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Items: 1 to 100 of 670

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:105955289-155551397
GRCh38:
Chr5:106619588-156124387
ABLIM3, ACSL6, ACSL6-AS1, ADAMTS19, ADAMTS19-AS1, ADRB2, AFAP1L1, AFF4, AFF4-DT, ALDH7A1, ANKHD1, ANKHD1-EIF4EBP3, ANXA6, AP3S1, APBB3, APC, ARAP3, ARHGAP26, ARHGAP26-AS1, ARHGAP26-IT1, ARHGEF37, ARL14EPL, ARSI, ATG12, ATOX1, ATOX1-AS1, BRD8, C5orf15, C5orf24, C5orf46, C5orf63, CAMK2A, CAMK4, CAMLG, CARMN, CATSPER3, CCDC112, CCDC192, CCDC69, CCNI2, CD14, CD74, CDC23, CDC25C, CDC42SE2, CDKL3, CDKN2AIPNL, CDO1, CDX1, CEP120, CHSY3, CLMAT3, CNOT8, COMMD10, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTB-1I21.1, CTB-99A3.1, CTNNA1, CTNNA1-AS1, CTXN3, CXCL14, CXXC5, CXXC5-AS1, CYSTM1, DCANP1, DCP2, DCTN4, DDX46, DELE1, DIAPH1, DIAPH1-AS1, DMXL1, DMXL1-DT, DNAJC18, DND1, DPYSL3, DTWD2, ECSCR, EFNA5, EGR1, EIF4EBP3, EPB41L4A, EPB41L4A-AS1, EPB41L4A-DT, EPIST, ETF1, FAM114A2, FAM13B, FAM13B-AS1, FAM170A, FAM53C, FAT2, FAXDC2, FBN2, FBXL17, FBXO38, FBXO38-DT, FCHSD1, FEM1C, FER, FGF1, FNIP1, FSTL4, FTMT, G3BP1, GALNT10, GDF9, GEMIN5, GFRA3, GLRA1, GM2A, GNPDA1, GPR151, GPX3, GRAMD2B, GRIA1, GRPEL2, GRPEL2-AS1, GRXCR2, HAND1, HARS1, HARS2, HBEGF, HDAC3, HINT1, HMGXB3, HMHB1, HNRNPA0, HSD17B4, HSPA4, HSPA9, HTR4, IGIP, IK, IL13, IL17B, IL3, IL4, IL5, IL9, IRF1, IRF1-AS1, IRGM, ISOC1, JADE2, JAKMIP2, JAKMIP2-AS1, KCNN2, KCTD16, KDM3B, KIF20A, KIF3A, KIF4B, KLHL3, LARP1, LARS1, LEAP2, LECT2, LINC00992, LINC01023, LINC01170, LINC01470, LINC01843, LINC01844, LINC01848, LINC01861, LINC01933, LINC01950, LINC01957, LINC02039, LINC02147, LINC02148, LINC02200, LINC02201, LINC02208, LINC02214, LINC02215, LINC02216, LINC02240, LINC02863, LINC02900, LINC02999, LINCADL, LMNB1, LMNB1-DT, LOC100128966, LOC100652758, LOC101927023, LOC101927078, LOC101927190, LOC101927357, LOC101927421, LOC101927488, LOC101929719, LOC102467216, LOC102467217, LOC102467226, LOC105378230, LOC105379157, LOC105379176, LOC105379183, LOC105379192, LOC107198087, LOC107986453, LOC108178993, LOC108228201, LOC108281143, LOC108449898, LOC108660405, LOC109113859, LOC109113860, LOC109113862, LOC110121070, LOC110121082, LOC110121084, LOC110121107, LOC110121118, LOC110121171, LOC110121173, LOC110121194, LOC110121202, LOC110121271, LOC110121303, LOC111188152, LOC111188153, LOC111188154, LOC111188156, LOC111365180, LOC111429606, LOC111500310, LOC111828524, LOC112267934, LOC112997552, LOC112997553, LOC112997554, LOC112997555, LOC112997556, LOC112997557, LOC112997558, LOC112997559, LOC112997560, LOC112997561, LOC112997562, LOC112997563, LOC112997564, LOC112997565, LOC112997566, LOC112997567, LOC112997568, LOC112997569, LOC112997570, LOC114004387, LOC114004388, LOC114004389, LOC114004390, LOC116158522, LOC116158523, LOC116158524, LOC116158525, LOC116158526, LOC119407423, LOC120285837, LOC121079954, LOC121079955, LOC121079956, LOC121079957, LOC121079958, LOC121079959, LOC121079960, LOC121079961, LOC121079962, LOC121099701, LOC121099702, LOC121099703, LOC121099704, LOC121099705, LOC121099706, LOC121099707, LOC121099708, LOC121099709, LOC121099710, LOC121725211, LOC121725212, LOC121725213, LOC121725214, LOC121725215, LOC121725216, LOC121725217, LOC121740630, LOC121740631, LOC123497947, LOC123497948, LOC123497949, LOC123497950, LOC123497951, LOC123497953, LOC123497954, LOC123497955, LOC123497956, LOC123497958, LOC123497959, LOC123497960, LOC123497961, LOC123497962, LOC123497963, LOC123497964, LOC123497965, LOC123497966, LOC123497967, LOC123497968, LOC123497969, LOC123497970, LOC123497971, LOC123497972, LOC123497973, LOC123497974, LOC123497975, LOC123497976, LOC123497977, LOC123497978, LOC123522801, LOC123522802, LOC123522803, LOC123522804, LOC123522805, LOC123522806, LOC123566730, LOC123566731, LOC123566732, LOC123566733, LOC123566734, LOC123575580, LOC123575581, LOC123575582, LOC123575583, LOC123575584, LOC123575585, LOC123575586, LOC123575587, LOC123575588, LOC123575589, LOC123575590, LOC123575592, LOC123575593, LOC123575594, LOC123575595, LOC123575596, LOC123575597, LOC123575598, LOC123575599, LOC123575600, LOC123575601, LOC123575602, LOC123575603, LOC123575604, LOC123575605, LOC126807471, LOC126807472