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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr5:105955289-155551397
GRCh38:
Chr5:106619588-156124387
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, 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, 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, LINCADL, LMNB1, LMNB1-DT, LOC100128966, LOC100505841, LOC100652758, LOC101926905, LOC101927023, LOC101927078, LOC101927190, LOC101927357, LOC101927421, LOC101927488, LOC101929719, LOC102467216, LOC102467217, LOC102467226, LOC102546229, 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
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059672
2.
GRCh37:
Chr5:129183487-152733106
GRCh38:
Chr5:129847794-153353546
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, 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, LOC100128966, LOC100652758, LOC101926905, LOC101929719, LOC102546229, 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, 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, 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 providedVCV000149858
3.
GRCh37:
Chr5:130196621-154701371
GRCh38:
Chr5:130860928-155321811
LOC121099709, LOC121099710, 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, 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, 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, LOC100128966, LOC100652758, LOC101926905, LOC101929719, LOC102546229, 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
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057483
4.
GRCh37:
Chr5:149094155-180699152
GRCh38:
Chr5:149714592-181272151
BTNL9, PPP1R2B, FAM71B, RNF145, HIGD2A, FAM153B, SLC36A1, EIF4E1B, RASGEF1C, LINC01366, EFCAB9, SH3PXD2B, LOC285593, FAM153A, ARL10, LOC285626, LINC01845, LINC02159, SLC36A3, KIF4B, OR2V2, ZNF454, C5orf60, PRR7-AS1, ARSI, PFN3, ZNF879, IRGM, FBLL1, NIPAL4, SIMC1, SAP30L-AS1, MIR103A1, MIR146A, MIR218-2, FNDC9, LINC01951, MIR340, MIR378A, SNORD95, SNORD96A, ZFP62, SMIM23, CBY3, SNORA74B, MIR585, SLIT3-AS1, LINC00847, TRK-CTT2-3, TRV-CAC1-3, TRV-CAC1-5, LOC100128059, LOC100128340, LOC100130798, INSYN2B, TRV-AAC1-2, TRV-AAC2-1, TRL-AAG1-3, TRL-AAG1-2, TRA-TGC3-1, TRL-AAG2-1, TRL-AAG1-1, TRK-CTT2-2, TRV-CAC1-4, C5orf52, LOC100268168, LOC100288254, LOC100289470, MIR1229, MIR1294, MIR1271, MIR103B1, MIR1303, MIR3142, MIR3141, MIR4281, MIR3912, LOC100502572, LINC01187, LOC100507387, TRIM52-AS1, MIR4634, MIR378H, MIR4638, MIR378E, LOC100652758, MIR5003, HEIH, LOC100996385, LOC100996419, CLMAT3, LINC01933, LINC01470, LINC02227, LINC02202, LINC01847, HMMR-AS1, LINC02143, CTB-178M22.2, LOC101927908, SLIT3-AS2, KCNIP1-OT1, LOC101928093, LINC01484, LINC01485, LINC01411, RUFY1-AS1, CTC-338M12.4, MIR6499, MIR8056, MIR8089, NDST1-AS1, LOC102546299, LINC01947, LINC01574, LINC01962, NIPAL4-DT, MSANTD5, LINC01202, LINC01932, FABP6-AS1, LINC01938, KCNIP1-AS1, LINC01944, LINC01942, THOC3-AS1, LOC105377763, LINC02222, LOC105378230, ATOX1-AS1, LINC01861, LOC105980006, LOC105980008, MIR3142HG, LOC108004526, LOC108228201, LOC109279841, SNORA70J, LOC110120620, LOC110120643, LOC110120714, LOC110120747, LOC110120777, LOC110120965, LOC110120995