1145[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	AIPL1, ABR, ABR-AS1, ACADVL, ACAP1, ADPRM, 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, C17orf97, 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, LINC00324, LINC00670, LINC01975, LINC01996, LINC02091, LINC02093, LOC100128288, LOC100288728, LOC100996842, 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, 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, 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, TP53, TRAPPC1, TRARG1, TRD-GTC2-11, TRG-GCC2-6, TRG-TCC3-1, TRI-AAT4-1, 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, ZNF232-AS1, YWHAE, ZBTB4, ZFP3, ZMYND15, ZNF18, ZNF232, 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-AS1, ABR, ALOX15, ANKFY1, ARRB2, ASPA, ATP2A3, BHLHA9, C17orf107, C17orf114, C17orf97, 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, 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, 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	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, TP53, TRAPPC1, TRARG1, TRD-GTC2-11, TRG-GCC2-6, TRG-TCC3-1, TRI-AAT4-1, 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, 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, C17orf97, 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, LINC00324, LINC01975, LINC01996, LINC02091, LOC100128288, LOC100288728, LOC100996842, 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, 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, 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		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, C17orf97, 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, LINC01975, LINC01996, LINC02091, LOC100288728, LOC100996842, 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, 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, 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, YWHAE, ZBTB4, ZFP3, ZMYND15, ZNF232, ZNF232-AS1, ZNF594, 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	ITGAE, KIAA0753, KIF1C, KIF1C-AS1, 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, 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, WDR81, WSCD1, XAF1, YWHAE, ZFP3, ZMYND15, ZNF232, ZNF232-AS1, ZNF594, ZNF594-DT, ZZEF1, ABR, ABR-AS1, AIPL1, ALOX15, ANKFY1, ARRB2, ASPA, ATP2A3, BHLHA9, C17orf100, C17orf107, C17orf114, C17orf97, 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		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, C17orf97, 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, 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, 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 1456427.	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, C17orf97, 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, 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, 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, ZNF594, YWHAE, ZBTB4, ZFP3, ZMYND15, ZNF232, ZNF232-AS1, ZNF594-DT, ZZEF1		See cases	Pathogenic (Jan 5, 2011)	no assertion criteria provided
Select item 1442398.	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, 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 595639.	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 GRCh37: Chr17:3504809-7081343 GRCh38: Chr17:3601515-7178024	TAX1BP3, TEKT1, TM4SF5, TRPV1, TXNDC17, UBE2G1, USP6, VMO1, WSCD1, XAF1, ZFP3, ZMYND15, ZNF232, ZNF232-AS1, ZNF594, ZNF594-DT, ZZEF1, 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, 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		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 14623510.	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1 GRCh37: Chr17:3947596-5847092 GRCh38: Chr17:4044302-5943772	ALOX15, ANKFY1, ARRB2, C17orf107, C17orf114, C1QBP, CAMTA2, CAMTA2-AS1, CHRNE, CXCL16, CYB5D2, DERL2, DHX33, DHX33-DT, ENO3, GGT6, GLTPD2, GP1BA, INCA1, KIF1C, KIF1C-AS1, LINC01996, LOC107984973, LOC112529915, LOC121587571, LOC339166, LOC728392, MED11, MINK1, MIR6864, MIR6865, MIS12, MYBBP1A, NLRP1, NUP88, PELP1, PELP1-DT, PFN1, PLD2, PSMB6, RABEP1, RNF167, RPAIN, SCIMP, SLC25A11, SLC52A1, SMTNL2, SPAG7, SPNS2, SPNS3, TM4SF5, UBE2G1, USP6, VMO1, ZFP3, ZMYND15, ZNF232, ZNF232-AS1, ZNF594, ZNF594-DT, ZZEF1		See cases	Likely pathogenic (Aug 5, 2011)	no assertion criteria provided
