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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr17:525-14667519
GRCh38:
Chr17:150732-14764202
ABR, ACADVL, ALOX12, ALOX12B, ALOX15, ALOX15B, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, C1QBP, CD68, CHD3, CHRNB1, CHRNE, COX10, CLDN7, CRK, CTNS, DLG4, DNAH9, DPH1, DVL2, EFNB3, EIF4A1, EIF5A, ENO3, FGF11, GP1BA, GPS2, GUCY2D, HIC1, ITGAE, MNT, MYH1, MYH2, MYH3, MYH4, MYH8, MYH10, MYO1C, NUP88, OR1D2, OR3A1, OR3A2, P2RX1, P2RX5, PAFAH1B1, SERPINF1, PER1, PFAS, PFN1, PITPNA, PLD2, SERPINF2, POLR2A, PSMB6, RCVRN, RPA1, RPL26, SCO1, MAP2K4, SHBG, SLC2A4, SOX15, VAMP2, TP53, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, UBE2G1, TRPV1, YWHAE, ZNF18, ZNF232, OR1A1, OR1D5, OR1E1, OR1E2, OR1E3, OR1G1, OR3A3, SLC25A11, DOC2B, GAS7, SCARF1, TNK1, MYH13, TNFSF13, TNFSF12, TM4SF5, USP6, RABEP1, KCNAB3, AURKB, GLP2R, NTN1, STX8, RPH3AL, FXR2, MPDU1, SPAG7, ACAP1, KIAA0753, SGSM2, ARHGAP44, HS3ST3B1, HS3ST3A1, CLEC10A, MYBBP1A, PRPF8, KIF1C, GABARAP, NLRP1, ARHGEF15, RAP1GAP2, CAMTA2, KDM6B, ZZEF1, CLUH, SMG6, WSCD1, CTDNEP1, PIK3R5, ELP5, SHPK, AIPL1, RNF167, SENP3, OR1A2, SNORA67, PELP1, RANGRF, TIMM22, TAX1BP3, MINK1, GEMIN4, MED31, DERL2, GLOD4, YBX2, ANKFY1, INPP5K, PIMREG, XAF1, BORCS6, SLC52A1, WRAP53, MRM3, VPS53, NCBP3, TSR1, DHX33, ADPRM, PLSCR3, NLGN2, ZBTB4, CXCL16, TRAPPC1, ALOXE3, ELAC2, SRR, NXN, MIS12, METTL16, PHF23, TLCD3A, CTC1, NDEL1, PITPNM3, EMC6, RILP, TEKT1, HASPIN, ZMYND15, CAMKK1, RPAIN, TMEM107, NAA38, NEURL4, ZNF594, HES7, SPATA22, MGC12916, TXNDC17, MIR22HG, TMEM88, MYOCD, SAT2, SMYD4, CNTROB, CYB5D1, OVCA2, USP43, KRBA2, SLC43A2, CYB5D2, C17orf49, ZFP3, GGT6, SPNS2, WDR81, DNAH2, RTN4RL1, CDRT15, CFAP52, CCDC42, PIK3R6, ODF4, KCTD11, MFSD6L, TRPV3, SLC16A11, FBXO39, DHRS7C, SLC16A13, SPEM2, SPNS3, TMEM256, BCL6B, LOC284009, VMO1, RNF227, LINC00324, LINC00670, SLC13A5, TMEM102, TRARG1, LOC339166, TMEM95, SMTNL2, RFLNB, SPEM1, GLTPD2, INCA1, SCIMP, C17orf100, SPDYE4, TMEM220, SHISA6, SLC25A35, C17orf97, LINC01996, MED11, MIR132, MIR195, MIR212, MIR22, TNFSF12-TNFSF13, RNASEK, MIR324, MIR497, SLC35G6, RNF222, GSG1L2, PIRT, SNORA48, SNORD10, OR1D4, SCARNA21, SNORD91A, SNORD91B, SNORD118, BHLHA9, TLCD2, LOC728392, MIR744, LOC100128006, LOC100128288, MYHAS, C17orf107, LOC100130950, TRS-CGA1-1, TRW-CCA3-3, TRW-CCA1-1, TRP-CGG1-3, TRS-AGA2-6, TRT-AGT1-1, TRG-TCC3-1, TRT-AGT1-2, TRS-GCT4-3, TRD-GTC2-11, TRI-AAT5-5, TRI-AAT4-1, TRT-AGT5-1, LOC100288728, TMEM238L, MIR1253, MIR548H3, PITPNA-AS1, MIR3183, MIR4314, LINC02091, LOC100506388, ALOX12-AS1, MIR497HG, RNASEK-C17orf49, TMEM256-PLSCR3, SENP3-EIF4A1, P2RX5-TAX1BP3, MIR4520-1, MIR4521, MIR4520-2, MIR1269B, COX10-AS1, LOC100996842, TMEM220-AS1, LOC101559451, LOC101927727, LOC101927839, LOC101927911, LOC101928000, LOC101928266, MYOCD-AS1, CCDC92B, MIR6776, MIR6864, MIR6865, MIR6883, KIF1C-AS1, LOC105371430, LOC105371485, LINC01975, DHX33-DT, LINC02093, LOC105371592, LOC105943586, LOC106794092, LOC106799838, SPEM3, LOC107984973, LOC107988047, LOC108254670, LOC110120951, LOC110121369, LOC110121380, LOC111413025, LOC111556120, LOC111828490, LOC112529892, LOC112529893, LOC112529894, LOC112529895, LOC112529901, LOC112529915, LOC112533656, LOC112533657, LOC112533664, LOC112533665, LOC112533683, LOC112533684, LOC112533685, LOC114827863, LOC116276454
See casesPathogenic
(Mar 10, 2014)
no assertion criteria providedVCV000154089
2.