, LOC110120998, LOC110121000, LOC110121027, LOC110121041, LOC110121211, LOC110121241, LOC110121272, LOC110121284, LOC111188152, LOC111188153, LOC111188154, LOC111188156, LOC111429606, LOC111500319, LOC111556140, LOC111828524, LOC112997568, LOC112997569, LOC112997570, LOC112997571, LOC112997572, LOC112997574, LOC112997575, LOC112997576, LOC112997577, LOC112997578, LOC112997579, LOC112997580, LOC112997581, LOC112997582, LOC112997583, LOC112997584, MIR10523, MIR12125, MIR12118, LOC114004391, LOC116158526, LOC116158527, LOC116158528, LOC116158530, LOC116158531, LOC116158532, LOC116158533, LOC116158534, LOC116158535, LOC116158536, LOC121099710, LOC121099711, LOC121099712, LOC121099713, LOC121099714, LOC121099715, LOC121099716, LOC121099717, LOC121099718, ADRA1B, ANXA6, ATOX1, BNIP1, CAMK2A, CANX, CCNG1, CD74, CDX1, CLTB, CSF1R, NKX2-5, DBN1, DOCK2, DRD1, SLC26A2, DUSP1, EBF1, F12, FABP6, FAT2, FGFR4, FOXI1, FLT4, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GLRA1, GM2A, GRK6, GPX3, GRIA1, GRM6, HK3, HMMR, HNRNPAB, HNRNPH1, HRH2, NDST1, IL12B, ITK, KCNMB1, LCP2, LTC4S, MFAP3, MGAT1, MSX2, NPM1, PDE6A, PDGFRB, MAPK9, PROP1, RARS1, RPS14, SGCD, SLC6A7, SLC34A1, SLIT3, SNCB, SPARC, STK10, ZNF354A, TCOF1, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TRV-AAC1-3, TTC1, STC2, ADAM19, FGF18, SQSTM1, ATP6V0E1, PTTG1, PDLIM7, CNOT8, HAND1, MED7, ADAMTS2, CLINT1, MAML1, GFPT2, G3BP1, TNIP1, RACK1, SLU7, RGS14, CPLX2, FAXDC2, FAM114A2, BTNL3, LMAN2, SOX30, MGAT4B, B4GALT7, SYNPO, RNF44, HMGXB3, TBC1D9B, ATP10B, N4BP3, FAF2, WWC1, FBXW11, LARP1, ZNF346, GEMIN5, CCDC69, TSPAN17, OR2V1, HAVCR1, CYFIP2, PRELID1, MAT2B, MRPL22, TLX3, KCNIP1, ZNF354C, RPL26L1, MRNIP, DCTN4, DDX41, NOP16, NSG2, UIMC1, RAB24, NEURL1B, FAM193B, TMED9, CDHR2, SPDL1, THG1L, GALNT10, NHP2, RBM22, RNF130, NMUR2, KIAA1191, ERGIC1, CLK4, TENM2, CNOT6, ZBED8, NSD1, GMCL2, RMND5B, RANBP17, CCNJL, PANK3, SAP30L, BTNL8, DOK3, ZFP2, RUFY1, CPEB4, PRR7, TRIM7, TIGD6, MXD3, THOC3, TRIM52, HAVCR2, PHYKPL, SMIM3, UNC5A, TRIM41, BOD1, COL23A1, TIMD4, ZNF300, MYOZ3, UBTD2, SCGB3A1, SFXN1, GPRIN1, PWWP2A, C1QTNF2, ZNF354B, C5orf47, PPARGC1B, C5orf58, OR2Y1, LSM11, NUDCD2, UBLCP1, SLC36A2, CREBRF
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058118
5.
GRCh37:
Chr5:149340304
GRCh38:
Chr5:149960741
SLC26A2Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB, Diastrophic dysplasia,
Atelosteogenesis type II, Osteochondrodysplasia
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000907995
6.
GRCh37:
Chr5:149340312
GRCh38:
Chr5:149960749
SLC26A2Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia,
Achondrogenesis, type IB, Osteochondrodysplasia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000352012
7.
GRCh37:
Chr5:149340330
GRCh38:
Chr5:149960767
SLC26A2Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia,
Achondrogenesis, type IB, Osteochondrodysplasia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000352013
8.
GRCh37:
Chr5:149340333
GRCh38:
Chr5:149960770
SLC26A2Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia,
Achondrogenesis, type IB, Osteochondrodysplasia
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000352014
9.
