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Items: 1 to 100 of 160

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
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 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, 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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
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 casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
5.
GRCh37:
Chr5:144576918-147921074
GRCh38:
Chr5:145197355-148541511
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
6.
GRCh37:
Chr5:145718290
GRCh38:
Chr5:146338727
LOC127814297, POU4F3not providedBenign
(Dec 21, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr5:145718418
GRCh38:
Chr5:146338855
LOC127814297, POU4F3not providedLikely benign
(Dec 23, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr5:145718597
GRCh38:
Chr5:146339034
LOC127814297, POU4F3Autosomal dominant nonsyndromic hearing loss 15Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr5:145718632
GRCh38:
Chr5:146339069
LOC127814297, POU4F3Autosomal dominant nonsyndromic hearing loss 15Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr5:145718699
GRCh38:
Chr5:146339136
LOC127814297, POU4F3Autosomal dominant nonsyndromic hearing loss 15Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr5:145718701
GRCh38:
Chr5:146339138
LOC127814297, POU4F3P9LInborn genetic diseasesUncertain significance
(Feb 7, 2023)
criteria provided, single submitter
12.
GRCh37:
Chr5:145718710
GRCh38:
Chr5:146339147
LOC127814297, POU4F3M12Tnot providedUncertain significance
(Mar 2, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr5:145718712
GRCh38:
Chr5:146339149
LOC127814297, POU4F3H13fsAutosomal dominant nonsyndromic hearing loss 15Pathogenic
(Jul 28, 2022)
no assertion criteria provided
14.
GRCh37:
Chr5:145718728
GRCh38:
Chr5:146339165
LOC127814297, POU4F3E18fsAutosomal dominant nonsyndromic hearing loss 15Pathogenic
(Aug 1, 2020)
criteria provided, single submitter
15.
GRCh37:
Chr5:145718729
GRCh38:
Chr5:146339166
POU4F3, LOC127814297E18D, T963PInborn genetic diseasesUncertain significance
(May 31, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr5:145718740
GRCh38:
Chr5:146339177
LOC127814297, POU4F3S23fsAutosomal dominant nonsyndromic hearing loss 15Pathogenic
(May 22, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr5:145718745
GRCh38:
Chr5:146339182
LOC127814297, POU4F3S968Fnot providedLikely benign
(Apr 8, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr5:145718746
GRCh38:
Chr5:146339183
LOC127814297, POU4F3L24Rnot providedUncertain significance
(Dec 23, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr5:145718765
GRCh38:
Chr5:146339202
LOC127814297, POU4F3not specified, not provided, Autosomal dominant nonsyndromic hearing loss 15
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr5:145718771
GRCh38:
Chr5:146339208
LOC127814297, POU4F3not specifiedLikely benign
(Feb 14, 2019)
criteria provided, single submitter
21.
GRCh37:
Chr5:145718773
GRCh38:
Chr5:146339210
LOC127814297, POU4F3R33Qnot providedUncertain significance
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr5:145718778
GRCh38:
Chr5:146339215
LOC127814297, POU4F3C35Rnot specified, not providedUncertain significance
(Dec 28, 2018)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr5:145718788
GRCh38:
Chr5:146339225
LOC127814297, POU4F3A38DAutosomal dominant nonsyndromic hearing loss 15Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr5:145718793
GRCh38:
Chr5:146339230
LOC127814297, POU4F3Q40*not providedLikely pathogenic
(Apr 1, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr5:145718803
GRCh38:
Chr5:146339240
LOC127814297, POU4F3not provided, not specifiedBenign/Likely benign
(Apr 16, 2018)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr5:145719151
GRCh38:
Chr5:146339588
LOC127814297, POU4F3L54QInborn genetic diseasesUncertain significance
(May 23, 2023)
criteria provided, single submitter
27.
GRCh37:
Chr5:145719160
GRCh38:
Chr5:146339597
LOC127814297, POU4F3A57Gnot providedUncertain significance
(Mar 15, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr5:145719161
GRCh38:
Chr5:146339598
LOC127814297, POU4F3not providedLikely benign
(Oct 20, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr5:145719161
GRCh38:
Chr5:146339598
LOC127814297, POU4F3Autosomal dominant nonsyndromic hearing loss 15, not providedConflicting interpretations of pathogenicity
(Apr 18, 2018)
criteria provided, conflicting interpretations
30.