GRCh37:
Chr17:45835-12247218
GRCh38:
Chr17:162016-12343901
ABR, ACADVL, ALOX12, ALOX12B, ALOX15, ALOX15B, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, C1QBP, CD68, CHD3, CHRNB1, CHRNE, CLDN7, CRK, CTNS, DLG4, DNAH9, DPH1, DVL2, EFNB3, EIF4A1, EIF5A, ENO3, FGF11, GP1BA, GPS2, GUCY2D, HIC1, ITGAE, MNT, MYH1, MYH2, MYH3, MYH4, MYH8, MYH10, MYO1C, NUP88, OR1D2, OR3A1, OR3A2, P2RX1, P2RX5, PAFAH1B1, SERPINF1, PER1, PFAS, PFN1, PITPNA, PLD2, SERPINF2, POLR2A, PSMB6, RCVRN, RPA1, RPL26, SCO1, MAP2K4, SHBG, SLC2A4, SOX15, VAMP2, TP53, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, UBE2G1, TRPV1, YWHAE, ZNF18, ZNF232, OR1A1, OR1D5, OR1E1, OR1E2, OR1E3, OR1G1, OR3A3, SLC25A11, DOC2B, GAS7, SCARF1, TNK1, MYH13, TNFSF13, TNFSF12, TM4SF5, USP6, RABEP1, KCNAB3, AURKB, GLP2R, NTN1, STX8, RPH3AL, FXR2, MPDU1, SPAG7, ACAP1, KIAA0753, SGSM2, CLEC10A, MYBBP1A, PRPF8, KIF1C, GABARAP, NLRP1, ARHGEF15, RAP1GAP2, CAMTA2, KDM6B, ZZEF1, CLUH, SMG6, WSCD1, CTDNEP1, PIK3R5, ELP5, SHPK, AIPL1, RNF167, SENP3, OR1A2, SNORA67, PELP1, RANGRF, TIMM22, TAX1BP3, MINK1, GEMIN4, MED31, DERL2, GLOD4, YBX2, ANKFY1, INPP5K, PIMREG, XAF1, BORCS6, SLC52A1, WRAP53, MRM3, VPS53, NCBP3, TSR1, DHX33, ADPRM, PLSCR3, NLGN2, ZBTB4, CXCL16, TRAPPC1, ALOXE3, SRR, NXN, MIS12, METTL16, PHF23, TLCD3A, CTC1, NDEL1, PITPNM3, EMC6, RILP, TEKT1, HASPIN, ZMYND15, CAMKK1, RPAIN, TMEM107, NAA38, NEURL4, ZNF594, HES7, SPATA22, TXNDC17, MIR22HG, TMEM88, SAT2, SMYD4, CNTROB, CYB5D1, OVCA2, USP43, KRBA2, SLC43A2, CYB5D2, C17orf49, ZFP3, GGT6, SPNS2, WDR81, DNAH2, RTN4RL1, CFAP52, CCDC42, PIK3R6, ODF4, KCTD11, MFSD6L, TRPV3, SLC16A11, FBXO39, DHRS7C, SLC16A13, SPEM2, SPNS3, TMEM256, BCL6B, LOC284009, VMO1, RNF227, LINC00324, SLC13A5, TMEM102, TRARG1, LOC339166, TMEM95, SMTNL2, RFLNB, SPEM1, GLTPD2, INCA1, SCIMP, C17orf100, SPDYE4, TMEM220, SHISA6, SLC25A35, C17orf97, LINC01996, MED11, MIR132, MIR195, MIR212, MIR22, TNFSF12-TNFSF13, RNASEK, MIR324, MIR497, SLC35G6, RNF222, GSG1L2, PIRT, SNORA48, SNORD10, OR1D4, SCARNA21, SNORD91A, SNORD91B, SNORD118, BHLHA9, TLCD2, LOC728392, MIR744, LOC100128288, MYHAS, C17orf107, LOC100130950, TRS-CGA1-1, TRW-CCA3-3, TRW-CCA1-1, TRP-CGG1-3, TRS-AGA2-6, TRT-AGT1-1, TRG-TCC3-1, TRT-AGT1-2, TRS-GCT4-3, TRD-GTC2-11, TRI-AAT5-5, TRI-AAT4-1, TRT-AGT5-1, LOC100288728, TMEM238L, MIR1253, PITPNA-AS1, MIR3183, MIR4314, LINC02091, LOC100506388, ALOX12-AS1, MIR497HG, RNASEK-C17orf49, TMEM256-PLSCR3, SENP3-EIF4A1, P2RX5-TAX1BP3, MIR4520-1, MIR4521, MIR4520-2, LOC100996842, TMEM220-AS1, LOC101559451, LOC101927727, LOC101927839, LOC101927911, LOC101928000, LOC101928266, CCDC92B, MIR6776, MIR6864, MIR6865, MIR6883, KIF1C-AS1, LOC105371430, LOC105371485, LINC01975, DHX33-DT, LOC105371592, LOC106794092, LOC106799838, SPEM3, LOC107984973, LOC107988047, LOC108254670, LOC110120951, LOC110121369, LOC111413025, LOC111556120, LOC111828490, LOC112529892, LOC112529893, LOC112529894, LOC112529895, LOC112529901, LOC112529915, LOC112533656, LOC112533657, LOC112533664, LOC112533665, LOC112533683, LOC112533684, LOC112533685, LOC114827863, LOC116276454
See casesPathogenic
(Aug 27, 2012)
no assertion criteria providedVCV000149531
3.
