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Did you mean EVC as a gene symbol? Search ClinVar for EVC

See EVC EvC ciliary complex subunit 1 in the Gene database

Search results

Items: 1 to 100 of 1252

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr4:36424-7361544
GRCh38:
Chr4:36424-7359817
See casesPathogenic
(Sep 4, 2012)
no assertion criteria providedVCV000154884
2.
GRCh37:
Chr4:36424-9371067
GRCh38:
Chr4:36424-9369341
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, FAM90A26, FGFR3, HGFAC, FGFRL1, GAK, GPR78, GRK4, GRPEL1, HAUS3, HMX1, 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, LOC123466231, LOC389199, LOC93622, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR378D1, MIR4274, MIR4798, MIR4800, MIR571, MIR943, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, 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 providedVCV000149173
3.
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, C4orf48, 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, LOC101928622, LOC101929161, LOC105374338, LOC105374344, LOC105374428, LOC105374516, LOC105377651, LOC106804089, LOC107986211, 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, LOC389199, LOC439933, LOC93622, 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, MSANTD1, MSX1, MXD4, MYL5, N4BP2, NAT8L, NCAPG, NELFA, 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 providedVCV000148186
4.
GRCh37:
Chr4:37336-15870679
GRCh38:
Chr4:37335-15869056
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, BOD1L1, BST1, C1QTNF7, C1QTNF7-AS1, C4orf48, 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, LOC105374338, LOC105374344, LOC106804089, LOC107986211, 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, LOC389199, LOC93622, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR12113, MIR3138, MIR378D1, MIR4274, MIR4798, MIR4800, MIR5091, MIR548I2, MIR571, MIR572, MIR943, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, 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 providedVCV000150735
5.
GRCh37:
Chr4:37336-9370984
GRCh38:
Chr4:37335-9369258
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, 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, 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, LOC123466231, LOC389199, LOC93622, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR378D1, MIR4274, MIR4798, MIR4800, MIR571, MIR943, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, 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 providedVCV000146749
6.
GRCh37:
Chr4:51413-17799819
GRCh38:
Chr4:51519-17798196
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, BOD1L1, BST1, C1QTNF7, C1QTNF7-AS1, C4orf48, 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, LOC105374338, LOC105374344, LOC106804089, LOC107986211, 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, LOC389199, LOC93622, LRPAP1, LYAR, MAEA, MAN2B2, MED28, MFSD10, MIR12113, MIR3138, MIR378D1, MIR4274, MIR4798, MIR4800, MIR5091, MIR548I2, MIR571, MIR572, MIR943, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, 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, 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 providedVCV000147969
7.
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, LOC389199, LOC93622, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR378D1, MIR4274, MIR4798, MIR4800, MIR571, MIR943, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, 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, UVSSA, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057239
8.
GRCh37:
Chr4:56772-14501384
GRCh38:
Chr4:56878-14499760
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, BOD1L1, C4orf48, C4orf50, CCDC96, CFAP99, CLNK, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DEFB131A, DGKQ, DOK7, DRD5, EVC, EVC2, FAM193A, FAM53A, FAM90A26, FGFR3, HGFAC, FGFRL1, GAK, GPR78, GRK4, GRPEL1, HAUS3, 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, LOC105374338, LOC105374344, LOC106804089, LOC107986211, 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, LOC389199, LOC93622, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR12113, MIR3138, MIR378D1, MIR4274, MIR4798, MIR4800, MIR5091, MIR548I2, MIR571, MIR572, MIR943, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, 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 submitterVCV000057874
9.
GRCh37:
Chr4:68345-20387231
GRCh38:
Chr4:68453-20385608
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, BOD1L1, BST1, C1QTNF7, C1QTNF7-AS1, C4orf48, 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, HGFAC, FGFRL1, GAK, GPR78, GRK4, GRPEL1, HAUS3, 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, LOC105374338, LOC105374344, LOC106804089, LOC107986211, 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, LOC389199, LOC93622, LRPAP1, LYAR, MAEA, MAN2B2, MED28, MFSD10, MIR12113, MIR3138, MIR378D1, MIR4274, MIR4798, MIR4800, MIR5091, MIR548I2, MIR571, MIR572, MIR943, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NCAPG, NELFA, 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
See casesPathogenic
(Mar 10, 2014)
no assertion criteria providedVCV000155646
10.
