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Items: 1 to 100 of 866

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:105955289-155551397
GRCh38:
Chr5:106619588-156124387
ABLIM3, ACSL6, ACSL6-AS1, ADAMTS19, ADAMTS19-AS1, ADRB2, AFAP1L1, AFF4, 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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr5:116012818-132021855
GRCh38:
Chr5:116677122-132686163
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr5:125774098-132209659
GRCh38:
Chr5:126438406-132873967
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
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 casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
5.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr5:130962196-135150743
GRCh38:
Chr5:131626503-135815054
See casesPathogenic
(Jul 30, 2009)
no assertion criteria provided
7.
GRCh37:
Chr5:131704720
GRCh38:
Chr5:132369028
MIR3936HG, SLC22A5Renal carnitine transport defectBenign
(Dec 18, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr5:131705219
GRCh38:
Chr5:132369527
MIR3936HG, SLC22A5not providedBenign
(Jun 29, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr5:131705266
GRCh38:
Chr5:132369574
MIR3936HG, SLC22A5not providedBenign
(Jun 23, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr5:131705297
GRCh38:
Chr5:132369605
MIR3936HG, SLC22A5not providedBenign
(Jun 23, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr5:131705346
GRCh38:
Chr5:132369654
MIR3936HG, SLC22A5Renal carnitine transport defectLikely benign
(Dec 18, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr5:131705431
GRCh38:
Chr5:132369739
MIR3936HG, SLC22A5Renal carnitine transport defectBenign
(Apr 27, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr5:131705434
GRCh38:
Chr5:132369742
MIR3936HG, SLC22A5Renal carnitine transport defectUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr5:131705458
GRCh38:
Chr5:132369766
MIR3936HG, SLC22A5not provided, Renal carnitine transport defectBenign
(Dec 18, 2021)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr5:131705458
GRCh38:
Chr5:132369766
MIR3936HG, SLC22A5Inflammatory bowel disease 5Uncertain significance
(Mar 1, 2007)
no assertion criteria provided
16.
GRCh37:
Chr5:131705459
GRCh38:
Chr5:132369767
SLC22A5, MIR3936HGRenal carnitine transport defectUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr5:131705516
GRCh38:
Chr5:132369824
SLC22A5, MIR3936HGnot provided, Renal carnitine transport defectConflicting interpretations of pathogenicity
(Aug 2, 2022)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr5:131705526
GRCh38:
Chr5:132369834
MIR3936HG, SLC22A5Renal carnitine transport defectBenign
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr5:131705534
GRCh38:
Chr5:132369842
SLC22A5, MIR3936HGRenal carnitine transport defectUncertain significance
(Jan 18, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr5:131705535-131705562
GRCh38:
Chr5:132369843-132369870
SLC22A5, MIR3936HGRenal carnitine transport defectUncertain significance
(Feb 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr5:131705547
GRCh38:
Chr5:132369855
MIR3936HG, SLC22A5not provided, Renal carnitine transport defectLikely benign
(Aug 14, 2018)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr5:131705558
GRCh38:
Chr5:132369866
MIR3936HG, SLC22A5Renal carnitine transport defectBenign
(Jan 12, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr5:131705565
GRCh38:
Chr5:132369873
MIR3936HG, SLC22A5not providedLikely benign
(Sep 5, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr5:131705574-131705686
GRCh38:
Chr5:132369882-132369994
MIR3936HG, SLC22A5M1fsRenal carnitine transport defectLikely pathogenic
(May 24, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr5:131705587-131705588
GRCh38:
Chr5:132369895-132369896
SLC22A5, MIR3936HGnot providedBenign
(Jul 31, 2017)
criteria provided, single submitter
26.