GRCh37:
Chr17:45835-7600330
GRCh38:
Chr17:162016-7697012
ABR, ACADVL, ALOX12, ALOX15, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, C1QBP, CD68, CHRNB1, CHRNE, CLDN7, CRK, CTNS, DLG4, DPH1, DVL2, EIF4A1, EIF5A, ENO3, FGF11, GP1BA, GPS2, HIC1, ITGAE, MNT, MYO1C, NUP88, OR1D2, OR3A1, OR3A2, P2RX1, P2RX5, PAFAH1B1, SERPINF1, PFN1, PITPNA, PLD2, SERPINF2, POLR2A, PSMB6, RPA1, SHBG, SLC2A4, SOX15, TP53, UBE2G1, TRPV1, YWHAE, ZNF232, OR1A1, OR1D5, OR1E1, OR1E2, OR1E3, OR1G1, OR3A3, SLC25A11, DOC2B, SCARF1, TNK1, TNFSF13, TNFSF12, TM4SF5, USP6, RABEP1, RPH3AL, FXR2, MPDU1, SPAG7, ACAP1, KIAA0753, SGSM2, CLEC10A, MYBBP1A, PRPF8, KIF1C, GABARAP, NLRP1, RAP1GAP2, CAMTA2, ZZEF1, CLUH, SMG6, WSCD1, CTDNEP1, ELP5, SHPK, AIPL1, RNF167, SENP3, OR1A2, SNORA67, PELP1, TIMM22, TAX1BP3, MINK1, GEMIN4, MED31, DERL2, GLOD4, YBX2, ANKFY1, INPP5K, PIMREG, XAF1, SLC52A1, WRAP53, MRM3, VPS53, NCBP3, TSR1, DHX33, PLSCR3, NLGN2, ZBTB4, CXCL16, SRR, NXN, MIS12, METTL16, PHF23, TLCD3A, PITPNM3, EMC6, RILP, TEKT1, HASPIN, ZMYND15, CAMKK1, RPAIN, NEURL4, ZNF594, SPATA22, TXNDC17, MIR22HG, SAT2, SMYD4, OVCA2, SLC43A2, CYB5D2, C17orf49, ZFP3, GGT6, SPNS2, WDR81, RTN4RL1, KCTD11, TRPV3, SLC16A11, FBXO39, SLC16A13, SPEM2, SPNS3, TMEM256, BCL6B, LOC284009, VMO1, SLC13A5, TMEM102, TRARG1, LOC339166, TMEM95, SMTNL2, RFLNB, SPEM1, GLTPD2, INCA1, SCIMP, C17orf100, C17orf97, LINC01996, MED11, MIR132, MIR195, MIR212, MIR22, TNFSF12-TNFSF13, RNASEK, MIR324, MIR497, SLC35G6, SNORA48, SNORD10, OR1D4, SNORD91A, SNORD91B, BHLHA9, TLCD2, LOC728392, C17orf107, LOC100130950, LOC100288728, MIR1253, PITPNA-AS1, MIR3183, LINC02091, LOC100506388, ALOX12-AS1, MIR497HG, RNASEK-C17orf49, TMEM256-PLSCR3, SENP3-EIF4A1, P2RX5-TAX1BP3, MIR4520-1, MIR4520-2, LOC100996842, LOC101559451, LOC101927727, LOC101927839, LOC101927911, LOC101928000, CCDC92B, MIR6776, MIR6864, MIR6865, KIF1C-AS1, LOC105371430, LOC105371485, LINC01975, DHX33-DT, LOC105371592, LOC106799838, SPEM3, LOC107984973, LOC107988047, LOC110120951, LOC110121369, LOC111413025, LOC111556120, LOC112529892, LOC112529893, LOC112529901, LOC112529915, LOC112533656, LOC112533657, LOC112533664
See casesPathogenic
(Mar 9, 2012)
no assertion criteria providedVCV000149158
4.
GRCh37:
Chr17:45835-6862369
GRCh38:
Chr17:162088-6959050
ABR, ALOX15, ARRB2, ASPA, ATP2A3, C1QBP, CHRNE, CRK, CTNS, DPH1, ENO3, GP1BA, HIC1, ITGAE, MNT, MYO1C, NUP88, OR1D2, OR3A1, OR3A2, P2RX1, P2RX5, PAFAH1B1, SERPINF1, PFN1, PITPNA, PLD2, SERPINF2, PSMB6, RPA1, UBE2G1, TRPV1, YWHAE, ZNF232, OR1A1, OR1D5, OR1E1, OR1E2, OR1E3, OR1G1, OR3A3, SLC25A11, DOC2B, SCARF1, TM4SF5, USP6, RABEP1, RPH3AL, SPAG7, KIAA0753, SGSM2, MYBBP1A, PRPF8, KIF1C, NLRP1, RAP1GAP2, CAMTA2, ZZEF1, CLUH, SMG6, WSCD1, SHPK, AIPL1, RNF167, OR1A2, PELP1, TIMM22, TAX1BP3, MINK1, GEMIN4, MED31, DERL2, GLOD4, ANKFY1, INPP5K, PIMREG, XAF1, SLC52A1, MRM3, VPS53, NCBP3, TSR1, DHX33, CXCL16, SRR, NXN, MIS12, METTL16, TLCD3A, PITPNM3, EMC6, RILP, TEKT1, HASPIN, ZMYND15, CAMKK1, RPAIN, ZNF594, SPATA22, TXNDC17, MIR22HG, SMYD4, OVCA2, SLC43A2, CYB5D2, ZFP3, GGT6, SPNS2, WDR81, RTN4RL1, TRPV3, FBXO39, SPNS3, LOC284009, VMO1, SLC13A5, TRARG1, LOC339166, SMTNL2, RFLNB, GLTPD2, INCA1, SCIMP, C17orf100, C17orf97, LINC01996, MED11, MIR132, MIR212, MIR22, OR1D4, SNORD91A, SNORD91B, BHLHA9, TLCD2, LOC728392, C17orf107, LOC100130950, LOC100288728, MIR1253, PITPNA-AS1, MIR3183, LINC02091, LOC100506388, P2RX5-TAX1BP3, MIR4520-1, MIR4520-2, LOC101559451, LOC101927727, LOC101927839, LOC101927911, LOC101928000, CCDC92B, MIR6776, MIR6864, MIR6865, KIF1C-AS1, LOC105371430, LOC105371485, LINC01975, DHX33-DT, LOC105371592, LOC106799838, LOC107984973, LOC107988047, LOC110120951, LOC110121369, LOC111413025, LOC111556120, LOC112529892, LOC112529893, LOC112529901, LOC112529915, LOC112533656, LOC112533657
See casesPathogenic
(Jun 30, 2010)
no assertion criteria providedVCV000144699
5.