, LOC126807473, LOC126807474, LOC126807475, LOC126807476, LOC126807477, LOC126807478, LOC126807479, LOC126807480, LOC126807481, LOC126807482, LOC126807483, LOC126807484, LOC126807485, LOC126807486, LOC126807487, LOC126807488, LOC126807489, LOC126807490, LOC126807491, LOC126807492, LOC126807493, LOC126807494, LOC126807495, LOC126807496, LOC126807497, LOC126807498, LOC126807499, LOC126807500, LOC126807501, LOC126807502, LOC126807503, LOC126807504, LOC126807505, LOC126807506, LOC126807507, LOC126807508, LOC126807509, LOC126807510, LOC126807511, LOC126807512, LOC126807513, LOC126807514, LOC126807515, LOC126807516, LOC126807517, LOC126807518, LOC126807519, LOC126807520, LOC126807521, LOC126807522, LOC126807523, LOC126807524, LOC126807525, LOC126807526, LOC126807527, LOC126807528, LOC126807529, LOC126807530, LOC126807531, LOC126807532, LOC126807533, LOC126807534, LOC126807535, LOC126807536, LOC126807537, LOC126807538, LOC126807539, LOC126807540, LOC126807541, LOC126807542, LOC126807543, LOC126807544, LOC126807545, LOC126807546, LOC126807547, LOC126807548, LOC126807549, LOC126807550, LOC126807551, LOC126807552, LOC126807553, LOC126807554, LOC126807555, LOC126807556, LOC126807557, LOC126807558, LOC126807559, LOC126807560, LOC126807561, LOC126807562, LOC126807563, LOC126807564, LOC126807565, LOC126807566, LOC127814297, LOC128772274, LOC285638, LOX, LRRTM2, LVRN, LYRM7, MACROH2A1, MALINC1, MAN2A1, MAN2A1-DT, MARCHF3, MARCOL, MATR3, MCC, MEGF10, MEIKIN, MFAP3, MGC32805, MINAR2, MIR12130, MIR1244-2, MIR1289-2, MIR1294, MIR1303, MIR143, MIR145, MIR3141, MIR3655, MIR3661, MIR378A, MIR378H, MIR3936, MIR3936HG, MIR4460, MIR4633, MIR5197, MIR548F3, MIR5692C1, MIR5706, MIR584, MIR6499, MIR6830, MIR6831, MIR874, MRPL22, MYOT, MYOZ3, MYOZ3-AS1, MZB1, NDFIP1, NDST1, NDST1-AS1, NDUFA2, NEUROG1, NME5, NMUR2, NR3C1, NREP, NREP-AS1, NRG2, P4HA2, P4HA2-AS1, PAIP2, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHACT, PCDHB1, PCDHB1-AS1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHG@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCYOX1L, PDE6A, PDGFRB, PDLIM4, PFDN1, PGGT1B, PHAX, PITX1, PITX1-AS1, PJA2, PKD2L2, PKD2L2-DT, PLAC8L1, POU4F3, PPARGC1B, PPIC, PPP2CA, PPP2R2B, PPP2R2B-IT1, PRDM6, PRDM6-AS1, PRELID2, PROB1, PRR16, PRRC1, PSD2, PSD2-AS1, PURA, RAD50, RAPGEF6, RBM22, RBM27, REEP2, REEP5, RELL2, RNF14, RPS14, SAP30L, SAP30L-AS1, SAR1B, SCGB3A2, SEC24A, SEMA6A, SEMA6A-AS1, SEMA6A-AS2, SEPTIN8, SGCD, SH3RF2, SH3TC2, SH3TC2-DT, SHROOM1, SIL1, SKP1, SLC12A2, SLC12A2-DT, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A46, SLC25A48, SLC25A48-AS1, SLC26A2, SLC27A6, SLC35A4, SLC36A1, SLC36A2, SLC36A3, SLC4A9, SLC6A7, SMAD5, SMAD5-AS1, SMIM3, SMIM32, SMIM33, SNCAIP, SNHG4, SNORA13, SNORA74A, SNORA74D, SNORD63, SNORD63B, SNX2, SNX24, SOWAHA, SPARC, SPATA24, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPMIP10, SPOCK1, SPRY4, SPRY4-AS1, SPRY4-IT1, SRA1, SRFBP1, SRP19, STARD4, STARD4-AS1, STING1, STK32A, STK32A-AS1, SYNPO, TAF7, TCERG1, TCF7, TCOF1, TGFBI, TH2-LCR, TH2LCRR, TICAM2, TICAM2-AS1, TIFAB, TIGD6, TMCO6, TMED7, TMED7-TICAM2, TMEM232, TNFAIP8, TNIP1, TRIM36, TRPC7, TRPC7-AS1, TRPC7-AS2, TSLP, TSSK1B, TXNDC15, UBE2B, UBE2D2, UQCRQ, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR36, WDR55, WNT8A, WSPAR, YIPF5, YTHDC2, ZCCHC10, ZMAT2, ZNF300, ZNF474, ZNF474-AS1, ZNF475, ZNF608
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr5:129183487-152733106
GRCh38:
Chr5:129847794-153353546
ARHGAP26, ARHGAP26-AS1, ARHGAP26-IT1, ARHGEF37, ARSI, ATOX1, ATOX1-AS1, BRD8, C5orf15, C5orf24, C5orf46, CAMK2A, CAMLG, CARMN, CATSPER3, CCDC69, CCNI2, CD14, CD74, CDC23, CDC25C, CDC42SE2, CDKL3, CDKN2AIPNL, CDX1, CHSY3, CLMAT3, CSF1R, CSF2, CSNK1A1, CTB-1I21.1, CTB-99A3.1, CTNNA1, CTNNA1-AS1, CXCL14, CXXC5, CXXC5-AS1, CYSTM1, DCANP1, DCTN4, DDX46, DELE1, DIAPH1, DIAPH1-AS1, DNAJC18, DND1, DPYSL3, ECSCR, EGR1, EIF4EBP3, EPIST, ETF1, FAM13B, FAM13B-AS1, FAM53C, FAT2, FBXO38, FBXO38-DT, FCHSD1, FGF1, FNIP1, FSTL4, G3BP1, GDF9, GFRA3, GLRA1, GM2A, GNPDA1, GPR151, GPX3, GRPEL2, GRPEL2-AS1, GRXCR2, HARS1, HARS2, HBEGF, HDAC3, HINT1, HMGXB3, HMHB1, HNRNPA0, HSPA4, HSPA9, HTR4, IGIP, IK, IL13, IL17B, IL3, IL4, IL5, IL9, IRF1, IRF1-AS1, IRGM, JADE2, JAKMIP2, JAKMIP2-AS1, KCTD16, KDM3B, KIF20A, KIF3A, KLHL3, LARS1, LEAP2, LECT2, LINC01470, LINC01843, LINC01844, LINC01933, LINC02863, LINC02900, LINC02999, LOC100128966, LOC100652758, LOC101929719, LOC105378230, LOC105379176, LOC105379183, LOC105379192, LOC107198087, LOC107986453, LOC108178993, LOC108281143, LOC108449898, LOC108660405, LOC109113859, LOC109113860, LOC109113862, LOC110121107, LOC110121118, LOC110121171, LOC110121202, LOC110121271, LOC111188152, LOC111188153, LOC111188154, LOC111188156, LOC111365180, LOC111429606, LOC111500310, LOC111828524, LOC112267934, LOC112997557, LOC112997558, LOC112997559, LOC112997560, LOC112997561, LOC112997562, LOC112997563, LOC112997564, LOC112997565, LOC112997566, LOC112997567, LOC112997568, LOC112997569, LOC114004387, LOC114004388, LOC114004389, LOC114004390, LOC116158522, LOC116158523, LOC116158524, LOC116158525, LOC119407423, LOC120285837, LOC121079960, LOC121079961, LOC121079962, LOC121099701, LOC121099702, LOC121099703, LOC121099704, LOC121099705, LOC121099706, LOC121099707, LOC121099708, LOC121099709, LOC121099710, LOC121725217, LOC121740630, LOC123497966, LOC123497967, LOC123497968, LOC123497969, LOC123497970, LOC123497971, LOC123497972, LOC123497973, LOC123497974, LOC123497975, LOC123497976, LOC123497977, LOC123497978, LOC123522801, LOC123522802, LOC123522803, LOC123522804, LOC123522805, LOC123522806, LOC123566730, LOC123566731, LOC123566732, LOC123566733, LOC123566734, LOC123575580, LOC123575581, LOC123575582, LOC123575583, LOC123575584, LOC123575585, LOC123575586, LOC123575587, LOC123575588, LOC123575589, LOC123575590, LOC123575592, LOC123575593, LOC123575594, LOC123575595, LOC123575596, LOC123575597, LOC123575598, LOC123575599, LOC123575600, LOC123575601, LOC123575602, LOC126807503, LOC126807504, LOC126807505, LOC126807506, LOC126807507, LOC126807508, LOC126807509, LOC126807510, LOC126807511, LOC126807512, LOC126807513, LOC126807514, LOC126807515, LOC126807516, LOC126807517, LOC126807518, LOC126807519, LOC126807520, LOC126807521, LOC126807522, LOC126807523, LOC126807524, LOC126807525, LOC126807526, LOC126807527, LOC126807528, LOC126807529, LOC126807530, LOC126807531, LOC126807532, LOC126807533, LOC126807534, LOC126807535, LOC126807536, LOC126807537, LOC126807538, LOC126807539, LOC126807540, LOC126807541, LOC126807542, LOC126807543, LOC126807544, LOC126807545, LOC126807546, LOC126807547, LOC126807548, LOC126807549, LOC126807550, LOC126807551, LOC126807552, LOC126807553, LOC126807554, LOC126807555, LOC126807556, LOC126807557, LOC126807558, LOC126807559, LOC126807560, LOC126807561, LOC127814297, LOC128772274, LRRTM2, LYRM7, MACROH2A1, MALINC1, MARCOL, MATR3, MEIKIN, MIR1289-2, MIR143, MIR145, MIR3655, MIR3661, MIR378A, MIR3936, MIR3936HG, MIR5197, MIR5692C1, MIR584, MIR6499, MIR6830, MIR6831, MIR874, MYOT, MYOZ3, MYOZ3-AS1, MZB1, NDFIP1, NDST1, NDST1-AS1, NDUFA2, NEUROG1, NME5, NMUR2, NR3C1, NRG2, P4HA2, P4HA2-AS1, PAIP2, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHACT, PCDHB1, PCDHB1-AS1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHG@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCYOX1L, PDE6A, PDGFRB, PDLIM4, PFDN1, PITX1, PITX1-AS1, PKD2L2, PKD2L2-DT, PLAC8L1, POU4F3, PPARGC1B, PPP2CA, PPP2R2B, PPP2R2B-IT1, PRELID2, PROB1, PSD2, PSD2-AS1, PURA, RAD50, RAPGEF6, RBM22, RBM27, REEP2, RELL2, RNF14, RPS14, SAR1B, SCGB3A2, SEC24A, SEPTIN8, SH3RF2, SH3TC2, SH3TC2-DT, SHROOM1, SIL1, SKP1, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A48, SLC25A48-AS1, SLC26A2, SLC35A4, SLC36A1, SLC36A2, SLC36A3, SLC4A9, SLC6A7, SMAD5, SMAD5-AS1, SMIM3, SMIM32, SMIM33, SNHG4, SNORA74A, SNORA74D, SNORD63, SNORD63B, SOWAHA, SPARC, SPATA24, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPOCK1, SPRY4, SPRY4-AS1, SPRY4-IT1, SRA1, STING1, STK32A, STK32A-AS1, SYNPO, TAF7, TCERG1, TCF7, TCOF1, TGFBI, TH2-LCR, TH2LCRR, TIFAB, TIGD6, TMCO6, TNIP1, TRPC7, TRPC7-AS1, TRPC7-AS2, TXNDC15, UBE2B, UBE2D2, UQCRQ, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR55, WNT8A, WSPAR, YIPF5, ZCCHC10, ZMAT2, ZNF300, ABLIM3, ACSL6, ACSL6-AS1, ADRB2, AFAP1L1, AFF4, AFF4-DT, ANKHD1, ANKHD1-EIF4EBP3, ANXA6, APBB3, ARAP3
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
3.
