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Items: 1 to 100 of 751

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh38:
Chr4:1-49062177
ATP5ME, CRMP1, FRYL, KLF3-AS1, LINC02501, LOC112942284, LOC112942285, LOC123466227, LOC123466228, LOC126806939, LOC126806972, LOC126807004, LOC126807036, MIR218-1, MIR3138, PCGF3-AS1, SEL1L3, STX18-IT1, USP17L15, ZNF721, ZNF732, USP17L21, USP17L22, USP17L24, USP17L25, TACC3, TADA2B, TAPT1, TAPT1-AS1, TBC1D1, TBC1D14, TBC1D19, TEC, USP17L17, USP17L18, USP17L19, SEPSECS, SH3BP2, SH3TC1, SHISA3, PDE6B-AS1, PDS5A, PGM2, SLAIN2, SLBP, SLC10A4, SEPSECS-AS1, USP17L20, MIR4275, MIR4798, MIR4800, MIR4801, MIR4802, MIR5091, MIR548I2, MIR5591, MIR571, MIR572, MIR573, MIR574, MIR7978, MIR8053, PDE6B, PHOX2B, PHOX2B-AS1, PI4K2B, LOC126807037, LOC126807038, LOC126807040, LOC126807041, LOC126807042, LOC126807011, LOC126807012, LOC126807043, LOC126807044, LOC126807045, PIGG, MIR378D1, MIR4274, LOC126807005, LOC126806975, LOC126806976, LOC126806977, LOC126806978, LOC126806979, LOC126806980, LOC126807006, LOC126807007, LOC126807008, LOC126807009, LOC126806940, LOC126806943, LOC126806944, LOC126806945, LOC126806946, LOC126806947, LOC123466233, LOC123466234, LOC126806941, LOC126806942, LOC126807010, LOC126806973, LOC126806974, LOC123466229, LOC123466230, LOC123466235, LOC123477707, LOC114004383, LOC114004385, LOC114827818, LOC116158483, LOC116158484, LOC116158485, LOC112978667, LOC112978668, LOC123477708, LOC123477709, LOC123477710, LOC123477711, LOC123477712, LOC123477713, LOC123477714, LOC123477715, LOC123466231, LOC123466232, LOC112942286, LOC112942287, LOC112997536, LOC114004382, LOC112978663, LOC112978664, LINC02505, LINC02513, LINC02517, LINC02616, LOC100129931, LOC100130872, LOC100505912, LOC101927157, LOC101927179, LINC01097, LOC101928279, LOC101928306, LINC02506, KLHL5, LAP3, GBA3, GNPDA2, GPR78, GABRA4, GABRB1, LCORL, LDB2, LINC00955, LINC01085, CTBP1, CWH43, CYTL1, DCAF16, DCAF4L1, DEFB131A, DGKQ, CTBP1-AS, CTBP1-DT, LINC01096, GABRA2, GABRG1, GAK, ATP8A1, BOD1L1, BST1, C1QTNF7, C1QTNF7-AS1, C4orf19, BEND4, BLOC1S4, ABLIM2, ACOX3, ADD1, ADGRA3, ADRA2C, AFAP1, AFAP1-AS1, ANAPC4, APBB2, ARAP2, ATP10D, C4orf50, CC2D2A, CCDC149, CCDC96, CCKAR, CD38, CFAP99, CHRNA9, CLNK, CLRN2, CNGA1, COMMD8, CORIN, COX7B2, CPEB2, CPEB2-DT, CPLX1, CPZ, CRIPAK, DHX15, DOK7, DRD5, DTHD1, EVC, EVC2, FAM114A1, FAM184B, FAM193A, FAM200B, FAM53A, FAM90A26, FBXL5, FGFBP1, FGFBP2, FGFR3, FGFRL1, GRK4, GRPEL1, GRXCR1, GUF1, HAUS3, HGFAC, HMX1, HS3ST1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KCNIP4, KCNIP4-IT1, KCTD8, KIAA0232, KLB, KLF3, LETM1, LGI2, LIAS, LIMCH1, LINC00504, LINC00682, LINC01182, LINC01258, LINC01259, LINC01396, LINC01587, LINC02171, LINC02261, LINC02265, LINC02270, LINC02278, LINC02353, LINC02360, LINC02364, LINC02383, LINC02447, LINC02472, LINC02473, LINC02475, LINC02481, LINC02482, LINC02484, LINC02493, LINC02497, LOC101928532, LOC101928622, LOC101928721, LOC101929161, LOC105374338, LOC105374344, LOC105374409, LOC105374426, LOC105374428, LOC105374438, LOC105374511, LOC105374516, LOC105374556, LOC105374557, LOC105377651, LOC106804089, LOC107986178, LOC107992393, LOC109461479, LOC110011216, LOC110120633, LOC110120693, LOC110120757, LOC110120784, LOC110120787, LOC110121237, LOC110121305, LOC110121309, LOC111365176, LOC111465010, LOC111465013, LOC111519897, LOC111721707, LOC111828517, LOC112939924, LOC112939928, LOC112939929, LOC112939930, LOC112939931, LOC112939932, LOC112939933, LOC112939934, LOC112939935, LOC112939936, LOC116158486, LOC121048737, LOC121048738, LOC121048739, LOC121048740, LOC121048741, LOC121048742, LOC121048743, LOC121048744, LOC121048745, LOC121053178, LOC121725168, LOC121725169, LOC121725170, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123477716, LOC123477717, LOC123477718, LOC123477719, LOC123477720, LOC123477721, LOC123477723, LOC123477724, LOC123477725, LOC123477726, LOC123477727, LOC123477728, LOC123477729, LOC123477730, LOC123477731, LOC123477732, LOC123477733, LOC123477734, LOC123477735, LOC123477736, LOC123477737, LOC123477738, LOC123477739, LOC123477740, LOC126806948, LOC126806949, LOC126806950, LOC126806951, LOC126806952, LOC126806953, LOC126806954, LOC126806955, LOC126806956, LOC126806957, LOC126806958, LOC126806959, LOC126806960, LOC126806961, LOC126806962, LOC126806963, LOC126806964, LOC126806965, LOC126806966, LOC126806967, LOC126806968, LOC126806969, LOC126806970, LOC126806971, LOC126806981, LOC126806982, LOC126806983, LOC126806984, LOC126806985, LOC126806986, LOC126806987, LOC126806988, LOC126806989, LOC126806990, LOC126806991, LOC126806992, LOC126806993, LOC126806994, LOC126806995, LOC126806996, LOC126806997, LOC126806998, LOC126806999, LOC126807000, LOC126807001, LOC126807002, LOC126807003, LOC126807013, LOC126807014, LOC126807015, LOC126807016, LOC126807017, LOC126807018, LOC126807019, LOC126807020, LOC126807021, LOC126807022, LOC126807023, LOC126807024, LOC126807025, LOC126807026, LOC126807027, LOC126807028, LOC126807029, LOC126807030, LOC126807031, LOC126807032, LOC126807033, LOC126807034, LOC126807035, LOC126807046, LOC126807047, LOC126807048, LOC126807049, LOC126807050, LOC126807051, LOC126807052, LOC128125818, LOC128854699, LOC128854700, LOC128854701, LOC128854702, LOC389199, LOC439933, LRPAP1, LYAR, MAEA, MAN2B2, MED28, MFSD10, MIR12113, MIR12115, MIR1255B1, MIR943, MIR95, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, N4BP2, NAT8L, NCAPG, NELFA, NFXL1, NICOL1, NIPAL1, NKX1-1, NKX3-2, NOP14, NOP14-AS1, NSD2, NSG1, NSUN7, NWD2, OCIAD1, OCIAD1-AS1, OCIAD2, OTOP1, PACRGL, PCDH7, PCGF3, POLN, PPARGC1A, PPP2R2C, PROM1, PSAPL1, PTTG2, QDPR, RAB28, RBM47, RBPJ, RELL1, RFC1, RGS12, RHOH, RNF212, RNF4, RPL9, S100P, SCARNA22, SLC26A1, SLC2A9, SLC2A9-AS1, SLC30A9, SLC34A2, SLC49A3, SLIT2, SLIT2-IT1, SMIM14, SMIM14-DT, SMIM20, SNORA75B, SNORD162, SOD3, SORCS2, SPON2, STIM2, STIM2-AS1, STK32B, STX18, STX18-AS1, TLR1, TLR10, TLR6, TMEM128, TMEM129, TMEM156, TMEM175, TMEM271, TMEM33, TNIP2, TRMT44, TXK, UBE2K, UCHL1, UCHL1-DT, UGDH, UGDH-AS1, USP17L10, USP17L11, USP17L12, USP17L13, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, UVSSA, WDR1, WDR19, WFS1, YIPF7, ZAR1, ZBTB49, ZCCHC4, ZFYVE28, ZNF141, ZNF518B, ZNF595, ZNF718
Neurodevelopmental disorderPathogenic
(Aug 24, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr4:36424-3883057
GRCh38:
Chr4:36424-3881330
See casesPathogenic
(Dec 17, 2012)
no assertion criteria provided
3.
GRCh37:
Chr4:36424-7361544
GRCh38:
Chr4:36424-7359817
ADD1, ADRA2C, ATP5ME, BLOC1S4, C4orf48, C4orf50, CCDC96, CFAP99, CPLX1, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DGKQ, DOK7, EVC, EVC2, FAM193A, FAM53A, FGFR3, FGFRL1, GAK, GRK4, GRPEL1, HAUS3, HGFAC, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KIAA0232, LINC02482, LETM1, LINC00955, LINC01396, LINC01587, LINC02171, LINC02447, LINC02481, LOC100129931, LOC100130872, LOC101928279, LOC101928306, LOC105374338, LOC105374344, LOC106804089, LOC107986211, LOC109461479, LOC110120693, LOC110120757, LOC110121237, LOC111519897, LOC112939930, LOC112939936, LOC112942284, LOC112978664, LOC114004382, LOC114004383, LOC116158483, LOC116158484, LOC121048737, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123466227, 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, LOC128125818, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR378D1, MIR4798, MIR4800, MIR571, MIR943, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, NAT8L, OTOP1, NELFA, NKX1-1, NOP14, NOP14-AS1, NSD2, NSG1, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PIGG, POLN, PPP2R2C, RGS12, RNF212, RNF4, S100P, SCARNA22, SH3BP2, SLBP, SLC26A1, SLC49A3, SNORD162, SORCS2, SPON2, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TBC1D14, TMEM128, TMEM129, TMEM175, TMEM271, TNIP2, UVSSA, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732
See casesPathogenic
(Sep 4, 2012)
no assertion criteria provided
4.