GRCh37:
Chr4:68345-14614077
GRCh38:
Chr4:68453-14612453
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, BOD1L1, C4orf48, 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, LOC105374338, LOC105374344, LOC106804089, LOC107986211, 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, LOC389199, LOC93622, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR12113, MIR3138, MIR378D1, MIR4274, MIR4798, MIR4800, MIR5091, MIR548I2, MIR571, MIR572, MIR943, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, 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 providedVCV000155619
11.
GRCh37:
Chr4:68345-6056753
GRCh38:
Chr4:68453-6055026
See casesPathogenic
(Aug 5, 2013)
no assertion criteria providedVCV000155480
12.
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, LOC389199, LOC93622, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR378D1, MIR4274, MIR4798, MIR4800, MIR571, MIR943, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, 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, UVSSA, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732
See casesPathogenic
(Mar 24, 2014)
no assertion criteria providedVCV000155310
13.
GRCh37:
Chr4:72447-21024037
GRCh38:
Chr4:72555-21022414
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, BOD1L1, BST1, C1QTNF7, C1QTNF7-AS1, C4orf48, 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, LOC105374338, LOC105374344, LOC106804089, LOC107986211, 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, LOC389199, LOC93622, LRPAP1, LYAR, MAEA, MAN2B2, MED28, MFSD10, MIR12113, MIR218-1, MIR3138, MIR378D1, MIR4274, MIR4798, MIR4800, MIR5091, MIR548I2, MIR571, MIR572, MIR943, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NCAPG, NSG1, NELFA, NKX1-1, NKX3-2, NOP14, NOP14-AS1, NSD2, 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 providedVCV000149255
14.
GRCh37:
Chr4:72447-12900236
GRCh38:
Chr4:72555-12898612
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, C4orf48, 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, LINC02447, LETM1, LINC00955, LINC01396, LINC01587, LINC02171, LINC02270, LINC02360, 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, 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, LOC389199, LOC93622, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR12113, MIR3138, MIR378D1, MIR4274, MIR4798, MIR4800, MIR548I2, MIR571, MIR572, MIR943, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, 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 providedVCV000149142
15.
GRCh37:
Chr4:72447-10252290
GRCh38:
Chr4:72555-10250666
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, C4orf48, 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, LOC105374338, LOC105374344, LOC106804089, LOC107986211, 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, LOC389199, LOC93622, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR3138, MIR378D1, MIR4274, MIR4798, MIR4800, MIR548I2, MIR571, MIR943, MIR95, MRFAP1, MRFAP1L1, MSANTD1, NOP14, MSX1, MXD4, MYL5, NAT8L, NELFA, NKX1-1, 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 providedVCV000147922
16.
GRCh37:
Chr4:72447-6245152
GRCh38:
Chr4:72555-6243425
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000147376
17.
GRCh37:
Chr4:72447-17279636
GRCh38:
Chr4:72555-17278013
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, BOD1L1, BST1, C1QTNF7, C1QTNF7-AS1, C4orf48, 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, FGFBP1, FGFBP2, FGFR3, HGFAC, FGFRL1, GAK, GPR78, GRK4, GRPEL1, HAUS3, HMX1, HS3ST1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KIAA0232, LDB2, LETM1, LINC00504, LINC00955, LINC01085, LINC01096, LINC01097, LINC01182, LINC01396, LINC01587, LINC02171, LINC02270, LINC02360, LINC02447, LINC02481, LINC02482, LINC02493, LINC02517, LOC100129931, LOC100130872, LOC101928279, LOC101928306, LOC105374338, LOC105374344, LOC106804089, LOC107986211, 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, LOC123477708, LOC123477709, LOC123477710, LOC389199, LOC93622, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR12113, MIR3138, MIR378D1, MIR4274, MIR4798, MIR4800, MIR5091, MIR548I2, MIR571, MIR572, MIR943, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, NKX1-1, NKX3-2, NOP14, NOP14-AS1, NSD2, NSG1, OTOP1, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PIGG, POLN, PPP2R2C, PROM1, 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, 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
(Feb 18, 2011)
no assertion criteria providedVCV000146353
18.
GRCh37:
Chr4:72447-15659658
GRCh38:
Chr4:72555-15658035
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, BOD1L1, C1QTNF7, C1QTNF7-AS1, C4orf48, C4orf50, CC2D2A, CCDC96, 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, LOC105374338, LOC105374344, LOC106804089, LOC107986211, 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, LOC389199, LOC93622, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR12113, MIR3138, MIR378D1, MIR4274, MIR4798, MIR4800, MIR5091, MIR548I2, MIR571, MIR572, MIR943, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, 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
(Dec 22, 2010)
no assertion criteria providedVCV000146219
19.