GRCh37:
Chr5:130196621-154701371
GRCh38:
Chr5:130860928-155321811
ABLIM3, ACSL6, ACSL6-AS1, ADRB2, AFAP1L1, AFF4, AFF4-DT, ANKHD1, ANKHD1-EIF4EBP3, ANXA6, APBB3, ARAP3, ARHGAP26, ARHGAP26-AS1, ARHGAP26-IT1, ARHGEF37, ARSI, ATOX1, ATOX1-AS1, BRD8, C5orf15, C5orf24, C5orf46, CAMK2A, CAMLG, CARMN, CATSPER3, CCDC69, CCNI2, CD14, CD74, CDC23, CDC25C, CDC42SE2, CDKL3, CDKN2AIPNL, CDX1, CLMAT3, CNOT8, CSF1R, CSF2, CSNK1A1, CTB-1I21.1, CTB-99A3.1, CTNNA1, CTNNA1-AS1, CXCL14, CXXC5, CXXC5-AS1, CYSTM1, DCANP1, DCTN4, DDX46, DELE1, DIAPH1, DIAPH1-AS1, DNAJC18, DND1, DPYSL3, ECSCR, EGR1, EIF4EBP3, EPIST, ETF1, FAM114A2, FAM13B, FAM13B-AS1, FAM53C, FAT2, FAXDC2, FBXO38, FBXO38-DT, FCHSD1, FGF1, FNIP1, FSTL4, G3BP1, GALNT10, GDF9, GEMIN5, GFRA3, GLRA1, GM2A, GNPDA1, GPR151, GPX3, GRIA1, GRPEL2, GRPEL2-AS1, GRXCR2, HAND1, HARS1, HARS2, HBEGF, HDAC3, HINT1, HMGXB3, HMHB1, HNRNPA0, HSPA4, HSPA9, HTR4, IGIP, IK, IL13, IL17B, IL3, IL4, IL5, IL9, IRF1, IRF1-AS1, IRGM, JADE2, JAKMIP2, JAKMIP2-AS1, KCTD16, KDM3B, KIF20A, KIF3A, KIF4B, KLHL3, LARP1, LARS1, LEAP2, LECT2, LINC01470, LINC01843, LINC01844, LINC01861, LINC01933, LINC02863, LINC02900, LINC02999, LOC100128966, LOC100652758, LOC101929719, LOC105378230, LOC105379176, LOC105379183, LOC105379192, LOC107198087, LOC107986453, LOC108178993, LOC108228201, LOC108281143, LOC108449898, LOC108660405, LOC109113859, LOC109113860, LOC109113862, LOC110121107, LOC110121118, LOC110121171, LOC110121202, LOC110121271, LOC111188152, LOC111188153, LOC111188154, LOC111188156, LOC111365180, LOC111429606, LOC111500310, LOC111828524, LOC112267934, LOC112997558, LOC112997559, LOC112997560, LOC112997561, LOC112997562, LOC112997563, LOC112997564, LOC112997565, LOC112997566, LOC112997567, LOC112997568, LOC112997569, LOC112997570, LOC114004387, LOC114004388, LOC114004389, LOC114004390, LOC116158522, LOC116158523, LOC116158524, LOC116158525, LOC116158526, LOC119407423, LOC120285837, LOC121079960, LOC121079961, LOC121079962, LOC121099701, LOC121099702, LOC121099703, LOC121099704, LOC121099705, LOC121099706, LOC121099707, LOC121099708, LOC121099709, LOC121099710, LOC121725217, LOC121740630, LOC121740631, LOC123497966, LOC123497967, LOC123497968, LOC123497969, LOC123497970, LOC123497971, LOC123497972, LOC123497973, LOC123497974, LOC123497975, LOC123497976, LOC123497977, LOC123497978, LOC123522801, LOC123522802, LOC123522803, LOC123522804, LOC123522805, LOC123522806, LOC123566730, LOC123566731, LOC123566732, LOC123566733, LOC123566734, LOC123575580, LOC123575581, LOC123575582, LOC123575583, LOC123575584, LOC123575585, LOC123575586, LOC123575587, LOC123575588, LOC123575589, LOC123575590, LOC123575592, LOC123575593, LOC123575594, LOC123575595, LOC123575596, LOC123575597, LOC123575598, LOC123575599, LOC123575600, LOC123575601, LOC123575602, LOC123575603, LOC123575604, LOC123575605, LOC126807505, LOC126807506, LOC126807507, LOC126807508, LOC126807509, LOC126807510, LOC126807511, LOC126807512, LOC126807513, LOC126807514, LOC126807515, LOC126807516, LOC126807517, LOC126807518, LOC126807519, LOC126807520, LOC126807521, LOC126807522, LOC126807523, LOC126807524, LOC126807525, LOC126807526, LOC126807527, LOC126807528, LOC126807529, LOC126807530, LOC126807531, LOC126807532, LOC126807533, LOC126807534, LOC126807535, LOC126807536, LOC126807537, LOC126807538, LOC126807539, LOC126807540, LOC126807541, LOC126807542, LOC126807543, LOC126807544, LOC126807545, LOC126807546, LOC126807547, LOC126807548, LOC126807549, LOC126807550, LOC126807551, LOC126807552, LOC126807553, LOC126807554, LOC126807555, LOC126807556, LOC126807557, LOC126807558, LOC126807559, LOC126807560, LOC126807561, LOC126807562, LOC126807563, LOC127814297, LOC128772274, LRRTM2, LYRM7, MACROH2A1, MALINC1, MARCOL, MATR3, MEIKIN, MFAP3, MIR1289-2, MIR1294, MIR1303, MIR143, MIR145, MIR3141, MIR3655, MIR3661, MIR378A, MIR378H, MIR3936, MIR3936HG, MIR5197, MIR5692C1, MIR584, MIR6499, MIR6830, MIR6831, MIR874, MRPL22, MYOT, MYOZ3, MYOZ3-AS1, MZB1, NDFIP1, NDST1, NDST1-AS1, NDUFA2, NEUROG1, NME5, NMUR2, NR3C1, NRG2, P4HA2, P4HA2-AS1, PAIP2, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHACT, PCDHB1, PCDHB1-AS1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHG@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCYOX1L, PDE6A, PDGFRB, PDLIM4, PFDN1, PITX1, PITX1-AS1, PKD2L2, PKD2L2-DT, PLAC8L1, POU4F3, PPARGC1B, PPP2CA, PPP2R2B, PPP2R2B-IT1, PRELID2, PROB1, PSD2, PSD2-AS1, PURA, RAD50, RAPGEF6, RBM22, RBM27, REEP2, RELL2, RNF14, RPS14, SAP30L, SAP30L-AS1, SAR1B, SCGB3A2, SEC24A, SEPTIN8, SH3RF2, SH3TC2, SH3TC2-DT, SHROOM1, SIL1, SKP1, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A48, SLC25A48-AS1, SLC26A2, SLC35A4, SLC36A1, SLC36A2, SLC36A3, SLC4A9, SLC6A7, SMAD5, SMAD5-AS1, SMIM3, SMIM32, SMIM33, SNHG4, SNORA74A, SNORA74D, SNORD63, SNORD63B, SOWAHA, SPARC, SPATA24, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPOCK1, SPRY4, SPRY4-AS1, SPRY4-IT1, SRA1, STING1, STK32A, STK32A-AS1, SYNPO, TAF7, TCERG1, TCF7, TCOF1, TGFBI, TH2-LCR, TH2LCRR, TIFAB, TIGD6, TMCO6, TNIP1, TRPC7, TRPC7-AS1, TRPC7-AS2, TXNDC15, UBE2B, UBE2D2, UQCRQ, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR55, WNT8A, WSPAR, YIPF5, ZCCHC10, ZMAT2, ZNF300
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr5:149094155-180699152
GRCh38:
Chr5:149714592-181272151
ADAM19, ADAMTS2, ADRA1B, ANXA6, ARL10, ARSI, ATOX1, ATOX1-AS1, ATP10B, ATP6V0E1, B4GALT7, BNIP1, BOD1, BTNL3, BTNL8, BTNL9, C1QTNF2, C5orf47, C5orf52, C5orf58, C5orf60, CAMK2A, CANX, CBY3, CCDC69, CCNG1, CCNJL, CD74, CDHR2, CDX1, CLINT1, CLK4, CLMAT3, CLTB, CNOT6, CNOT8, COL23A1, CPEB4, CPLX2, CREBRF, CSF1R, CTC-338M12.4, CYFIP2, DBN1, DCTN4, DDX41, DOCK2, DOK3, DRD1, DUSP1, EBF1, EFCAB9, EIF4E1B, ERGIC1, F12, FABP6, FABP6-AS1, FAF2, FAM114A2, FAM153A, FAM153B, FAM193B, FAM200C, FAT2, FAXDC2, FBLL1, FBXW11, FGF18, FGFR4, FLT4, FNDC9, FOXI1, G3BP1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GALNT10, GARIN3, GEMIN5, GFPT2, GLRA1, GM2A, GMCL2, GPRIN1, GPX3, GRIA1, GRK6, GRM6, HAND1, HAVCR1, HAVCR2, HEIH, HIGD2A, HK3, HMGXB3, HMMR, HMMR-AS1, HNRNPAB, HNRNPH1, HRH2, IL12B, INSYN2B, IRGM, ITK, KCNIP1, KCNIP1-AS1, KCNIP1-OT1, KCNMB1, KIAA1191, KIF4B, LARP1, LCP2, LINC00847, LINC01187, LINC01202, LINC01366, LINC01411, LINC01470, LINC01484, LINC01485, LINC01574, LINC01845, LINC01847, LINC01861, LINC01932, LINC01933, LINC01938, LINC01942, LINC01944, LINC01947, LINC01951, LINC01962, LINC02143, LINC02159, LINC02202, LINC02222, LINC02227, LINC02995, LINC03000, LMAN2, LOC100128059, LOC100128340, LOC100288254, LOC100289470, LOC100502572, LOC100652758, LOC100996385, LOC101927908, LOC101928093, LOC102546299, LOC102724551, LOC105377730, LOC105377753, LOC105377763, LOC105378230, LOC105980006, LOC105980008, LOC108004526, LOC108228201, LOC109279841, LOC110120620, LOC110120643, LOC110120714, LOC110120747, LOC110120777, LOC110120965, LOC110120995, LOC110120998, LOC110121000, LOC110121027, LOC110121041, LOC110121211, LOC110121241, LOC110121272, LOC110121284, LOC111188152, LOC111188153, LOC111188154, LOC111188156, LOC111429606, LOC111500319, LOC111556140, LOC111828524, LOC112997568, LOC112997569, LOC112997570, LOC112997571, LOC112997572, LOC112997574, LOC112997575, LOC112997576, LOC112997577, LOC112997578, LOC112997579, LOC112997580, LOC112997581, LOC112997582, LOC112997583, LOC112997584, LOC114004391, LOC116158526, LOC116158527, LOC116158528, LOC116158530, LOC116158531, LOC116158532, LOC116158533, LOC116158534, LOC116158535, LOC116158536, LOC121099710, LOC121099711, LOC121099712, LOC121099713, LOC121099714, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740630, LOC121740631, LOC121740632, LOC121740633, LOC121740634, LOC121740635, LOC123575590, LOC123575592, LOC123575593, LOC123575594, LOC123575595, LOC123575596, LOC123575597, LOC123575598, LOC123575599, LOC123575600, LOC123575601, LOC123575602, LOC123575603, LOC123575604, LOC123575605, LOC123575606, LOC123575607, LOC123575608, LOC123575609, LOC123575610, LOC123575611, LOC123575612, LOC123575614, LOC123575615, LOC123575616, LOC123575617, LOC123575618, LOC123575619, LOC123575620, LOC123575621, LOC123575622, LOC123575623, LOC123575624, LOC123575625, LOC123575626, LOC123575627, LOC123575628, LOC123575629, LOC123575630, LOC123575631, LOC123575632, LOC123575633, LOC123575634, LOC123575635, LOC123575636, LOC123575637, LOC123575638, LOC123575639, LOC123575640, LOC123575641, LOC126807551, LOC126807552, LOC126807553, LOC126807554, LOC126807555, LOC126807556, LOC126807557, LOC126807558, LOC126807559, LOC126807560, LOC126807561, LOC126807562, LOC126807563, LOC126807564, LOC126807565, LOC126807566, LOC126807567, LOC126807568, LOC126807569, LOC126807570, LOC126807571, LOC126807572, LOC126807573, LOC126807574, LOC126807575, LOC126807576, LOC126807577, LOC126807578, LOC126807579, LOC126807580, LOC126807581, LOC126807582, LOC126807583, LOC126807584, LOC126807