1497[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1540891.	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 GRCh37: Chr17:525-14667519 GRCh38: Chr17:150732-14764202	ABR, ABR-AS1, ACADVL, ACAP1, ADPRM, AIPL1, ALOX12, ALOX12-AS1, ALOX12B, ALOX15, ALOX15B, ALOXE3, ANKFY1, ARHGAP44, ARHGAP44-AS1, ARHGEF15, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, AURKB, BCL6B, BHLHA9, BORCS6, C17orf100, C17orf107, C17orf114, C17orf49, C1QBP, CAMKK1, CAMTA2, CAMTA2-AS1, CCDC42, CCDC92B, CD68, CDRT15, CFAP52, CHD3, CHRNB1, CHRNE, CLDN7, CLEC10A, CLUH, CNTROB, COX10, COX10-DT, CRK, CTC1, CTDNEP1, CTNS, CTNS-AS1, CXCL16, CYB5D1, CYB5D2, DERL2, DHRS7C, DHX33, DHX33-DT, DLG4, DNAH2, DNAH9, DOC2B, DPH1, DVL2, EFNB3, EIF4A1, EIF5A, ELAC2, ELP5, EMC6, ENO3, FBXO39, FGF11, FXR2, GABARAP, GAS7, GEMIN4, GGT6, GLOD4, GLP2R, GLTPD2, GP1BA, GPS2, GSG1L2, GUCY2D, HASPIN, HES7, HIC1, HS3ST3A1, HS3ST3B1, INCA1, INPP5K, ITGAE, KCNAB3, KCTD11, KDM6B, KIAA0753, KIF1C, KIF1C-AS1, KRBA2, LIAT1, LINC00324, LINC00670, LINC01975, LINC01996, LINC02091, LINC02093, LOC100128288, LOC100288728, LOC101927727, LOC101927839, LOC101927911, LOC101928266, LOC105371430, LOC105371485, LOC105371592, LOC105943586, LOC106794092, LOC106799838, LOC107984973, LOC107988047, LOC108254670, LOC110120951, LOC110121369, LOC110121380, LOC111413025, LOC111556120, LOC111828490, LOC112529892, LOC112529893, LOC112529894, LOC112529895, LOC112529901, LOC112529915, LOC112533656, LOC112533657, LOC112533664, LOC112533665, LOC112533683, LOC112533684, LOC112533685, LOC114827863, LOC116276454, LOC121587568, LOC121587569, LOC121587570, LOC121587571, LOC121587572, LOC121587573, LOC121587574, LOC121587575, LOC121848002, LOC121848003, LOC121848004, LOC121848005, LOC121848006, LOC121852920, LOC121852921, LOC121852922, LOC121852923, LOC122526780, LOC124904106, LOC125177398, LOC125177399, LOC125177400, LOC125177401, LOC125177403, LOC125177404, LOC125177405, LOC125177406, LOC125177407, LOC125177408, LOC125177409, LOC125177410, LOC125177411, LOC125177412, LOC125177414, LOC125177415, LOC125177416, LOC125177418, LOC125177419, LOC125177420, LOC125177421, LOC125177425, LOC126862454, LOC126862455, LOC126862456, LOC126862457, LOC126862458, LOC126862459, LOC126862460, LOC126862461, LOC126862462, LOC126862463, LOC126862464, LOC126862465, LOC126862466, LOC126862467, LOC126862468, LOC126862469, LOC126862470, LOC126862471, LOC126862472, LOC126862473, LOC126862474, LOC126862475, LOC126862476, LOC126862477, LOC126862478, LOC126862479, LOC126862480, LOC126862481, LOC126862482, LOC126862483, LOC126862484, LOC126862485, LOC126862486, LOC126862487, LOC126862488, LOC126862489, LOC126862490, LOC126862491, LOC126862492, LOC126862493, LOC126862494, LOC126862495, LOC126862496, LOC126862497, LOC126862498, LOC126862499, LOC126862500, LOC126862501, LOC126862502, LOC126862503, LOC126862504, LOC126862505, LOC126862506, LOC126862507, LOC126862508, LOC126862509, LOC126862510, LOC126862511, LOC284009, LOC339166, LOC728392, MAP2K4, MED11, MED31, METTL16, MFSD6L, MGC12916, MINK1, MIR1253, MIR1269B, MIR132, MIR195, MIR212, MIR22, MIR22HG, MIR3183, MIR324, MIR4314, MIR4520-1, MIR4520-2, MIR4521, MIR497, MIR497HG, MIR548H3, MIR6776, MIR6864, MIR6865, MIR6883, MIR744, MIS12, MNT, MPDU1, MPDU1-AS1, MRM3, MYBBP1A, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYHAS, MYO1C, MYOCD, MYOCD-AS1, NAA38, NCBP3, NDEL1, NEURL4, NLGN2, NLRP1, NTN1, NUP88, NXN, ODF4, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, OVCA2, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, PELP1, PELP1-DT, PER1, PFAS, PFN1, PHF23, PIK3R5, PIK3R5-DT, PIK3R6, PIMREG, PIRT, PITPNA, PITPNA-AS1, PITPNM3, PLD2, PLSCR3, POLR2A, PRPF8, PSMB6, RABEP1, RANGRF, RAP1GAP2, RCVRN, RFLNB, RILP, RNASEK, RNASEK-C17orf49, RNF167, RNF222, RNF227, RPA1, RPAIN, RPH3AL, RPH3AL-AS1, RPL26, RTN4RL1, SAT2, SCARF1, SCARNA21, SCIMP, SCO1, SENP3, SENP3-EIF4A1, SERPINF1, SERPINF2, SGSM2, SHBG, SHISA6, SHPK, SLC13A5, SLC16A11, SLC16A13, SLC25A11, SLC25A35, SLC2A4, SLC35G6, SLC43A2, SLC52A1, SMG6, SMTNL2, SMYD4, SNORA48, SNORA67, SNORD10, SNORD118, SNORD91A, SNORD91B, SOX15, SPAG7, SPATA22, SPDYE4, SPEM1, SPEM2, SPEM3, SPNS2, SPNS3, SRR, STX8, TAX1BP3, TEKT1, TIMM22, TLCD2, TLCD3A, TM4SF5, TMEM102, TMEM107, TMEM220, TMEM220-AS1, TMEM238L, TMEM256, TMEM256-PLSCR3, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TRI-AAT4-1, TP53, TRAPPC1, TRARG1, TRD-GTC2-11, TRG-GCC2-6, TRG-TCC3-1, TRI-AAT5-5, TRK-TTT3-5, TRL-TAG1-1, TRP-CGG1-3, TRPV1, TRPV3, TRQ-CTG1-5, TRR-TCT2-1, TRS-AGA2-6, TRS-CGA1-1, TRS-GCT4-3, TRT-AGT1-1, TRT-AGT1-2, TRT-AGT5-1, TRW-CCA1-1, TRW-CCA3-3, TSR1, TXNDC17, UBE2G1, USP43, USP6, VAMP2, VMO1, VPS53, WDR81, WRAP53, WSCD1, XAF1, YBX2, YWHAE, ZBTB4, ZFP3, ZMYND15, ZNF18, ZNF232, ZNF232-AS1, ZNF594, ZNF594-DT, ZZEF1		See cases	Pathogenic (Mar 10, 2014)	no assertion criteria provided
Select item 1531772.	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 GRCh37: Chr17:525-5838697 GRCh38: Chr17:150732-5935377	ABR, ABR-AS1, ALOX15, ANKFY1, ARRB2, ASPA, ATP2A3, BHLHA9, C17orf107, C17orf114, C1QBP, CAMKK1, CAMTA2, CAMTA2-AS1, CCDC92B, CHRNE, CLUH, CRK, CTNS, CTNS-AS1, CXCL16, CYB5D2, DERL2, DHX33, DHX33-DT, DOC2B, DPH1, EMC6, ENO3, GEMIN4, GGT6, GLOD4, GLTPD2, GP1BA, HASPIN, HIC1, INCA1, INPP5K, ITGAE, KIF1C, KIF1C-AS1, LIAT1, LINC01975, LINC01996, LINC02091, LOC100288728, LOC101927727, LOC101927839, LOC101927911, LOC105371430, LOC105371485, LOC105371592, LOC106799838, LOC107984973, LOC107988047, LOC110120951, LOC110121369, LOC111413025, LOC112529892, LOC112529893, LOC112529901, LOC112529915, LOC121587568, LOC121587569, LOC121587570, LOC121587571, LOC121848002, LOC121848003, LOC121848004, LOC121848005, LOC121848006, LOC125177398, LOC125177399, LOC125177400, LOC125177401, LOC125177403, LOC125177404, LOC125177405, LOC125177406, LOC125177407, LOC125177408, LOC125177409, LOC125177410, LOC126862454, LOC126862455, LOC126862456, LOC126862457, LOC126862458, LOC126862459, LOC126862460, LOC126862461, LOC126862462, LOC126862463, LOC126862464, LOC126862465, LOC126862466, LOC126862467, LOC126862468, LOC126862469, LOC126862470, LOC126862471, LOC126862472, LOC126862473, LOC126862474, LOC126862475, LOC126862476, LOC284009, LOC339166, LOC728392, MED11, METTL16, MINK1, MIR1253, MIR132, MIR212, MIR22, MIR22HG, MIR3183, MIR6776, MIR6864, MIR6865, MIS12, MNT, MRM3, MYBBP1A, MYO1C, NCBP3, NLRP1, NUP88, NXN, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, OVCA2, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, PELP1, PELP1-DT, PFN1, PITPNA, PITPNA-AS1, PLD2, PRPF8, PSMB6, RABEP1, RAP1GAP2, RFLNB, RILP, RNF167, RPA1, RPAIN, RPH3AL, RPH3AL-AS1, RTN4RL1, SCARF1, SCIMP, SERPINF1, SERPINF2, SGSM2, SHPK, SLC25A11, SLC43A2, SLC52A1, SMG6, SMTNL2, SMYD4, SNORD91A, SNORD91B, SPAG7, SPATA22, SPNS2, SPNS3, SRR, TAX1BP3, TIMM22, TLCD2, TLCD3A, TM4SF5, TRARG1, TRPV1, TRPV3, TSR1, UBE2G1, USP6, VMO1, VPS53, WDR81, YWHAE, ZFP3, ZMYND15, ZNF232, ZNF232-AS1, ZNF594, ZNF594-DT, ZZEF1		See cases	Pathogenic (Apr 23, 2013)	no assertion criteria provided