GRCh37:
Chr5:149340337
GRCh38:
Chr5:149960774
SLC26A2not providedLikely benign
(Jun 5, 2019)
criteria provided, single submitterVCV001191571
10.
GRCh37:
Chr5:149340339
GRCh38:
Chr5:149960776
SLC26A2Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4,
Osteochondrodysplasia, Achondrogenesis, type IB
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000905477
11.
GRCh37:
Chr5:149340345
GRCh38:
Chr5:149960782
SLC26A2Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Diastrophic dysplasia,
Achondrogenesis, type IB, Osteochondrodysplasia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000352015
12.
GRCh37:
Chr5:149340362
GRCh38:
Chr5:149960799
SLC26A2Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Diastrophic dysplasia,
Achondrogenesis, type IB, Osteochondrodysplasia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000352016
13.
GRCh37:
Chr5:149340385
GRCh38:
Chr5:149960822
SLC26A2Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Diastrophic dysplasia,
Achondrogenesis, type IB, Osteochondrodysplasia
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000352017
14.
GRCh37:
Chr5:149340405
GRCh38:
Chr5:149960842
SLC26A2Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Diastrophic dysplasia,
Achondrogenesis, type IB, Osteochondrodysplasia
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000352018
15.
GRCh37:
Chr5:149340406
GRCh38:
Chr5:149960843
SLC26A2Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB, Atelosteogenesis type II,
Diastrophic dysplasia, Osteochondrodysplasia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000352019
16.
GRCh37:
Chr5:149340528
GRCh38:
Chr5:149960965
SLC26A2Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB, Atelosteogenesis type II,
Diastrophic dysplasia, Osteochondrodysplasia
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000352020
17.
GRCh37:
Chr5:149340544
GRCh38:
Chr5:149960981
SLC26A2Osteochondrodysplasia, not provided, SLC26A2-Related Disorders,
Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Diastrophic dysplasia,
Achondrogenesis, type IB, 3MC syndrome 2, Achondrogenesis, type IB,
Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4Diastrophic dysplasia,
...see more
Pathogenic
(Aug 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000004097
18.
GRCh37:
Chr5:149356963
GRCh38:
Chr5:149977400
SLC26A2not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000671455
19.
GRCh37:
Chr5:149357060
GRCh38:
Chr5:149977497
SLC26A2not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000671224
20.
GRCh37:
Chr5:149357218
GRCh38:
Chr5:149977655
SLC26A2M1IMultiple epiphyseal dysplasia type 4Likely pathogenic
(Mar 22, 2017)
criteria provided, single submitterVCV000550984
21.
GRCh37:
Chr5:149357226-149357230
GRCh38:
Chr5:149977663-149977667
SLC26A2S5fsAchondrogenesis, type IB, Diastrophic dysplasia, Atelosteogenesis type II,
Multiple epiphyseal dysplasia type 4
Pathogenic
(Nov 15, 2019)
criteria provided, single submitterVCV000971526
22.
GRCh37:
Chr5:149357227
GRCh38:
Chr5:149977664
SLC26A2Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II,
Diastrophic dysplasia
Likely benign
(Jan 17, 2020)
criteria provided, single submitterVCV001134866
23.
GRCh37:
Chr5:149357230
GRCh38:
Chr5:149977667
SLC26A2Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia,
Multiple epiphyseal dysplasia type 4
Likely benign
(Aug 7, 2019)
criteria provided, single submitterVCV001117240
24.
GRCh37:
Chr5:149357236
GRCh38:
Chr5:149977673
SLC26A2Diastrophic dysplasia, Atelosteogenesis type II, Achondrogenesis, type IB,
Multiple epiphyseal dysplasia type 4, not provided
Likely benign
(Nov 16, 2018)
criteria provided, single submitterVCV000795522
25.
GRCh37:
Chr5:149357239
GRCh38:
Chr5:149977676
SLC26A2not provided, Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB,
Diastrophic dysplasia, Atelosteogenesis type II
Conflicting interpretations of pathogenicity
(Sep 26, 2020)
criteria provided, conflicting interpretationsVCV000195017
26.
