| - GRCh37:
- Chr5:105955289-155551397
- GRCh38:
- Chr5:106619588-156124387
| ABLIM3, ACSL6, ACSL6-AS1, ADAMTS19, ADAMTS19-AS1, ADRB2, AFAP1L1, AFF4, 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, LOC100505841, 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, LOC285638, LOX, LRRTM2, LVRN, LYRM7, MACROH2A1, MALINC1, MAN2A1, 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, 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, SPOCK1, SPRY4, SPRY4-AS1, SPRY4-IT1, SRA1, SRFBP1, SRP19, STARD4, STARD4-AS1, STING1, STK32A, STK32A-AS1, SYNPO, TAF7, TCERG1, TCF7, TCOF1, TEX43, 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, ZNF608 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:116012818-132021855
- GRCh38:
- Chr5:116677122-132686163
| ACSL6, ACSL6-AS1, ADAMTS19, ADAMTS19-AS1, ALDH7A1, C5orf63, CCDC192, CDC42SE2, CEP120, CHSY3, CSF2, CSNK1G3, CTXN3, DMXL1, DMXL1-DT, DTWD2, FAM170A, FBN2, FNIP1, FTMT, GRAMD2B, HINT1, HSD17B4, IL13, IL3, IL4, IL5, IRF1, IRF1-AS1, ISOC1, LINC00992, LINC01170, LINC02039, LINC02147, LINC02148, LINC02201, LINC02208, LINC02214, LINC02215, LINC02216, LINC02240, LINC02863, LMNB1, LMNB1-DT, LOC100505841, LOC101927357, LOC101927421, LOC101927488, LOC102467226, LOC105379176, LOC107198087, LOC108281143, LOC108449898, LOC110121082, LOC110121084, LOC110121107, LOC110121173, LOC110121303, LOC112997555, LOC112997556, LOC112997557, LOC112997558, LOC121079959, LOC121079960, LOC121079961, LOC123497958, LOC123497959, LOC123497960, LOC123497961, LOC123497962, LOC123497963, LOC123497964, LOC123497965, LOC123497966, LOC123497967, LOC123497968, LOX, LYRM7, MARCHF3, MEGF10, MEIKIN, MGC32805, MINAR2, MIR1244-2, MIR3936, MIR3936HG, MIR4460, MIR4633, MIR5706, MIR6830, P4HA2, P4HA2-AS1, PDLIM4, PHAX, PPIC, PRDM6, PRDM6-AS1, PRR16, PRRC1, RAD50, RAPGEF6, SLC12A2, SLC12A2-DT, SLC22A4, SLC22A5, SLC27A6, SNCAIP, SNX2, SNX24, SRFBP1, TEX43, TH2-LCR, TH2LCRR, TNFAIP8, ZNF474, ZNF474-AS1, ZNF608 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125774098-132209659
- GRCh38:
- Chr5:126438406-132873967
| ACSL6, ACSL6-AS1, ADAMTS19, ADAMTS19-AS1, ALDH7A1, C5orf63, CCDC192, CCNI2, CDC42SE2, CHSY3, CSF2, CTXN3, FBN2, FNIP1, GDF9, GRAMD2B, HINT1, IL13, IL3, IL4, IL5, IRF1, IRF1-AS1, ISOC1, KIF3A, LEAP2, LINC02863, LMNB1, LMNB1-DT, LOC105379176, LOC107198087, LOC108281143, LOC108449898, LOC110121107, LOC112997555, LOC112997556, LOC112997557, LOC112997558, LOC121079960, LOC121079961, LOC123497965, LOC123497966, LOC123497967, LOC123497968, LOC123497969, LYRM7, MARCHF3, MEGF10, MEIKIN, MINAR2, MIR3936, MIR3936HG, MIR4460, MIR4633, MIR6830, P4HA2, P4HA2-AS1, PDLIM4, PHAX, PRRC1, RAD50, RAPGEF6, SEPTIN8, SHROOM1, SLC12A2, SLC12A2-DT, SLC22A4, SLC22A5, SLC27A6, SOWAHA, TEX43, TH2-LCR, TH2LCRR, UQCRQ | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:129183487-152733106
- GRCh38:
- Chr5:129847794-153353546
| 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, 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, 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, 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 | | 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, 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, 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, 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:
- Chr5:130962196-135150743
- GRCh38:
- Chr5:131626503-135815054
| ACSL6, ACSL6-AS1, AFF4, C5orf15, C5orf24, CAMLG, CATSPER3, CCNI2, CDKL3, CDKN2AIPNL, CSF2, CXCL14, DCANP1, DDX46, EPIST, FNIP1, FSTL4, GDF9, HSPA4, IL13, IL3, IL4, IL5, IRF1, IRF1-AS1, JADE2, KIF3A, LEAP2, LINC01843, LINC02863, LINC02900, LINC02999, LOC105379176, LOC105379183, LOC107198087, LOC108281143, LOC108449898, LOC110121107, LOC110121118, LOC111500310, LOC112997558, LOC121079960, LOC121079961, LOC121079962, LOC121099701, LOC121099702, LOC123497968, LOC123497969, LOC123497970, LOC123497971, LOC123497972, LOC123497973, LOC123497974, MACROH2A1, MEIKIN, MIR1289-2, MIR3661, MIR3936, MIR3936HG, MIR4461, MIR5692C1, MIR6830, NEUROG1, P4HA2, P4HA2-AS1, PCBD2, PDLIM4, PITX1, PITX1-AS1, PPP2CA, RAD50, RAPGEF6, SAR1B, SEC24A, SEPTIN8, SHROOM1, SKP1, SLC22A4, SLC22A5, SLC25A48, SLC25A48-AS1, SOWAHA, TCF7, TH2-LCR, TH2LCRR, TIFAB, TXNDC15, UBE2B, UQCRQ, VDAC1, WSPAR, ZCCHC10 | | See cases | Pathogenic (Jul 30, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr5:131704720