Select item 1495313.	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 GRCh37: Chr17:45835-12247218 GRCh38: Chr17:162016-12343901	ABR, ABR-AS1, ACADVL, ACAP1, ADPRM, AIPL1, ALOX12, ALOX12-AS1, ALOX12B, ALOX15, ALOX15B, ALOXE3, ANKFY1, ARHGEF15, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, AURKB, BCL6B, BHLHA9, BORCS6, C17orf100, C17orf107, C17orf114, C17orf49, C1QBP, CAMKK1, CAMTA2, CAMTA2-AS1, CCDC42, CCDC92B, CD68, CFAP52, CHD3, CHRNB1, CHRNE, CLDN7, CLEC10A, CLUH, CNTROB, CRK, CTC1, CTDNEP1, CTNS, CTNS-AS1, CXCL16, CYB5D1, CYB5D2, DERL2, DHRS7C, DHX33, DHX33-DT, DLG4, DNAH2, DNAH9, DOC2B, DPH1, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, EMC6, ENO3, FBXO39, FGF11, FXR2, GABARAP, GAS7, GEMIN4, GGT6, GLOD4, GLP2R, GLTPD2, GP1BA, GPS2, GSG1L2, GUCY2D, HASPIN, HES7, HIC1, INCA1, INPP5K, ITGAE, KCNAB3, KCTD11, KDM6B, KIAA0753, KIF1C, KIF1C-AS1, KRBA2, LIAT1, LINC00324, LINC01975, LINC01996, LINC02091, LOC100128288, LOC100288728, LOC101927727, LOC101927839, LOC101927911, LOC101928266, LOC105371430, LOC105371485, LOC105371592, LOC106794092, LOC106799838, LOC107984973, LOC107988047, LOC108254670, LOC110120951, LOC110121369, LOC111413025, LOC111556120, LOC111828490, LOC112529892, LOC112529893, LOC112529894, LOC112529895, LOC112529901, LOC112529915, LOC112533656, LOC112533657, LOC112533664, LOC112533665, LOC112533683, LOC112533684, LOC112533685, LOC114827863, LOC116276454, LOC121587568, LOC121587569, LOC121587570, LOC121587571, LOC121587572, LOC121587573, LOC121587574, LOC121587575, LOC121848002, LOC121848003, LOC121848004, LOC121848005, LOC121848006, LOC121852920, LOC121852921, LOC121852922, LOC121852923, LOC122526780, LOC124904106, LOC125177398, LOC125177399, LOC125177400, LOC125177401, LOC125177403, LOC125177404, LOC125177405, LOC125177406, LOC125177407, LOC125177408, LOC125177409, LOC125177410, LOC125177411, LOC125177412, LOC125177414, LOC125177415, LOC125177416, LOC125177418, LOC125177419, LOC126862454, LOC126862455, LOC126862456, LOC126862457, LOC126862458, LOC126862459, LOC126862460, LOC126862461, LOC126862462, LOC126862463, LOC126862464, LOC126862465, LOC126862466, LOC126862467, LOC126862468, LOC126862469, LOC126862470, LOC126862471, LOC126862472, LOC126862473, LOC126862474, LOC126862475, LOC126862476, LOC126862477, LOC126862478, LOC126862479, LOC126862480, LOC126862481, LOC126862482, LOC126862483, LOC126862484, LOC126862485, LOC126862486, LOC126862487, LOC126862488, LOC126862489, LOC126862490, LOC126862491, LOC126862492, LOC126862493, LOC126862494, LOC126862495, LOC126862496, LOC126862497, LOC126862498, LOC126862499, LOC126862500, LOC126862501, LOC126862502, LOC126862503, LOC126862504, LOC126862505, LOC126862506, LOC126862507, LOC284009, LOC339166, LOC728392, MAP2K4, MED11, MED31, METTL16, MFSD6L, MINK1, MIR1253, MIR132, MIR195, MIR212, MIR22, MIR22HG, MIR3183, MIR324, MIR4314, MIR4520-1, MIR4520-2, MIR4521, MIR497, MIR497HG, MIR6776, MIR6864, MIR6865, MIR6883, MIR744, MIS12, MNT, MPDU1, MPDU1-AS1, MRM3, MYBBP1A, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYHAS, MYO1C, NAA38, NCBP3, NDEL1, NEURL4, NLGN2, NLRP1, NTN1, NUP88, NXN, ODF4, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, OVCA2, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, PELP1, PELP1-DT, PER1, PFAS, PFN1, PHF23, PIK3R5, PIK3R5-DT, PIK3R6, PIMREG, PIRT, PITPNA, PITPNA-AS1, PITPNM3, PLD2, PLSCR3, POLR2A, PRPF8, PSMB6, RABEP1, RANGRF, RAP1GAP2, RCVRN, RFLNB, RILP, RNASEK, RNASEK-C17orf49, RNF167, RNF222, RNF227, RPA1, RPAIN, RPH3AL, RPH3AL-AS1, RPL26, RTN4RL1, SAT2, SCARF1, SCARNA21, SCIMP, SCO1, SENP3, SENP3-EIF4A1, SERPINF1, SERPINF2, SGSM2, SHBG, SHISA6, SHPK, SLC13A5, SLC16A11, SLC16A13, SLC25A11, SLC25A35, SLC2A4, SLC35G6, SLC43A2, SLC52A1, SMG6, SMTNL2, SMYD4, SNORA48, SNORA67, SNORD10, SNORD118, SNORD91A, SNORD91B, SOX15, SPAG7, SPATA22, SPDYE4, SPEM1, SPEM2, SPEM3, SPNS2, SPNS3, SRR, STX8, TAX1BP3, TEKT1, TIMM22, TLCD2, TLCD3A, TM4SF5, TMEM102, TMEM107, TMEM220, TMEM220-AS1, TMEM238L, TMEM256, TMEM256-PLSCR3, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TRI-AAT4-1, TP53, TRAPPC1, TRARG1, TRD-GTC2-11, TRG-GCC2-6, TRG-TCC3-1, TRI-AAT5-5, TRK-TTT3-5, TRL-TAG1-1, TRP-CGG1-3, TRPV1, TRPV3, TRQ-CTG1-5, TRR-TCT2-1, TRS-AGA2-6, TRS-CGA1-1, TRS-GCT4-3, TRT-AGT1-1, TRT-AGT1-2, TRT-AGT5-1, TRW-CCA1-1, TRW-CCA3-3, TSR1, TXNDC17, UBE2G1, USP43, USP6, VAMP2, VMO1, VPS53, WDR81, WRAP53, WSCD1, XAF1, YBX2, YWHAE, ZBTB4, ZFP3, ZMYND15, ZNF18, ZNF232, ZNF232-AS1, ZNF594, ZNF594-DT, ZZEF1		See cases	Pathogenic (Aug 27, 2012)	no assertion criteria provided