585, LOC126807586, LOC126807587, LOC126807588, LOC126807589, LOC126807590, LOC126807591, LOC126807592, LOC126807593, LOC126807594, LOC126807595, LOC126807596, LOC126807597, LOC126807598, LOC126807599, LOC126807600, LOC126807601, LOC126807602, LOC126807603, LOC126807604, LOC126807605, LOC126807606, LOC126807607, LOC126807608, LOC126807609, LOC126807610, LOC126807611, LOC126807612, LOC126807613, LOC126807614, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, LOC126807622, LOC126807623, LOC126807624, LOC126807625, LOC126807626, LOC126807627, LOC126807628, LOC126807629, LOC126807630, LOC126807631, LOC126807632, LOC126807633, LOC128772274, LOC285626, LSM11, LTC4S, MAML1, MAPK9, MAT2B, MED7, MFAP3, MGAT1, MGAT4B, MIR103A1, MIR103B1, MIR10523, MIR12118, MIR12125, MIR1229, MIR1271, MIR1294, MIR1303, MIR146A, MIR218-2, MIR3141, MIR3142, MIR3142HG, MIR340, MIR378A, MIR378E, MIR378H, MIR3912, MIR4281, MIR4634, MIR4638, MIR5003, MIR585, MIR6499, MIR8056, MIR8089, MRNIP, MRNIP-DT, MRPL22, MSANTD5, MSX2, MXD3, MYOZ3, MYOZ3-AS1, N4BP3, NDST1, NDST1-AS1, NEURL1B, NHP2, NIPAL4, NIPAL4-DT, NKX2-5, NMUR2, NOP16, NPM1, PANK3, NSD1, NSG2, NUDCD2, OR2V1, OR2V2, OR2Y1, PDE6A, PDGFRB, PDLIM7, PFN3, PHYKPL, PPARGC1B, PPP1R2B, PRELID1, PROP1, PRR7, PRR7-AS1, PTTG1, PWWP2A, RAB24, RACK1, RANBP17, RARS1, RASGEF1C, RBM22, RGS14, RMND5B, RNF130, RNF145, RNF44, RPL26L1, RPL26L1-AS1, RPS14, RUFY1, RUFY1-AS1, SAP30L, SAP30L-AS1, SCGB3A1, SFXN1, SGCD, SH3PXD2B, SIMC1, SLC26A2, SLC34A1, SLC36A1, SLC36A2, SLC36A3, SLC6A7, SLIT3, SLIT3-AS1, SLIT3-AS2, SLU7, SMIM23, SMIM3, SNCB, SNORA70J, SNORA74B, SNORD95, SNORD96A, SOX30, SPARC, SPDL1, SQSTM1, STC2, STK10, SYNPO, TBC1D9B, TCOF1, TENM2, TENM2-AS1, THG1L, THOC3, THOC3-AS1, TIGD6, TIMD4, TRIM52-AS1, TLX3, TMED9, TNIP1, TRA-TGC3-1, TRIM41, TRIM52, TRIM7, TRIM7-AS2, TRK-CTT2-2, TRK-CTT2-3, TRL-AAG1-1, TRL-AAG1-2, TRL-AAG1-3, TRL-AAG2-1, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-2, TRV-AAC1-3, TRV-AAC1-4, TRV-AAC2-1, TRV-CAC1-2, TRV-CAC1-3, TRV-CAC1-4, TRV-CAC1-5, TSPAN17, TTC1, UBLCP1, UBTD2, UIMC1, UNC5A, WWC1, ZFP2, ZFP62, ZNF300, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr5:149736018-150067895
GRCh38:
Chr5:150356455-150688333
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
6.
GRCh37:
Chr5:149736964
GRCh38:
Chr5:150357401
TCOF1not providedBenign
(Dec 12, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr5:149737221
GRCh38:
Chr5:150357658
TCOF1not providedBenign
(Oct 16, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr5:149737251
GRCh38:
Chr5:150357688
TCOF1Treacher Collins syndrome 1Likely benignno assertion criteria provided
9.
GRCh37:
Chr5:149737291
GRCh38:
Chr5:150357728
TCOF1Treacher Collins Syndrome, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr5:149737334
GRCh38:
Chr5:150357771
TCOF1E9*Treacher Collins syndrome 1Pathogenic
(Jul 16, 2019)
criteria provided, single submitter
11.
GRCh37:
Chr5:149737350
GRCh38:
Chr5:150357787
TCOF1I14STreacher Collins syndrome 1Uncertain significance
(Feb 23, 2023)
criteria provided, single submitter
12.
GRCh37:
Chr5:149737351
GRCh38:
Chr5:150357788
TCOF1I14MTreacher Collins syndrome 1, not providedUncertain significance
(Oct 23, 2019)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr5:149737359
GRCh38:
Chr5:150357796
TCOF1H17Rnot provided, Treacher Collins syndrome 1Pathogenic/Likely pathogenic
(Aug 30, 2021)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr5:149737362
GRCh38:
Chr5:150357799
TCOF1L18Pnot providedUncertain significance
(Oct 5, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr5:149737385
GRCh38:
Chr5:150357822
TCOF1A26Tnot providedUncertain significance
(Dec 24, 2019)
criteria provided, single submitter
16.
GRCh37:
Chr5:149737394
GRCh38:
Chr5:150357831
TCOF1E29QTreacher Collins syndrome 1Uncertain significance
(Feb 2, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr5:149737398
GRCh38:
Chr5:150357835
TCOF1V30GTreacher Collins syndrome 1Likely pathogenic
(Aug 31, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr5:149737428
GRCh38:
Chr5:150357865
TCOF1Treacher Collins syndrome 1Likely benign
(Apr 20, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr5:149737469-149737475
GRCh38:
Chr5:150357906-150357912
TCOF1Treacher Collins syndrome 1Likely benignno assertion criteria provided
20.
GRCh37:
Chr5:149740691
GRCh38:
Chr5:150361128
TCOF1Treacher Collins syndrome 1Likely benignno assertion criteria provided
21.