- GRCh38:
- Chr5:132369028
| MIR3936HG, SLC22A5 | | Renal carnitine transport defect | Benign (Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705219
- GRCh38:
- Chr5:132369527
| MIR3936HG, SLC22A5 | | not provided | Benign (Jun 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705266
- GRCh38:
- Chr5:132369574
| MIR3936HG, SLC22A5 | | not provided | Benign (Jun 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705297
- GRCh38:
- Chr5:132369605
| MIR3936HG, SLC22A5 | | not provided | Benign (Jun 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705346
- GRCh38:
- Chr5:132369654
| MIR3936HG, SLC22A5 | | Renal carnitine transport defect | Likely benign (Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705431
- GRCh38:
- Chr5:132369739
| MIR3936HG, SLC22A5 | | Renal carnitine transport defect | Benign (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705434
- GRCh38:
- Chr5:132369742
| MIR3936HG, SLC22A5 | | Renal carnitine transport defect | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705458
- GRCh38:
- Chr5:132369766
| MIR3936HG, SLC22A5 | | not provided, Renal carnitine transport defect | Benign (Dec 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:131705458
- GRCh38:
- Chr5:132369766
| MIR3936HG, SLC22A5 | | Inflammatory bowel disease 5 | Uncertain significance (Mar 1, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr5:131705459
- GRCh38:
- Chr5:132369767
| SLC22A5, MIR3936HG | | Renal carnitine transport defect | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705516
- GRCh38:
- Chr5:132369824
| SLC22A5, MIR3936HG | | not provided, Renal carnitine transport defect | Conflicting interpretations of pathogenicity (Aug 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:131705526
- GRCh38:
- Chr5:132369834
| MIR3936HG, SLC22A5 | | Renal carnitine transport defect | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705534
- GRCh38:
- Chr5:132369842
| SLC22A5, MIR3936HG | | Renal carnitine transport defect | Uncertain significance (Jan 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705535-131705562
- GRCh38:
- Chr5:132369843-132369870
| SLC22A5, MIR3936HG | | Renal carnitine transport defect | Uncertain significance (Feb 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705547
- GRCh38:
- Chr5:132369855
| MIR3936HG, SLC22A5 | | not provided, Renal carnitine transport defect | Likely benign (Aug 14, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:131705558
- GRCh38:
- Chr5:132369866
| MIR3936HG, SLC22A5 | | Renal carnitine transport defect | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705565
- GRCh38:
- Chr5:132369873
| MIR3936HG, SLC22A5 | | not provided | Likely benign (Sep 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705574-131705686
- GRCh38:
- Chr5:132369882-132369994
| MIR3936HG, SLC22A5 | M1fs | Renal carnitine transport defect | Likely pathogenic (May 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705587-131705588
- GRCh38:
- Chr5:132369895-132369896
| SLC22A5, MIR3936HG | | not provided | Benign (Jul 31, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705587
- GRCh38:
- Chr5:132369895
| SLC22A5, MIR3936HG | | not specified, not provided, Renal carnitine transport defect
| Benign (Dec 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:131705588
- GRCh38:
- Chr5:132369896
| MIR3936HG, SLC22A5 | | not provided, Renal carnitine transport defect, not specified
| Benign (Dec 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:131705635
- GRCh38:
- Chr5:132369943
| SLC22A5 | | Renal carnitine transport defect | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705639