Select item 1491584.	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 GRCh37: Chr17:45835-7600330 GRCh38: Chr17:162016-7697012	ABR, ABR-AS1, ACADVL, ACAP1, AIPL1, ALOX12, ALOX12-AS1, ALOX15, ANKFY1, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, BCL6B, BHLHA9, C17orf100, C17orf107, C17orf114, C17orf49, C1QBP, CAMKK1, CAMTA2, CAMTA2-AS1, CCDC92B, CD68, CHRNB1, CHRNE, CLDN7, CLEC10A, CLUH, CRK, CTDNEP1, CTNS, CTNS-AS1, CXCL16, CYB5D2, DERL2, DHX33, DHX33-DT, DLG4, DOC2B, DPH1, DVL2, EIF4A1, EIF5A, ELP5, EMC6, ENO3, FBXO39, FGF11, FXR2, GABARAP, GEMIN4, GGT6, GLOD4, GLTPD2, GP1BA, GPS2, HASPIN, HIC1, INCA1, INPP5K, ITGAE, KCTD11, KIAA0753, KIF1C, KIF1C-AS1, LIAT1, LINC01975, LINC01996, LINC02091, LOC100288728, LOC101927727, LOC101927839, LOC101927911, LOC105371430, LOC105371485, LOC105371592, LOC106799838, LOC107984973, LOC107988047, LOC110120951, LOC110121369, LOC111413025, LOC111556120, LOC112529892, LOC112529893, LOC112529901, LOC112529915, LOC112533656, LOC112533657, LOC112533664, LOC121587568, LOC121587569, LOC121587570, LOC121587571, LOC121587572, LOC121587573, LOC121848002, LOC121848003, LOC121848004, LOC121848005, LOC121848006, LOC121852920, LOC122526780, LOC125177398, LOC125177399, LOC125177400, LOC125177401, LOC125177403, LOC125177404, LOC125177405, LOC125177406, LOC125177407, LOC125177408, LOC125177409, LOC125177410, LOC125177411, LOC125177412, LOC126862454, LOC126862455, LOC126862456, LOC126862457, LOC126862458, LOC126862459, LOC126862460, LOC126862461, LOC126862462, LOC126862463, LOC126862464, LOC126862465, LOC126862466, LOC126862467, LOC126862468, LOC126862469, LOC126862470, LOC126862471, LOC126862472, LOC126862473, LOC126862474, LOC126862475, LOC126862476, LOC126862477, LOC126862478, LOC126862479, LOC126862480, LOC126862481, LOC126862482, LOC126862483, LOC284009, LOC339166, LOC728392, MED11, MED31, METTL16, MINK1, MIR1253, MIR132, MIR195, MIR212, MIR22, MIR22HG, MIR3183, MIR324, MIR4520-1, MIR4520-2, MIR497, MIR497HG, MIR6776, MIR6864, MIR6865, MIS12, MNT, MPDU1, MPDU1-AS1, MRM3, MYBBP1A, MYO1C, NCBP3, NEURL4, NLGN2, NLRP1, NUP88, NXN, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, OVCA2, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, PELP1, PELP1-DT, PFN1, PHF23, PIMREG, PITPNA, PITPNA-AS1, PITPNM3, PLD2, PLSCR3, POLR2A, PRPF8, PSMB6, RABEP1, RAP1GAP2, RFLNB, RILP, RNASEK, RNASEK-C17orf49, RNF167, RPA1, RPAIN, RPH3AL, RPH3AL-AS1, RTN4RL1, SAT2, SCARF1, SCIMP, SENP3, SENP3-EIF4A1, SERPINF1, SERPINF2, SGSM2, SHBG, SHPK, SLC13A5, SLC16A11, SLC16A13, SLC25A11, SLC2A4, SLC35G6, SLC43A2, SLC52A1, SMG6, SMTNL2, SMYD4, SNORA48, SNORA67, SNORD10, SNORD91A, SNORD91B, SOX15, SPAG7, SPATA22, SPEM1, SPEM2, SPEM3, SPNS2, SPNS3, SRR, TAX1BP3, TEKT1, TIMM22, TLCD2, TLCD3A, TM4SF5, TMEM102, TMEM256, TMEM256-PLSCR3, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRARG1, TRPV1, TRPV3, TSR1, TXNDC17, UBE2G1, USP6, VMO1, VPS53, WDR81, WRAP53, WSCD1, XAF1, YBX2, ZNF594, YWHAE, ZBTB4, ZFP3, ZMYND15, ZNF232, ZNF232-AS1, ZNF594-DT, ZZEF1		See cases	Pathogenic (Mar 9, 2012)	no assertion criteria provided
Select item 1446995.	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 GRCh37: Chr17:45835-6862369 GRCh38: Chr17:162088-6959050	WDR81, WSCD1, XAF1, YWHAE, ZFP3, ZMYND15, ZNF232, ZNF232-AS1, ZNF594, ZNF594-DT, ZZEF1, ASPA, ABR, ABR-AS1, AIPL1, ALOX15, ANKFY1, ARRB2, ATP2A3, BHLHA9, C17orf100, C17orf107, C17orf114, C1QBP, CAMKK1, CAMTA2, CAMTA2-AS1, CCDC92B, CHRNE, CLUH, CRK, CTNS, CTNS-AS1, CXCL16, CYB5D2, DERL2, DHX33, DHX33-DT, DOC2B, DPH1, EMC6, ENO3, FBXO39, GEMIN4, GGT6, GLOD4, GLTPD2, GP1BA, HASPIN, HIC1, INCA1, INPP5K, ITGAE, KIAA0753, KIF1C, KIF1C-AS1, LIAT1, LINC01975, LINC01996, LINC02091, LOC100288728, LOC101927727, LOC101927839, LOC101927911, LOC105371430, LOC105371485, LOC105371592, LOC106799838, LOC107984973, LOC107988047, LOC110120951, LOC110121369, LOC111413025, LOC111556120, LOC112529892, LOC112529893, LOC112529901, LOC112529915, LOC112533656, LOC112533657, LOC121587568, LOC121587569, LOC121587570, LOC121587571, LOC121848002, LOC121848003, LOC121848004, LOC121848005, LOC121848006, LOC122526780, LOC125177398, LOC125177399, LOC125177400, LOC125177401, LOC125177403, LOC125177404, LOC125177405, LOC125177406, LOC125177407, LOC125177408, LOC125177409, LOC125177410, LOC125177411, LOC125177412, LOC126862454, LOC126862455, LOC126862456, LOC126862457, LOC126862458, LOC126862459, LOC126862460, LOC126862461, LOC126862462, LOC126862463, LOC126862464, LOC126862465, LOC126862466, LOC126862467, LOC126862468, LOC126862469, LOC126862470, LOC126862471, LOC126862472, LOC126862473, LOC126862474, LOC126862475, LOC126862476, LOC126862477, LOC284009, LOC339166, LOC728392, MED11, MED31, METTL16, MINK1, MIR1253, MIR132, MIR212, MIR22, MIR22HG, MIR3183, MIR4520-1, MIR4520-2, MIR6776, MIR6864, MIR6865, MIS12, MNT, MRM3, MYBBP1A, MYO1C, NCBP3, NLRP1, NUP88, NXN, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, OVCA2, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, PELP1, PELP1-DT, PFN1, PIMREG, PITPNA, PITPNA-AS1, PITPNM3, PLD2, PRPF8, PSMB6, RABEP1, RAP1GAP2, RFLNB, RILP, RNF167, RPA1, RPAIN, RPH3AL, RPH3AL-AS1, RTN4RL1, SCARF1, SCIMP, SERPINF1, SERPINF2, SGSM2, SHPK, SLC13A5, SLC25A11, SLC43A2, SLC52A1, SMG6, SMTNL2, SMYD4, SNORD91A, SNORD91B, SPAG7, SPATA22, SPNS2, SPNS3, SRR, TAX1BP3, TEKT1, TIMM22, TLCD2, TLCD3A, TM4SF5, TRARG1, TRPV1, TRPV3, TSR1, TXNDC17, UBE2G1, USP6, VMO1, VPS53		See cases	Pathogenic (Jun 30, 2010)	no assertion criteria provided
Select item 595426.	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 GRCh37: Chr17:45835-5555542 GRCh38: Chr17:193307-5652222	ABR, ABR-AS1, ALOX15, ANKFY1, ARRB2, ASPA, ATP2A3, BHLHA9, C17orf107, C17orf114, C1QBP, CAMKK1, CAMTA2, CAMTA2-AS1, CCDC92B, CHRNE, CLUH, CRK, CTNS, CTNS-AS1, CXCL16, CYB5D2, DERL2, DHX33, DHX33-DT, DPH1, EMC6, ENO3, GEMIN4, GGT6, GLOD4, GLTPD2, GP1BA, HASPIN, HIC1, INCA1, INPP5K, ITGAE, KIF1C, KIF1C-AS1, LIAT1, LINC01975, LINC01996, LOC100288728, LOC101927727, LOC101927839, LOC101927911, LOC105371430, LOC105371485, LOC105371592, LOC106799838, LOC107984973, LOC107988047, LOC110120951, LOC110121369, LOC111413025, LOC112529892, LOC112529893, LOC112529901, LOC112529915, LOC121587568, LOC121587569, LOC121587570, LOC121587571, LOC121848002, LOC121848003, LOC121848004, LOC121848005, LOC121848006, LOC125177398, LOC125177399, LOC125177400, LOC125177401, LOC125177403, LOC125177404, LOC125177405, LOC125177406, LOC125177407, LOC125177408, LOC125177409, LOC125177410, LOC126862454, LOC126862455, LOC126862456, LOC126862457, LOC126862458, LOC126862459, LOC126862460, LOC126862461, LOC126862462, LOC126862463, LOC126862464, LOC126862465, LOC126862466, LOC126862467, LOC126862468, LOC126862469, LOC126862470, LOC126862471, LOC126862472, LOC126862473, LOC126862474, LOC126862475, LOC284009, LOC728392, MED11, METTL16, MINK1, MIR1253, MIR132, MIR212, MIR22, MIR22HG, MIR3183, MIR6776, MIR6864, MIR6865, MIS12, MNT, MRM3, MYBBP1A, MYO1C, NCBP3, NLRP1, NUP88, NXN, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, OVCA2, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, PELP1, PELP1-DT, PFN1, PITPNA, PITPNA-AS1, PLD2, PRPF8, PSMB6, RABEP1, RAP1GAP2, RFLNB, RILP, RNF167, RPA1, RPAIN, RPH3AL, RPH3AL-AS1, RTN4RL1, SCARF1, SCIMP, SERPINF1, SERPINF2, SGSM2, SHPK, SLC25A11, SLC43A2, SLC52A1, SMG6, SMTNL2, SMYD4, SNORD91A, SNORD91B, SPAG7, SPATA22, SPNS2, SPNS3, SRR, TAX1BP3, TIMM22, TLCD2, TLCD3A, TM4SF5, TRARG1, TRPV1, TRPV3, TSR1, UBE2G1, USP6, VMO1, VPS53, WDR81, YWHAE, ZFP3, ZMYND15, ZNF232, ZNF232-AS1, ZNF594, ZNF594-DT, ZZEF1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1543737.	