GRCh37:
Chr5:149357245
GRCh38:
Chr5:149977682
SLC26A2Achondrogenesis, type IB, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4,
Atelosteogenesis type II
Likely benign
(Jul 9, 2020)
criteria provided, single submitterVCV001128568
27.
GRCh37:
Chr5:149357262
GRCh38:
Chr5:149977699
SLC26A2S16*Diastrophic dysplasiaLikely pathogenicno assertion criteria providedVCV000056024
28.
GRCh37:
Chr5:149357266
GRCh38:
Chr5:149977703
SLC26A2Achondrogenesis, type IB, Diastrophic dysplasia, Atelosteogenesis type II,
Multiple epiphyseal dysplasia type 4
Likely benign
(Jun 25, 2020)
criteria provided, single submitterVCV001123471
29.
GRCh37:
Chr5:149357270
GRCh38:
Chr5:149977707
SLC26A2G19*Diastrophic dysplasia, OsteochondrodysplasiaLikely pathogenic
(Aug 27, 2018)
criteria provided, single submitterVCV000056026
30.
GRCh37:
Chr5:149357272
GRCh38:
Chr5:149977709
SLC26A2Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II,
Diastrophic dysplasia
Likely benign
(Jul 31, 2020)
criteria provided, single submitterVCV001132885
31.
GRCh37:
Chr5:149357277-149357278
GRCh38:
Chr5:149977714-149977715
SLC26A2D21fsMultiple epiphyseal dysplasia type 4Likely pathogenic
(Dec 6, 2017)
criteria provided, single submitterVCV000555480
32.
GRCh37:
Chr5:149357290
GRCh38:
Chr5:149977727
SLC26A2Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia,
Multiple epiphyseal dysplasia type 4
Likely benign
(Apr 10, 2020)
criteria provided, single submitterVCV001117637
33.
GRCh37:
Chr5:149357296
GRCh38:
Chr5:149977733
SLC26A2Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB,
Atelosteogenesis type II
Likely benign
(Sep 30, 2020)
criteria provided, single submitterVCV001159074
34.
GRCh37:
Chr5:149357296
GRCh38:
Chr5:149977733
SLC26A2I27Mnot providedUncertain significanceno assertion criteria providedVCV000064386
35.
GRCh37:
Chr5:149357311
GRCh38:
Chr5:149977748
SLC26A2Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4,
Achondrogenesis, type IB
Likely benign
(Feb 5, 2020)
criteria provided, single submitterVCV001154836
36.
GRCh37:
Chr5:149357320
GRCh38:
Chr5:149977757
SLC26A2Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia,
Multiple epiphyseal dysplasia type 4
Likely benign
(Nov 17, 2020)
criteria provided, single submitterVCV001093452
37.
GRCh37:
Chr5:149357320
GRCh38:
Chr5:149977757
SLC26A2Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB, Atelosteogenesis type II,
Diastrophic dysplasia
Likely benign
(Jun 22, 2020)
criteria provided, single submitterVCV001090606
38.
GRCh37:
Chr5:149357329
GRCh38:
Chr5:149977766
SLC26A2not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV000618366
39.
GRCh37:
Chr5:149357332
GRCh38:
Chr5:149977769
SLC26A2Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB,
Atelosteogenesis type II
Likely benign
(Sep 30, 2020)
criteria provided, single submitterVCV001159080
40.
GRCh37:
Chr5:149357347
GRCh38:
Chr5:149977784
SLC26A2Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia,
Multiple epiphyseal dysplasia type 4
Likely benign
(Oct 29, 2019)
criteria provided, single submitterVCV001100158
41.
GRCh37:
Chr5:149357347
GRCh38:
Chr5:149977784
SLC26A2Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB, Atelosteogenesis type II,
Diastrophic dysplasia
Likely benign
(Aug 3, 2020)
criteria provided, single submitterVCV001087511
42.
GRCh37:
Chr5:149357352-149357353
GRCh38:
Chr5:149977789-149977790
SLC26A2Q47fsAchondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia,
Multiple epiphyseal dysplasia type 4
Pathogenic
(Aug 4, 2019)
criteria provided, single submitterVCV000964035
43.