Select item 15085411.	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3 GRCh37: Chr17:3995902-5257768 GRCh38: Chr17:4092608-5354473	ALOX15, ANKFY1, ARRB2, C17orf107, C17orf114, CAMTA2, CAMTA2-AS1, CHRNE, CXCL16, CYB5D2, ENO3, GGT6, GLTPD2, GP1BA, INCA1, KIF1C, KIF1C-AS1, LINC01996, LOC107984973, LOC112529915, LOC121587571, MED11, MINK1, MIR6864, MIR6865, MYBBP1A, PELP1, PELP1-DT, PFN1, PLD2, PSMB6, RABEP1, RNF167, SCIMP, SLC25A11, SLC52A1, SMTNL2, SPAG7, SPNS2, SPNS3, TM4SF5, UBE2G1, USP6, VMO1, ZFP3, ZMYND15, ZNF232, ZNF232-AS1, ZNF594, ZNF594-DT, ZZEF1		See cases	Likely benign (Oct 24, 2012)	no assertion criteria provided
Select item 167975912.	Single allele GRCh38: Chr17:4772213-5119909	C17orf107, C17orf114, CAMTA2, CAMTA2-AS1, CHRNE, ENO3, GLTPD2, GP1BA, INCA1, KIF1C, KIF1C-AS1, LOC107984973, LOC112529915, MINK1, MIR6864, MIR6865, PFN1, PLD2, PSMB6, RNF167, SLC25A11, SLC52A1, SPAG7, TM4SF5, USP6, VMO1, ZFP3, ZNF232, ZNF232-AS1		7p22.1 microduplication syndrome	Uncertain significance (Jul 8, 2021)	criteria provided, single submitter
Select item 32394213.	NM_000080.4(CHRNE):c.*930T>G GRCh37: Chr17:4801101 GRCh38: Chr17:4897806	CHRNE, MINK1		Congenital myasthenic syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32394314.	NM_000080.4(CHRNE):c.*906G>C GRCh37: Chr17:4801125 GRCh38: Chr17:4897830	CHRNE, MINK1		Congenital myasthenic syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32394415.	NM_000080.4(CHRNE):c.*903G>A GRCh37: Chr17:4801128 GRCh38: Chr17:4897833	MINK1, CHRNE		Congenital myasthenic syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32394516.	NM_000080.4(CHRNE):c.*902C>T GRCh37: Chr17:4801129 GRCh38: Chr17:4897834	CHRNE, MINK1		Congenital myasthenic syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32394617.	NM_000080.4(CHRNE):c.*876G>A GRCh37: Chr17:4801155 GRCh38: Chr17:4897860	CHRNE, MINK1		Congenital myasthenic syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32394718.	NM_000080.4(CHRNE):c.*875C>T GRCh37: Chr17:4801156 GRCh38: Chr17:4897861	CHRNE, MINK1		Congenital myasthenic syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32394819.	NM_000080.4(CHRNE):c.*868G>T GRCh37: Chr17:4801163 GRCh38: Chr17:4897868	MINK1, CHRNE		Congenital myasthenic syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32394920.	NM_000080.4(CHRNE):c.*858G>C GRCh37: Chr17:4801173 GRCh38: Chr17:4897878	CHRNE, MINK1		Congenital myasthenic syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89089021.	NM_153827.5(MINK1):c.*594G>A GRCh37: Chr17:4801176 GRCh38: Chr17:4897881	CHRNE, MINK1		Congenital myasthenic syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 32395022.	NM_000080.4(CHRNE):c.*852G>A GRCh37: Chr17:4801179 GRCh38: Chr17:4897884	MINK1, CHRNE		Congenital myasthenic syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32395123.	NM_000080.4(CHRNE):c.*837A>G GRCh37: Chr17:4801194 GRCh38: Chr17:4897899	MINK1, CHRNE		Congenital myasthenic syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32395224.	NM_000080.4(CHRNE):c.*836C>T GRCh37: Chr17:4801195 GRCh38: Chr17:4897900	MINK1, CHRNE		Congenital myasthenic syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32395325.	NM_000080.4(CHRNE):c.*806G>A GRCh37: Chr17:4801225 GRCh38: Chr17:4897930	CHRNE, MINK1		Congenital myasthenic syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32395426.	NM_000080.4(CHRNE):c.