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1 GRCh37: Chr17:50690-4168935 GRCh38: Chr17:198748-4265640	ABR, ABR-AS1, ANKFY1, ASPA, ATP2A3, BHLHA9, CAMKK1, CCDC92B, CLUH, CRK, CTNS, CTNS-AS1, CYB5D2, DPH1, EMC6, GEMIN4, GLOD4, HASPIN, HIC1, INPP5K, ITGAE, LIAT1, LINC01975, LOC100288728, LOC101927727, LOC101927839, LOC101927911, LOC105371430, LOC105371485, LOC105371592, LOC106799838, LOC107988047, LOC110120951, LOC110121369, LOC111413025, LOC112529892, LOC112529893, LOC112529901, LOC121587568, LOC121587569, LOC121587570, LOC121848002, LOC121848003, LOC121848004, LOC121848005, LOC121848006, LOC125177398, LOC125177399, LOC125177400, LOC125177401, LOC125177403, LOC125177404, LOC125177405, LOC125177406, LOC126862454, LOC126862455, LOC126862456, LOC126862457, LOC126862458, LOC126862459, LOC126862460, LOC126862461, LOC126862462, LOC126862463, LOC126862464, LOC126862465, LOC126862466, LOC284009, METTL16, MIR1253, MIR132, MIR212, MIR22, MIR22HG, MIR3183, MIR6776, MNT, MRM3, MYO1C, NCBP3, NXN, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, OVCA2, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, PITPNA, PITPNA-AS1, PRPF8, RAP1GAP2, RFLNB, RILP, RPA1, RPH3AL, RPH3AL-AS1, RTN4RL1, SCARF1, SERPINF1, SERPINF2, SGSM2, SHPK, SLC43A2, SMG6, SMYD4, SNORD91A, SNORD91B, SPATA22, SRR, TAX1BP3, TIMM22, TLCD2, TLCD3A, TRARG1, TRPV1, TRPV3, TSR1, VPS53, WDR81, YWHAE, ZZEF1		See cases	Pathogenic (Aug 18, 2010)	no assertion criteria provided
Select item 1456428.	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 GRCh37: Chr17:50690-7394448 GRCh38: Chr17:198748-7491129	ABR, ABR-AS1, ACADVL, ACAP1, AIPL1, ALOX12, ALOX12-AS1, ALOX15, ANKFY1, ARRB2, ASGR1, ASGR2, ASPA, ATP2A3, BCL6B, BHLHA9, C17orf100, C17orf107, C17orf114, C17orf49, C1QBP, CAMKK1, CAMTA2, CAMTA2-AS1, CCDC92B, CHRNB1, CHRNE, CLDN7, CLEC10A, CLUH, CRK, CTDNEP1, CTNS, CTNS-AS1, CXCL16, CYB5D2, DERL2, DHX33, DHX33-DT, DLG4, DPH1, DVL2, EIF5A, ELP5, EMC6, ENO3, FBXO39, FGF11, GABARAP, GEMIN4, GGT6, GLOD4, GLTPD2, GP1BA, GPS2, HASPIN, HIC1, INCA1, INPP5K, ITGAE, KCTD11, KIAA0753, KIF1C, KIF1C-AS1, LIAT1, LINC01975, LINC01996, LOC100288728, LOC101927727, LOC101927839, LOC101927911, LOC105371430, LOC105371485, LOC105371592, LOC106799838, LOC107984973, LOC107988047, LOC110120951, LOC110121369, LOC111413025, LOC111556120, LOC112529892, LOC112529893, LOC112529901, LOC112529915, LOC112533656, LOC112533657, LOC112533664, LOC121587568, LOC121587569, LOC121587570, LOC121587571, LOC121587572, LOC121587573, LOC121848002, LOC121848003, LOC121848004, LOC121848005, LOC121848006, LOC121852920, LOC122526780, LOC125177398, LOC125177399, LOC125177400, LOC125177401, LOC125177403, LOC125177404, LOC125177405, LOC125177406, LOC125177407, LOC125177408, LOC125177409, LOC125177410, LOC125177411, LOC125177412, LOC126862454, LOC126862455, LOC126862456, LOC126862457, LOC126862458, LOC126862459, LOC126862460, LOC126862461, LOC126862462, LOC126862463, LOC126862464, LOC126862465, LOC126862466, LOC126862467, LOC126862468, LOC126862469, LOC126862470, LOC126862471, LOC126862472, LOC126862473, LOC126862474, LOC126862475, LOC126862476, LOC126862477, LOC126862478, LOC126862479, LOC126862480, LOC284009, LOC339166, LOC728392, MED11, MED31, METTL16, MINK1, MIR1253, MIR132, MIR195, MIR212, MIR22, MIR22HG, MIR3183, MIR324, MIR4520-1, MIR4520-2, MIR497, MIR497HG, MIR6776, MIR6864, MIR6865, MIS12, MNT, MRM3, MYBBP1A, MYO1C, NCBP3, NEURL4, NLGN2, NLRP1, NUP88, NXN, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, OVCA2, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, PELP1, PELP1-DT, PFN1, PHF23, PIMREG, PITPNA, PITPNA-AS1, PITPNM3, PLD2, PLSCR3, POLR2A, PRPF8, PSMB6, RABEP1, RAP1GAP2, RFLNB, RILP, RNASEK, RNASEK-C17orf49, RNF167, RPA1, RPAIN, RPH3AL, RPH3AL-AS1, RTN4RL1, SCARF1, SCIMP, SERPINF1, SERPINF2, SGSM2, SHPK, SLC13A5, SLC16A11, SLC16A13, SLC25A11, SLC2A4, SLC35G6, SLC43A2, SLC52A1, SMG6, SMTNL2, SMYD4, SNORD91A, SNORD91B, SPAG7, SPATA22, SPEM1, SPEM2, SPEM3, SPNS2, SPNS3, SRR, TAX1BP3, TEKT1, TIMM22, TLCD2, TLCD3A, TM4SF5, TMEM102, TMEM256, TMEM256-PLSCR3, TMEM95, TNK1, TRARG1, TRPV1, TRPV3, TSR1, TXNDC17, UBE2G1, USP6, VMO1, VPS53, WDR81, WSCD1, XAF1, YBX2, YWHAE, ZBTB4, ZFP3, ZMYND15, ZNF232, ZNF232-AS1, ZNF594, ZNF594-DT, ZZEF1		See cases	Pathogenic (Jan 5, 2011)	no assertion criteria provided
Select item 1465949.	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1 GRCh37: Chr17:396627-3558393 GRCh38: Chr17:226472-3655099	ABR, ABR-AS1, ASPA, BHLHA9, CCDC92B, CLUH, CRK, CTNS, CTNS-AS1, DPH1, GEMIN4, GLOD4, HIC1, INPP5K, LIAT1, LOC100288728, LOC101927727, LOC101927839, LOC101927911, LOC105371430, LOC105371485, LOC105371592, LOC107988047, LOC110120951, LOC110121369, LOC111413025, LOC112529892, LOC112529893, LOC112529901, LOC121587568, LOC121587569, LOC121587570, LOC121848002, LOC121848003, LOC121848004, LOC125177398, LOC125177399, LOC125177400, LOC125177401, LOC125177403, LOC125177404, LOC125177405, LOC125177406, LOC126862454, LOC126862455, LOC126862456, LOC126862457, LOC126862458, LOC126862459, LOC126862460, LOC126862461, LOC126862462, LOC126862463, LOC126862464, LOC284009, METTL16, MIR1253, MIR132, MIR212, MIR22, MIR22HG, MIR3183, MIR6776, MNT, MRM3, MYO1C, NXN, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, OVCA2, PAFAH1B1, PITPNA, PITPNA-AS1, PRPF8, RAP1GAP2, RFLNB, RILP, RPA1, RPH3AL, RPH3AL-AS1, RTN4RL1, SCARF1, SERPINF1, SERPINF2, SGSM2, SHPK, SLC43A2, SMG6, SMYD4, SNORD91A, SNORD91B, SPATA22, SRR, TIMM22, TLCD2, TLCD3A, TRARG1, TRPV1, TRPV3, TSR1, VPS53, WDR81, YWHAE		See cases	Pathogenic (Oct 19, 2010)	no assertion criteria provided