GRCh37:
Chr5:131705587
GRCh38:
Chr5:132369895
SLC22A5, MIR3936HGnot specified, not provided, Renal carnitine transport defect
Benign
(Dec 18, 2021)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr5:131705588
GRCh38:
Chr5:132369896
MIR3936HG, SLC22A5not provided, Renal carnitine transport defect, not specified
Benign
(Dec 18, 2021)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr5:131705635
GRCh38:
Chr5:132369943
SLC22A5Renal carnitine transport defectUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr5:131705639
GRCh38:
Chr5:132369947
SLC22A5not specified, Renal carnitine transport defectConflicting interpretations of pathogenicity
(Jul 15, 2021)
criteria provided, conflicting interpretations
30.
GRCh37:
Chr5:131705640
GRCh38:
Chr5:132369948
SLC22A5Renal carnitine transport defectUncertain significance
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr5:131705665
GRCh38:
Chr5:132369973
SLC22A5M1LRenal carnitine transport defectLikely pathogenic
(Nov 2, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr5:131705665
GRCh38:
Chr5:132369973
SLC22A5M1VRenal carnitine transport defectLikely pathogenic
(Aug 30, 2017)
criteria provided, single submitter
33.
GRCh37:
Chr5:131705666
GRCh38:
Chr5:132369974
SLC22A5M1TRenal carnitine transport defectPathogenic
(Jul 14, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr5:131705666
GRCh38:
Chr5:132369974
SLC22A5M1RRenal carnitine transport defectLikely pathogenic
(Feb 15, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr5:131705667
GRCh38:
Chr5:132369975
SLC22A5M1IRenal carnitine transport defectLikely pathogenic
(Sep 8, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr5:131705668
GRCh38:
Chr5:132369976
SLC22A5R2GRenal carnitine transport defectUncertain significance
(Oct 3, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr5:131705669
GRCh38:
Chr5:132369977
SLC22A5R2PRenal carnitine transport defectUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr5:131705676
GRCh38:
Chr5:132369984
SLC22A5Y4*Renal carnitine transport defectPathogenic
(Aug 12, 2021)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr5:131705677
GRCh38:
Chr5:132369985
SLC22A5D5fsRenal carnitine transport defectLikely pathogenic
(Feb 15, 2017)
criteria provided, single submitter
40.
GRCh37:
Chr5:131705688
GRCh38:
Chr5:132369996
SLC22A5Renal carnitine transport defectLikely benign
(Nov 20, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr5:131705690
GRCh38:
Chr5:132369998
SLC22A5A9VRenal carnitine transport defectUncertain significance
(Oct 3, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr5:131705692
GRCh38:
Chr5:132370000
SLC22A5F10LRenal carnitine transport defectUncertain significance
(Oct 3, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr5:131705693
GRCh38:
Chr5:132370001
SLC22A5F10YRenal carnitine transport defectUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr5:131705694
GRCh38:
Chr5:132370002
SLC22A5Renal carnitine transport defectLikely benign
(Dec 14, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr5:131705696
GRCh38:
Chr5:132370004
SLC22A5L11PRenal carnitine transport defectUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr5:131705698
GRCh38:
Chr5:132370006
SLC22A5Renal carnitine transport defectConflicting interpretations of pathogenicity
(Oct 3, 2022)
criteria provided, conflicting interpretations
47.
GRCh37:
Chr5:131705699
GRCh38:
Chr5:132370007
SLC22A5G12DRenal carnitine transport defect, not providedUncertain significance
(Aug 28, 2021)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr5:131705701
GRCh38:
Chr5:132370009
SLC22A5E13KRenal carnitine transport defectUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr5:131705701
GRCh38:
Chr5:132370009
SLC22A5E13*Renal carnitine transport defectPathogenic
(Jan 29, 2020)
criteria provided, single submitter
50.
GRCh37:
Chr5:131705703
GRCh38:
Chr5:132370011
SLC22A5E13DRenal carnitine transport defectUncertain significance
(Jun 7, 2019)
criteria provided, single submitter
51.
GRCh37:
Chr5:131705704
GRCh38:
Chr5:132370012
SLC22A5W14RRenal carnitine transport defectPathogenic
(Oct 3, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr5:131705704-131705705
GRCh38:
Chr5:132370012-132370013
SLC22A5Renal carnitine transport defectUncertain significance
(Mar 28, 2017)
criteria provided, single submitter
53.