*805T>G GRCh37: Chr17:4801226 GRCh38: Chr17:4897931	CHRNE, MINK1		Congenital myasthenic syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32395527.	NM_153827.5(MINK1):c.*671TG[3] GRCh37: Chr17:4801251-4801252 GRCh38: Chr17:4897956-4897957	MINK1, CHRNE		Congenital Myasthenic Syndrome, Dominant/Recessive	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32395628.	NM_153827.5(MINK1):c.*693TCCC[1] GRCh37: Chr17:4801274-4801277 GRCh38: Chr17:4897979-4897982	CHRNE, MINK1		Congenital Myasthenic Syndrome, Dominant/Recessive	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 89212529.	NM_153827.5(MINK1):c.*701C>T GRCh37: Chr17:4801283 GRCh38: Chr17:4897988	CHRNE, MINK1		Congenital myasthenic syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32395830.	NM_000080.4(CHRNE):c.*745G>A GRCh37: Chr17:4801286 GRCh38: Chr17:4897991	CHRNE, MINK1		Congenital myasthenic syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32395731.	NM_000080.4(CHRNE):c.744_745insA GRCh37: Chr17:4801286-4801287 GRCh38: Chr17:4897991-4897992	MINK1, CHRNE		Congenital Myasthenic Syndrome, Dominant/Recessive	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32395932.	NM_000080.4(CHRNE):c.*743T>G GRCh37: Chr17:4801288 GRCh38: Chr17:4897993	CHRNE, MINK1		Congenital myasthenic syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32396033.	NM_000080.4(CHRNE):c.*622C>T GRCh37: Chr17:4801409 GRCh38: Chr17:4898114	CHRNE		Congenital myasthenic syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32396134.	NM_000080.4(CHRNE):c.*610C>T GRCh37: Chr17:4801421 GRCh38: Chr17:4898126	CHRNE		Congenital myasthenic syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32396235.	NM_000080.4(CHRNE):c.*597G>A GRCh37: Chr17:4801434 GRCh38: Chr17:4898139	CHRNE		Congenital myasthenic syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32396336.	NM_000080.4(CHRNE):c.*590C>T GRCh37: Chr17:4801441 GRCh38: Chr17:4898146	CHRNE		Congenital myasthenic syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32396437.	NM_000080.4(CHRNE):c.*572C>G GRCh37: Chr17:4801459 GRCh38: Chr17:4898164	CHRNE		Congenital myasthenic syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32396538.	NM_000080.4(CHRNE):c.*556C>T GRCh37: Chr17:4801475 GRCh38: Chr17:4898180	CHRNE		Congenital myasthenic syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32396639.	NM_000080.4(CHRNE):c.*437G>C GRCh37: Chr17:4801594 GRCh38: Chr17:4898299	CHRNE		Congenital myasthenic syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88868140.	NM_000080.4(CHRNE):c.*388C>T GRCh37: Chr17:4801643 GRCh38: Chr17:4898348	CHRNE		Congenital myasthenic syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32396741.	NM_000080.4(CHRNE):c.*383G>A GRCh37: Chr17:4801648 GRCh38: Chr17:4898353	CHRNE		Congenital myasthenic syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32396842.	NM_000080.4(CHRNE):c.*366G>A GRCh37: Chr17:4801665 GRCh38: Chr17:4898370	CHRNE		Congenital myasthenic syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89038843.	NM_000080.4(CHRNE):c.*329T>A GRCh37: Chr17:4801702 GRCh38: Chr17:4898407	CHRNE		Congenital myasthenic syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32396944.	NM_000080.4(CHRNE):c.*315T>G GRCh37: Chr17:4801716 GRCh38: Chr17:4898421	CHRNE		Congenital myasthenic syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32397045.	NM_000080.4(CHRNE):c.*267C>T GRCh37: Chr17:4801764 GRCh38: Chr17:4898469	CHRNE		Congenital myasthenic syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32397146.	NM_000080.4(CHRNE):c.*206G>A GRCh37: Chr17:4801825 GRCh38: Chr17:4898530	CHRNE		Congenital myasthenic syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32397247.	NM_000080.4(CHRNE):c.*144T>C GRCh37: Chr17:4801887 GRCh38: Chr17:4898592	CHRNE		Congenital myasthenic syndrome, not provided	Benign (Jun 19, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32397348.	