GRCh37:
Chr5:149740706
GRCh38:
Chr5:150361143
TCOF1Treacher Collins syndrome 1, not providedBenign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr5:149740716
GRCh38:
Chr5:150361153
TCOF1Treacher Collins syndrome 1Likely pathogenic
(Oct 23, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr5:149740718
GRCh38:
Chr5:150361155
TCOF1Treacher Collins syndrome 1Pathogenic
(Jul 13, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr5:149740727
GRCh38:
Chr5:150361164
TCOF1F39LTreacher Collins syndrome 1Uncertain significance
(Aug 26, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr5:149740732
GRCh38:
Chr5:150361169
TCOF1A41Vnot specified, not provided, Treacher Collins syndrome 1
Benign
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr5:149740739
GRCh38:
Chr5:150361176
TCOF1Treacher Collins syndrome 1Likely benign
(May 18, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr5:149740744
GRCh38:
Chr5:150361181
TCOF1T45ITreacher Collins syndrome 1Uncertain significance
(Jul 13, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr5:149740751
GRCh38:
Chr5:150361188
TCOF1D48fsTreacher Collins syndrome 1Likely pathogenic
(Feb 23, 2023)
criteria provided, single submitter
29.
GRCh37:
Chr5:149740759
GRCh38:
Chr5:150361196
TCOF1Y50CTreacher Collins syndrome 1Pathogenic
(Jul 1, 2002)
no assertion criteria provided
30.
GRCh37:
Chr5:149740768
GRCh38:
Chr5:150361205
TCOF1W53*Treacher Collins syndrome 1Likely pathogenic
(Jul 1, 2023)
criteria provided, single submitter
31.
GRCh37:
Chr5:149740771
GRCh38:
Chr5:150361208
TCOF1Q54PTreacher Collins syndrome 1Uncertain significance
(Oct 11, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr5:149740772
GRCh38:
Chr5:150361209
TCOF1not specified, not provided, Treacher Collins syndrome 1
Benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr5:149740773
GRCh38:
Chr5:150361210
TCOF1Q55*Treacher Collins syndrome 1Pathogenic
(Oct 14, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr5:149740791
GRCh38:
Chr5:150361228
TCOF1Treacher Collins syndrome 1Likely benign
(Aug 31, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr5:149740980
GRCh38:
Chr5:150361417
TCOF1not providedLikely benign
(Dec 31, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr5:149743486
GRCh38:
Chr5:150363923
TCOF1not providedLikely benign
(Apr 3, 2019)
criteria provided, single submitter
37.
GRCh37:
Chr5:149743561
GRCh38:
Chr5:150363998
TCOF1not providedLikely benign
(Jan 28, 2019)
criteria provided, single submitter
38.
GRCh37:
Chr5:149743692
GRCh38:
Chr5:150364129
TCOF1R61WTreacher Collins syndrome 1Uncertain significance
(Aug 22, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr5:149743698
GRCh38:
Chr5:150364135
TCOF1R63WTreacher Collins syndrome 1Uncertain significance
(May 12, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr5:149743699
GRCh38:
Chr5:150364136
TCOF1R63Qnot providedLikely benignno assertion criteria provided
41.
GRCh37:
Chr5:149743717
GRCh38:
Chr5:150364154
TCOF1A69VInborn genetic diseasesUncertain significance
(May 3, 2023)
criteria provided, single submitter
42.
GRCh37:
Chr5:149743727
GRCh38:
Chr5:150364164
TCOF1Treacher Collins syndrome 1Likely benign
(Jan 4, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr5:149743740
GRCh38:
Chr5:150364177
TCOF1R77CTreacher Collins syndrome 1Uncertain significance
(Dec 20, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr5:149743741
GRCh38:
Chr5:150364178
TCOF1R77Hnot provided, Treacher Collins syndrome 1Uncertain significance
(Feb 17, 2023)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr5:149743763
GRCh38:
Chr5:150364200
TCOF1not providedUncertain significance
(Sep 18, 2019)
criteria provided, single submitter
46.
GRCh37:
Chr5:149743775
GRCh38:
Chr5:150364212
TCOF1Treacher Collins syndrome 1Likely benign
(May 3, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr5:149743781
GRCh38:
Chr5:150364218
TCOF1not providedLikely benign
(May 14, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr5:149743799
GRCh38:
Chr5:150364236
TCOF1Treacher Collins syndrome 1Likely benign
(Jul 26, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr5:149743800
GRCh38:
Chr5:150364237
TCOF1E97KTreacher Collins syndrome 1, Inborn genetic diseasesUncertain significance
(Nov 10, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr5:149743804
GRCh38:
Chr5:150364241
TCOF1T98ITreacher Collins syndrome 1Uncertain significance
(Apr 17, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr5:149743805
GRCh38:
Chr5:150364242
TCOF1Treacher Collins syndrome 1Likely benign
(Apr 11, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr5:149743806
GRCh38:
Chr5:150364243
TCOF1A99Tnot specified, not provided, Treacher Collins syndrome 1
Benign/Likely benign
(Jan 1, 2023)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr5:149743816
GRCh38:
Chr5:150364253
TCOF1Treacher Collins syndrome 1Pathogenic
(Jan 17, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr5:149743820
GRCh38:
Chr5:150364257
TCOF1Treacher Collins syndrome 1Pathogenic
(Feb 2, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr5:149743976
GRCh38:
Chr5:150364413
TCOF1not providedBenign
(Oct 16, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr5:149744017
GRCh38:
Chr5:150364454
TCOF1not providedBenign
(Dec 12, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr5:149745052-149761303
GRCh38:
Chr5:150365489-150381740
TCOF1See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
58.
GRCh37:
Chr5:149747116
GRCh38:
Chr5:150367553
TCOF1not providedLikely benign
(Dec 17, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr5:149747151
GRCh38:
Chr5:150367588
TCOF1not providedLikely benign
(Apr 24, 2019)
criteria provided, single submitter
60.
GRCh37:
Chr5:149747153
GRCh38:
Chr5:150367590
TCOF1not providedLikely benign
(Apr 4, 2019)
criteria provided, single submitter
61.
GRCh37:
Chr5:149747355
GRCh38:
Chr5:150367792
TCOF1not providedLikely benign
(Jan 13, 2019)
criteria provided, single submitter
62.