GRCh37:
Chr5:149357356
GRCh38:
Chr5:149977793
SLC26A2Atelosteogenesis type II, Diastrophic dysplasia, Achondrogenesis, type IB,
Multiple epiphyseal dysplasia type 4
Likely benign
(Jul 15, 2020)
criteria provided, single submitterVCV001104521
44.
GRCh37:
Chr5:149357360
GRCh38:
Chr5:149977797
SLC26A2R49fsOsteochondrodysplasiaLikely pathogenic
(Nov 18, 2019)
criteria provided, single submitterVCV000928889
45.
GRCh37:
Chr5:149357364
GRCh38:
Chr5:149977801
SLC26A2P50LAchondrogenesis, type IB, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II,
Diastrophic dysplasia
Uncertain significance
(Mar 6, 2020)
criteria provided, single submitterVCV001000175
46.
GRCh37:
Chr5:149357374
GRCh38:
Chr5:149977811
SLC26A2Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB, Atelosteogenesis type II,
Diastrophic dysplasia
Likely benign
(Sep 15, 2020)
criteria provided, single submitterVCV001089019
47.
GRCh37:
Chr5:149357386
GRCh38:
Chr5:149977823
SLC26A2Achondrogenesis, type IB, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4,
Atelosteogenesis type II
Likely benign
(Apr 23, 2020)
criteria provided, single submitterVCV001129029
48.
GRCh37:
Chr5:149357387
GRCh38:
Chr5:149977824
SLC26A2R58CAchondrogenesis, type IB, Achondrogenesis, type IB, Atelosteogenesis type II,
Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia, not provided
Uncertain significance
(Oct 1, 2020)
criteria provided, single submitterVCV000064383
49.
GRCh37:
Chr5:149357388
GRCh38:
Chr5:149977825
SLC26A2R58HMultiple epiphyseal dysplasia type 4, Achondrogenesis, type IB, Diastrophic dysplasia,
Atelosteogenesis type II
Likely benign
(Nov 14, 2020)
criteria provided, single submitterVCV001127220
50.
GRCh37:
Chr5:149357392
GRCh38:
Chr5:149977829
SLC26A2Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB, Atelosteogenesis type II,
Diastrophic dysplasia
Likely benign
(Oct 16, 2019)
criteria provided, single submitterVCV001090218
51.
GRCh37:
Chr5:149357400
GRCh38:
Chr5:149977837
SLC26A2S62*Diastrophic dysplasia, Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4,
Atelosteogenesis type II
Likely pathogenic
(Sep 1, 2016)
criteria provided, single submitterVCV000371772
52.
GRCh37:
Chr5:149357403
GRCh38:
Chr5:149977840
SLC26A2D63Gnot providedUncertain significance
(Dec 1, 2019)
criteria provided, single submitterVCV000870763
53.
GRCh37:
Chr5:149357403
GRCh38:
Chr5:149977840
SLC26A2D63fsDiastrophic dysplasia, Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4,
Atelosteogenesis type II
Likely pathogenic
(May 11, 2016)
criteria provided, single submitterVCV000371736
54.
GRCh37:
Chr5:149357408
GRCh38:
Chr5:149977845
SLC26A2N65DAchondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia,
Multiple epiphyseal dysplasia type 4
Likely benign
(Nov 11, 2020)
criteria provided, single submitterVCV001096971
55.
GRCh37:
Chr5:149357411
GRCh38:
Chr5:149977848
SLC26A2F66LAchondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia,
Multiple epiphyseal dysplasia type 4
Likely benign
(Nov 26, 2020)
criteria provided, single submitterVCV001108591
56.
GRCh37:
Chr5:149357419
GRCh38:
Chr5:149977856
SLC26A2Achondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia,
Multiple epiphyseal dysplasia type 4
Likely benign
(Jan 10, 2020)
criteria provided, single submitterVCV001094881
57.