NM_000080.4(CHRNE):c.*125C>T GRCh37: Chr17:4801906 GRCh38: Chr17:4898611	CHRNE		Congenital myasthenic syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32397449.	NM_000080.4(CHRNE):c.*65C>T GRCh37: Chr17:4801966 GRCh38: Chr17:4898671	CHRNE		Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome, not provided, Congenital myasthenic syndrome 4C	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32397550.	NM_000080.4(CHRNE):c.*61C>T GRCh37: Chr17:4801970 GRCh38: Chr17:4898675	CHRNE		Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome, Congenital myasthenic syndrome 4C	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 241926251.	NM_000080.4(CHRNE):c.1481_*48del (p.Ter494LeuextTer?) GRCh37: Chr17:4801983-4802032 GRCh38: Chr17:4898688-4898737	CHRNE		Congenital myasthenic syndrome 4A	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 37287352.	NM_000080.4(CHRNE):c.1480_*48delinsC (p.Ter494LeuextTer?) GRCh37: Chr17:4801983-4802033 GRCh38: Chr17:4898688-4898738	CHRNE		not provided, Congenital myasthenic syndrome 4A	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 25488553.	NM_000080.4(CHRNE):c.*43T>C GRCh37: Chr17:4801988 GRCh38: Chr17:4898693	CHRNE		not specified, Congenital myasthenic syndrome	Benign/Likely benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 89094554.	NM_000080.4(CHRNE):c.*38G>A GRCh37: Chr17:4801993 GRCh38: Chr17:4898698	CHRNE		Congenital myasthenic syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 25488455.	NM_000080.4(CHRNE):c.*37G>A GRCh37: Chr17:4801994 GRCh38: Chr17:4898699	CHRNE		not specified, Congenital myasthenic syndrome	Benign/Likely benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 244005856.	NM_000080.4(CHRNE):c.1480_*31del (p.Ter494GlnextTer?) GRCh37: Chr17:4802000-4802033 GRCh38: Chr17:4898705-4898738	CHRNE		not provided	Uncertain significance (Jul 8, 2019)	criteria provided, single submitter
Select item 89094657.	NM_000080.4(CHRNE):c.*24C>T GRCh37: Chr17:4802007 GRCh38: Chr17:4898712	CHRNE		Congenital myasthenic syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 64205058.	NC_000017.10:g.(?_4802011)_(4850135_?)dup GRCh37: Chr17:4802011-4850135 GRCh38: Chr17:4898716-4946840	C17orf107, CHRNE, GP1BA, PFN1, RNF167, SLC25A11		Congenital myasthenic syndrome 4A	Uncertain significance (May 9, 2019)	criteria provided, single submitter
Select item 19397259.	NM_000080.4(CHRNE):c.*6A>G GRCh37: Chr17:4802025 GRCh38: Chr17:4898730	CHRNE		Congenital myasthenic syndrome, not specified, not provided	Benign/Likely benign (Jan 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 25488660.	NM_000080.4(CHRNE):c.*5C>T GRCh37: Chr17:4802026 GRCh38: Chr17:4898731	CHRNE		Congenital myasthenic syndrome, not specified	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 63177661.	NM_000080.4(CHRNE):c.1480T>C (p.Ter494Gln) GRCh37: Chr17:4802033 GRCh38: Chr17:4898738	CHRNE		Congenital myasthenic syndrome	Uncertain significance (Oct 29, 2018)	criteria provided, single submitter
Select item 94997362.	NM_000080.4(CHRNE):c.1471A>G (p.Ile491Val) GRCh37: Chr17:4802042 GRCh38: Chr17:4898747	CHRNE	I491V	Congenital myasthenic syndrome 4A	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 160184763.	NM_000080.4(CHRNE):c.1467G>A (p.Pro489=) GRCh37: Chr17:4802046 GRCh38: Chr17:4898751	CHRNE		Congenital myasthenic syndrome 4A	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 112973464.	NM_000080.4(CHRNE):c.1467G>T (p.Pro489=) GRCh37: Chr17:4802046 GRCh38: Chr17:4898751	CHRNE		Congenital myasthenic syndrome 4A	Likely benign (Oct 14, 2020)	criteria provided, single submitter