GRCh37:
Chr4:36424-3975771
GRCh38:
Chr4:36424-3974044
See casesPathogenic
(May 14, 2012)
no assertion criteria provided
5.
GRCh37:
Chr4:36424-4098729
GRCh38:
Chr4:36424-4097002
See casesPathogenic
(Jun 1, 2012)
no assertion criteria provided
6.
GRCh37:
Chr4:36424-3267258
GRCh38:
Chr4:36424-3265531
See casesPathogenic
(Jul 25, 2012)
no assertion criteria provided
7.
GRCh37:
Chr4:36424-9371067
GRCh38:
Chr4:36424-9369341
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, C4orf50, CCDC96, CFAP99, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DGKQ, DOK7, EVC, EVC2, FAM193A, FAM53A, FAM90A26, FGFR3, FGFRL1, GAK, GPR78, GRK4, GRPEL1, HAUS3, HGFAC, HMX1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KIAA0232, LETM1, LINC00955, LINC01396, LINC01587, LINC02171, LINC02447, LINC02481, LINC02482, LINC02517, LOC100129931, LOC100130872, LOC101928279, LOC101928306, LOC101928532, LOC105374338, LOC105374344, LOC106804089, LOC107992393, LOC109461479, LOC110120693, LOC110120757, LOC110121237, LOC111519897, LOC112939930, LOC112939936, LOC112942284, LOC112978664, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC116158483, LOC116158484, LOC121048737, LOC121048738, LOC121725168, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123466227, LOC123466228, LOC123466229, LOC123466230, LOC123466231, 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, LOC128125818, LOC389199, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR378D1, MIR4274, MIR4798, MIR4800, MIR571, MIR943, MIR95, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, NICOL1, NKX1-1, NOP14, NOP14-AS1, NSD2, NSG1, OTOP1, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PIGG, POLN, PPP2R2C, PSAPL1, RGS12, RNF212, RNF4, S100P, SCARNA22, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC49A3, SNORD162, SORCS2, SPON2, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TBC1D14, TMEM128, TMEM129, TMEM175, TMEM271, TNIP2, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, UVSSA, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732
See casesPathogenic
(Mar 12, 2012)
no assertion criteria provided
8.
GRCh37:
Chr4:36424-47493612
GRCh38:
Chr4:36424-47491595
ABLIM2, ACOX3, ADD1, ADGRA3, ADRA2C, AFAP1, AFAP1-AS1, ANAPC4, APBB2, ARAP2, ATP10D, ATP5ME, ATP8A1, BEND4, BLOC1S4, BOD1L1, BST1, C1QTNF7, C1QTNF7-AS1, C4orf19, C4orf50, CC2D2A, CCDC149, CCDC96, CCKAR, CD38, CFAP99, CHRNA9, CLNK, CLRN2, COMMD8, COX7B2, CPEB2, CPEB2-DT, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DCAF16, DCAF4L1, DEFB131A, DGKQ, DHX15, DOK7, DRD5, DTHD1, EVC, EVC2, FAM114A1, FAM184B, FAM193A, FAM200B, FAM53A, FAM90A26, FBXL5, FGFBP1, FGFBP2, FGFR3, FGFRL1, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GBA3, GNPDA2, GPR78, GRK4, GRPEL1, GRXCR1, GUF1, HAUS3, HGFAC, HMX1, HS3ST1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KCNIP4, KCNIP4-IT1, KCTD8, KIAA0232, KLB, KLF3, KLF3-AS1, KLHL5, LAP3, LCORL, LDB2, LETM1, LGI2, LIAS, LIMCH1, LINC00504, LINC00682, LINC00955, LINC01085, LINC01096, LINC01097, LINC01182, LINC01258, LINC01259, LINC01396, LINC01587, LINC02171, LINC02261, LINC02265, LINC02270, LINC02278, LINC02353, LINC02360, LINC02364, LINC02383, LINC02447, LINC02472, LINC02473, LINC02475, LINC02481, LINC02482, LINC02484, LINC02493, LINC02497, LINC02501, LINC02505, LINC02506, LINC02513, LINC02517, LINC02616, LOC100129931, LOC100130872, LOC100505912, LOC101928279, LOC101928306, LOC101928532, LOC101928622, LOC101928721, LOC101929161, LOC105374338, LOC105374344, LOC105374409, LOC105374426, LOC105374428, LOC105374438, LOC105374511, LOC105374516, LOC105374556, LOC105374557, LOC105377651, LOC106804089, LOC107986178, LOC107992393, LOC109461479, LOC110011216, LOC110120633, LOC110120693, LOC110120757, LOC110120784, LOC110120787, LOC110121237, LOC110121305, 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, LOC114827818, LOC116158483, LOC116158484, LOC116158485, LOC121048737, LOC121048738, LOC121048739, LOC121048740, LOC121048741, LOC121048742, LOC121048743, LOC121048744, 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, 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, LOC128125818, LOC128854699, LOC128854700, LOC128854701, LOC128854702, LOC389199, LOC439933, LRPAP1, LYAR, MAEA, MAN2B2, MED28, MFSD10, MIR12113, MIR12115, MIR1255B1, MIR218-1, MIR3138, MIR378D1, MIR4274, MIR4275, MIR4798, MIR4800, MIR4801, MIR4802, MIR5091, MIR548I2, MIR5591, MIR571, MIR572, MIR573, MIR574, MIR7978, MIR943, MIR95, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, N4BP2, NAT8L, NCAPG, NELFA, NICOL1, NKX1-1, NKX3-2, NOP14, NOP14-AS1, NSD2, NSG1, NSUN7, NWD2, OTOP1, PACRGL, PCDH7, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PDS5A, PGM2, PHOX2B, PHOX2B-AS1, PI4K2B, PIGG, POLN, PPARGC1A, PPP2R2C, PROM1, PSAPL1, PTTG2, QDPR, RAB28, RBM47, RBPJ, RELL1, RFC1, RGS12, RHOH, RNF212, RNF4, RPL9, S100P, SCARNA22, SEL1L3, SEPSECS, SEPSECS-AS1, SH3BP2, SH3TC1, SHISA3, SLBP, SLC26A1, SLC2A9, SLC2A9-AS1, SLC30A9, SLC34A2, SLC49A3, SLIT2, SLIT2-IT1, SMIM14, SMIM14-DT, SMIM20, SNORA75B, SNORD162, SOD3, SORCS2, SPON2, STIM2, STIM2-AS1, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TAPT1, TAPT1-AS1, TBC1D1, TBC1D14, TBC1D19, TLR1, TLR10, TLR6, TMEM128, TMEM129, TMEM156, TMEM175, TMEM271, TMEM33, TNIP2, TRMT44, 