- GRCh38:
- Chr5:132369947
| SLC22A5 | | not specified, Renal carnitine transport defect | Conflicting interpretations of pathogenicity (Jul 15, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:131705640
- GRCh38:
- Chr5:132369948
| SLC22A5 | | Renal carnitine transport defect | Uncertain significance (Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:131705665
- GRCh38:
- Chr5:132369973
| SLC22A5 | M1L | Renal carnitine transport defect | Likely pathogenic (Nov 2, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705665
- GRCh38:
- Chr5:132369973
| SLC22A5 | M1V | Renal carnitine transport defect | Likely pathogenic (Aug 30, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705666
- GRCh38:
- Chr5:132369974
| SLC22A5 | M1T | Renal carnitine transport defect | Pathogenic (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705666
- GRCh38:
- Chr5:132369974
| SLC22A5 | M1R | Renal carnitine transport defect | Likely pathogenic (Feb 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705667
- GRCh38:
- Chr5:132369975
| SLC22A5 | M1I | Renal carnitine transport defect | Likely pathogenic (Sep 8, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705668
- GRCh38:
- Chr5:132369976
| SLC22A5 | R2G | Renal carnitine transport defect | Uncertain significance (Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:131705669
- GRCh38:
- Chr5:132369977
| SLC22A5 | R2P | Renal carnitine transport defect | Uncertain significance (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705676
- GRCh38:
- Chr5:132369984
| SLC22A5 | Y4* | Renal carnitine transport defect | Pathogenic (Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:131705677
- GRCh38:
- Chr5:132369985
| SLC22A5 | D5fs | Renal carnitine transport defect | Likely pathogenic (Feb 15, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705688
- GRCh38:
- Chr5:132369996
| SLC22A5 | | Renal carnitine transport defect | Likely benign (Nov 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705690
- GRCh38:
- Chr5:132369998
| SLC22A5 | A9V | Renal carnitine transport defect | Uncertain significance (Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:131705692
- GRCh38:
- Chr5:132370000
| SLC22A5 | F10L | Renal carnitine transport defect | Uncertain significance (Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:131705693
- GRCh38:
- Chr5:132370001
| SLC22A5 | F10Y | Renal carnitine transport defect | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705694
- GRCh38:
- Chr5:132370002
| SLC22A5 | | Renal carnitine transport defect | Likely benign (Dec 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705696
- GRCh38:
- Chr5:132370004
| SLC22A5 | L11P | Renal carnitine transport defect | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705698
- GRCh38:
- Chr5:132370006
| SLC22A5 | | Renal carnitine transport defect | Conflicting interpretations of pathogenicity (Oct 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:131705699
- GRCh38:
- Chr5:132370007
| SLC22A5 | G12D | Renal carnitine transport defect, not provided | Uncertain significance (Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:131705701
- GRCh38:
- Chr5:132370009
| SLC22A5 | E13K | Renal carnitine transport defect | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705701
- GRCh38:
- Chr5:132370009
| SLC22A5 | E13* | Renal carnitine transport defect | Pathogenic (Jan 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705703
- GRCh38:
- Chr5:132370011
| SLC22A5 | E13D | Renal carnitine transport defect | Uncertain significance (Jun 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705704
- GRCh38:
- Chr5:132370012
| SLC22A5 | W14R | Renal carnitine transport defect | Pathogenic (Oct 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705704-131705705
- GRCh38:
- Chr5:132370012-132370013
| SLC22A5 | | Renal carnitine transport defect | Uncertain significance (Mar 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705706
- GRCh38:
- Chr5:132370014
