| - GRCh37:
- Chr5:105955289-155551397
- GRCh38:
- Chr5:106619588-156124387
| 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, 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, 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, MIR4461, 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, ABLIM3, ACSL6 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:129183487-152733106
- GRCh38:
- Chr5:129847794-153353546
| 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, CHSY3, CLMAT3, CSF1R, CSF2, CSNK1A1, 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, MIR4461, 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 | | See cases | Pathogenic (Sep 21, 2012) | no assertion criteria provided |
| - 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, 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, MIR4461, 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:140469572-148910241
- GRCh38:
- Chr5:141089988-149530678
| ABLIM3, ADRB2, AFAP1L1, ARAP3, ARHGAP26, ARHGAP26-AS1, ARHGAP26-IT1, C5orf46, CARMN, CSNK1A1, DELE1, DIAPH1, DIAPH1-AS1, DPYSL3, FBXO38, FBXO38-DT, FCHSD1, FGF1, GNPDA1, GPR151, GRPEL2, GRPEL2-AS1, GRXCR2, HDAC3, HMHB1, HTR4, IL17B, JAKMIP2, JAKMIP2-AS1, KCTD16, LARS1, LINC01844, LOC108178993, LOC108660405, LOC109113859, LOC109113860, LOC109113862, LOC110121171, LOC110121202, LOC111365180, LOC112997563, LOC112997564, LOC112997565, LOC112997566, LOC114004388, LOC114004389, LOC114004390, LOC116158524, LOC116158525, LOC121099705, LOC121099706, LOC121099707, LOC121099708, LOC121099709, LOC121725217, LOC123566731, LOC123566732, LOC123566733, LOC123566734, LOC123575580, LOC123575581, LOC123575582, LOC123575583, LOC123575584, LOC123575585, LOC123575586, LOC123575587, LOC123575588, LOC123575589, LOC126807531, LOC126807532, LOC126807533, LOC126807534, LOC126807535, LOC126807536, LOC126807537, LOC126807538, LOC126807539, LOC126807540, LOC126807541, LOC126807542, LOC126807543, LOC126807544, LOC126807545, LOC126807546, LOC126807547, LOC126807548, LOC127814297, MARCOL, MIR143, MIR145, MIR5197, MIR584, NDFIP1, NR3C1, PCDH1, PCDH12, 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, PLAC8L1, POU4F3, PPP2R2B, PPP2R2B-IT1, PRELID2, RBM27, RELL2, RNF14, SCGB3A2, SH3RF2, SH3TC2, SH3TC2-DT, SLC25A2, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPRY4, SPRY4-AS1, SPRY4-IT1, STK32A, STK32A-AS1, TAF7, TCERG1, YIPF5 | | See cases | Pathogenic (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:144576918-147921074
- GRCh38:
- Chr5:145197355-148541511
| C5orf46, DPYSL3, FBXO38, FBXO38-DT, GPR151, GRXCR2, HTR4, JAKMIP2, JAKMIP2-AS1, LARS1, LOC108178993, LOC108660405, LOC112997566, LOC116158525, LOC123575583, LOC123575584, LOC123575585, LOC123575586, LOC123575587, LOC126807539, LOC126807540, LOC126807541, LOC126807542, LOC126807543, LOC126807544, LOC127814297, MARCOL, PLAC8L1, POU4F3, PPP2R2B, PPP2R2B-IT1, PRELID2, RBM27, SCGB3A2, SH3RF2, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, STK32A, STK32A-AS1, TCERG1 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr5:145718290
- GRCh38:
- Chr5:146338727
| LOC127814297, POU4F3 | | not provided | Benign (Dec 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145718418
- GRCh38:
- Chr5:146338855
| LOC127814297, POU4F3 | | not provided | Likely benign (Dec 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145718597
- GRCh38:
- Chr5:146339034
| LOC127814297, POU4F3 | | Autosomal dominant nonsyndromic hearing loss 15 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145718632
- GRCh38:
- Chr5:146339069
| LOC127814297, POU4F3 | | Autosomal dominant nonsyndromic hearing loss 15 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145718699
- GRCh38:
- Chr5:146339136
| LOC127814297, POU4F3 | | Autosomal dominant nonsyndromic hearing loss 15 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145718701
- GRCh38:
- Chr5:146339138
| LOC127814297, POU4F3 | P9L | Inborn genetic diseases | Uncertain significance (Feb 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145718710
- GRCh38:
- Chr5:146339147
| LOC127814297, POU4F3 | M12T | not provided | Uncertain significance (Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145718712
- GRCh38:
- Chr5:146339149
| LOC127814297, POU4F3 | H13fs | Autosomal dominant nonsyndromic hearing loss 15 | Pathogenic (Jul 28, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr5:145718728
- GRCh38:
- Chr5:146339165
| LOC127814297, POU4F3 | E18fs | Autosomal dominant nonsyndromic hearing loss 15 | Pathogenic (Aug 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145718729
- GRCh38:
- Chr5:146339166
| POU4F3, LOC127814297 | E18D, T963P | Inborn genetic diseases | Uncertain significance (May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145718740
- GRCh38:
- Chr5:146339177
| LOC127814297, POU4F3 | S23fs | Autosomal dominant nonsyndromic hearing loss 15 | Pathogenic (May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145718745
- GRCh38:
- Chr5:146339182