GRCh37:
Chr4:72447-39478764
GRCh38:
Chr4:72555-39477144
ABLIM2, ACOX3, ADD1, ADGRA3, ADRA2C, AFAP1, AFAP1-AS1, ANAPC4, ARAP2, ATP5ME, BLOC1S4, BOD1L1, BST1, C1QTNF7, C1QTNF7-AS1, C4orf19, C4orf48, C4orf50, CC2D2A, CCDC149, CCDC96, CCKAR, CD38, CFAP99, CLNK, CLRN2, CPEB2, CPEB2-DT, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DCAF16, DEFB131A, DGKQ, DHX15, DOK7, DRD5, DTHD1, EVC, EVC2, FAM114A1, FAM184B, FAM193A, FAM200B, FAM53A, FAM90A26, FBXL5, FGFBP1, FGFBP2, FGFR3, FGFRL1, GAK, GBA3, GPR78, GRK4, GRPEL1, HAUS3, HGFAC, HMX1, HS3ST1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KCNIP4, KCNIP4-IT1, KIAA0232, KLB, KLF3, KLF3-AS1, KLHL5, LAP3, LCORL, LDB2, LETM1, LGI2, LIAS, LINC00504, LINC00955, LINC01085, LINC01096, LINC01097, LINC01182, LINC01258, LINC01259, LINC01396, LINC01587, LINC02171, LINC02261, LINC02270, LINC02278, LINC02353, LINC02360, LINC02364, LINC02447, LINC02472, LINC02473, LINC02481, LINC02482, LINC02484, LINC02493, LINC02497, LINC02501, LINC02505, LINC02506, LINC02513, LINC02517, LINC02616, LOC100129931, LOC100130872, LOC100505912, LOC101928279, LOC101928306, LOC101928622, LOC101929161, LOC105374338, LOC105374344, LOC105374516, LOC105377651, LOC106804089, LOC107986211, LOC107992393, LOC109461479, LOC110120633, LOC110120693, LOC110120757, LOC110120784, LOC110121237, LOC110121305, LOC111465013, LOC111519897, LOC111721707, LOC111828517, LOC112939924, LOC112939928, LOC112939929, LOC112939930, LOC112939931, LOC112939932, LOC112939933, LOC112939934, LOC112939935, LOC112939936, LOC112942284, LOC112978664, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC114004385, LOC114827818, LOC116158483, LOC116158484, LOC116158485, LOC121048737, LOC121048738, LOC121048739, LOC121048740, LOC121048741, LOC121048742, 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, LOC389199, LOC439933, LOC93622, LRPAP1, LYAR, MAEA, MAN2B2, MED28, MFSD10, MIR12113, MIR12115, MIR1255B1, MIR218-1, MIR3138, MIR378D1, MIR4274, MIR4275, MIR4798, MIR4800, MIR4801, MIR5091, MIR548I2, MIR5591, MIR571, MIR572, MIR573, MIR574, MIR7978, MIR943, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NCAPG, NSG1, NELFA, NKX1-1, NKX3-2, NOP14, NOP14-AS1, NSD2, NWD2, OTOP1, PACRGL, PCDH7, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PGM2, PI4K2B, PIGG, POLN, PPARGC1A, PPP2R2C, PROM1, PSAPL1, PTTG2, QDPR, RAB28, RBPJ, RELL1, RFC1, RGS12, RNF212, RNF4, RPL9, S100P, SCARNA22, SEL1L3, SEPSECS, SEPSECS-AS1, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC2A9, SLC2A9-AS1, SLC34A2, SLC49A3, SLIT2, SLIT2-IT1, 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, TNIP2, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, UVSSA, WDR1, WDR19, WFS1, ZBTB49, ZCCHC4, ZFYVE28, ZNF141, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732
See casesPathogenic
(May 27, 2010)
no assertion criteria providedVCV000144195
20.