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, UVSSA, WDR1, WDR19, WFS1, YIPF7, ZBTB49, ZCCHC4, ZFYVE28, ZNF141, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732
See casesPathogenic
(Mar 21, 2011)
no assertion criteria provided
9.
GRCh37:
Chr4:37336-15870679
GRCh38:
Chr4:37335-15869056
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, BOD1L1, BST1, C1QTNF7, C1QTNF7-AS1, C4orf50, CC2D2A, CCDC96, CD38, CFAP99, CLNK, CPEB2, CPEB2-DT, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DEFB131A, DGKQ, DOK7, DRD5, EVC, EVC2, FAM193A, FAM200B, FAM53A, FAM90A26, FBXL5, FGFR3, FGFRL1, GAK, GPR78, GRK4, GRPEL1, HAUS3, HGFAC, HMX1, HS3ST1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KIAA0232, LETM1, LINC00504, LINC00955, LINC01085, LINC01096, LINC01097, LINC01182, LINC01396, LINC01587, LINC02171, LINC02270, LINC02360, LINC02447, LINC02481, LINC02482, LINC02517, LOC100129931, LOC100130872, LOC101928279, LOC101928306, LOC101928532, LOC105374338, LOC105374344, LOC106804089, LOC107986178, LOC107992393, LOC109461479, LOC110120633, LOC110120693, LOC110120757, LOC110120784, LOC110121237, LOC111519897, LOC111828517, LOC112939930, LOC112939936, LOC112942284, LOC112978664, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC114827818, LOC116158483, LOC116158484, LOC116158485, LOC121048737, LOC121048738, LOC121048739, LOC121048740, LOC121725168, LOC121725169, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123466227, LOC123466228, LOC123466229, LOC123466230, LOC123466231, LOC123466232, LOC123466233, LOC123466234, LOC123466235, LOC123477707, 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, LOC128125818, LOC389199, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR12113, MIR3138, MIR378D1, MIR4274, MIR4798, MIR4800, MIR5091, MIR548I2, MIR571, MIR572, MIR943, MIR95, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, NICOL1, NKX1-1, NKX3-2, NOP14, NOP14-AS1, NSD2, NSG1, OTOP1, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PIGG, POLN, PPP2R2C, PSAPL1, RAB28, RGS12, RNF212, RNF4, S100P, SCARNA22, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC2A9, SLC2A9-AS1, SLC49A3, SNORD162, SORCS2, SPON2, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TBC1D14, TMEM128, TMEM129, TMEM175, TMEM271, TNIP2, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, UVSSA, WDR1, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
10.
GRCh37:
Chr4:37336-9370984
GRCh38:
Chr4:37335-9369258
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, C4orf50, CCDC96, CFAP99, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DGKQ, DOK7, EVC, EVC2, FAM193A, FAM53A, FAM90A26, FGFR3, FGFRL1, GAK, GPR78, GRK4, GRPEL1, HAUS3, HGFAC, HMX1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KIAA0232, LETM1, LINC00955, LINC01396, LINC01587, LINC02171, LINC02447, LINC02481, LINC02482, LINC02517, LOC100129931, LOC100130872, LOC101928279, LOC101928306, LOC101928532, LOC105374338, LOC105374344, LOC106804089, LOC107992393, LOC109461479, LOC110120693, LOC110120757, LOC110121237, LOC111519897, LOC112939930, LOC112939936, LOC112942284, LOC112978664, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC116158483, LOC116158484, LOC121048737, LOC121048738, LOC121725168, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123466227, LOC123466228, LOC123466229, LOC123466230, LOC123466231, 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, LOC128125818, LOC389199, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR378D1, MIR4274, MIR4798, MIR4800, MIR571, MIR943, MIR95, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, NICOL1, NKX1-1, NOP14, NOP14-AS1, NSD2, NSG1, OTOP1, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PIGG, POLN, PPP2R2C, PSAPL1, RGS12, RNF212, RNF4, S100P, SCARNA22, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC49A3, SNORD162, SORCS2, SPON2, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TBC1D14, TMEM128, TMEM129, TMEM175, TMEM271, TNIP2, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, UVSSA, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732
See casesPathogenic
(Oct 30, 2010)
no assertion criteria provided
11.