GRCh37:
Chr5:131705706
GRCh38:
Chr5:132370014
SLC22A5W14CRenal carnitine transport defectUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr5:131705706
GRCh38:
Chr5:132370014
SLC22A5W14*not providedPathogenic
(Jan 20, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr5:131705707
GRCh38:
Chr5:132370015
SLC22A5G15Wnot provided, Renal carnitine transport defectPathogenic/Likely pathogenic
(Oct 3, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr5:131705708
GRCh38:
Chr5:132370016
SLC22A5G15ERenal carnitine transport defectConflicting interpretations of pathogenicity
(Oct 3, 2022)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr5:131705715
GRCh38:
Chr5:132370023
SLC22A5Q18fsRenal carnitine transport defectLikely pathogenic
(May 21, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr5:131705715
GRCh38:
Chr5:132370023
SLC22A5not provided, Renal carnitine transport defectPathogenic
(Oct 3, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr5:131705716
GRCh38:
Chr5:132370024
SLC22A5Q18ERenal carnitine transport defectUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr5:131705717
GRCh38:
Chr5:132370025
SLC22A5Q18RRenal carnitine transport defectUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr5:131705719
GRCh38:
Chr5:132370027
SLC22A5R19CRenal carnitine transport defectLikely pathogenic
(Dec 15, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr5:131705719
GRCh38:
Chr5:132370027
SLC22A5R19SRenal carnitine transport defectUncertain significance
(Oct 9, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr5:131705720-131705721
GRCh38:
Chr5:132370028-132370029
SLC22A5R19Pnot provided, Renal carnitine transport defectPathogenic
(Aug 28, 2021)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr5:131705720
GRCh38:
Chr5:132370028
SLC22A5not provided, Renal carnitine transport defectConflicting interpretations of pathogenicity
(Aug 28, 2021)
criteria provided, conflicting interpretations
65.
GRCh37:
Chr5:131705721
GRCh38:
Chr5:132370029
SLC22A5not providedUncertain significance
(Dec 7, 2017)
criteria provided, single submitter
66.
GRCh37:
Chr5:131705723
GRCh38:
Chr5:132370031
SLC22A5not specified, not provided, Renal carnitine transport defect
Conflicting interpretations of pathogenicity
(Oct 3, 2022)
criteria provided, conflicting interpretations
67.
GRCh37:
Chr5:131705726-131705728
GRCh38:
Chr5:132370034-132370036
SLC22A5F23delnot provided, Renal carnitine transport defectPathogenic
(Nov 4, 2021)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr5:131705727
GRCh38:
Chr5:132370035
SLC22A5Renal carnitine transport defectLikely benign
(Oct 29, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr5:131705732-131705734
GRCh38:
Chr5:132370040-132370042
SLC22A5F23delRenal carnitine transport defectPathogenic
(Sep 1, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr5:131705735
GRCh38:
Chr5:132370043
SLC22A5L24fsnot provided, Renal carnitine transport defectPathogenic
(Dec 21, 2020)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr5:131705736
GRCh38:
Chr5:132370044
SLC22A5Renal carnitine transport defectLikely benign
(Aug 8, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr5:131705739
GRCh38:
Chr5:132370047
SLC22A5Renal carnitine transport defectLikely benign
(Dec 17, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr5:131705740
GRCh38:
Chr5:132370048
SLC22A5S26GRenal carnitine transport defectUncertain significance
(Dec 7, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr5:131705741
GRCh38:
Chr5:132370049
SLC22A5S26Nnot provided, Renal carnitine transport defectConflicting interpretations of pathogenicity
(Oct 3, 2022)
criteria provided, conflicting interpretations
75.