Select item 15306010.	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1 GRCh37: Chr17:396627-4638828 GRCh38: Chr17:237248-4735533	ABR, ABR-AS1, ALOX15, ANKFY1, ARRB2, ASPA, ATP2A3, BHLHA9, CAMKK1, CCDC92B, CLUH, CRK, CTNS, CTNS-AS1, CXCL16, CYB5D2, DPH1, EMC6, GEMIN4, GGT6, GLOD4, HASPIN, HIC1, INPP5K, ITGAE, LIAT1, LINC01975, LINC01996, LOC100288728, LOC101927727, LOC101927839, LOC101927911, LOC105371430, LOC105371485, LOC105371592, LOC106799838, LOC107988047, LOC110120951, LOC110121369, LOC111413025, LOC112529892, LOC112529893, LOC112529901, LOC121587568, LOC121587569, LOC121587570, LOC121587571, LOC121848002, LOC121848003, LOC121848004, LOC121848005, LOC121848006, LOC125177398, LOC125177399, LOC125177400, LOC125177401, LOC125177403, LOC125177404, LOC125177405, LOC125177406, LOC125177407, LOC126862454, LOC126862455, LOC126862456, LOC126862457, LOC126862458, LOC126862459, LOC126862460, LOC126862461, LOC126862462, LOC126862463, LOC126862464, LOC126862465, LOC126862466, LOC126862467, LOC126862468, LOC126862469, LOC284009, MED11, METTL16, MIR1253, MIR132, MIR212, MIR22, MIR22HG, MIR3183, MIR6776, MNT, MRM3, MYBBP1A, MYO1C, NCBP3, NXN, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, OVCA2, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, PELP1, PELP1-DT, PITPNA, PITPNA-AS1, PRPF8, RAP1GAP2, RFLNB, RILP, RPA1, RPH3AL, RPH3AL-AS1, RTN4RL1, SCARF1, SERPINF1, SERPINF2, SGSM2, SHPK, SLC43A2, SMG6, SMTNL2, SMYD4, SNORD91A, SNORD91B, SPATA22, SPNS2, SPNS3, SRR, TAX1BP3, TIMM22, TLCD2, TLCD3A, TRARG1, TRPV1, TRPV3, TSR1, UBE2G1, VPS53, WDR81, YWHAE, ZZEF1		See cases	Pathogenic (Feb 6, 2013)	no assertion criteria provided
Select item 14423911.	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1 GRCh37: Chr17:1965674-5161635 GRCh38: Chr17:2062380-5258340	ALOX15, ANKFY1, ARRB2, ASPA, ATP2A3, C17orf107, C17orf114, CAMKK1, CAMTA2, CAMTA2-AS1, CCDC92B, CHRNE, CLUH, CTNS, CTNS-AS1, CXCL16, CYB5D2, EMC6, ENO3, GGT6, GLTPD2, GP1BA, HASPIN, HIC1, INCA1, ITGAE, KIF1C, KIF1C-AS1, LINC01975, LINC01996, LOC100288728, LOC101927839, LOC101927911, LOC105371592, LOC106799838, LOC107984973, LOC107988047, LOC110120951, LOC110121369, LOC111413025, LOC112529915, LOC121587570, LOC121587571, LOC121848005, LOC121848006, LOC125177406, LOC125177407, LOC125177408, LOC125177409, LOC125177410, LOC126862460, LOC126862461, LOC126862462, LOC126862463, LOC126862464, LOC126862465, LOC126862466, LOC126862467, LOC126862468, LOC126862469, LOC126862470, LOC126862471, LOC126862472, LOC126862473, LOC284009, MED11, METTL16, MINK1, MIR1253, MIR6776, MIR6864, MIR6865, MNT, MYBBP1A, NCBP3, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, PELP1, PELP1-DT, PFN1, PLD2, PSMB6, RAP1GAP2, RNF167, SCIMP, SGSM2, SHPK, SLC25A11, SLC52A1, SMG6, SMTNL2, SNORD91A, SNORD91B, SPAG7, SPATA22, SPNS2, SPNS3, SRR, TAX1BP3, TM4SF5, TRPV1, TRPV3, TSR1, UBE2G1, USP6, VMO1, ZFP3, ZMYND15, ZNF232, ZNF232-AS1, ZNF594, ZNF594-DT, ZZEF1		See cases	Pathogenic (May 27, 2010)	no assertion criteria provided
Select item 15094812.	GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3 GRCh37: Chr17:1965723-4045177 GRCh38: Chr17:2062429-4141883	ASPA, ATP2A3, CAMKK1, CCDC92B, CLUH, CTNS, CTNS-AS1, EMC6, HASPIN, HIC1, ITGAE, LINC01975, LOC100288728, LOC101927839, LOC101927911, LOC105371592, LOC106799838, LOC107988047, LOC110120951, LOC110121369, LOC111413025, LOC121587570, LOC121848005, LOC121848006, LOC125177406, LOC126862460, LOC126862461, LOC126862462, LOC126862463, LOC126862464, LOC126862465, LOC284009, METTL16, MIR1253, MIR6776, MNT, NCBP3, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, RAP1GAP2, SGSM2, SHPK, SMG6, SNORD91A, SNORD91B, SPATA22, SRR, TAX1BP3, TRPV1, TRPV3, TSR1, ZZEF1		See cases	Pathogenic (Sep 21, 2012)	no assertion criteria provided
Select item 5867713.	GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3 GRCh37: Chr17:2260361-4231721 GRCh38: Chr17:2357067-4328426	ANKFY1, ASPA, ATP2A3, CAMKK1, CCDC92B, CLUH, CTNS, CTNS-AS1, CYB5D2, EMC6, HASPIN, ITGAE, LINC01975, LOC100288728, LOC101927911, LOC105371592, LOC106799838, LOC111413025, LOC121848005, LOC121848006, LOC125177406, LOC126862462, LOC126862463, LOC126862464, LOC126862465, LOC126862466, LOC284009, METTL16, MIR1253, MIR6776, MNT, NCBP3, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, RAP1GAP2, SGSM2, SHPK, SPATA22, TAX1BP3, TRPV1, TRPV3, UBE2G1, ZZEF1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 6009914.	GRCh38/hg38 17p13.3-13.2(chr17:3036729-3684667)x3 GRCh37: Chr17:2940023-3587961 GRCh38: Chr17:3036729-3684667	ASPA, CTNS, CTNS-AS1, EMC6, LOC100288728, LOC126862463, LOC126862464, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, P2RX5, P2RX5-TAX1BP3, RAP1GAP2, SHPK, SPATA22, TAX1BP3, TRPV1, TRPV3		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 14825615.	GRCh38/hg38 17p13.3-13.2(chr17:3102273-3667053)x3 GRCh37: Chr17:3005567-3570347 GRCh38: Chr17:3102273-3667053	ASPA, CTNS, CTNS-AS1, LOC100288728, LOC126862463, LOC126862464, OR1A1, OR1A2, OR1D2, OR1D4, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, P2RX5-TAX1BP3, SHPK, SPATA22, TAX1BP3, TRPV1, TRPV3		See cases	Uncertain significance (Aug 5, 2011)	no assertion criteria provided
Select item 15554316.	GRCh38/hg38 17p13.3-13.2(chr17:3168370-3852982)x3 GRCh37: Chr17:3071664-3756276 GRCh38: Chr17:3168370-3852982	ASPA, CTNS, CTNS-AS1, EMC6, HASPIN, ITGAE, LOC100288728, LOC106799838, LOC121848005, LOC126862463, LOC126862464, NCBP3, OR1A1, OR1A2, OR1D4, OR1E1, OR1E2, OR1R1P, OR3A1, OR3A2, OR3A3, P2RX5, P2RX5-TAX1BP3, SHPK, SPATA22, TAX1BP3, TRPV1, TRPV3		See cases	Likely benign (Oct 21, 2014)	no assertion criteria provided
Select item 15380617.	GRCh38/hg38 17p13.3-13.2(chr17:3168370-3862518)x3 GRCh37: Chr17:3071664-3765812 GRCh38: Chr17:3168370-3862518	ASPA, CAMKK1, CTNS, CTNS-AS1, EMC6, HASPIN, ITGAE, LOC100288728, LOC106799838, LOC121848005, LOC126862463, LOC126862464, NCBP3, OR1A1, OR1A2, OR1D4, OR1E1, OR1E2, OR1R1P, OR3A1, OR3A2, OR3A3, P2RX5, P2RX5-TAX1BP3, SHPK, SPATA22, TAX1BP3, TRPV1, TRPV3		See cases	Uncertain significance (Sep 18, 2013)	no assertion criteria provided