| SLC22A5 | W14C | Renal carnitine transport defect | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705706
- GRCh38:
- Chr5:132370014
| SLC22A5 | W14* | not provided | Pathogenic (Jan 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705707
- GRCh38:
- Chr5:132370015
| SLC22A5 | G15W | not provided, Renal carnitine transport defect | Pathogenic/Likely pathogenic (Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:131705708
- GRCh38:
- Chr5:132370016
| SLC22A5 | G15E | Renal carnitine transport defect | Conflicting interpretations of pathogenicity (Oct 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:131705715
- GRCh38:
- Chr5:132370023
| SLC22A5 | Q18fs | Renal carnitine transport defect | Likely pathogenic (May 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705715
- GRCh38:
- Chr5:132370023
| SLC22A5 | | not provided, Renal carnitine transport defect | Pathogenic (Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:131705716
- GRCh38:
- Chr5:132370024
| SLC22A5 | Q18E | Renal carnitine transport defect | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705717
- GRCh38:
- Chr5:132370025
| SLC22A5 | Q18R | Renal carnitine transport defect | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705719
- GRCh38:
- Chr5:132370027
| SLC22A5 | R19C | Renal carnitine transport defect | Likely pathogenic (Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705719
- GRCh38:
- Chr5:132370027
| SLC22A5 | R19S | Renal carnitine transport defect | Uncertain significance (Oct 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705720-131705721
- GRCh38:
- Chr5:132370028-132370029
| SLC22A5 | R19P | not provided, Renal carnitine transport defect | Pathogenic (Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:131705720
- GRCh38:
- Chr5:132370028
| SLC22A5 | | not provided, Renal carnitine transport defect | Conflicting interpretations of pathogenicity (Aug 28, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:131705721
- GRCh38:
- Chr5:132370029
| SLC22A5 | | not provided | Uncertain significance (Dec 7, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705723
- GRCh38:
- Chr5:132370031
| SLC22A5 | | not specified, not provided, Renal carnitine transport defect
| Conflicting interpretations of pathogenicity (Oct 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:131705726-131705728
- GRCh38:
- Chr5:132370034-132370036
| SLC22A5 | F23del | not provided, Renal carnitine transport defect | Pathogenic (Nov 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:131705727
- GRCh38:
- Chr5:132370035
| SLC22A5 | | Renal carnitine transport defect | Likely benign (Oct 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705732-131705734
- GRCh38:
- Chr5:132370040-132370042
| SLC22A5 | F23del | Renal carnitine transport defect | Pathogenic (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705735
- GRCh38:
- Chr5:132370043
| SLC22A5 | L24fs | not provided, Renal carnitine transport defect | Pathogenic (Dec 21, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:131705736
- GRCh38:
- Chr5:132370044
| SLC22A5 | | Renal carnitine transport defect | Likely benign (Aug 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705739
- GRCh38:
- Chr5:132370047
| SLC22A5 | | Renal carnitine transport defect | Likely benign (Dec 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705740
- GRCh38:
- Chr5:132370048
| SLC22A5 | S26G | Renal carnitine transport defect | Uncertain significance (Dec 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705741
- GRCh38:
- Chr5:132370049
| SLC22A5 | S26N | not provided, Renal carnitine transport defect | Conflicting interpretations of pathogenicity (Oct 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:131705747
- GRCh38:
- Chr5:132370055
| SLC22A5 | | Renal carnitine transport defect, not provided | Pathogenic (Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:131705748
- GRCh38:
- Chr5:132370056
| SLC22A5 | S28R | Renal carnitine transport defect | Uncertain significance (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705748