GRCh37:
Chr17:50690-7394448
GRCh38:
Chr17:198748-7491129
SLC16A11, FBXO39, SLC16A13, SPEM2, SPNS3, TMEM256, BCL6B, LOC284009, VMO1, SLC13A5, TMEM102, TRARG1, LOC339166, TMEM95, SMTNL2, RFLNB, SPEM1, GLTPD2, INCA1, SCIMP, C17orf100, C17orf97, LINC01996, MED11, MIR132, MIR195, MIR212, MIR22, RNASEK, MIR324, MIR497, SLC35G6, OR1D4, SNORD91A, SNORD91B, BHLHA9, TLCD2, LOC728392, C17orf107, LOC100130950, LOC100288728, MIR1253, PITPNA-AS1, MIR3183, LOC100506388, ALOX12-AS1, MIR497HG, RNASEK-C17orf49, TMEM256-PLSCR3, P2RX5-TAX1BP3, MIR4520-1, MIR4520-2, LOC101559451, LOC101927727, LOC101927839, LOC101927911, LOC101928000, CCDC92B, MIR6776, MIR6864, MIR6865, KIF1C-AS1, LOC105371430, LOC105371485, LINC01975, DHX33-DT, LOC105371592, LOC106799838, SPEM3, LOC107984973, LOC107988047, LOC110120951, LOC110121369, LOC111413025, LOC111556120, LOC112529892, LOC112529893, LOC112529901, LOC112529915, LOC112533656, LOC112533657, LOC112533664, ABR, ACADVL, ALOX12, ALOX15, ARRB2, ASGR1, ASGR2, ASPA, ATP2A3, C1QBP, CHRNB1, CHRNE, CLDN7, CRK, CTNS, DLG4, DPH1, DVL2, EIF5A, ENO3, FGF11, GP1BA, GPS2, HIC1, ITGAE, MNT, MYO1C, NUP88, OR1D2, OR3A1, OR3A2, P2RX1, P2RX5, PAFAH1B1, SERPINF1, PFN1, PITPNA, PLD2, SERPINF2, POLR2A, PSMB6, RPA1, SLC2A4, UBE2G1, TRPV1, YWHAE, ZNF232, OR1A1, OR1D5, OR1E1, OR1E2, OR1E3, OR1G1, OR3A3, SLC25A11, SCARF1, TNK1, TM4SF5, USP6, RABEP1, RPH3AL, SPAG7, ACAP1, KIAA0753, SGSM2, CLEC10A, MYBBP1A, PRPF8, KIF1C, GABARAP, NLRP1, RAP1GAP2, CAMTA2, ZZEF1, CLUH, SMG6, WSCD1, CTDNEP1, ELP5, SHPK, AIPL1, RNF167, OR1A2, PELP1, TIMM22, TAX1BP3, MINK1, GEMIN4, MED31, DERL2, GLOD4, YBX2, ANKFY1, INPP5K, PIMREG, XAF1, SLC52A1, MRM3, VPS53, NCBP3, TSR1, DHX33, PLSCR3, NLGN2, ZBTB4, CXCL16, SRR, NXN, MIS12, METTL16, PHF23, TLCD3A, PITPNM3, EMC6, RILP, TEKT1, HASPIN, ZMYND15, CAMKK1, RPAIN, NEURL4, ZNF594, SPATA22, TXNDC17, MIR22HG, SMYD4, OVCA2, SLC43A2, CYB5D2, C17orf49, ZFP3, GGT6, SPNS2, WDR81, RTN4RL1, KCTD11, TRPV3
See casesPathogenic
(Jan 5, 2011)
no assertion criteria providedVCV000145642
6.
GRCh37:
Chr17:3504809-7081343
GRCh38:
Chr17:3601515-7178024
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059563
7.