GRCh37:
Chr4:37336-3776839
GRCh38:
Chr4:37335-3775112
See casesPathogenic
(Aug 30, 2010)
no assertion criteria provided
12.
GRCh37:
Chr4:51413-17799819
GRCh38:
Chr4:51519-17798196
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, BOD1L1, BST1, C1QTNF7, C1QTNF7-AS1, C4orf50, CC2D2A, CCDC96, CD38, CFAP99, CLNK, CLRN2, CPEB2, CPEB2-DT, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DCAF16, DEFB131A, DGKQ, DOK7, DRD5, EVC, EVC2, FAM184B, FAM193A, FAM200B, FAM53A, FAM90A26, FBXL5, FGFBP1, FGFBP2, FGFR3, FGFRL1, GAK, GPR78, GRK4, GRPEL1, HAUS3, HGFAC, HMX1, HS3ST1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KIAA0232, LAP3, LDB2, LETM1, LINC00504, LINC00955, LINC01085, LINC01096, LINC01097, LINC01182, LINC01396, LINC01587, LINC02171, LINC02270, LINC02360, LINC02447, LINC02481, LINC02482, LINC02493, LINC02517, LOC100129931, LOC100130872, LOC101928279, LOC101928306, LOC101928532, LOC105374338, LOC105374344, LOC106804089, LOC107986178, LOC107992393, LOC109461479, LOC110120633, LOC110120693, LOC110120757, LOC110120784, LOC110121237, LOC111519897, LOC111828517, LOC112939924, LOC112939930, LOC112939936, LOC112942284, LOC112978664, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC114827818, LOC116158483, LOC116158484, LOC116158485, LOC121048737, LOC121048738, LOC121048739, LOC121048740, LOC121725168, LOC121725169, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123466227, LOC123466228, LOC123466229, LOC123466230, LOC123466231, LOC123466232, LOC123466233, LOC123466234, LOC123466235, LOC123477707, LOC123477708, LOC123477709, LOC123477710, 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, LOC128125818, LOC389199, LRPAP1, LYAR, MAEA, MAN2B2, MED28, MFSD10, MIR12113, MIR3138, MIR378D1, MIR4274, MIR4798, MIR4800, MIR5091, MIR548I2, MIR571, MIR572, MIR943, MIR95, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, NAT8L, PDE6B-AS1, NELFA, NICOL1, NKX1-1, NKX3-2, NOP14, NOP14-AS1, NSD2, NSG1, OTOP1, PCGF3, PCGF3-AS1, PDE6B, PIGG, POLN, PPP2R2C, PROM1, PSAPL1, QDPR, RAB28, RGS12, RNF212, RNF4, S100P, SCARNA22, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC2A9, SLC2A9-AS1, SLC49A3, SNORA75B, SNORD162, SORCS2, SPON2, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TAPT1, TAPT1-AS1, TBC1D14, TMEM128, TMEM129, TMEM175, TMEM271, TNIP2, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, UVSSA, WDR1, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
13.
GRCh37:
Chr4:51413-3776843
GRCh38:
Chr4:51519-3775116
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
14.
GRCh37:
Chr4:51413-8224525
GRCh38:
Chr4:51519-8222798
ABLIM2, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, C4orf48, C4orf50, CCDC96, CFAP99, CPLX1, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DGKQ, DOK7, EVC, EVC2, FAM193A, FAM53A, FGFR3, FGFRL1, GAK, GRK4, GRPEL1, HAUS3, HGFAC, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KIAA0232, LETM1, LINC00955, LINC01396, LINC01587, LINC02171, LINC02447, LINC02481, LINC02482, LOC100129931, LOC100130872, LOC101928279, LOC101928306, LOC105374338, LOC105374344, LOC106804089, LOC107986211, LOC107992393, LOC109461479, LOC110120693, LOC110120757, LOC110121237, LOC111519897, LOC112939930, LOC112939936, LOC112942284, LOC112978664, LOC112978667, LOC112978668, LOC114004382, LOC114004383, LOC116158483, LOC116158484, LOC121048737, LOC121048738, LOC121725168, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123466227, LOC123466228, LOC123466229, LOC123466230, 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, LOC128125818, LOC389199, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR378D1, MIR4274, MIR4798, MIR4800, MIR571, MIR943, MIR95, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, NAT8L, OTOP1, NELFA, NKX1-1, NOP14, NOP14-AS1, NSD2, NSG1, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PIGG, POLN, PPP2R2C, PSAPL1, RGS12, RNF212, RNF4, S100P, SCARNA22, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC49A3, SNORD162, SORCS2, SPON2, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TBC1D14, TMEM128, TMEM129, TMEM175, TMEM271, TNIP2, UVSSA, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
15.