GRCh37:
Chr4:72447-33132242
GRCh38:
Chr4:72555-33130620
ABLIM2, ACOX3, ADD1, ADGRA3, ADRA2C, AFAP1, AFAP1-AS1, ANAPC4, ATP5ME, BLOC1S4, BOD1L1, BST1, C1QTNF7, C1QTNF7-AS1, C4orf48, C4orf50, CC2D2A, CCDC149, CCDC96, CCKAR, CD38, CFAP99, CLNK, CLRN2, CPEB2, CPEB2-DT, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DCAF16, DEFB131A, DGKQ, DHX15, DOK7, DRD5, EVC, EVC2, FAM184B, FAM193A, FAM200B, FAM53A, FAM90A26, FBXL5, FGFBP1, FGFBP2, FGFR3, FGFRL1, GAK, GBA3, GPR78, GRK4, GRPEL1, HAUS3, HGFAC, HMX1, HS3ST1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KCNIP4, KCNIP4-IT1, KIAA0232, LAP3, LCORL, LDB2, LETM1, LGI2, LINC00504, LINC00955, LINC01085, LINC01096, LINC01097, LINC01182, LINC01396, LINC01587, LINC02171, LINC02261, LINC02270, LINC02353, LINC02360, LINC02364, LINC02447, LINC02472, LINC02473, LINC02481, LINC02482, LINC02493, LINC02497, LINC02501, LINC02506, LINC02517, LOC100129931, LOC100130872, LOC100505912, LOC101928279, LOC101928306, LOC101929161, LOC105374338, LOC105374344, LOC105374516, LOC105377651, LOC106804089, LOC107986211, LOC107992393, LOC109461479, LOC110120633, LOC110120693, LOC110120757, LOC110120784, LOC110121237, LOC110121305, LOC111519897, LOC111828517, LOC112939924, LOC112939928, LOC112939929, LOC112939930, LOC112939936, LOC112942284, LOC112978664, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC114004385, LOC114827818, LOC116158483, LOC116158484, LOC116158485, LOC121048737, LOC121048738, LOC121048739, LOC121048740, LOC121048741, LOC121048742, 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, LOC123477713, LOC123477714, LOC123477715, LOC123477716, LOC123477717, LOC123477718, LOC123477719, LOC123477720, LOC123477721, LOC123477723, LOC123477724, LOC123477725, LOC389199, LOC93622, LRPAP1, LYAR, MAEA, MAN2B2, MED28, MFSD10, MIR12113, MIR12115, MIR218-1, MIR3138, MIR378D1, MIR4274, MIR4275, MIR4798, MIR4800, MIR5091, MIR548I2, MIR571, MIR572, MIR573, MIR7978, MIR943, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NCAPG, NELFA, NKX1-1, NKX3-2, NOP14, NOP14-AS1, NSD2, NSG1, OTOP1, PACRGL, PCDH7, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PI4K2B, PIGG, POLN, PPARGC1A, PPP2R2C, PROM1, PSAPL1, QDPR, RAB28, RBPJ, RGS12, RNF212, RNF4, S100P, SCARNA22, SEL1L3, SEPSECS, SEPSECS-AS1, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC2A9, SLC2A9-AS1, SLC34A2, SLC49A3, SLIT2, SLIT2-IT1, SMIM20, SNORA75B, SNORD162, SOD3, SORCS2, SPON2, STIM2, STIM2-AS1, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TAPT1, TAPT1-AS1, TBC1D14, TBC1D19, 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, ZCCHC4, ZFYVE28, ZNF141, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058011
21.