GRCh37:
Chr17:5636273-11998666
GRCh38:
Chr17:5732953-12095349
EFNB3, EIF4A1, EIF5A, FGF11, GPS2, GUCY2D, MYH1, MYH2, MYH3, MYH4, MYH8, MYH10, PER1, PFAS, POLR2A, RCVRN, RPL26, SCO1, MAP2K4, SHBG, SLC2A4, SOX15, VAMP2, TP53, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, ZNF18, GAS7, TNK1, MYH13, TNFSF13, TNFSF12, KCNAB3, AURKB, GLP2R, NTN1, STX8, FXR2, MPDU1, ACAP1, KIAA0753, CLEC10A, GABARAP, ARHGEF15, KDM6B, WSCD1, CTDNEP1, PIK3R5, ELP5, AIPL1, SENP3, SNORA67, RANGRF, MED31, YBX2, PIMREG, XAF1, BORCS6, WRAP53, ADPRM, PLSCR3, NLGN2, ZBTB4, TRAPPC1, ALOXE3, PHF23, CTC1, NDEL1, PITPNM3, TEKT1, TMEM107, NAA38, NEURL4, HES7, TXNDC17, TMEM88, SAT2, CNTROB, CYB5D1, USP43, KRBA2, C17orf49, DNAH2, CFAP52, CCDC42, PIK3R6, ODF4, KCTD11, MFSD6L, SLC16A11, FBXO39, DHRS7C, SLC16A13, SPEM2, TMEM256, BCL6B, RNF227, LINC00324, SLC13A5, TMEM102, LOC339166, TMEM95, SPEM1, C17orf100, SPDYE4, TMEM220, SHISA6, SLC25A35, MIR195, TNFSF12-TNFSF13, RNASEK, MIR324, MIR497, SLC35G6, RNF222, GSG1L2, PIRT, SNORA48, SNORD10, SCARNA21, SNORD118, MIR744, LOC100128288, MYHAS, TRS-CGA1-1, TRW-CCA3-3, TRW-CCA1-1, TRP-CGG1-3, TRS-AGA2-6, TRT-AGT1-1, TRG-TCC3-1, TRT-AGT1-2, TRS-GCT4-3, TRD-GTC2-11, TRI-AAT5-5, TRI-AAT4-1, TRT-AGT5-1, TMEM238L, MIR4314, ALOX12-AS1, MIR497HG, RNASEK-C17orf49, TMEM256-PLSCR3, SENP3-EIF4A1, MIR4520-1, MIR4521, MIR4520-2, LOC100996842, TMEM220-AS1, LOC101928266, MIR6883, LOC106794092, SPEM3, LOC108254670, LOC111556120, LOC111828490, LOC112529894, LOC112529895, LOC112533656, LOC112533657, LOC112533664, LOC112533665, LOC112533683, LOC112533684, LOC112533685, LOC114827863, LOC116276454, ACADVL, ALOX12, ALOX12B, ALOX15B, ASGR1, ASGR2, ATP1B2, CD68, CHD3, CHRNB1, CLDN7, DLG4, DNAH9, DVL2
See casesPathogenic
(Sep 30, 2010)
no assertion criteria providedVCV000145484
8.
GRCh37:
Chr17:5636297-7942140
GRCh38:
Chr17:5732977-8038822
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057356
9.
GRCh37:
Chr17:6264713-7654181
GRCh38:
Chr17:6361393-7750863
See casesLikely pathogenic
(Mar 9, 2012)
no assertion criteria providedVCV000149166
10.
GRCh37:
Chr17:6589532
GRCh38:
Chr17:6686213
SLC13A5E567D, E521D, E524D, E550Dnot providedUncertain significance
(Mar 6, 2017)
criteria provided, single submitterVCV000423929
11.
GRCh37:
Chr17:6589536-6589537
GRCh38:
Chr17:6686217-6686218
SLC13A5Epileptic encephalopathy, early infantile, 25Uncertain significance
(Nov 6, 2018)
criteria provided, single submitterVCV000660015
12.
GRCh37:
Chr17:6589560
GRCh38:
Chr17:6686241
SLC13A5P558L, P512L, P515L, P541LEpileptic encephalopathy, early infantile, 25Uncertain significance
(Nov 6, 2018)
criteria provided, single submitterVCV000580380
13.
GRCh37:
Chr17:6589601
GRCh38:
Chr17:6686282
SLC13A5not providedLikely benign
(May 7, 2018)
criteria provided, single submitterVCV000759376
14.
GRCh37:
Chr17:6589604
GRCh38:
Chr17:6686285
SLC13A5not specifiedLikely benign
(Mar 9, 2016)
criteria provided, single submitterVCV000384138
15.
GRCh37:
Chr17:6589605
GRCh38:
Chr17:6686286
SLC13A5A543D, A497D, A500D, A526DEpileptic encephalopathy, early infantile, 25Uncertain significance
(Dec 9, 2017)
criteria provided, single submitterVCV000541967
16.
GRCh37:
Chr17:6589618
GRCh38:
Chr17:6686299
SLC13A5C493R, C496R, C522R, C539REpileptic encephalopathy, early infantile, 25Uncertain significance
(Sep 27, 2018)
criteria provided, single submitterVCV000639696
17.
GRCh37:
Chr17:6589649
GRCh38:
Chr17:6686330
SLC13A5not specified, Epileptic encephalopathy, early infantile, 25Likely benign
(Nov 12, 2017)
criteria provided, multiple submitters, no conflictsVCV000384178
18.
GRCh37:
Chr17:6589651
GRCh38:
Chr17:6686332
SLC13A5T528A, T482A, T485A, T511AEpileptic encephalopathy, early infantile, 25, not providedUncertain significance
(Jan 6, 2019)
criteria provided, multiple submitters, no conflictsVCV000452183
19.
GRCh37:
Chr17:6589670
GRCh38:
Chr17:6686351
SLC13A5not specifiedLikely benign
(Feb 15, 2018)
criteria provided, single submitterVCV000391183
20.