GRCh37:
Chr5:149357420
GRCh38:
Chr5:149977857
SLC26A2F69fsDiastrophic dysplasia, Achondrogenesis, type IB, Atelosteogenesis type II,
Multiple epiphyseal dysplasia type 4
Likely pathogenic
(Nov 18, 2015)
criteria provided, single submitterVCV000371687
58.
GRCh37:
Chr5:149357425
GRCh38:
Chr5:149977862
SLC26A2Atelosteogenesis type II, Diastrophic dysplasia, Achondrogenesis, type IB,
Multiple epiphyseal dysplasia type 4
Likely benign
(Apr 29, 2019)
criteria provided, single submitterVCV001105720
59.
GRCh37:
Chr5:149357439-149357441
GRCh38:
Chr5:149977876-149977878
SLC26A2K76delAchondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia,
Multiple epiphyseal dysplasia type 4
Uncertain significance
(Oct 30, 2020)
criteria provided, single submitterVCV001043792
60.
GRCh37:
Chr5:149357443
GRCh38:
Chr5:149977880
SLC26A2Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4,
Achondrogenesis, type IB
Likely benign
(Dec 23, 2019)
criteria provided, single submitterVCV001153773
61.
GRCh37:
Chr5:149357444
GRCh38:
Chr5:149977881
SLC26A2N77Hnot specified, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4,
Diastrophic dysplasia, Osteochondrodysplasia, Achondrogenesis, type IB,
Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia,
none provided, Achondrogenesis, type IB ...see more
Conflicting interpretations of pathogenicity
(May 18, 2021)
criteria provided, conflicting interpretationsVCV000281118
62.
GRCh37:
Chr5:149357449-149357450
GRCh38:
Chr5:149977886-149977887
SLC26A2P82fsDiastrophic dysplasia, Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4,
Diastrophic dysplasia, Achondrogenesis, type IB, Atelosteogenesis type II,
Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II
Pathogenic/Likely pathogenic
(Feb 24, 2020)
criteria provided, multiple submitters, no conflictsVCV000371749
63.
GRCh37:
Chr5:149357450
GRCh38:
Chr5:149977887
SLC26A2Q79*Achondrogenesis, type IBLikely pathogenic
(Sep 24, 2018)
criteria provided, single submitterVCV000976051
64.
GRCh37:
Chr5:149357461-149357466
GRCh38:
Chr5:149977898-149977903
SLC26A2Multiple epiphyseal dysplasia type 4Uncertain significance
(Feb 1, 2017)
criteria provided, single submitterVCV000550569
65.
GRCh37:
Chr5:149357469
GRCh38:
Chr5:149977906
SLC26A2N87fsDiastrophic dysplasiaLikely pathogenicno assertion criteria providedVCV000056021
66.
GRCh37:
Chr5:149357494
GRCh38:
Chr5:149977931
SLC26A2Achondrogenesis, type IB, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4,
Diastrophic dysplasia
Likely benign
(Aug 18, 2019)
criteria provided, single submitterVCV001084257
67.
GRCh37:
Chr5:149357495
GRCh38:
Chr5:149977932
SLC26A2P94SDiastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II,
Osteochondrodysplasia, Achondrogenesis, type IB
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000906062
68.
GRCh37:
Chr5:149357512
GRCh38:
Chr5:149977949
SLC26A2Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB,
Atelosteogenesis type II
Likely benign
(Jul 12, 2019)
criteria provided, single submitterVCV001159549
69.
GRCh37:
Chr5:149357512
GRCh38:
Chr5:149977949
SLC26A2P100fsAchondrogenesis, type IBPathogenic
(Dec 20, 2018)
criteria provided, single submitterVCV000816912
70.
GRCh37:
Chr5:149357525
GRCh38:
Chr5:149977962
SLC26A2Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB,
Atelosteogenesis type II
Likely benign
(May 6, 2020)
criteria provided, single submitterVCV001158956
71.
GRCh37:
Chr5:149357530
GRCh38:
Chr5:149977967
SLC26A2Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB, Atelosteogenesis type II,
Diastrophic dysplasia
Likely benign
(Oct 9, 2020)
criteria provided, single submitterVCV001137256
72.