GRCh37:
Chr4:56772-14501384
GRCh38:
Chr4:56878-14499760
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, BOD1L1, C4orf50, CCDC96, CFAP99, CLNK, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DEFB131A, DGKQ, DOK7, DRD5, EVC, EVC2, FAM193A, FAM53A, FAM90A26, FGFR3, FGFRL1, GAK, GPR78, GRK4, GRPEL1, HAUS3, HGFAC, HMX1, HS3ST1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KIAA0232, LETM1, LINC00504, LINC00955, LINC01085, LINC01096, LINC01097, LINC01182, LINC01396, LINC01587, LINC02171, LINC02270, LINC02360, LINC02447, LINC02481, LINC02482, LINC02517, LOC100129931, LOC100130872, LOC101928279, LOC101928306, LOC101928532, LOC105374338, LOC105374344, LOC106804089, LOC107986178, LOC107992393, LOC109461479, LOC110120633, LOC110120693, LOC110120757, LOC110120784, LOC110121237, LOC111519897, LOC111828517, LOC112939930, LOC112939936, LOC112942284, LOC112978664, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC114827818, LOC116158483, LOC116158484, LOC116158485, LOC121048737, LOC121048738, LOC121048739, LOC121048740, LOC121725168, LOC121725169, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123466227, LOC123466228, LOC123466229, LOC123466230, LOC123466231, LOC123466232, LOC123466233, LOC123466234, LOC123466235, LOC123477707, 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, LOC128125818, LOC389199, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR12113, MIR3138, MIR378D1, MIR4274, MIR4798, MIR4800, MIR5091, MIR548I2, MIR571, MIR572, MIR943, MIR95, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, NICOL1, NKX1-1, NKX3-2, NOP14, NOP14-AS1, NSD2, NSG1, OTOP1, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PIGG, POLN, PPP2R2C, PSAPL1, RAB28, RGS12, RNF212, RNF4, S100P, SCARNA22, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC2A9, SLC2A9-AS1, SLC49A3, SNORD162, SORCS2, SPON2, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TBC1D14, TMEM128, TMEM129, TMEM175, TMEM271, TNIP2, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, UVSSA, WDR1, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
16.
GRCh37:
Chr4:56772-3872380
GRCh38:
Chr4:56878-3870653
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
17.
GRCh37:
Chr4:68345-20387231
GRCh38:
Chr4:68453-20385608
LOC110120693, LOC110120757, LOC110120784, LOC110121237, LOC111519897, LOC111828517, LOC112939924, LOC112939930, LOC112939936, LOC112942284, LOC112978664, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC114827818, LOC116158483, LOC116158484, LOC116158485, LOC121048737, LOC121048738, LOC121048739, LOC121048740, LOC121725168, LOC121725169, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123466227, LOC123466228, LOC123466229, LOC123466230, LOC123466231, LOC123466232, LOC123466233, LOC123466234, LOC123466235, LOC123477707, LOC123477708, LOC123477709, LOC123477710, 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, LOC128125818, LOC389199, LRPAP1, LYAR, MAEA, MAN2B2, MED28, MFSD10, MIR12113, MIR3138, MIR378D1, MIR4274, MIR4798, MIR4800, MIR5091, MIR548I2, MIR571, MIR572, MIR943, MIR95, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NCAPG, NELFA, NICOL1, NKX1-1, NKX3-2, NOP14, NOP14-AS1, NSD2, NSG1, OTOP1, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PIGG, POLN, PPP2R2C, PROM1, PSAPL1, QDPR, RAB28, RGS12, RNF212, RNF4, S100P, SCARNA22, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC2A9, SLC2A9-AS1, SLC49A3, SLIT2, SNORA75B, SNORD162, SORCS2, SPON2, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TAPT1, TAPT1-AS1, TBC1D14, TMEM128, TMEM129, TMEM175, TMEM271, TNIP2, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, UVSSA, WDR1, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732, ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, BOD1L1, BST1, C1QTNF7, C1QTNF7-AS1, C4orf50, CC2D2A, CCDC96, CD38, CFAP99, CLNK, CLRN2, CPEB2, CPEB2-DT, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DCAF16, DEFB131A, DGKQ, DOK7, DRD5, EVC, EVC2, FAM184B, FAM193A, FAM200B, FAM53A, FAM90A26, FBXL5, FGFBP1, FGFBP2, FGFR3, FGFRL1, GAK, GPR78, GRK4, GRPEL1, HAUS3, HGFAC, HMX1, HS3ST1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KIAA0232, LAP3, LCORL, LDB2, LETM1, LINC00504, LINC00955, LINC01085, LINC01096, LINC01097, LINC01182, LINC01396, LINC01587, LINC02171, LINC02270, LINC02360, LINC02447, LINC02481, LINC02482, LINC02493, LINC02517, LOC100129931, LOC100130872, LOC101928279, LOC101928306, LOC101928532, LOC105374338, LOC105374344, LOC105374511, LOC106804089, LOC107986178, LOC107992393, LOC109461479, LOC110120633
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
18.