Select item 15472618.	GRCh38/hg38 17p13.3-13.2(chr17:3187406-3880628)x3 GRCh37: Chr17:3090700-3783922 GRCh38: Chr17:3187406-3880628	ASPA, CAMKK1, CTNS, CTNS-AS1, EMC6, HASPIN, ITGAE, LOC106799838, LOC121848005, LOC121848006, LOC126862463, LOC126862464, NCBP3, OR1A1, OR1A2, OR1D4, OR1E1, OR1E2, OR1R1P, OR3A1, OR3A2, OR3A3, P2RX5, P2RX5-TAX1BP3, SHPK, SPATA22, TAX1BP3, TRPV1, TRPV3		See cases	Uncertain significance (Dec 10, 2012)	no assertion criteria provided
Select item 58352119.	NC_000017.11:g.(?_3489235)_(3729555_?)del GRCh37: Chr17:3392529-3632849 GRCh38: Chr17:3489235-3729555	ASPA, CTNS, CTNS-AS1, EMC6, HASPIN, ITGAE, LOC126862463, LOC126862464, P2RX5, P2RX5-TAX1BP3, SHPK, SPATA22, TAX1BP3, TRPV1, TRPV3		not provided, Spongy degeneration of central nervous system	Conflicting interpretations of pathogenicity (Sep 16, 2021)	criteria provided, conflicting interpretations
Select item 15093020.	GRCh38/hg38 17p13.2(chr17:3494418-3727880)x1 GRCh37: Chr17:3397712-3631174 GRCh38: Chr17:3494418-3727880	ASPA, CTNS, CTNS-AS1, EMC6, HASPIN, ITGAE, LOC126862463, LOC126862464, P2RX5, P2RX5-TAX1BP3, SHPK, SPATA22, TAX1BP3, TRPV1, TRPV3		See cases	conflicting data from submitters (Jan 25, 2013)	no assertion criteria provided
Select item 15454621.	GRCh38/hg38 17p13.2(chr17:3543809-3711347)x1 GRCh37: Chr17:3447103-3614641 GRCh38: Chr17:3543809-3711347	CTNS, CTNS-AS1, EMC6, LOC126862463, LOC126862464, P2RX5, P2RX5-TAX1BP3, SHPK, TAX1BP3, TRPV1, TRPV3		See cases	Uncertain significance (Nov 30, 2009)	no assertion criteria provided
Select item 5715022.	GRCh38/hg38 17p13.2(chr17:3543809-3658724)x3 GRCh37: Chr17:3447103-3562018 GRCh38: Chr17:3543809-3658724	CTNS, CTNS-AS1, LOC126862463, LOC126862464, SHPK, TRPV1, TRPV3		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 444523.	NC_000017.11:g.3600934_3658165del GRCh37: Chr17:3504228-3561459 GRCh38: Chr17:3600934-3658165	CTNS, CTNS-AS1, LOC126862464, SHPK, TRPV1		Nephropathic cystinosis	Pathogenic	criteria provided, single submitter
Select item 18912524.	NM_080704.4(TRPV1):c.-34+7395T>C GRCh37: Chr17:3504326 GRCh38: Chr17:3601032	CTNS, TRPV1		Nephropathic cystinosis	Benign (Jan 14, 2015)	criteria provided, single submitter
Select item 5956325.	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 GRCh37: Chr17:3504809-7081343 GRCh38: Chr17:3601515-7178024	AIPL1, ALOX12, ALOX12-AS1, ALOX15, ANKFY1, ARRB2, ASGR1, ASGR2, ATP2A3, BCL6B, C17orf100, C17orf107, C17orf114, C17orf49, C1QBP, CAMKK1, CAMTA2, CAMTA2-AS1, CHRNE, CLEC10A, CTNS, CTNS-AS1, CXCL16, CYB5D2, DERL2, DHX33, DHX33-DT, EMC6, ENO3, FBXO39, GGT6, GLTPD2, GP1BA, HASPIN, INCA1, ITGAE, KIAA0753, KIF1C, KIF1C-AS1, LINC01975, LINC01996, LOC106799838, LOC107984973, LOC111556120, LOC112529915, LOC112533656, LOC112533657, LOC121587571, LOC121587572, LOC121848005, LOC121848006, LOC122526780, LOC125177407, LOC125177408, LOC125177409, LOC125177410, LOC125177411, LOC125177412, LOC126862464, LOC126862465, LOC126862466, LOC126862467, LOC126862468, LOC126862469, LOC126862470, LOC126862471, LOC126862472, LOC126862473, LOC126862474, LOC126862475, LOC126862476, LOC126862477, LOC126862478, LOC339166, LOC728392, MED11, MED31, MINK1, MIR195, MIR4520-1, MIR4520-2, MIR497, MIR497HG, MIR6864, MIR6865, MIS12, MYBBP1A, NCBP3, NLRP1, NUP88, P2RX1, P2RX5, P2RX5-TAX1BP3, PELP1, PELP1-DT, PFN1, PIMREG, PITPNM3, PLD2, PSMB6, RABEP1, RNASEK, RNASEK-C17orf49, RNF167, RPAIN, SCIMP, SHPK, SLC13A5, SLC16A11, SLC16A13, SLC25A11, SLC52A1, SMTNL2, SPAG7, SPNS2, SPNS3, TAX1BP3, TEKT1, TM4SF5, TRPV1, TXNDC17, UBE2G1, USP6, VMO1, WSCD1, XAF1, ZFP3, ZMYND15, ZNF232, ZNF232-AS1, ZNF594, ZNF594-DT, ZZEF1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 15737426.	Single allele GRCh37: Chr17:3506043-3582239 GRCh38: Chr17:3602749-3678945	CTNS, CTNS-AS1, EMC6, LOC126862464, P2RX5, P2RX5-TAX1BP3, SHPK, TAX1BP3, TRPV1		Normal pregnancy	not provided	no assertion provided
Select item 15150227.	GRCh38/hg38 17p13.2(chr17:3624551-3655040)x1 GRCh37: Chr17:3527845-3558334 GRCh38: Chr17:3624551-3655040	LOC126862464, SHPK, CTNS, CTNS-AS1		See cases	Benign (Apr 30, 2011)	no assertion criteria provided
Select item 126350428.	Single allele GRCh37: Chr17:3539581 GRCh38: Chr17:3636287	CTNS		not provided	Benign (Jun 24, 2021)	criteria provided, single submitter
Select item 125959529.	Single allele GRCh37: Chr17:3539627 GRCh38: Chr17:3636333	CTNS		not provided	Benign (Oct 5, 2018)	criteria provided, single submitter
Select item 99002530.	NM_004937.3(CTNS):c.-645C>T GRCh37: Chr17:3539710 GRCh38: Chr17:3636416	CTNS		Cystinosis	Uncertain significance (Apr 17, 2020)	no assertion criteria provided
Select item 99002631.	NM_004937.3(CTNS):c.-643G>A GRCh37: Chr17:3539712 GRCh38: Chr17:3636418	CTNS		Cystinosis	Uncertain significance (Apr 17, 2020)	no assertion criteria provided
Select item 65237532.	NC_000017.11:g.(?_3636418)_(3658185_?)del GRCh37: Chr17:3539712-3561479 GRCh38: Chr17:3636418-3658185	CTNS, CTNS-AS1		Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Pathogenic (Nov 2, 2022)	criteria provided, single submitter
Select item 52603333.	NC_000017.11:g.(?_3636418)_(3656815_?)del GRCh37: Chr17:3539712-3560109 GRCh38: Chr17:3636418-3656815	CTNS, CTNS-AS1		Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Pathogenic (Aug 18, 2017)	criteria provided, single submitter
Select item 45578634.	NC_000017.11:g.(?_3636418)_(3658195_?)del GRCh37: Chr17:3539712-3561489 GRCh38: Chr17:3636418-3658195	CTNS-AS1, CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Pathogenic (Aug 8, 2018)	criteria provided, single submitter
Select item 445435.	NG_012489.2:g.4951_4952insT GRCh37: Chr17:3539712-3539713 GRCh38: Chr17:3636418-3636419	CTNS		Ocular cystinosis	Pathogenic (Oct 1, 2001)	no assertion criteria provided
Select item 445336.	NG_012489.2:g.4951G>T GRCh37: Chr17:3539712 GRCh38: Chr17:3636418	CTNS		Ocular cystinosis	Pathogenic (Oct 1, 2001)	no assertion criteria provided
Select item 116529437.	NM_004937.3(CTNS):c.-635G>C GRCh37: Chr17:3539720 GRCh38: Chr17:3636426	CTNS		Inborn genetic diseases, Juvenile nephropathic cystinosis, Ocular cystinosis, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55892338.	NM_004937.3(CTNS):c.-634C>T GRCh37: Chr17:3539721 GRCh38: Chr17:3636427	CTNS		not provided	Benign (Oct 5, 2018)	criteria provided, single submitter