| LOC127814297, POU4F3 | S968F | not provided | Likely benign (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145718746
- GRCh38:
- Chr5:146339183
| LOC127814297, POU4F3 | L24R | not provided | Uncertain significance (Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145718765
- GRCh38:
- Chr5:146339202
| LOC127814297, POU4F3 | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 15
| Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:145718771
- GRCh38:
- Chr5:146339208
| LOC127814297, POU4F3 | | not specified | Likely benign (Feb 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145718773
- GRCh38:
- Chr5:146339210
| LOC127814297, POU4F3 | R33Q | not provided | Uncertain significance (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:145718778
- GRCh38:
- Chr5:146339215
| LOC127814297, POU4F3 | C35R | not specified, not provided | Uncertain significance (Dec 28, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:145718788
- GRCh38:
- Chr5:146339225
| LOC127814297, POU4F3 | A38D | Autosomal dominant nonsyndromic hearing loss 15 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145718793
- GRCh38:
- Chr5:146339230
| LOC127814297, POU4F3 | Q40* | not provided | Likely pathogenic (Apr 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145718803
- GRCh38:
- Chr5:146339240
| LOC127814297, POU4F3 | | not provided, not specified | Benign/Likely benign (Apr 16, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:145719151
- GRCh38:
- Chr5:146339588
| LOC127814297, POU4F3 | L54Q | Inborn genetic diseases | Uncertain significance (May 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719160
- GRCh38:
- Chr5:146339597
| LOC127814297, POU4F3 | A57G | not provided | Uncertain significance (Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719161
- GRCh38:
- Chr5:146339598
| LOC127814297, POU4F3 | | not provided | Likely benign (Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719161
- GRCh38:
- Chr5:146339598
| LOC127814297, POU4F3 | | Autosomal dominant nonsyndromic hearing loss 15, not provided | Conflicting interpretations of pathogenicity (Apr 18, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:145719172
- GRCh38:
- Chr5:146339609
| LOC127814297, POU4F3 | A61E | Autosomal dominant nonsyndromic hearing loss 15 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719173
- GRCh38:
- Chr5:146339610
| LOC127814297, POU4F3 | A62fs | Autosomal dominant nonsyndromic hearing loss 15 | Pathogenic (Mar 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719174
- GRCh38:
- Chr5:146339611
| LOC127814297, POU4F3 | A62S | not provided | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719182
- GRCh38:
- Chr5:146339619
| POU4F3, LOC127814297 | | not provided, not specified | Likely benign (Oct 29, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:145719185
- GRCh38:
- Chr5:146339622
| LOC127814297, POU4F3 | | not provided | Benign/Likely benign (May 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:145719197
- GRCh38:
- Chr5:146339634
| LOC127814297, POU4F3 | | not provided | Uncertain significance (Apr 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719204
- GRCh38:
- Chr5:146339641
| LOC127814297, POU4F3 | H72D | Hearing impairment, Inborn genetic diseases, not provided, Autosomal dominant nonsyndromic hearing loss 15 | Conflicting interpretations of pathogenicity (Jul 17, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:145719218
- GRCh38:
- Chr5:146339655
| LOC127814297, POU4F3 | | not provided | Conflicting interpretations of pathogenicity (Nov 26, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:145719220
- GRCh38:
- Chr5:146339657
| LOC127814297, POU4F3 | D77G | not provided, not specified | Conflicting interpretations of pathogenicity (Mar 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:145719236-145719635
- GRCh38:
- Chr5:146339673-146340072
| LOC127814297, POU4F3 | M83fs | not provided | Pathogenic (Nov 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719246
- GRCh38:
- Chr5:146339683
| LOC127814297, POU4F3 | V86L | not specified | Uncertain significance (Feb 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719285
- GRCh38:
- Chr5:146339722
| LOC127814297, POU4F3 | H99Y | not specified, Autosomal dominant nonsyndromic hearing loss 15, not provided
| Conflicting interpretations of pathogenicity (Sep 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:145719287
- GRCh38:
- Chr5:146339724
| LOC127814297, POU4F3 | | not provided | Benign (Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:145719288
- GRCh38:
- Chr5:146339725
| LOC127814297, POU4F3 | P100A | not provided | Uncertain significance (Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719299
- GRCh38:
- Chr5:146339736
| LOC127814297, POU4F3 | | not provided, Autosomal dominant nonsyndromic hearing loss 15 | Conflicting interpretations of pathogenicity (Jun 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:145719315
- GRCh38:
- Chr5:146339752