GRCh37:
Chr4:72447-28067931
GRCh38:
Chr4:72555-28066309
MIR4800, MIR5091, MIR548I2, MIR571, MIR572, MIR573, MIR7978, MIR943, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NCAPG, NELFA, NKX1-1, NKX3-2, NOP14, NOP14-AS1, NSD2, NSG1, OTOP1, PACRGL, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PI4K2B, PIGG, POLN, PPARGC1A, PPP2R2C, PROM1, PSAPL1, QDPR, RAB28, RBPJ, RGS12, RNF212, RNF4, S100P, SCARNA22, SEL1L3, SEPSECS, SEPSECS-AS1, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC2A9, SLC2A9-AS1, SLC34A2, SLC49A3, SLIT2, SLIT2-IT1, SMIM20, SNORA75B, SNORD162, SOD3, SORCS2, SPON2, STIM2, STIM2-AS1, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TAPT1, TAPT1-AS1, TBC1D14, TBC1D19, 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, ZCCHC4, ZFYVE28, ZNF141, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732, ABLIM2, ACOX3, ADD1, ADGRA3, ADRA2C, AFAP1, AFAP1-AS1, ANAPC4, ATP5ME, BLOC1S4, BOD1L1, BST1, C1QTNF7, C1QTNF7-AS1, C4orf48, C4orf50, CC2D2A, CCDC149, CCDC96, CCKAR, CD38, CFAP99, CLNK, CLRN2, CPEB2, CPEB2-DT, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DCAF16, DEFB131A, DGKQ, DHX15, DOK7, DRD5, EVC, EVC2, FAM184B, FAM193A, FAM200B, FAM53A, FAM90A26, FBXL5, FGFBP1, FGFBP2, FGFR3, FGFRL1, GAK, GBA3, GPR78, GRK4, GRPEL1, HAUS3, HGFAC, HMX1, HS3ST1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KCNIP4, KCNIP4-IT1, KIAA0232, LAP3, LCORL, LDB2, LETM1, LGI2, LINC00504, LINC00955, LINC01085, LINC01096, LINC01097, LINC01182, LINC01396, LINC01587, LINC02171, LINC02261, LINC02270, LINC02360, LINC02447, LINC02473, LINC02481, LINC02482, LINC02493, LINC02517, LOC100129931, LOC100130872, LOC100505912, LOC101928279, LOC101928306, LOC101929161, LOC105374338, LOC105374344, LOC105374516, LOC106804089, LOC107986211, LOC107992393, LOC109461479, LOC110120633, LOC110120693, LOC110120757, LOC110120784, LOC110121237, LOC110121305, LOC111519897, LOC111828517, LOC112939924, LOC112939928, LOC112939929, LOC112939930, LOC112939936, LOC112942284, LOC112978664, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC114004385, LOC114827818, LOC116158483, LOC116158484, LOC116158485, LOC121048737, LOC121048738, LOC121048739, LOC121048740, LOC121048741, 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, LOC123477713, LOC123477714, LOC123477715, LOC123477716, LOC123477717, LOC123477718, LOC123477719, LOC123477720, LOC123477721, LOC123477723, LOC123477724, LOC389199, LOC93622, LRPAP1, LYAR, MAEA, MAN2B2, MED28, MFSD10, MIR12113, MIR12115, MIR218-1, MIR3138, MIR378D1, MIR4274, MIR4798
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057902
22.
GRCh37:
Chr4:72447-7831152
GRCh38:
Chr4:72555-7829425
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057901
23.
GRCh37:
Chr4:78470-15627196
GRCh38:
Chr4:78578-15625573
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, BOD1L1, C1QTNF7, C1QTNF7-AS1, C4orf48, C4orf50, CC2D2A, CCDC96, CFAP99, CLNK, CPEB2, CPEB2-DT, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DEFB131A, DGKQ, DOK7, DRD5, EVC, EVC2, FAM193A, 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, LOC105374338, LOC105374344, LOC106804089, LOC107986211, 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, LOC389199, LOC93622, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR12113, MIR3138, MIR378D1, MIR4274, MIR4798, MIR4800, MIR5091, MIR548I2, MIR571, MIR572, MIR943, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, 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 30, 2010)
no assertion criteria providedVCV000146023
24.
GRCh37:
Chr4:78470-10337237
GRCh38:
Chr4:78578-10335613
HGFAC, HMX1, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC116158483, MIR4800, MIR548I2, MIR571, STX18, STX18-AS1, STX18-IT1, UVSSA, WDR1, ZNF721, ZNF732, TMEM271, TNIP2, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, MIR943, MIR95, PDE6B-AS1, PIGG, POLN, PPP2R2C, PSAPL1, RGS12, RNF212, MRFAP1, MRFAP1L1, MSANTD1, NOP14, NOP14-AS1, TACC3, TADA2B, TBC1D14, TMEM128, TMEM129, TMEM175, LOC116158484, LOC116158485, LOC121048737, LOC121048738, LOC121725168, LOC123466217, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466229, LOC123466230, LOC123466231, LOC123466218, LOC123466219, LOC123466220, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KIAA0232, LETM1, LINC00955, LINC01396, LINC02482, LINC02517, LOC100129931, LOC100130872, LOC123466226, LOC123466227, LOC123466228, LINC01587, LINC02171, LINC02447, LINC02481, LOC101928279, LOC101928306, LOC105374338, LOC105374344, LOC106804089, LOC107986211, LOC107992393, LOC109461479, LOC110120693, LOC110120757, LOC110121237, LOC111519897, LOC112939930, LOC112939936, LOC112942284, LOC112978664, LOC123466232, LOC123466233, LOC123466234, LOC389199, LOC93622, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR3138, MIR378D1, MIR4274, MIR4798, MSX1, MXD4, MYL5, NAT8L, NELFA, NKX1-1, NSD2, NSG1, OTOP1, PCGF3, PCGF3-AS1, PDE6B, RNF4, S100P, SCARNA22, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC2A9, SLC2A9-AS1, SLC49A3, SNORD162, SORCS2, SPON2, STK32B, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF595, ZNF718, ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, C4orf48, 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
See casesPathogenic
(Nov 30, 2010)
no assertion criteria providedVCV000146010
25.