Select item 88900939.	NM_004937.2(CTNS):c.-581A>T GRCh37: Chr17:3539774 GRCh38: Chr17:3636480	CTNS		Nephropathic cystinosis, Ocular cystinosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32281540.	NM_004937.2(CTNS):c.-520T>C GRCh37: Chr17:3539835 GRCh38: Chr17:3636541	CTNS		not provided, Ocular cystinosis, Nephropathic cystinosis	Benign (Oct 5, 2018)	criteria provided, multiple submitters, no conflicts
Select item 88970541.	NM_004937.2(CTNS):c.-509C>G GRCh37: Chr17:3539846 GRCh38: Chr17:3636552	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32281642.	NM_004937.2(CTNS):c.-497C>T GRCh37: Chr17:3539858 GRCh38: Chr17:3636564	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32281743.	NM_004937.2(CTNS):c.-476G>A GRCh37: Chr17:3539879 GRCh38: Chr17:3636585	CTNS		Nephropathic cystinosis, Ocular cystinosis	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32281844.	NM_004937.2(CTNS):c.-458C>T GRCh37: Chr17:3539897 GRCh38: Chr17:3636603	CTNS		Ocular cystinosis, Nephropathic cystinosis, not provided	Benign (Oct 5, 2018)	criteria provided, multiple submitters, no conflicts
Select item 89125945.	NM_004937.2(CTNS):c.-451A>G GRCh37: Chr17:3539904 GRCh38: Chr17:3636610	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 32281946.	NM_004937.2(CTNS):c.-429T>C GRCh37: Chr17:3539926 GRCh38: Chr17:3636632	CTNS		Nephropathic cystinosis, Ocular cystinosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32282047.	NM_004937.2(CTNS):c.-364G>T GRCh37: Chr17:3539991 GRCh38: Chr17:3636697	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32282148.	NM_004937.2(CTNS):c.-362C>T GRCh37: Chr17:3539993 GRCh38: Chr17:3636699	CTNS		Nephropathic cystinosis, Ocular cystinosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32282249.	NM_004937.2(CTNS):c.-313G>A GRCh37: Chr17:3540042 GRCh38: Chr17:3636748	CTNS		not provided, Ocular cystinosis, Nephropathic cystinosis	Benign (Jun 19, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32282350.	NM_004937.3(CTNS):c.-272A>C GRCh37: Chr17:3540083 GRCh38: Chr17:3636789	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32282451.	NM_004937.3(CTNS):c.-258G>A GRCh37: Chr17:3540097 GRCh38: Chr17:3636803	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32282552.	NM_004937.3(CTNS):c.-230+11A>G GRCh37: Chr17:3540136 GRCh38: Chr17:3636842	CTNS		Ocular cystinosis, Nephropathic cystinosis	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 14937053.	GRCh38/hg38 17p13.2(chr17:3637051-3661051)x1 GRCh37: Chr17:3540345-3564345 GRCh38: Chr17:3637051-3661051	CTNS, CTNS-AS1		See cases	Likely benign (Sep 21, 2012)	no assertion criteria provided
Select item 14462054.	GRCh38/hg38 17p13.2(chr17:3637051-3657972)x1 GRCh37: Chr17:3540345-3561266 GRCh38: Chr17:3637051-3657972	CTNS, CTNS-AS1		See cases	Benign (Jun 30, 2010)	no assertion criteria provided
Select item 14443355.	GRCh38/hg38 17p13.2(chr17:3637097-3657852)x1 GRCh37: Chr17:3540391-3561146 GRCh38: Chr17:3637097-3657852	CTNS, CTNS-AS1		See cases	Benign (Apr 30, 2010)	no assertion criteria provided
Select item 32282656.	NM_004937.3(CTNS):c.-213T>C GRCh37: Chr17:3540417 GRCh38: Chr17:3637123	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32282757.	NM_004937.3(CTNS):c.-136C>A GRCh37: Chr17:3540494 GRCh38: Chr17:3637200	CTNS		Nephropathic cystinosis, Ocular cystinosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32282858.	NM_004937.3(CTNS):c.-74A>T GRCh37: Chr17:3540556 GRCh38: Chr17:3637262	CTNS		Nephropathic cystinosis, Ocular cystinosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32282959.	NM_004937.3(CTNS):c.-47A>C GRCh37: Chr17:3540583 GRCh38: Chr17:3637289	CTNS		Nephropathic cystinosis, Ocular cystinosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32283060.	NM_004937.3(CTNS):c.-24C>T GRCh37: Chr17:3540606 GRCh38: Chr17:3637312	CTNS		Nephropathic cystinosis, Ocular cystinosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32283161.	NM_004937.3(CTNS):c.-23AG[1] GRCh37: Chr17:3540607-3540608 GRCh38: Chr17:3637313-3637314	CTNS		Nephropathic cystinosis, Cystinosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32283262.	NM_004937.3(CTNS):c.-20+13T>C GRCh37: Chr17:3540623 GRCh38: Chr17:3637329	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 14682963.	GRCh38/hg38 17p13.2(chr17:3638550-3656739)x1 GRCh37: Chr17:3541844-3560033 GRCh38: Chr17:3638550-3656739	CTNS, CTNS-AS1		See cases	Likely benign (Sep 21, 2012)	no assertion criteria provided
Select item 127732764.	NM_004937.3(CTNS):c.-19-211A>G GRCh37: Chr17:3543271 GRCh38: Chr17:3639977	CTNS		not provided	Benign (Jul 15, 2018)	criteria provided, single submitter
Select item 14785465.	GRCh38/hg38 17p13.2(chr17:3640170-3656795)x1 GRCh37: Chr17:3543464-3560089 GRCh38: Chr17:3640170-3656795	CTNS, CTNS-AS1		See cases	Conflicting interpretations of pathogenicity (Oct 19, 2010)	no assertion criteria provided
Select item 55252466.	NM_004937.3(CTNS):c.-19-1G>A GRCh37: Chr17:3543481 GRCh38: Chr17:3640187	CTNS		Nephropathic cystinosis	Likely pathogenic (Jun 21, 2017)	criteria provided, single submitter
Select item 55315667.	NM_004937.3(CTNS):c.-8C>T GRCh37: Chr17:3543493 GRCh38: Chr17:3640199	CTNS		Nephropathic cystinosis	Uncertain significance (Jul 31, 2017)	criteria provided, single submitter
Select item 139118968.	NM_004937.3(CTNS):c.1A>T (p.Met1Leu) GRCh37: Chr17:3543501 GRCh38: Chr17:3640207	CTNS	M1L	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 135816769.	NM_004937.3(CTNS):c.5T>C (p.Ile2Thr) GRCh37: Chr17:3543505 GRCh38: Chr17:3640211	CTNS	I2T	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 107847170.	NM_004937.3(CTNS):c.12T>C (p.Asn4=) GRCh37: Chr17:3543512 GRCh38: Chr17:3640218	CTNS		Inborn genetic diseases, Juvenile nephropathic cystinosis, Ocular cystinosis	Likely benign (Jun 15, 2021)	criteria provided, single submitter
