
GRCh38:
Chr4:56467746
SRP72not providedUncertain significance
(Jan 8, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr4:57333929
GRCh38:
Chr4:56467763
SRP72not providedLikely benign
(Jun 3, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr4:57333981
GRCh38:
Chr4:56467815
SRP72not providedBenign
(Apr 16, 2019)
criteria provided, single submitter
50.
GRCh37:
Chr4:57334035
GRCh38:
Chr4:56467869
SRP72not providedLikely benign
(Jun 21, 2019)
criteria provided, single submitter
51.
GRCh37:
Chr4:57334112
GRCh38:
Chr4:56467946
SRP72not providedBenign
(Oct 24, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr4:57334142
GRCh38:
Chr4:56467976
SRP72not providedBenign
(Sep 14, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr4:57335814
GRCh38:
Chr4:56469648
SRP72not provided, Autosomal dominant aplasia and myelodysplasiaConflicting interpretations of pathogenicity
(Sep 27, 2022)
criteria provided, conflicting interpretations
54.
GRCh37:
Chr4:57335817
GRCh38:
Chr4:56469651
SRP72not providedUncertain significance
(Sep 2, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr4:57335823
GRCh38:
Chr4:56469657
SRP72not providedLikely benign
(Jun 7, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr4:57335830
GRCh38:
Chr4:56469664
SRP72N41Hnot providedUncertain significance
(Oct 14, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr4:57335842
GRCh38:
Chr4:56469676
SRP72V45Lnot providedUncertain significance
(Sep 1, 2023)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr4:57335842
GRCh38:
Chr4:56469676
SRP72V45Inot provided, not specified, Autosomal dominant aplasia and myelodysplasia
Conflicting interpretations of pathogenicity
(Oct 5, 2022)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr4:57335853
GRCh38:
Chr4:56469687
SRP72not provided, Autosomal dominant aplasia and myelodysplasiaBenign/Likely benign
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr4:57335858
GRCh38:
Chr4:56469692
SRP72C50Ynot providedUncertain significance
(Mar 3, 2023)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr4:57335860
GRCh38:
Chr4:56469694
SRP72K51Enot providedUncertain significance
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr4:57335874
GRCh38:
Chr4:56469708
SRP72not providedLikely benign
(Sep 9, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr4:57335884
GRCh38:
Chr4:56469718
SRP72G59fsnot providedUncertain significance
(Aug 2, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr4:57335887
GRCh38:
Chr4:56469721
SRP72S60Gnot provided, Inborn genetic diseasesUncertain significance
(Mar 6, 2023)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr4:57335891
GRCh38:
Chr4:56469725
SRP72F61Cnot providedUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr4:57335900
GRCh38:
Chr4:56469734
SRP72A64VInborn genetic diseases, not specified, not provided
Uncertain significance
(Jul 20, 2023)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr4:57335915
GRCh38:
Chr4:56469749
SRP72N69Snot providedUncertain significance
(Mar 2, 2023)
criteria provided, single submitter
68.
GRCh37:
Chr4:57336054-57336055
GRCh38:
Chr4:56469888-56469889
SRP72not providedBenign
(Aug 16, 2019)
criteria provided, single submitter
69.
GRCh37:
Chr4:57336061-57336062
GRCh38:
Chr4:56469895-56469896
SRP72not providedLikely benign
(Jun 10, 2019)
criteria provided, single submitter
70.
GRCh37:
Chr4:57336138-57336139
GRCh38:
Chr4:56469972-56469973
SRP72not providedBenign
(Aug 16, 2019)
criteria provided, single submitter
71.
GRCh37:
Chr4:57336138-57336139
GRCh38:
Chr4:56469972-56469973
SRP72not providedLikely benign
(Aug 16, 2019)
criteria provided, single submitter
72.
GRCh37:
Chr4:57336139-57336140
GRCh38:
Chr4:56469973-56469974
SRP72not providedBenign
(Aug 11, 2019)
criteria provided, single submitter
73.
GRCh37:
Chr4:57336245-57336248
GRCh38:
Chr4:56470079-56470082
SRP72not providedBenign
(Jan 21, 2019)
criteria provided, single submitter
74.
GRCh37:
Chr4:57337613
GRCh38:
Chr4:56471447
SRP72not providedBenign
(Sep 14, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr4:57337866-57337867
GRCh38:
Chr4:56471700-56471701
SRP72not providedBenign
(Nov 2, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr4:57337867
GRCh38:
Chr4:56471701
SRP72not providedBenign
(May 6, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr4:57337867
GRCh38:
Chr4:56471701
SRP72not providedLikely benign
(Oct 10, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr4:57337867
GRCh38:
Chr4:56471701
SRP72not providedLikely benign
(Sep 13, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr4:57337886
GRCh38:
Chr4:56471720
SRP72not providedUncertain significance
(Oct 14, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr4:57337904
GRCh38:
Chr4:56471738
SRP72not specifiedUncertain significance
(Feb 27, 2020)
criteria provided, single submitter
81.
GRCh37:
Chr4:57337905
GRCh38:
Chr4:56471739
SRP72K84Enot providedUncertain significance
(Aug 7, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr4:57337910
GRCh38:
Chr4:56471744
SRP72not providedLikely benign
(Feb 16, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr4:57337913
GRCh38:
Chr4:56471747
SRP72not providedLikely benign
(Sep 7, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr4:57337916
GRCh38:
Chr4:56471750
SRP72not providedLikely benign
(Aug 16, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr4:57337922
GRCh38:
Chr4:56471756
SRP72not providedLikely benign
(Jul 6, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr4:57337929
GRCh38:
Chr4:56471763
SRP72N92Dnot providedUncertain significance
(Jul 8, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr4:57337944
GRCh38:
Chr4:56471778
SRP72A97Tnot providedUncertain significance
(Jan 6, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr4:57337949
GRCh38:
Chr4:56471783
SRP72not provided, Autosomal dominant aplasia and myelodysplasiaBenign
(Apr 10, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr4:57337955
GRCh38:
Chr4:56471789
SRP72not providedLikely benign
(Sep 10, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr4:57337969
GRCh38:
Chr4:56471803
SRP72N105Snot providedUncertain significance
(Apr 25, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr4:57337974-57337977
GRCh38:
Chr4:56471808-56471811
SRP72D109fsnot providedUncertain significance
(Mar 27, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr4:57337987
GRCh38:
Chr4:56471821
SRP72L111Pnot providedUncertain significance
(Jan 18, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr4:57337995
GRCh38:
Chr4:56471829
SRP72L114Fnot providedUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr4:57338007
GRCh38:
Chr4:56471841
SRP72V118Mnot providedUncertain significance
(Sep 26, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr4:57338026
GRCh38:
Chr4:56471860
SRP72not providedLikely benign
(Aug 21, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr4:57338188
GRCh38:
Chr4:56472022
SRP72not providedBenign
(Apr 9, 2019)
criteria provided, single submitter
97.
GRCh37:
Chr4:57339931-57339932
GRCh38:
Chr4:56473765-56473766
SRP72not providedBenign
(Aug 10, 2019)
criteria provided, single submitter
98.
GRCh37:
Chr4:57340081
GRCh38:
Chr4:56473915
SRP72not providedLikely benign
(Mar 24, 2019)
criteria provided, single submitter
99.
GRCh37:
Chr4:57340109
GRCh38:
Chr4:56473943
SRP72not providedBenign
(Sep 14, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr4:57340214
GRCh38:
Chr4:56474048
SRP72not providedLikely benign
(Oct 8, 2022)
criteria provided, single submitter
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