GRCh37:
Chr5:145719172
GRCh38:
Chr5:146339609
LOC127814297, POU4F3A61EAutosomal dominant nonsyndromic hearing loss 15Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr5:145719173
GRCh38:
Chr5:146339610
LOC127814297, POU4F3A62fsAutosomal dominant nonsyndromic hearing loss 15Pathogenic
(Mar 8, 2020)
criteria provided, single submitter
32.
GRCh37:
Chr5:145719174
GRCh38:
Chr5:146339611
LOC127814297, POU4F3A62Snot providedUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr5:145719182
GRCh38:
Chr5:146339619
POU4F3, LOC127814297not provided, not specifiedLikely benign
(Oct 29, 2020)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr5:145719185
GRCh38:
Chr5:146339622
LOC127814297, POU4F3not providedBenign/Likely benign
(May 8, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr5:145719197
GRCh38:
Chr5:146339634
LOC127814297, POU4F3not providedUncertain significance
(Apr 13, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr5:145719204
GRCh38:
Chr5:146339641
LOC127814297, POU4F3H72DHearing impairment, Inborn genetic diseases, not provided,
Autosomal dominant nonsyndromic hearing loss 15
Conflicting interpretations of pathogenicity
(Jul 17, 2023)
criteria provided, conflicting interpretations
37.
GRCh37:
Chr5:145719218
GRCh38:
Chr5:146339655
LOC127814297, POU4F3not providedConflicting interpretations of pathogenicity
(Nov 26, 2019)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr5:145719220
GRCh38:
Chr5:146339657
LOC127814297, POU4F3D77Gnot provided, not specifiedConflicting interpretations of pathogenicity
(Mar 31, 2022)
criteria provided, conflicting interpretations
39.
GRCh37:
Chr5:145719236-145719635
GRCh38:
Chr5:146339673-146340072
LOC127814297, POU4F3M83fsnot providedPathogenic
(Nov 28, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr5:145719246
GRCh38:
Chr5:146339683
LOC127814297, POU4F3V86Lnot specifiedUncertain significance
(Feb 1, 2019)
criteria provided, single submitter
41.
GRCh37:
Chr5:145719285
GRCh38:
Chr5:146339722
LOC127814297, POU4F3H99Ynot specified, Autosomal dominant nonsyndromic hearing loss 15, not provided
Conflicting interpretations of pathogenicity
(Sep 3, 2022)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr5:145719287
GRCh38:
Chr5:146339724
LOC127814297, POU4F3not providedBenign
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr5:145719288
GRCh38:
Chr5:146339725
LOC127814297, POU4F3P100Anot providedUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr5:145719299
GRCh38:
Chr5:146339736
LOC127814297, POU4F3not provided, Autosomal dominant nonsyndromic hearing loss 15Conflicting interpretations of pathogenicity
(Jun 9, 2022)
criteria provided, conflicting interpretations
45.
GRCh37:
Chr5:145719315
GRCh38:
Chr5:146339752
LOC127814297, POU4F3H109YAutosomal dominant nonsyndromic hearing loss 15Uncertain significance
(Mar 22, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr5:145719317
GRCh38:
Chr5:146339754
LOC127814297, POU4F3H109QAutosomal dominant nonsyndromic hearing loss 15Uncertain significance
(Feb 7, 2020)
criteria provided, single submitter
47.
GRCh37:
Chr5:145719320
GRCh38:
Chr5:146339757
LOC127814297, POU4F3not providedBenign
(Sep 27, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr5:145719331
GRCh38:
Chr5:146339768
LOC127814297, POU4F3G114DInborn genetic diseasesUncertain significance
(Jul 27, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr5:145719347
GRCh38:
Chr5:146339784
LOC127814297, POU4F3not providedLikely benign
(Feb 4, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr5:145719363
GRCh38:
Chr5:146339800
LOC127814297, POU4F3P125SAutosomal dominant nonsyndromic hearing loss 15Uncertain significance
(Oct 6, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr5:145719364
GRCh38:
Chr5:146339801
LOC127814297, POU4F3P125LAutosomal recessive sensorineural hearing loss, Hearing loss, autosomal recessivePathogenic/Likely pathogenic
(Jul 5, 2018)
no assertion criteria provided
52.