Select item 18883471.	NM_004937.3(CTNS):c.18_21del (p.Thr7fs) GRCh37: Chr17:3543516-3543519 GRCh38: Chr17:3640222-3640225	CTNS	T7fs	not provided, Nephropathic cystinosis, Cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Infantile nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54993072.	NM_004937.3(CTNS):c.20del (p.Thr7fs) GRCh37: Chr17:3543520 GRCh38: Chr17:3640226	CTNS	T7fs	Nephropathic cystinosis	Likely pathogenic (Jun 15, 2017)	criteria provided, single submitter
Select item 204900173.	NM_004937.3(CTNS):c.22A>G (p.Ile8Val) GRCh37: Chr17:3543522 GRCh38: Chr17:3640228	CTNS	I8V	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 145430674.	NM_004937.3(CTNS):c.27del (p.Phe9fs) GRCh37: Chr17:3543523 GRCh38: Chr17:3640229	CTNS	F9fs	Inborn genetic diseases, Juvenile nephropathic cystinosis, Ocular cystinosis	Pathogenic (Jun 9, 2022)	criteria provided, single submitter
Select item 167139875.	NM_004937.3(CTNS):c.29T>C (p.Ile10Thr) GRCh37: Chr17:3543529 GRCh38: Chr17:3640235	CTNS	I10T	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 114098476.	NM_004937.3(CTNS):c.30C>A (p.Ile10=) GRCh37: Chr17:3543530 GRCh38: Chr17:3640236	CTNS		Inborn genetic diseases, Juvenile nephropathic cystinosis, Ocular cystinosis	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 55692677.	NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer) GRCh37: Chr17:3543537 GRCh38: Chr17:3640243	CTNS		Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Pathogenic/Likely pathogenic (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108463178.	NM_004937.3(CTNS):c.39C>T (p.Pro13=) GRCh37: Chr17:3543539 GRCh38: Chr17:3640245	CTNS		Inborn genetic diseases, Juvenile nephropathic cystinosis, Ocular cystinosis	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 220091679.	NM_004937.3(CTNS):c.48C>T (p.Leu16=) GRCh37: Chr17:3543548 GRCh38: Chr17:3640254	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 218486980.	NM_004937.3(CTNS):c.49G>A (p.Val17Ile) GRCh37: Chr17:3543549 GRCh38: Chr17:3640255	CTNS	V17I	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 444281.	NM_004937.3(CTNS):c.60_61del (p.Cys20_Glu21delinsTer) GRCh37: Chr17:3543558-3543559 GRCh38: Chr17:3640264-3640265	CTNS		Nephropathic cystinosis	Pathogenic (Apr 1, 1998)	no assertion criteria provided
Select item 85214182.	NM_004937.3(CTNS):c.61_61+2del GRCh37: Chr17:3543559-3543561 GRCh38: Chr17:3640265-3640267	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Cystinosis	Pathogenic/Likely pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107510383.	NM_004937.3(CTNS):c.61G>T (p.Glu21Ter) GRCh37: Chr17:3543561 GRCh38: Chr17:3640267	CTNS	E21*	Inborn genetic diseases, Juvenile nephropathic cystinosis, Ocular cystinosis	Pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 149004684.	NM_004937.3(CTNS):c.61+1G>T GRCh37: Chr17:3543562 GRCh38: Chr17:3640268	CTNS		Inborn genetic diseases, Juvenile nephropathic cystinosis, Ocular cystinosis	Likely pathogenic (Jun 30, 2021)	criteria provided, single submitter
Select item 55791685.	NM_004937.3(CTNS):c.61+1G>A GRCh37: Chr17:3543562 GRCh38: Chr17:3640268	CTNS		Nephropathic cystinosis	Likely pathogenic (Apr 17, 2018)	criteria provided, single submitter
Select item 150421086.	NM_004937.3(CTNS):c.61+2T>C GRCh37: Chr17:3543563 GRCh38: Chr17:3640269	CTNS		Juvenile nephropathic cystinosis, Ocular cystinosis, Nephropathic cystinosis, Inborn genetic diseases, Juvenile nephropathic cystinosis, Ocular cystinosis	Likely pathogenic (Oct 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 83695687.	NM_004937.3(CTNS):c.61+5G>A GRCh37: Chr17:3543566 GRCh38: Chr17:3640272	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Pathogenic (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160279588.	NM_004937.3(CTNS):c.61+7T>C GRCh37: Chr17:3543568 GRCh38: Chr17:3640274	CTNS		Inborn genetic diseases, Juvenile nephropathic cystinosis, Ocular cystinosis	Likely benign (Apr 25, 2021)	criteria provided, single submitter
Select item 155806589.	NM_004937.3(CTNS):c.61+8T>G GRCh37: Chr17:3543569 GRCh38: Chr17:3640275	CTNS		Inborn genetic diseases, Juvenile nephropathic cystinosis, Ocular cystinosis	Likely benign (Nov 20, 2021)	criteria provided, single submitter
Select item 216226890.	NM_004937.3(CTNS):c.61+10G>T GRCh37: Chr17:3543571 GRCh38: Chr17:3640277	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 206639991.	NM_004937.3(CTNS):c.61+19C>T GRCh37: Chr17:3543580 GRCh38: Chr17:3640286	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 166393592.	NM_004937.3(CTNS):c.61+20G>A GRCh37: Chr17:3543581 GRCh38: Chr17:3640287	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Jul 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87058593.	NM_004937.3(CTNS):c.62-2864_225+2278del GRCh37: Chr17:3547870-3554499 GRCh38: Chr17:3644576-3651205	CTNS		Nephropathic cystinosis	Pathogenic (Jun 28, 2019)	criteria provided, single submitter
Select item 126952494.	NM_004937.3(CTNS):c.62-224C>T GRCh37: Chr17:3550514 GRCh38: Chr17:3647220	CTNS		not provided	Benign (Dec 31, 2018)	criteria provided, single submitter
Select item 66564895.	NC_000017.11:g.(?_3647424)_(3648951_?)del GRCh37: Chr17:3550718-3552245 GRCh38: Chr17:3647424-3648951	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis	Pathogenic (Oct 23, 2018)	criteria provided, single submitter
Select item 65845096.	NC_000017.11:g.(?_3647434)_(3648941_?)del GRCh37: Chr17:3550728-3552235 GRCh38: Chr17:3647434-3648941	CTNS		Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Pathogenic (Aug 4, 2022)	criteria provided, single submitter
Select item 108496497.	NM_004937.3(CTNS):c.62-8C>T GRCh37: Chr17:3550730 GRCh38: Chr17:3647436	CTNS		Inborn genetic diseases, Juvenile nephropathic cystinosis, Ocular cystinosis	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 55682398.	NM_004937.3(CTNS):c.62-2A>G GRCh37: Chr17:3550736 GRCh38: Chr17:3647442	CTNS		Nephropathic cystinosis	Likely pathogenic (Feb 20, 2018)	criteria provided, single submitter
Select item 94505699.	NM_004937.3(CTNS):c.62-1G>T GRCh37: Chr17:3550737 GRCh38: Chr17:3647443	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 651911100.	NM_004937.3(CTNS):c.62-1G>A GRCh37: Chr17:3550737 GRCh38: Chr17:3647443	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Pathogenic (Jun 7, 2022)	criteria provided, single submitter

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