GRCh37:
Chr5:149357531
GRCh38:
Chr5:149977968
SLC26A2K106Enot providedUncertain significance
(May 1, 2020)
criteria provided, single submitterVCV000932397
73.
GRCh37:
Chr5:149357538-149357539
GRCh38:
Chr5:149977975-149977976
SLC26A2L109fsMultiple epiphyseal dysplasia type 4Likely pathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000557364
74.
GRCh37:
Chr5:149357540-149357541
GRCh38:
Chr5:149977977-149977978
SLC26A2Multiple epiphyseal dysplasia type 4Uncertain significance
(Mar 29, 2018)
criteria provided, single submitterVCV000557539
75.
GRCh37:
Chr5:149357546
GRCh38:
Chr5:149977983
SLC26A2D111YDiastrophic dysplasiaLikely pathogenicno assertion criteria providedVCV000056022
76.
GRCh37:
Chr5:149357579
GRCh38:
Chr5:149978016
SLC26A2Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB, Atelosteogenesis type II,
Diastrophic dysplasia
Likely benign
(Feb 20, 2019)
criteria provided, single submitterVCV001136417
77.
GRCh37:
Chr5:149357589
GRCh38:
Chr5:149978026
SLC26A2Q125LAtelosteogenesis type IIPathogenic
(May 9, 2016)
no assertion criteria providedVCV000226418
78.
GRCh37:
Chr5:149357602
GRCh38:
Chr5:149978039
SLC26A2Y129*Multiple epiphyseal dysplasia type 4Likely pathogenic
(Aug 15, 2017)
criteria provided, single submitterVCV000553337
79.
GRCh37:
Chr5:149357604
GRCh38:
Chr5:149978041
SLC26A2L131fsAtelosteogenesis type II, Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia,
Achondrogenesis, type IB
Likely pathogenic
(Jun 24, 2016)
criteria provided, single submitterVCV000004088
80.
GRCh37:
Chr5:149357613
GRCh38:
Chr5:149978050
SLC26A2A133VDiastrophic dysplasiaPathogenic
(Nov 15, 2008)
no assertion criteria providedVCV000004100
81.
GRCh37:
Chr5:149357618
GRCh38:
Chr5:149978055
SLC26A2Q135KDiastrophic dysplasia, Achondrogenesis, type IB, Atelosteogenesis type II,
Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia
Uncertain significance
(Nov 15, 2018)
criteria provided, single submitterVCV000056023
82.
GRCh37:
Chr5:149357641
GRCh38:
Chr5:149978078
SLC26A2Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4,
Achondrogenesis, type IB
Likely benign
(Sep 11, 2020)
criteria provided, single submitterVCV001154883
83.
GRCh37:
Chr5:149357646-149357647
GRCh38:
Chr5:149978083-149978084
SLC26A2A147fsAchondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia,
Multiple epiphyseal dysplasia type 4
Pathogenic
(Sep 17, 2018)
criteria provided, single submitterVCV000656557
84.
GRCh37:
Chr5:149357647
GRCh38:
Chr5:149978084
SLC26A2F146fsAchondrogenesis, type IB, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4,
Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4
Pathogenic/Likely pathogenic
(May 10, 2019)
criteria provided, multiple submitters, no conflictsVCV000557601
85.
GRCh37:
Chr5:149357654
GRCh38:
Chr5:149978091
SLC26A2A147SMultiple epiphyseal dysplasia type 4, Achondrogenesis, type IB, Atelosteogenesis type II,
Diastrophic dysplasia
Likely benign
(Jul 20, 2020)
criteria provided, single submitterVCV001155921
86.
GRCh37:
Chr5:149357664
GRCh38:
Chr5:149978101
SLC26A2Y151fsOsteochondrodysplasia, Multiple epiphyseal dysplasia type 4Likely pathogenic
(Oct 22, 2018)
criteria provided, multiple submitters, no conflictsVCV000189077
87.
GRCh37:
Chr5:149357674
GRCh38:
Chr5:149978111
SLC26A2Achondrogenesis, type IB, Diastrophic dysplasia, Atelosteogenesis type II,
Multiple epiphyseal dysplasia type 4
Likely benign
(Feb 22, 2019)
criteria provided, single submitterVCV001149814
88.