GRCh37:
Chr17:6589883
GRCh38:
Chr17:6686564
SLC13A5not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000670105
21.
GRCh37:
Chr17:6590820
GRCh38:
Chr17:6687501
SLC13A5not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000670104
22.
GRCh37:
Chr17:6590838
GRCh38:
Chr17:6687519
SLC13A5not providedLikely benign
(Feb 4, 2019)
criteria provided, single submitterVCV000763010
23.
GRCh37:
Chr17:6590843
GRCh38:
Chr17:6687524
SLC13A5Epileptic encephalopathy, early infantile, 25Uncertain significance
(Oct 22, 2018)
criteria provided, single submitterVCV000662875
24.
GRCh37:
Chr17:6590853
GRCh38:
Chr17:6687534
SLC13A5D524H, D481H, D507HEpileptic encephalopathy, early infantile, 25Pathogenic
(Nov 1, 2015)
no assertion criteria providedVCV000218174
25.
GRCh37:
Chr17:6590860
GRCh38:
Chr17:6687541
SLC13A5not providedLikely benign
(Aug 30, 2018)
criteria provided, single submitterVCV000739333
26.
GRCh37:
Chr17:6590912
GRCh38:
Chr17:6687593
SLC13A5L461fs, L487fs, L504fsnot providedLikely pathogenic
(Jan 20, 2017)
criteria provided, single submitterVCV000449231
27.
GRCh37:
Chr17:6590915
GRCh38:
Chr17:6687596
SLC13A5M486T, M460T, M503TEpileptic encephalopathy, early infantile, 25Uncertain significance
(Nov 30, 2018)
criteria provided, single submitterVCV000638888
28.
GRCh37:
Chr17:6590926
GRCh38:
Chr17:6687607
SLC13A5not providedLikely benign
(May 30, 2018)
criteria provided, single submitterVCV000750013
29.
GRCh37:
Chr17:6590932-6590940
GRCh38:
Chr17:6687615-6687623
SLC13A5Epileptic encephalopathy, early infantile, 25Uncertain significance
(Sep 7, 2018)
criteria provided, single submitterVCV000664190
30.
GRCh37:
Chr17:6590938
GRCh38:
Chr17:6687619
SLC13A5SeizuresLikely benign
(Dec 14, 2016)
criteria provided, single submitterVCV000589984
31.
GRCh37:
Chr17:6590948
GRCh38:
Chr17:6687629
SLC13A5L492P, L475P, L449PEpileptic encephalopathy, early infantile, 25Likely pathogenic
(Dec 31, 2017)
criteria provided, single submitterVCV000375390
32.
GRCh37:
Chr17:6590960
GRCh38:
Chr17:6687641
SLC13A5L488P, L471P, L445PEpileptic encephalopathy, early infantile, 25Likely pathogenic
(Jan 1, 2014)
criteria provided, single submitterVCV000140754
33.
GRCh37:
Chr17:6590962
GRCh38:
Chr17:6687643
SLC13A5not specified, not providedLikely benign
(Feb 8, 2019)
criteria provided, multiple submitters, no conflictsVCV000383584
34.
GRCh37:
Chr17:6590973
GRCh38:
Chr17:6687654
SLC13A5G484S, G441S, G467SEpileptic encephalopathy, early infantile, 25Uncertain significance
(Apr 25, 2017)
criteria provided, single submitterVCV000475195
35.
GRCh37:
Chr17:6590976
GRCh38:
Chr17:6687657
SLC13A5I483V, I440V, I466VEpileptic encephalopathy, early infantile, 25Uncertain significance
(May 10, 2017)
criteria provided, single submitterVCV000475194
36.
GRCh37:
Chr17:6590982
GRCh38:
Chr17:6687663
SLC13A5R438C, R464C, R481CEpileptic encephalopathy, early infantile, 25Uncertain significance
(Aug 2, 2018)
criteria provided, single submitterVCV000659306
37.
GRCh37:
Chr17:6590989
GRCh38:
Chr17:6687670
SLC13A5not specified, not providedLikely benign
(Feb 20, 2019)
criteria provided, multiple submitters, no conflictsVCV000390295
38.
GRCh37:
Chr17:6591041
GRCh38:
Chr17:6687722
SLC13A5not providedLikely benign
(Jun 16, 2018)
criteria provided, single submitterVCV000677509
39.
GRCh37:
Chr17:6591067
GRCh38:
Chr17:6687748
SLC13A5not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000673998
40.
GRCh37:
Chr17:6591149
GRCh38:
Chr17:6687830
SLC13A5not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000670102
41.
GRCh37:
Chr17:6594014
GRCh38:
Chr17:6690695
SLC13A5not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000670103
42.
GRCh37:
Chr17:6594083
GRCh38:
Chr17:6690764
SLC13A5not specifiedLikely benign
(Jun 6, 2017)
criteria provided, single submitterVCV000509975
43.
GRCh37:
Chr17:6594115
GRCh38:
Chr17:6690796
SLC13A5P474S, P457S, P431SSeizuresUncertain significance
(Feb 10, 2017)
criteria provided, single submitterVCV000590068
44.
GRCh37:
Chr17:6594130
GRCh38:
Chr17:6690811
SLC13A5T426A, T469A, T452AEpileptic encephalopathy, early infantile, 25Uncertain significance
(Nov 27, 2018)
criteria provided, single submitterVCV000664438
45.