GRCh37:
Chr5:145719368
GRCh38:
Chr5:146339805
LOC127814297, POU4F3not specified, not provided, Autosomal dominant nonsyndromic hearing loss 15
Benign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr5:145719368
GRCh38:
Chr5:146339805
LOC127814297, POU4F3not specifiedLikely benign
(Dec 10, 2013)
criteria provided, single submitter
54.
GRCh37:
Chr5:145719372-145719373
GRCh38:
Chr5:146339809-146339810
LOC127814297, POU4F3S130fsRare genetic deafnessLikely pathogenic
(Mar 7, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr5:145719393
GRCh38:
Chr5:146339830
LOC127814297, POU4F3P135Snot specified, not provided, Autosomal dominant nonsyndromic hearing loss 15
Uncertain significance
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr5:145719395
GRCh38:
Chr5:146339832
LOC127814297, POU4F3not provided, Autosomal dominant nonsyndromic hearing loss 15Conflicting interpretations of pathogenicity
(Jul 18, 2022)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr5:145719396
GRCh38:
Chr5:146339833
LOC127814297, POU4F3E136Knot provided, Inborn genetic diseasesUncertain significance
(Nov 15, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr5:145719396
GRCh38:
Chr5:146339833
LOC127814297, POU4F3E136Qnot providedUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr5:145719411
GRCh38:
Chr5:146339848
POU4F3, LOC127814297P141Tnot specified, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Dec 3, 2021)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr5:145719429
GRCh38:
Chr5:146339866
LOC127814297, POU4F3H147YInborn genetic diseasesUncertain significance
(Apr 8, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr5:145719431
GRCh38:
Chr5:146339868
LOC127814297, POU4F3not providedLikely benign
(Apr 10, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr5:145719432
GRCh38:
Chr5:146339869
LOC127814297, POU4F3H148Ynot provided, Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 15
Uncertain significance
(Jan 11, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr5:145719452
GRCh38:
Chr5:146339889
POU4F3, LOC127814297H154Qnot providedUncertain significance
(Nov 2, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr5:145719467
GRCh38:
Chr5:146339904
LOC127814297, POU4F3G160fsAutosomal dominant nonsyndromic hearing loss 15Likely pathogenic
(Sep 1, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr5:145719480
GRCh38:
Chr5:146339917
LOC127814297, POU4F3P164Snot provided, not specifiedUncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr5:145719481
GRCh38:
Chr5:146339918
LOC127814297, POU4F3P164Lnot provided, not specifiedUncertain significance
(Sep 23, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr5:145719489
GRCh38:
Chr5:146339926
LOC127814297, POU4F3V167MAutosomal dominant nonsyndromic hearing loss 15not providedno assertion provided
68.
GRCh37:
Chr5:145719491
GRCh38:
Chr5:146339928
LOC127814297, POU4F3A168fsnot provided, Autosomal dominant nonsyndromic hearing loss 15Pathogenic/Likely pathogenic
(May 4, 2020)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr5:145719498
GRCh38:
Chr5:146339935
LOC127814297, POU4F3H170YAutosomal dominant nonsyndromic hearing loss 15Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr5:145719499
GRCh38:
Chr5:146339936
POU4F3, LOC127814297H170Rnot providedUncertain significance
(Apr 8, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr5:145719503
GRCh38:
Chr5:146339940
LOC127814297, POU4F3not providedLikely benign
(Sep 12, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr5:145719503
GRCh38:
Chr5:146339940
LOC127814297, POU4F3S171Rnot specified, not provided, Inborn genetic diseases,
Autosomal dominant nonsyndromic hearing loss 15
Uncertain significance
(Mar 21, 2023)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr5:145719504
GRCh38:
Chr5:146339941
LOC127814297, POU4F3A172SInborn genetic diseasesUncertain significance
(May 18, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr5:145719507
GRCh38:
Chr5:146339944
LOC127814297, POU4F3M173Lnot providedUncertain significance
(May 15, 2023)
criteria provided, single submitter
75.
GRCh37:
Chr5:145719515
GRCh38:
Chr5:146339952
LOC127814297, POU4F3not providedLikely benign
(Apr 15, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr5:145719516
GRCh38:
Chr5:146339953
LOC127814297, POU4F3C176Gnot providedConflicting interpretations of pathogenicity
(Sep 28, 2022)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr5:145719527
GRCh38:
Chr5:146339964
LOC127814297, POU4F3D179Enot providedUncertain significance
(Jun 27, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr5:145719528
GRCh38:
Chr5:146339965
LOC127814297, POU4F3V180Lnot providedUncertain significance
(Aug 14, 2020)
criteria provided, single submitter
79.