Select item 134376165.	NM_000080.4(CHRNE):c.1466C>T (p.Pro489Leu) GRCh37: Chr17:4802047 GRCh38: Chr17:4898752	CHRNE	P489L	Congenital myasthenic syndrome 4A, not specified	Uncertain significance (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115718966.	NM_000080.4(CHRNE):c.1462G>A (p.Ala488Thr) GRCh37: Chr17:4802051 GRCh38: Chr17:4898756	CHRNE	A488T	Congenital myasthenic syndrome 4A	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 170919367.	NM_000080.4(CHRNE):c.1461C>A (p.Tyr487Ter) GRCh37: Chr17:4802052 GRCh38: Chr17:4898757	CHRNE	Y487*	Congenital myasthenic syndrome 4C	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 76419968.	NM_000080.4(CHRNE):c.1461C>T (p.Tyr487=) GRCh37: Chr17:4802052 GRCh38: Chr17:4898757	CHRNE		Congenital myasthenic syndrome 4A, not provided	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 112265169.	NM_000080.4(CHRNE):c.1458C>T (p.Pro486=) GRCh37: Chr17:4802055 GRCh38: Chr17:4898760	CHRNE		Congenital myasthenic syndrome 4A	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 91807270.	NM_000080.4(CHRNE):c.1457C>T (p.Pro486Leu) GRCh37: Chr17:4802056 GRCh38: Chr17:4898761	CHRNE	P486L	Congenital myasthenic syndrome 4A	Likely pathogenic	criteria provided, single submitter
Select item 114535471.	NM_000080.4(CHRNE):c.1455C>T (p.Leu485=) GRCh37: Chr17:4802058 GRCh38: Chr17:4898763	CHRNE		Congenital myasthenic syndrome 4A	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 42656872.	NM_000080.4(CHRNE):c.1453C>T (p.Leu485Phe) GRCh37: Chr17:4802060 GRCh38: Chr17:4898765	CHRNE	L485F	not provided, Congenital myasthenic syndrome 4A	Uncertain significance (Apr 5, 2020)	criteria provided, multiple submitters, no conflicts
Select item 193994673.	NM_000080.4(CHRNE):c.1450G>C (p.Asp484His) GRCh37: Chr17:4802063 GRCh38: Chr17:4898768	CHRNE	D484H	Congenital myasthenic syndrome 4A	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 32397674.	NM_000080.4(CHRNE):c.1446G>A (p.Val482=) GRCh37: Chr17:4802067 GRCh38: Chr17:4898772	CHRNE		Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome	Conflicting interpretations of pathogenicity (Oct 20, 2022)	criteria provided, conflicting interpretations
Select item 156964675.	NM_000080.4(CHRNE):c.1443A>C (p.Arg481=) GRCh37: Chr17:4802070 GRCh38: Chr17:4898775	CHRNE		Congenital myasthenic syndrome 4A	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 223565876.	NM_000080.4(CHRNE):c.1442G>T (p.Arg481Leu) GRCh37: Chr17:4802071 GRCh38: Chr17:4898776	CHRNE	R481L	not provided, Inborn genetic diseases	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 215915577.	NM_000080.4(CHRNE):c.1441C>G (p.Arg481Gly) GRCh37: Chr17:4802072 GRCh38: Chr17:4898777	CHRNE	R481G	Congenital myasthenic syndrome 4A	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 64761878.	NM_000080.4(CHRNE):c.1441C>T (p.Arg481Ter) GRCh37: Chr17:4802072 GRCh38: Chr17:4898777	CHRNE	R481*	Congenital myasthenic syndrome 4A	Uncertain significance (Aug 30, 2019)	criteria provided, single submitter
Select item 141600979.	NM_000080.4(CHRNE):c.1439A>G (p.Asn480Ser) GRCh37: Chr17:4802074 GRCh38: Chr17:4898779	CHRNE	N480S	Congenital myasthenic syndrome 4A	Uncertain significance (Nov 28, 2021)	criteria provided, single submitter
Select item 156210080.	NM_000080.4(CHRNE):c.1434C>T (p.Tyr478=) GRCh37: Chr17:4802079 GRCh38: Chr17:4898784	CHRNE		Congenital myasthenic syndrome 4A	Likely benign (Mar 17, 2021)	criteria provided, single submitter
Select item 62013081.	NM_000080.4(CHRNE):c.1434C>A (p.Tyr478Ter) GRCh37: Chr17:4802079 GRCh38: Chr17:4898784	CHRNE	Y478*	Congenital myasthenic syndrome 4A, not provided	Conflicting interpretations of pathogenicity (Feb 28, 2022)	criteria provided, conflicting interpretations