GRCh37:
Chr4:85040-38701987
GRCh38:
Chr4:85149-38700366
ABLIM2, ACOX3, ADD1, ADGRA3, ADRA2C, AFAP1, AFAP1-AS1, ANAPC4, ARAP2, ATP5ME, BLOC1S4, BOD1L1, BST1, C1QTNF7, C1QTNF7-AS1, C4orf19, C4orf48, C4orf50, CC2D2A, CCDC149, CCDC96, CCKAR, CD38, CFAP99, CLNK, CLRN2, CPEB2, CPEB2-DT, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DCAF16, DEFB131A, DGKQ, DHX15, DOK7, DRD5, DTHD1, EVC, EVC2, FAM184B, FAM193A, FAM200B, FAM53A, FAM90A26, FBXL5, FGFBP1, FGFBP2, FGFR3, HAUS3, FGFRL1, GAK, GBA3, GPR78, GRK4, GRPEL1, HGFAC, HMX1, HS3ST1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KCNIP4, KCNIP4-IT1, KIAA0232, KLF3, KLF3-AS1, LAP3, LCORL, LDB2, LETM1, LGI2, LINC00504, LINC00955, LINC01085, LINC01096, LINC01097, LINC01182, LINC01258, LINC01259, LINC01396, LINC01587, LINC02171, LINC02261, LINC02270, LINC02278, LINC02353, LINC02360, LINC02364, LINC02447, LINC02472, LINC02473, LINC02481, LINC02482, LINC02484, LINC02493, LINC02497, LINC02501, LINC02505, LINC02506, LINC02513, LINC02517, LINC02616, LOC100129931, LOC100130872, LOC100505912, LOC101928279, LOC101928306, LOC101928622, LOC101929161, LOC105374338, LOC105374344, LOC105374516, LOC105377651, LOC106804089, LOC107986211, LOC107992393, LOC109461479, LOC110120633, LOC110120693, LOC110120757, LOC110120784, LOC110121237, LOC110121305, LOC111465013, LOC111519897, LOC111721707, LOC111828517, LOC112939924, LOC112939928, LOC112939929, LOC112939930, LOC112939931, LOC112939932, LOC112939936, LOC112942284, LOC112978664, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC114004385, LOC114827818, LOC116158483, LOC116158484, LOC116158485, LOC121048737, LOC121048738, LOC121048739, LOC121048740, LOC121048741, LOC121048742, 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, LOC389199, LOC439933, LOC93622, LRPAP1, LYAR, MAEA, MAN2B2, MED28, MFSD10, MIR12113, MIR12115, MIR1255B1, MIR218-1, MIR3138, MIR378D1, MIR4274, MIR4275, MIR4798, MIR4800, MIR4801, MIR5091, MIR548I2, MIR571, MIR572, MIR573, MIR7978, MIR943, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NCAPG, NELFA, NKX1-1, NKX3-2, NOP14, NOP14-AS1, NSD2, NSG1, NWD2, OTOP1, PACRGL, PCDH7, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PGM2, PI4K2B, PIGG, POLN, PPARGC1A, PPP2R2C, PROM1, PSAPL1, PTTG2, QDPR, RAB28, RBPJ, RELL1, RGS12, RNF212, RNF4, S100P, SCARNA22, SEL1L3, SEPSECS, SEPSECS-AS1, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC2A9, SLC2A9-AS1, SLC34A2, SLC49A3, SLIT2, SLIT2-IT1, SMIM20, SNORA75B, SNORD162, SOD3, SORCS2, SPON2, STIM2, STIM2-AS1, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TAPT1, TAPT1-AS1, TBC1D1, TBC1D14, TBC1D19, TMEM128, TMEM129, TMEM175, TMEM271, TNIP2, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22,