- GRCh38:
- Chr5:132370056
| SLC22A5 | S28R | Renal carnitine transport defect | Likely pathogenic (Nov 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705756
- GRCh38:
- Chr5:132370064
| SLC22A5 | P31L | Renal carnitine transport defect | Pathogenic (Oct 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705757
- GRCh38:
- Chr5:132370065
| SLC22A5 | | Renal carnitine transport defect, not provided | Likely benign (Oct 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:131705758
- GRCh38:
- Chr5:132370066
| SLC22A5 | N32D | Renal carnitine transport defect | Likely pathogenic (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705758
- GRCh38:
- Chr5:132370066
| SLC22A5 | N32H | not provided | Uncertain significance (Jan 14, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705759
- GRCh38:
- Chr5:132370067
| SLC22A5 | | not specified, not provided, Renal carnitine transport defect
| Pathogenic (Aug 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:131705767
- GRCh38:
- Chr5:132370075
| SLC22A5 | T35A | Renal carnitine transport defect | Likely benign (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705768
- GRCh38:
- Chr5:132370076
| SLC22A5 | T35I | Renal carnitine transport defect | Uncertain significance (Oct 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705769
- GRCh38:
- Chr5:132370077
| SLC22A5 | | Renal carnitine transport defect | Likely benign (Oct 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705773
- GRCh38:
- Chr5:132370081
| SLC22A5 | L37V | Renal carnitine transport defect | Uncertain significance (Oct 9, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705775
- GRCh38:
- Chr5:132370083
| SLC22A5 | | Renal carnitine transport defect | Likely benign (Jun 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705777
- GRCh38:
- Chr5:132370085
| SLC22A5 | S38Y | Renal carnitine transport defect | Pathogenic (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705778
- GRCh38:
- Chr5:132370086
| SLC22A5 | | Renal carnitine transport defect | Likely benign (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705778
- GRCh38:
- Chr5:132370086
| SLC22A5 | | Renal carnitine transport defect | Likely benign (May 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705779
- GRCh38:
- Chr5:132370087
| SLC22A5 | S39A | Renal carnitine transport defect | Conflicting interpretations of pathogenicity (Oct 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:131705781
- GRCh38:
- Chr5:132370089
| SLC22A5 | | Renal carnitine transport defect | Likely benign (Feb 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705782
- GRCh38:
- Chr5:132370090
| SLC22A5 | V40M | Renal carnitine transport defect | Uncertain significance (Nov 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:131705783
- GRCh38:
- Chr5:132370091
| SLC22A5 | V40E | Renal carnitine transport defect | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705786
- GRCh38:
- Chr5:132370094
| SLC22A5 | F41C | Renal carnitine transport defect | Uncertain significance (Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:131705787
- GRCh38:
- Chr5:132370095
| SLC22A5 | F41L | Renal carnitine transport defect | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705790
- GRCh38:
- Chr5:132370098
| SLC22A5 | | Renal carnitine transport defect | Likely benign (Nov 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705794
- GRCh38:
- Chr5:132370102
| SLC22A5 | A44T | Renal carnitine transport defect | Uncertain significance (Oct 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131705795
- GRCh38:
- Chr5:132370103
| SLC22A5 | A44V | not provided, Renal carnitine transport defect | Conflicting interpretations of pathogenicity (Apr 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:131705797
- GRCh38:
- Chr5:132370105
| SLC22A5 | T45A | Renal carnitine transport defect | Uncertain significance (Nov 12, 2021) | criteria provided, single submitter |