Select item 79797982.	NM_000080.4(CHRNE):c.1431C>T (p.Ala477=) GRCh37: Chr17:4802082 GRCh38: Chr17:4898787	CHRNE		Congenital myasthenic syndrome 4A	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 132208183.	NM_000080.4(CHRNE):c.1429del (p.Ala477fs) GRCh37: Chr17:4802084 GRCh38: Chr17:4898789	CHRNE	A477fs	Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C, not provided	Pathogenic/Likely pathogenic (Feb 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25489384.	NM_000080.4(CHRNE):c.1425C>T (p.Leu475=) GRCh37: Chr17:4802088 GRCh38: Chr17:4898793	CHRNE		not specified, Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97043985.	NM_000080.4(CHRNE):c.1424T>A (p.Leu475His) GRCh37: Chr17:4802089 GRCh38: Chr17:4898794	CHRNE	L475H	Congenital myasthenic syndrome 4A	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 73346486.	NM_000080.4(CHRNE):c.1419C>A (p.Ile473=) GRCh37: Chr17:4802094 GRCh38: Chr17:4898799	CHRNE		Congenital myasthenic syndrome 4A	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 42140087.	NM_000080.4(CHRNE):c.1419C>G (p.Ile473Met) GRCh37: Chr17:4802094 GRCh38: Chr17:4898799	CHRNE	I473M	not provided	Uncertain significance (Jun 3, 2016)	criteria provided, single submitter
Select item 25489288.	NM_000080.4(CHRNE):c.1416C>T (p.Leu472=) GRCh37: Chr17:4802097 GRCh38: Chr17:4898802	CHRNE		not specified, Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A	Conflicting interpretations of pathogenicity (Nov 4, 2022)	criteria provided, conflicting interpretations
Select item 74905289.	NM_000080.4(CHRNE):c.1413C>T (p.Ser471=) GRCh37: Chr17:4802100 GRCh38: Chr17:4898805	CHRNE		Congenital myasthenic syndrome 4A	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 161418790.	NM_000080.4(CHRNE):c.1410C>T (p.Ser470=) GRCh37: Chr17:4802103 GRCh38: Chr17:4898808	CHRNE		Congenital myasthenic syndrome 4A	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 70625591.	NM_000080.4(CHRNE):c.1407C>T (p.Gly469=) GRCh37: Chr17:4802106 GRCh38: Chr17:4898811	CHRNE		Congenital myasthenic syndrome 4A	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 244006392.	NM_000080.4(CHRNE):c.1406G>C (p.Gly469Ala) GRCh37: Chr17:4802107 GRCh38: Chr17:4898812	CHRNE	G469A	not provided	Uncertain significance (Jan 3, 2019)	criteria provided, single submitter
Select item 152091793.	NM_000080.4(CHRNE):c.1406G>T (p.Gly469Val) GRCh37: Chr17:4802107 GRCh38: Chr17:4898812	CHRNE	G469V	Congenital myasthenic syndrome 4A	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 201493294.	NM_000080.4(CHRNE):c.1404G>C (p.Val468_Gly469=) GRCh37: Chr17:4802109 GRCh38: Chr17:4898814	CHRNE		Congenital myasthenic syndrome 4A	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 220152695.	NM_000080.4(CHRNE):c.1402G>T (p.Val468Leu) GRCh37: Chr17:4802111 GRCh38: Chr17:4898816	CHRNE	V468L	Congenital myasthenic syndrome 4A	Benign (Jun 4, 2022)	criteria provided, single submitter
Select item 53425696.	NM_000080.4(CHRNE):c.1402G>A (p.Val468Met) GRCh37: Chr17:4802111 GRCh38: Chr17:4898816	CHRNE	V468M	not provided, Inborn genetic diseases, Congenital myasthenic syndrome 4A	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 12876497.	NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) GRCh37: Chr17:4802111 GRCh38: Chr17:4898816	CHRNE	V468L	Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome, not specified, not provided, Congenital myasthenic syndrome 4A	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169067998.	NM_000080.4(CHRNE):c.1399A>G (p.Ser467Gly) GRCh37: Chr17:4802114 GRCh38: Chr17:4898819	CHRNE	S467G	See cases	Uncertain significance (Sep 17, 2019)	criteria provided, single submitter
Select item 153925699.	NM_000080.4(CHRNE):c.1395C>T (p.Leu465=) GRCh37: Chr17:4802118 GRCh38: Chr17:4898823	CHRNE		Congenital myasthenic syndrome 4A	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 1056344100.	NM_000080.4(CHRNE):c.1390G>A (p.Val464Met) GRCh37: Chr17:4802123 GRCh38: Chr17:4898828	CHRNE	V464M	Congenital myasthenic syndrome 4A, not provided	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts

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