| LOC127814297, POU4F3 | H109Y | Autosomal dominant nonsyndromic hearing loss 15 | Uncertain significance (Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:145719317
- GRCh38:
- Chr5:146339754
| LOC127814297, POU4F3 | H109Q | Autosomal dominant nonsyndromic hearing loss 15 | Uncertain significance (Feb 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719320
- GRCh38:
- Chr5:146339757
| LOC127814297, POU4F3 | | not provided | Benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719331
- GRCh38:
- Chr5:146339768
| LOC127814297, POU4F3 | G114D | Inborn genetic diseases | Uncertain significance (Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719347
- GRCh38:
- Chr5:146339784
| LOC127814297, POU4F3 | | not provided | Likely benign (Feb 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719363
- GRCh38:
- Chr5:146339800
| LOC127814297, POU4F3 | P125S | Autosomal dominant nonsyndromic hearing loss 15 | Uncertain significance (Oct 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719364
- GRCh38:
- Chr5:146339801
| LOC127814297, POU4F3 | P125L | Autosomal recessive sensorineural hearing loss, Hearing loss, autosomal recessive | Pathogenic/Likely pathogenic (Jul 5, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr5:145719368
- GRCh38:
- Chr5:146339805
| LOC127814297, POU4F3 | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 15
| Benign (Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:145719368
- GRCh38:
- Chr5:146339805
| LOC127814297, POU4F3 | | not specified | Likely benign (Dec 10, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719372-145719373
- GRCh38:
- Chr5:146339809-146339810
| LOC127814297, POU4F3 | S130fs | Rare genetic deafness | Likely pathogenic (Mar 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719393
- GRCh38:
- Chr5:146339830
| LOC127814297, POU4F3 | P135S | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 15
| Uncertain significance (Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:145719395
- GRCh38:
- Chr5:146339832
| LOC127814297, POU4F3 | | not provided, Autosomal dominant nonsyndromic hearing loss 15 | Conflicting interpretations of pathogenicity (Jul 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:145719396
- GRCh38:
- Chr5:146339833
| LOC127814297, POU4F3 | E136K | not provided, Inborn genetic diseases | Uncertain significance (Nov 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:145719396
- GRCh38:
- Chr5:146339833
| LOC127814297, POU4F3 | E136Q | not provided | Uncertain significance (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719411
- GRCh38:
- Chr5:146339848
| POU4F3, LOC127814297 | P141T | not specified, Inborn genetic diseases | Conflicting interpretations of pathogenicity (Dec 3, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:145719429
- GRCh38:
- Chr5:146339866
| LOC127814297, POU4F3 | H147Y | Inborn genetic diseases | Uncertain significance (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719431
- GRCh38:
- Chr5:146339868
| LOC127814297, POU4F3 | | not provided | Likely benign (Apr 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719432
- GRCh38:
- Chr5:146339869
| LOC127814297, POU4F3 | H148Y | not provided, Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 15
| Uncertain significance (Jan 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:145719452
- GRCh38:
- Chr5:146339889
| POU4F3, LOC127814297 | H154Q | not provided | Uncertain significance (Nov 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719467
- GRCh38:
- Chr5:146339904
| LOC127814297, POU4F3 | G160fs | Autosomal dominant nonsyndromic hearing loss 15 | Likely pathogenic (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719480
- GRCh38:
- Chr5:146339917
| LOC127814297, POU4F3 | P164S | not provided, not specified | Uncertain significance (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:145719481
- GRCh38:
- Chr5:146339918
| LOC127814297, POU4F3 | P164L | not provided, not specified | Uncertain significance (Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:145719489
- GRCh38:
- Chr5:146339926
| LOC127814297, POU4F3 | V167M | Autosomal dominant nonsyndromic hearing loss 15 | not provided | no assertion provided |
| - GRCh37:
- Chr5:145719491
- GRCh38:
- Chr5:146339928
| LOC127814297, POU4F3 | A168fs | not provided, Autosomal dominant nonsyndromic hearing loss 15 | Pathogenic/Likely pathogenic (May 4, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:145719498
- GRCh38:
- Chr5:146339935
| LOC127814297, POU4F3 | H170Y | Autosomal dominant nonsyndromic hearing loss 15 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719499
- GRCh38:
- Chr5:146339936
| POU4F3, LOC127814297 | H170R | not provided | Uncertain significance (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719503
- GRCh38:
- Chr5:146339940
| LOC127814297, POU4F3 | | not provided | Likely benign (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719503
- GRCh38:
- Chr5:146339940