GRCh37:
Chr5:145719531
GRCh38:
Chr5:146339968
LOC127814297, POU4F3E181QInborn genetic diseasesUncertain significance
(Jan 17, 2023)
criteria provided, single submitter
80.
GRCh37:
Chr5:145719535
GRCh38:
Chr5:146339972
LOC127814297, POU4F3S182*Hearing impairmentLikely pathogenic
(Apr 12, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr5:145719536
GRCh38:
Chr5:146339973
LOC127814297, POU4F3not providedLikely benign
(Jun 26, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr5:145719537
GRCh38:
Chr5:146339974
LOC127814297, POU4F3D183Hnot providedUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr5:145719543
GRCh38:
Chr5:146339980
POU4F3, LOC127814297R185CAutosomal dominant nonsyndromic hearing loss 15Uncertain significance
(Aug 28, 2019)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr5:145719552-145719553
GRCh38:
Chr5:146339989-146339990
POU4F3, LOC127814297A189fsAutosomal dominant nonsyndromic hearing loss 15Pathogenic
(May 24, 2023)
criteria provided, single submitter
85.
GRCh37:
Chr5:145719554
GRCh38:
Chr5:146339991
LOC127814297, POU4F3not providedLikely benign
(Jul 19, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr5:145719566
GRCh38:
Chr5:146340003
LOC127814297, POU4F3not providedLikely benign
(Sep 14, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr5:145719567
GRCh38:
Chr5:146340004
LOC127814297, POU4F3R193CAutosomal dominant nonsyndromic hearing loss 15Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr5:145719579
GRCh38:
Chr5:146340016
LOC127814297, POU4F3not providedLikely benign
(Jan 27, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr5:145719580
GRCh38:
Chr5:146340017
LOC127814297, POU4F3R197Pnot providedUncertain significance
(Oct 20, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr5:145719581
GRCh38:
Chr5:146340018
LOC127814297, POU4F3Autosomal dominant nonsyndromic hearing loss 15Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr5:145719583
GRCh38:
Chr5:146340020
LOC127814297, POU4F3R198Hnot providedUncertain significance
(Jun 28, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr5:145719592
GRCh38:
Chr5:146340029
LOC127814297, POU4F3L201PAutosomal dominant nonsyndromic hearing loss 15Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr5:145719594
GRCh38:
Chr5:146340031
LOC127814297, POU4F3G202RAutosomal dominant nonsyndromic hearing loss 15Uncertain significance
(Jun 15, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr5:145719595
GRCh38:
Chr5:146340032
LOC127814297, POU4F3G202AAutosomal dominant nonsyndromic hearing loss 15Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
95.
GRCh37:
Chr5:145719612
GRCh38:
Chr5:146340049
LOC127814297, POU4F3V208Lnot providedUncertain significance
(Feb 28, 2023)
criteria provided, single submitter
96.
GRCh37:
Chr5:145719614
GRCh38:
Chr5:146340051
LOC127814297, POU4F3not provided, Autosomal dominant nonsyndromic hearing loss 15Conflicting interpretations of pathogenicity
(Feb 21, 2022)
criteria provided, conflicting interpretations
97.
GRCh37:
Chr5:145719625
GRCh38:
Chr5:146340062
LOC127814297, POU4F3L212PAutosomal dominant nonsyndromic hearing loss 15Likely pathogenic
(Mar 8, 2020)
criteria provided, single submitter
98.
GRCh37:
Chr5:145719635
GRCh38:
Chr5:146340072
LOC127814297, POU4F3not providedLikely benign
(May 12, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr5:145719643
GRCh38:
Chr5:146340080
LOC127814297, POU4F3P218RInborn genetic diseasesUncertain significance
(Mar 24, 2023)
criteria provided, single submitter
100.
GRCh37:
Chr5:145719652-145719665
GRCh38:
Chr5:146340089-146340102
LOC127814297, POU4F3G221fsAutosomal dominant nonsyndromic hearing loss 15Pathogenic
(Jun 4, 2010)
no assertion criteria provided
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