GRCh37:
Chr5:149357683
GRCh38:
Chr5:149978120
SLC26A2Achondrogenesis, type IB, not provided, Achondrogenesis, type IB,
Atelosteogenesis type II, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4
Benign/Likely benign
(Aug 23, 2021)
criteria provided, multiple submitters, no conflictsVCV000682371
89.
GRCh37:
Chr5:149357688
GRCh38:
Chr5:149978125
SLC26A2R158HAchondrogenesis, type IBUncertain significance
(Nov 7, 2019)
criteria provided, single submitterVCV001028073
90.
GRCh37:
Chr5:149357689
GRCh38:
Chr5:149978126
SLC26A2Achondrogenesis, type IB, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4,
Atelosteogenesis type II, Achondrogenesis, type IB
Likely benign
(Nov 26, 2020)
criteria provided, single submitterVCV000726517
91.
GRCh37:
Chr5:149357698-149357699
GRCh38:
Chr5:149978135-149978136
SLC26A2V162fsDiastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Multiple epiphyseal dysplasia type 4,
Diastrophic dysplasia, Achondrogenesis, type IB, Atelosteogenesis type II,
Achondrogenesis, type IB, Osteochondrodysplasia, Atelosteogenesis type II
Pathogenic/Likely pathogenic
(Sep 9, 2020)
criteria provided, multiple submitters, no conflictsVCV000371777
92.
GRCh37:
Chr5:149357711
GRCh38:
Chr5:149978148
SLC26A2G166RDiastrophic dysplasiaLikely pathogenicno assertion criteria providedVCV000056025
93.
GRCh37:
Chr5:149357714
GRCh38:
Chr5:149978151
SLC26A2V167fsMultiple epiphyseal dysplasia type 4Likely pathogenic
(Sep 16, 2017)
criteria provided, single submitterVCV000553875
94.
GRCh37:
Chr5:149357717
GRCh38:
Chr5:149978154
SLC26A2Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia, Achondrogenesis, type IB,
Atelosteogenesis type II, Achondrogenesis, type IB
Likely benign
(Feb 11, 2020)
criteria provided, single submitterVCV000989931
95.
GRCh37:
Chr5:149357740
GRCh38:
Chr5:149978177
SLC26A2Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB, Atelosteogenesis type II,
Diastrophic dysplasia
Likely benign
(Mar 10, 2020)
criteria provided, single submitterVCV001156129
96.
GRCh37:
Chr5:149357747
GRCh38:
Chr5:149978184
SLC26A2R178*Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4, SLC26A2-Related Disorders,
Osteochondrodysplasia, Achondrogenesis, type IB, not provided,
Achondrogenesis, type IB, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4,
Atelosteogenesis type II, Diastrophic dysplasia3MC syndrome 2,
...see more
Pathogenic
(Oct 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000004092
97.
GRCh37:
Chr5:149357748
GRCh38:
Chr5:149978185
SLC26A2R178QAchondrogenesis, type IB, Atelosteogenesis type II, Diastrophic dysplasia,
Multiple epiphyseal dysplasia type 4
Uncertain significance
(Aug 8, 2020)
criteria provided, single submitterVCV001027290
98.
GRCh37:
Chr5:149357756
GRCh38:
Chr5:149978193
SLC26A2Q181*Diastrophic dysplasia, Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4,
Atelosteogenesis type II
Likely pathogenic
(Mar 16, 2016)
criteria provided, single submitterVCV000371719
99.
GRCh37:
Chr5:149357788-149357791
GRCh38:
Chr5:149978225-149978228
SLC26A2Multiple epiphyseal dysplasia type 4Likely pathogenic
(Aug 24, 2017)
criteria provided, single submitterVCV000553407
100.
GRCh37:
Chr5:149357826
GRCh38:
Chr5:149978263
SLC26A2L204*Multiple epiphyseal dysplasia type 4Likely pathogenic
(Mar 14, 2018)
criteria provided, single submitterVCV000557257
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