GRCh37:
Chr4:68345-14614077
GRCh38:
Chr4:68453-14612453
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, BOD1L1, C4orf50, CCDC96, CFAP99, CLNK, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DEFB131A, DGKQ, DOK7, DRD5, EVC, EVC2, FAM193A, FAM53A, FAM90A26, FGFR3, FGFRL1, GAK, GPR78, GRK4, GRPEL1, HAUS3, HGFAC, HMX1, HS3ST1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KIAA0232, LETM1, LINC00504, LINC00955, LINC01085, LINC01096, LINC01097, LINC01182, LINC01396, LINC01587, LINC02171, LINC02270, LINC02360, LINC02447, LINC02481, LINC02482, LINC02517, LOC100129931, LOC100130872, LOC101928279, LOC101928306, LOC101928532, LOC105374338, LOC105374344, LOC106804089, LOC107986178, LOC107992393, LOC109461479, LOC110120633, LOC110120693, LOC110120757, LOC110120784, LOC110121237, LOC111519897, LOC111828517, LOC112939930, LOC112939936, LOC112942284, LOC112978664, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC114827818, LOC116158483, LOC116158484, LOC116158485, LOC121048737, LOC121048738, LOC121048739, LOC121048740, LOC121725168, LOC121725169, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123466227, LOC123466228, LOC123466229, LOC123466230, LOC123466231, LOC123466232, LOC123466233, LOC123466234, LOC123466235, LOC123477707, 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, LOC128125818, LOC389199, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR12113, MIR3138, MIR378D1, MIR4274, MIR4798, MIR4800, MIR5091, MIR548I2, MIR571, MIR572, MIR943, MIR95, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, NICOL1, NKX1-1, NKX3-2, NOP14, NOP14-AS1, NSD2, NSG1, OTOP1, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PIGG, POLN, PPP2R2C, PSAPL1, RAB28, RGS12, RNF212, RNF4, S100P, SCARNA22, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC2A9, SLC2A9-AS1, SLC49A3, SNORD162, SORCS2, SPON2, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TBC1D14, TMEM128, TMEM129, TMEM175, TMEM271, TNIP2, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, UVSSA, WDR1, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732
See casesPathogenic
(Nov 27, 2013)
no assertion criteria provided
19.
GRCh37:
Chr4:68345-6056753
GRCh38:
Chr4:68453-6055026
See casesPathogenic
(Aug 5, 2013)
no assertion criteria provided
20.
GRCh37:
Chr4:68345-8731855
GRCh38:
Chr4:68453-8730129
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, C4orf48, C4orf50, CCDC96, CFAP99, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DGKQ, DOK7, EVC, EVC2, FAM193A, FAM53A, FGFR3, FGFRL1, GAK, GPR78, GRK4, GRPEL1, HAUS3, HGFAC, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KIAA0232, LETM1, LINC00955, LINC01396, LINC01587, LINC02171, LINC02447, LINC02481, LINC02482, LINC02517, LOC100129931, LOC100130872, LOC101928279, LOC101928306, LOC105374338, LOC105374344, LOC106804089, LOC107986211, LOC107992393, LOC109461479, LOC110120693, LOC110120757, LOC110121237, LOC111519897, LOC112939930, LOC112939936, LOC112942284, LOC112978664, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC116158483, LOC116158484, LOC121048737, LOC121048738, LOC121725168, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123466227, LOC123466228, LOC123466229, LOC123466230, 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, LOC128125818, LOC389199, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR378D1, MIR4274, MIR4798, MIR4800, MIR571, MIR943, MIR95, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, NAT8L, OTOP1, NELFA, NKX1-1, NOP14, NOP14-AS1, NSD2, NSG1, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PIGG, POLN, PPP2R2C, PSAPL1, RGS12, RNF212, RNF4, S100P, SCARNA22, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC49A3, SNORD162, SORCS2, SPON2, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TBC1D14, TMEM128, TMEM129, TMEM175, TMEM271, TNIP2, TRMT44, UVSSA, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732
See casesPathogenic
(Mar 24, 2014)
no assertion criteria provided
21.
GRCh37:
Chr4:72447-21024037
GRCh38:
Chr4:72555-21022414
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, BOD1L1, BST1, C1QTNF7, C1QTNF7-AS1, C4orf50, CC2D2A, CCDC96, CD38, CFAP99, CLNK, CLRN2, CPEB2, CPEB2-DT, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DCAF16, DEFB131A, DGKQ, DOK7, DRD5, EVC, EVC2, FAM184B, FAM193A, FAM200B, FAM53A, FAM90A26, FBXL5, FGFBP1, FGFBP2, FGFR3, FGFRL1, GAK, GPR78, GRK4, GRPEL1, HAUS3, HGFAC, HMX1, HS3ST1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KCNIP4, KIAA0232, LAP3, LCORL, LDB2, LETM1, LINC00504, LINC00955, LINC01085, LINC01096, LINC01097, LINC01182, LINC01396, LINC01587, LINC02171, LINC02270, LINC02360, LINC02447, LINC02481, LINC02482, LINC02493, LINC02517, LOC100129931, LOC100130872, LOC101928279, LOC101928306, LOC101928532, LOC105374338, LOC105374344, LOC105374511, LOC106804089, LOC107986178, LOC107992393, LOC109461479, LOC110120633, LOC110120693, LOC110120757, LOC110120784, LOC110121237, LOC111519897, LOC111828517, LOC112939924, LOC112939930, LOC112939936, LOC112942284, LOC112978664, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC114827818, LOC116158483, LOC116158484, LOC116158485, LOC121048737, LOC121048738, LOC121048739, LOC121048740, LOC121725168, LOC121725169, 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, 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, LOC128125818, LOC389199, LRPAP1, LYAR, MAEA, MAN2B2, MED28, MFSD10, MIR12113, MIR218-1, MIR3138, MIR378D1, MIR4274, MIR4798, MIR4800, MIR5091, MIR548I2, MIR571, MIR572, MIR943, MIR95, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NCAPG, NELFA, NICOL1, NKX1-1, NKX3-2, NOP14, NOP14-AS1, NSD2, NSG1, OTOP1, PACRGL, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PIGG, POLN, PPP2R2C, PROM1, PSAPL1, QDPR, RAB28, RGS12, RNF212, RNF4, S100P, SCARNA22, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC2A9, SLC2A9-AS1, SLC49A3, SLIT2, SLIT2-IT1, SNORA75B, SNORD162, SORCS2, SPON2, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TAPT1, TAPT1-AS1, TBC1D14, TMEM128, TMEM129, TMEM175, TMEM271, TNIP2, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, UVSSA, WDR1, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732
See casesPathogenic
(Apr 16, 2012)
no assertion criteria provided
22.