GRCh37:
Chr17:6594140
GRCh38:
Chr17:6690821
SLC13A5not specified, not provided, Seizures
Benign/Likely benign
(Feb 8, 2019)
criteria provided, multiple submitters, no conflictsVCV000384844
46.
GRCh37:
Chr17:6594163
GRCh38:
Chr17:6690844
SLC13A5V458M, V441M, V415MEpileptic encephalopathy, early infantile, 25, not providedUncertain significance
(Jan 17, 2019)
criteria provided, multiple submitters, no conflictsVCV000380207
47.
GRCh37:
Chr17:6594169
GRCh38:
Chr17:6690850
SLC13A5V456I, V439I, V413IEpileptic encephalopathy, early infantile, 25Uncertain significance
(Nov 26, 2018)
criteria provided, single submitterVCV000475193
48.
GRCh37:
Chr17:6594170
GRCh38:
Chr17:6690851
SLC13A5not specifiedLikely benign
(Jan 26, 2016)
criteria provided, single submitterVCV000383133
49.
GRCh37:
Chr17:6594199
GRCh38:
Chr17:6690880
SLC13A5A446P, A403P, A429PEpileptic encephalopathy, early infantile, 25Uncertain significance
(Nov 10, 2018)
criteria provided, single submitterVCV000541961
50.
GRCh37:
Chr17:6594201
GRCh38:
Chr17:6690882
SLC13A5P445L, P402L, P428LEpileptic encephalopathy, early infantile, 25Uncertain significance
(Oct 3, 2017)
criteria provided, single submitterVCV000541962
51.
GRCh37:
Chr17:6594205
GRCh38:
Chr17:6690886
SLC13A5P444S, P427S, P401Snot specified, SeizuresConflicting interpretations of pathogenicity
(Nov 30, 2016)
criteria provided, conflicting interpretationsVCV000373627
52.
GRCh37:
Chr17:6594212
GRCh38:
Chr17:6690893
SLC13A5not specifiedLikely benign
(Nov 28, 2017)
criteria provided, single submitterVCV000513770
53.
GRCh37:
Chr17:6594226
GRCh38:
Chr17:6690907
SLC13A5M437L, M420L, M394LEpileptic encephalopathy, early infantile, 25Uncertain significance
(Sep 30, 2017)
criteria provided, single submitterVCV000541964
54.
GRCh37:
Chr17:6594235
GRCh38:
Chr17:6690916
SLC13A5G434R, G391R, G417REpileptic encephalopathy, early infantile, 25Uncertain significance
(May 18, 2018)
criteria provided, single submitterVCV000578627
55.
GRCh37:
Chr17:6594237
GRCh38:
Chr17:6690918
SLC13A5M433T, M416T, M390Tnot providedUncertain significance
(Mar 3, 2017)
criteria provided, single submitterVCV000423843
56.
GRCh37:
Chr17:6594244
GRCh38:
Chr17:6690925
SLC13A5V431M, V414M, V388Mnot providedLikely benign
(Sep 17, 2018)
criteria provided, single submitterVCV000475192
57.
GRCh37:
Chr17:6594245
GRCh38:
Chr17:6690926
SLC13A5not specified, not providedLikely benign
(Apr 1, 2018)
criteria provided, multiple submitters, no conflictsVCV000383885
58.
GRCh37:
Chr17:6594254
GRCh38:
Chr17:6690935
SLC13A5not specifiedLikely benign
(Jun 15, 2016)
criteria provided, single submitterVCV000386959
59.
GRCh37:
Chr17:6594255
GRCh38:
Chr17:6690936
SLC13A5S427L, S384L, S410LEpileptic encephalopathy, early infantile, 25Pathogenic
(Nov 1, 2015)
no assertion criteria providedVCV000218170
60.
GRCh37:
Chr17:6594260
GRCh38:
Chr17:6690941
SLC13A5Epileptic encephalopathy, early infantile, 25Likely pathogenic
(May 28, 2019)
criteria provided, single submitterVCV000803300
61.
GRCh37:
Chr17:6594278
GRCh38:
Chr17:6690959
SLC13A5not specifiedLikely benign
(Sep 14, 2017)
criteria provided, single submitterVCV000385837
62.
GRCh37:
Chr17:6594322
GRCh38:
Chr17:6691003
SLC13A5not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000671721
63.
GRCh37:
Chr17:6594577
GRCh38:
Chr17:6691258
SLC13A5not providedBenign
(Jun 18, 2018)
criteria provided, single submitterVCV000668855
64.
GRCh37:
Chr17:6596159
GRCh38:
Chr17:6692840
SLC13A5not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000673997
65.
GRCh37:
Chr17:6596212
GRCh38:
Chr17:6692893
SLC13A5not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000677353
66.
GRCh37:
Chr17:6596365
GRCh38:
Chr17:6693046
SLC13A5E408K, E425K, E382KEpileptic encephalopathy, early infantile, 25Uncertain significance
(Dec 14, 2018)
criteria provided, single submitterVCV000651550
67.
GRCh37:
Chr17:6596398
GRCh38:
Chr17:6693079
SLC13A5L414V, L397V, L371VEpileptic encephalopathy, early infantile, 25Uncertain significance
(May 23, 2018)
criteria provided, single submitterVCV000568321
68.
GRCh37:
Chr17:6596408
GRCh38:
Chr17:6693089
SLC13A5not providedLikely benign
(Feb 21, 2019)
criteria provided, single submitterVCV000715280
69.
GRCh37:
Chr17:6596411
GRCh38:
Chr17:6693092
SLC13A5not providedPathogenic
(Nov 24, 2016)
criteria provided, single submitterVCV000373238
70.