| LOC127814297, POU4F3 | S171R | not specified, not provided, Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 15 | Uncertain significance (Mar 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:145719504
- GRCh38:
- Chr5:146339941
| LOC127814297, POU4F3 | A172S | Inborn genetic diseases | Uncertain significance (May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719507
- GRCh38:
- Chr5:146339944
| LOC127814297, POU4F3 | M173L | not provided | Uncertain significance (May 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719515
- GRCh38:
- Chr5:146339952
| LOC127814297, POU4F3 | | not provided | Likely benign (Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719516
- GRCh38:
- Chr5:146339953
| LOC127814297, POU4F3 | C176G | not provided | Conflicting interpretations of pathogenicity (Sep 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:145719527
- GRCh38:
- Chr5:146339964
| LOC127814297, POU4F3 | D179E | not provided | Uncertain significance (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719528
- GRCh38:
- Chr5:146339965
| LOC127814297, POU4F3 | V180L | not provided | Uncertain significance (Aug 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719531
- GRCh38:
- Chr5:146339968
| LOC127814297, POU4F3 | E181Q | Inborn genetic diseases | Uncertain significance (Jan 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719535
- GRCh38:
- Chr5:146339972
| LOC127814297, POU4F3 | S182* | Hearing impairment | Likely pathogenic (Apr 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719536
- GRCh38:
- Chr5:146339973
| LOC127814297, POU4F3 | | not provided | Likely benign (Jun 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719537
- GRCh38:
- Chr5:146339974
| LOC127814297, POU4F3 | D183H | not provided | Uncertain significance (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719543
- GRCh38:
- Chr5:146339980
| POU4F3, LOC127814297 | R185C | Autosomal dominant nonsyndromic hearing loss 15 | Uncertain significance (Aug 28, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:145719552-145719553
- GRCh38:
- Chr5:146339989-146339990
| POU4F3, LOC127814297 | A189fs | Autosomal dominant nonsyndromic hearing loss 15 | Pathogenic (May 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719554
- GRCh38:
- Chr5:146339991
| LOC127814297, POU4F3 | | not provided | Likely benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719566
- GRCh38:
- Chr5:146340003
| LOC127814297, POU4F3 | | not provided | Likely benign (Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719567
- GRCh38:
- Chr5:146340004
| LOC127814297, POU4F3 | R193C | Autosomal dominant nonsyndromic hearing loss 15 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719579
- GRCh38:
- Chr5:146340016
| LOC127814297, POU4F3 | | not provided | Likely benign (Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719580
- GRCh38:
- Chr5:146340017
| LOC127814297, POU4F3 | R197P | not provided | Uncertain significance (Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719581
- GRCh38:
- Chr5:146340018
| LOC127814297, POU4F3 | | Autosomal dominant nonsyndromic hearing loss 15 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719583
- GRCh38:
- Chr5:146340020
| LOC127814297, POU4F3 | R198H | not provided | Uncertain significance (Jun 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:145719592
- GRCh38:
- Chr5:146340029
| LOC127814297, POU4F3 | L201P | Autosomal dominant nonsyndromic hearing loss 15 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719594
- GRCh38:
- Chr5:146340031
| LOC127814297, POU4F3 | G202R | Autosomal dominant nonsyndromic hearing loss 15 | Uncertain significance (Jun 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:145719595
- GRCh38:
- Chr5:146340032
| LOC127814297, POU4F3 | G202A | Autosomal dominant nonsyndromic hearing loss 15 | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719612
- GRCh38:
- Chr5:146340049
| LOC127814297, POU4F3 | V208L | not provided | Uncertain significance (Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719614
- GRCh38:
- Chr5:146340051
| LOC127814297, POU4F3 | | not provided, Autosomal dominant nonsyndromic hearing loss 15 | Conflicting interpretations of pathogenicity (Feb 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:145719625
- GRCh38:
- Chr5:146340062
| LOC127814297, POU4F3 | L212P | Autosomal dominant nonsyndromic hearing loss 15 | Likely pathogenic (Mar 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719635
- GRCh38:
- Chr5:146340072
| LOC127814297, POU4F3 | | not provided | Likely benign (May 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719643
- GRCh38:
- Chr5:146340080
| LOC127814297, POU4F3 | P218R | Inborn genetic diseases | Uncertain significance (Mar 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145719652-145719665
- GRCh38:
- Chr5:146340089-146340102
| LOC127814297, POU4F3 | G221fs | Autosomal dominant nonsyndromic hearing loss 15 | Pathogenic (Jun 4, 2010) | no assertion criteria provided |