GRCh37:
Chr5:131705747
GRCh38:
Chr5:132370055
SLC22A5Renal carnitine transport defect, not providedPathogenic
(Aug 27, 2021)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr5:131705748
GRCh38:
Chr5:132370056
SLC22A5S28RRenal carnitine transport defectUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr5:131705748
GRCh38:
Chr5:132370056
SLC22A5S28RRenal carnitine transport defectLikely pathogenic
(Nov 23, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr5:131705756
GRCh38:
Chr5:132370064
SLC22A5P31LRenal carnitine transport defectPathogenic
(Oct 15, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr5:131705757
GRCh38:
Chr5:132370065
SLC22A5Renal carnitine transport defect, not providedLikely benign
(Oct 7, 2021)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr5:131705758
GRCh38:
Chr5:132370066
SLC22A5N32DRenal carnitine transport defectLikely pathogenic
(Aug 24, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr5:131705758
GRCh38:
Chr5:132370066
SLC22A5N32Hnot providedUncertain significance
(Jan 14, 2014)
criteria provided, single submitter
82.
GRCh37:
Chr5:131705759
GRCh38:
Chr5:132370067
SLC22A5not specified, not provided, Renal carnitine transport defect
Pathogenic
(Aug 25, 2021)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr5:131705767
GRCh38:
Chr5:132370075
SLC22A5T35ARenal carnitine transport defectLikely benign
(Oct 3, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr5:131705768
GRCh38:
Chr5:132370076
SLC22A5T35IRenal carnitine transport defectUncertain significance
(Oct 19, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr5:131705769
GRCh38:
Chr5:132370077
SLC22A5Renal carnitine transport defectLikely benign
(Oct 14, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr5:131705773
GRCh38:
Chr5:132370081
SLC22A5L37VRenal carnitine transport defectUncertain significance
(Oct 9, 2019)
criteria provided, single submitter
87.
GRCh37:
Chr5:131705775
GRCh38:
Chr5:132370083
SLC22A5Renal carnitine transport defectLikely benign
(Jun 13, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr5:131705777
GRCh38:
Chr5:132370085
SLC22A5S38YRenal carnitine transport defectPathogenic
(Sep 1, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr5:131705778
GRCh38:
Chr5:132370086
SLC22A5Renal carnitine transport defectLikely benign
(Dec 2, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr5:131705778
GRCh38:
Chr5:132370086
SLC22A5Renal carnitine transport defectLikely benign
(May 24, 2020)
criteria provided, single submitter
91.
GRCh37:
Chr5:131705779
GRCh38:
Chr5:132370087
SLC22A5S39ARenal carnitine transport defectConflicting interpretations of pathogenicity
(Oct 3, 2022)
criteria provided, conflicting interpretations
92.
GRCh37:
Chr5:131705781
GRCh38:
Chr5:132370089
SLC22A5Renal carnitine transport defectLikely benign
(Feb 6, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr5:131705782
GRCh38:
Chr5:132370090
SLC22A5V40MRenal carnitine transport defectUncertain significance
(Nov 2, 2021)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr5:131705783
GRCh38:
Chr5:132370091
SLC22A5V40ERenal carnitine transport defectUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr5:131705786
GRCh38:
Chr5:132370094
SLC22A5F41CRenal carnitine transport defectUncertain significance
(Oct 3, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr5:131705787
GRCh38:
Chr5:132370095
SLC22A5F41LRenal carnitine transport defectUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr5:131705790
GRCh38:
Chr5:132370098
SLC22A5Renal carnitine transport defectLikely benign
(Nov 20, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr5:131705794
GRCh38:
Chr5:132370102
SLC22A5A44TRenal carnitine transport defectUncertain significance
(Oct 16, 2020)
criteria provided, single submitter
99.
GRCh37:
Chr5:131705795
GRCh38:
Chr5:132370103
SLC22A5A44Vnot provided, Renal carnitine transport defectConflicting interpretations of pathogenicity
(Apr 26, 2022)
criteria provided, conflicting interpretations
100.
GRCh37:
Chr5:131705797
GRCh38:
Chr5:132370105
SLC22A5T45ARenal carnitine transport defectUncertain significance
(Nov 12, 2021)
criteria provided, single submitter
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