GRCh37:
Chr5:149747371
GRCh38:
Chr5:150367808
TCOF1not providedLikely benign
(Apr 4, 2019)
criteria provided, single submitter
63.
GRCh37:
Chr5:149747391-149747392
GRCh38:
Chr5:150367828-150367829
TCOF1Treacher Collins syndrome 1Likely benign
(Mar 4, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr5:149747403
GRCh38:
Chr5:150367840
TCOF1Treacher Collins syndrome 1Likely benign
(May 11, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr5:149747411
GRCh38:
Chr5:150367848
TCOF1Treacher Collins syndrome 1Likely benign
(Jun 15, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr5:149747425
GRCh38:
Chr5:150367862
TCOF1T108Inot providedUncertain significance
(Nov 15, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr5:149747427
GRCh38:
Chr5:150367864
TCOF1N109DHearing impairmentUncertain significance
(Apr 12, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr5:149747428
GRCh38:
Chr5:150367865
TCOF1N109Snot provided, Treacher Collins syndrome 1Conflicting interpretations of pathogenicity
(Jun 22, 2022)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr5:149747439
GRCh38:
Chr5:150367876
TCOF1L113Mnot providedLikely benign
(Apr 6, 2020)
criteria provided, single submitter
70.
GRCh37:
Chr5:149747447
GRCh38:
Chr5:150367884
TCOF1Treacher Collins syndrome 1Likely benign
(Jul 12, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr5:149747448
GRCh38:
Chr5:150367885
TCOF1D116NInborn genetic diseasesUncertain significance
(Jan 31, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr5:149747475-149747492
GRCh38:
Chr5:150367912-150367929
TCOF1Treacher Collins syndrome 1Pathogenic
(Dec 1, 2003)
no assertion criteria provided
73.
GRCh37:
Chr5:149747481
GRCh38:
Chr5:150367918
TCOF1Treacher Collins syndrome 1Likely pathogenic
(Nov 5, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr5:149747483
GRCh38:
Chr5:150367920
TCOF1Treacher Collins syndrome 1Uncertain significance
(Jul 7, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr5:149747496
GRCh38:
Chr5:150367933
TCOF1Treacher Collins syndrome 1Benign
(Oct 30, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr5:149747519
GRCh38:
Chr5:150367956
TCOF1not providedLikely benign
(Jun 10, 2019)
criteria provided, single submitter
77.
GRCh37:
Chr5:149747553
GRCh38:
Chr5:150367990
TCOF1not providedLikely benign
(Mar 18, 2019)
criteria provided, single submitter
78.
GRCh37:
Chr5:149747554
GRCh38:
Chr5:150367991
TCOF1not providedLikely benign
(Mar 18, 2019)
criteria provided, single submitter
79.
GRCh37:
Chr5:149747728
GRCh38:
Chr5:150368165
TCOF1not providedLikely benign
(Jan 30, 2019)
criteria provided, single submitter
80.
GRCh37:
Chr5:149747884-149776406
GRCh38:
Chr5:150368321-150396843
TCOF1See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
81.
GRCh37:
Chr5:149748095
GRCh38:
Chr5:150368532
TCOF1not providedLikely benign
(Jan 25, 2019)
criteria provided, single submitter
82.
GRCh37:
Chr5:149748100
GRCh38:
Chr5:150368537
TCOF1not providedLikely benign
(Feb 9, 2019)
criteria provided, single submitter
83.
GRCh37:
Chr5:149748281-149748282
GRCh38:
Chr5:150368718-150368719
TCOF1E128fsnot providedPathogenic
(May 11, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr5:149748285-149748286
GRCh38:
Chr5:150368722-150368723
TCOF1T129fsTreacher Collins syndrome 1Pathogenic
(Jul 26, 2015)
criteria provided, single submitter
85.
GRCh37:
Chr5:149748287-149748288
GRCh38:
Chr5:150368724-150368725
TCOF1K131fsTreacher Collins syndrome 1Pathogenic
(Jun 22, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr5:149748321-149748322
GRCh38:
Chr5:150368758-150368759
TCOF1H141fsTreacher Collins syndrome 1Pathogenic
(Apr 1, 1997)
no assertion criteria provided
87.
GRCh37:
Chr5:149748344
GRCh38:
Chr5:150368781
TCOF1Treacher Collins syndrome 1Likely benign
(Jul 11, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr5:149748345
GRCh38:
Chr5:150368782
TCOF1A149TInborn genetic diseasesLikely benign
(Sep 17, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr5:149748349
GRCh38:
Chr5:150368786
TCOF1N150SInborn genetic diseases, Treacher Collins syndrome 1Uncertain significance
(Jul 6, 2021)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr5:149748357
GRCh38:
Chr5:150368794
TCOF1S153PTreacher Collins syndrome 1Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr5:149748360
GRCh38:
Chr5:150368797
TCOF1K155fsTreacher Collins syndrome 1Pathogenic
(Apr 9, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr5:149748381
GRCh38:
Chr5:150368818
TCOF1A161STreacher Collins syndrome 1Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr5:149748384
GRCh38:
Chr5:150368821
TCOF1E162Knot provided, Treacher Collins syndrome 1Likely benign
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr5:149748397-149748400
GRCh38:
Chr5:150368834-150368837
TCOF1N166fsTreacher Collins syndrome 1Pathogenic
(Apr 1, 1997)
no assertion criteria provided
95.
GRCh37:
Chr5:149748403
GRCh38:
Chr5:150368840
TCOF1T168MTreacher Collins syndrome 1, not provided, not specified
Benign/Likely benign
(Sep 4, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr5:149748420-149748422
GRCh38:
Chr5:150368857-150368859
TCOF1E176delTreacher Collins syndrome 1Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr5:149748420
GRCh38:
Chr5:150368857
TCOF1E174*Treacher Collins syndrome 1Pathogenic
(May 3, 2019)
criteria provided, single submitter
98.
GRCh37:
Chr5:149748423
GRCh38:
Chr5:150368860
TCOF1E175*Treacher Collins syndrome 1Pathogenic
(Apr 2, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr5:149748425
GRCh38:
Chr5:150368862
TCOF1Treacher Collins syndrome 1Likely benign
(Nov 1, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr5:149748431
GRCh38:
Chr5:150368868
TCOF1not providedLikely benign
(Feb 12, 2021)
criteria provided, single submitter
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