GRCh37:
Chr4:72447-12900236
GRCh38:
Chr4:72555-12898612
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, C4orf50, CCDC96, CFAP99, CLNK, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DEFB131A, DGKQ, DOK7, GRPEL1, DRD5, EVC, EVC2, FAM193A, FAM53A, FAM90A26, FGFR3, FGFRL1, GAK, GPR78, GRK4, HAUS3, HGFAC, HMX1, HS3ST1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KIAA0232, LETM1, LINC00955, LINC01396, LINC01587, LINC02171, LINC02270, LINC02360, LINC02447, LINC02481, LINC02482, LINC02517, LOC100129931, LOC100130872, LOC101928279, LOC101928306, LOC101928532, LOC105374338, LOC105374344, LOC106804089, LOC107986178, LOC107992393, LOC109461479, LOC110120693, LOC110120757, LOC110121237, LOC111519897, LOC112939930, LOC112939936, LOC112942284, LOC112978664, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC114827818, LOC116158483, LOC116158484, LOC116158485, LOC121048737, LOC121048738, LOC121725168, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123466227, LOC123466228, LOC123466229, LOC123466230, LOC123466231, LOC123466232, LOC123466233, LOC123466234, LOC123466235, 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, LOC128125818, LOC389199, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR12113, MIR3138, MIR378D1, MIR4274, MIR4798, MIR4800, MIR548I2, MIR571, MIR572, MIR943, MIR95, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, NICOL1, NKX1-1, NOP14, NOP14-AS1, NSD2, NSG1, OTOP1, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PIGG, POLN, PPP2R2C, PSAPL1, RGS12, RNF212, RNF4, S100P, SCARNA22, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC2A9, SLC2A9-AS1, SLC49A3, SNORD162, SORCS2, SPON2, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TBC1D14, TMEM128, TMEM129, TMEM175, TMEM271, TNIP2, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, UVSSA, WDR1, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732
See casesPathogenic
(Mar 9, 2012)
no assertion criteria provided
23.
GRCh37:
Chr4:72447-10252290
GRCh38:
Chr4:72555-10250666
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, C4orf50, CCDC96, CFAP99, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DEFB131A, DGKQ, DOK7, DRD5, EVC, EVC2, FAM193A, FAM53A, FAM90A26, FGFR3, FGFRL1, GAK, GPR78, GRK4, GRPEL1, HAUS3, HGFAC, HMX1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KIAA0232, LETM1, LINC00955, LINC01396, LINC01587, LINC02171, LINC02447, LINC02481, LINC02482, LINC02517, LOC100129931, LOC100130872, LOC101928279, LOC101928306, LOC101928532, LOC105374338, LOC105374344, LOC106804089, LOC107992393, LOC109461479, LOC110120693, LOC110120757, LOC110121237, LOC111519897, LOC112939930, LOC112939936, LOC112942284, LOC112978664, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC116158483, LOC116158484, LOC116158485, LOC121048737, LOC121048738, LOC121725168, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123466227, LOC123466228, LOC123466229, LOC123466230, LOC123466231, LOC123466232, LOC123466233, 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, LOC128125818, LOC389199, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR3138, MIR378D1, MIR4274, MIR4798, MIR4800, MIR548I2, MIR571, MIR943, MIR95, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, NICOL1, NKX1-1, NOP14, NOP14-AS1, NSD2, NSG1, OTOP1, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PIGG, POLN, PPP2R2C, PSAPL1, RGS12, RNF212, RNF4, S100P, SCARNA22, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC2A9, SLC2A9-AS1, SLC49A3, SNORD162, SORCS2, SPON2, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TBC1D14, TMEM128, TMEM129, TMEM175, TMEM271, TNIP2, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, UVSSA, WDR1, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
24.
GRCh37:
Chr4:72447-3725774
GRCh38:
Chr4:72555-3724047
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
25.
GRCh37:
Chr4:72447-4360445
GRCh38:
Chr4:72555-4358718
See casesPathogenic
(Oct 14, 2010)
no assertion criteria provided
26.
GRCh37:
Chr4:72447-3563382
GRCh38:
Chr4:72555-3561655
See casesPathogenic
(Oct 1, 2010)
no assertion criteria provided
27.
GRCh37:
Chr4:72447-6245152
GRCh38:
Chr4:72555-6243425