GRCh37:
Chr17:6596421-6596431
GRCh38:
Chr17:6693102-6693112
SLC13A5Epileptic encephalopathy, early infantile, 25Pathogenic
(Nov 1, 2015)
no assertion criteria providedVCV000218172
71.
GRCh37:
Chr17:6596432
GRCh38:
Chr17:6693113
SLC13A5not providedLikely benign
(Aug 22, 2018)
criteria provided, single submitterVCV000715095
72.
GRCh37:
Chr17:6596440
GRCh38:
Chr17:6693121
SLC13A5K357Q, K383Q, K400QEpileptic encephalopathy, early infantile, 25Uncertain significance
(Nov 17, 2018)
criteria provided, single submitterVCV000644947
73.
GRCh37:
Chr17:6596450
GRCh38:
Chr17:6693131
SLC13A5Epileptic encephalopathy, early infantile, 25Likely benign
(Nov 17, 2017)
criteria provided, single submitterVCV000541973
74.
GRCh37:
Chr17:6596473
GRCh38:
Chr17:6693154
SLC13A5T389A, T372A, T346Anot providedUncertain significance
(Sep 28, 2017)
criteria provided, single submitterVCV000452331
75.
GRCh37:
Chr17:6596485
GRCh38:
Chr17:6693166
SLC13A5not providedLikely benign
(Dec 15, 2018)
criteria provided, single submitterVCV000793419
76.
GRCh37:
Chr17:6596634
GRCh38:
Chr17:6693315
SLC13A5not providedLikely benign
(Jun 19, 2018)
criteria provided, single submitterVCV000678184
77.
GRCh37:
Chr17:6596660
GRCh38:
Chr17:6693341
SLC13A5not providedLikely benign
(Jun 19, 2018)
criteria provided, single submitterVCV000677610
78.
GRCh37:
Chr17:6596685
GRCh38:
Chr17:6693366
SLC13A5not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000672969
79.
GRCh37:
Chr17:6597246
GRCh38:
Chr17:6693927
SLC13A5not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000670101
80.
GRCh37:
Chr17:6597382
GRCh38:
Chr17:6694063
SLC13A5not providedLikely benign
(Jun 16, 2018)
criteria provided, single submitterVCV000677514
81.
GRCh37:
Chr17:6597407
GRCh38:
Chr17:6694088
SLC13A5not provided, not specifiedLikely benign
(Feb 18, 2019)
criteria provided, multiple submitters, no conflictsVCV000383254
82.
GRCh37:
Chr17:6597415
GRCh38:
Chr17:6694096
SLC13A5Epileptic encephalopathy, early infantile, 25Likely pathogenic
(Sep 22, 2018)
criteria provided, single submitterVCV000475191
83.
GRCh37:
Chr17:6597431
GRCh38:
Chr17:6694112
SLC13A5S338fs, S364fs, S381fsnot providedLikely pathogenic
(Feb 28, 2018)
criteria provided, single submitterVCV000546784
84.
GRCh37:
Chr17:6597448
GRCh38:
Chr17:6694129
SLC13A5P375H, P332H, P358HSeizuresUncertain significance
(May 31, 2017)
criteria provided, single submitterVCV000589204
85.
GRCh37:
Chr17:6597471
GRCh38:
Chr17:6694152
SLC13A5not specified, not provided, Seizures
Benign/Likely benign
(Feb 27, 2019)
criteria provided, multiple submitters, no conflictsVCV000380942
86.
GRCh37:
Chr17:6597474
GRCh38:
Chr17:6694155
SLC13A5not providedLikely benign
(Mar 29, 2018)
criteria provided, single submitterVCV000738442
87.
GRCh37:
Chr17:6597477
GRCh38:
Chr17:6694158
SLC13A5not specified, not provided, Seizures
Likely benign
(Dec 14, 2018)
criteria provided, multiple submitters, no conflictsVCV000388054
88.
GRCh37:
Chr17:6597480
GRCh38:
Chr17:6694161
SLC13A5Seizures, not specified, not provided
Benign
(Apr 20, 2017)
criteria provided, multiple submitters, no conflictsVCV000380900
89.
GRCh37:
Chr17:6597495
GRCh38:
Chr17:6694176
SLC13A5Seizures, not providedBenign/Likely benign
(Jan 27, 2019)
criteria provided, multiple submitters, no conflictsVCV000541972
90.
GRCh37:
Chr17:6597504
GRCh38:
Chr17:6694185
SLC13A5not providedLikely benign
(Oct 8, 2018)
criteria provided, single submitterVCV000755032
91.
GRCh37:
Chr17:6597506
GRCh38:
Chr17:6694187
SLC13A5D356N, D339N, D313NSeizuresUncertain significance
(Apr 4, 2017)
criteria provided, single submitterVCV000588924
92.
GRCh37:
Chr17:6597507
GRCh38:
Chr17:6694188
SLC13A5not specified, not providedLikely benign
(May 29, 2018)
criteria provided, multiple submitters, no conflictsVCV000475190
93.
GRCh37:
Chr17:6597520
GRCh38:
Chr17:6694201
SLC13A5Epileptic encephalopathy, early infantile, 25Likely benign
(Apr 27, 2017)
criteria provided, single submitterVCV000475189
94.
GRCh37:
Chr17:6597521
GRCh38:
Chr17:6694202
SLC13A5not providedLikely benign
(Dec 8, 2017)
criteria provided, single submitterVCV000734724
95.
GRCh37:
Chr17:6597778
GRCh38:
Chr17:6694459
SLC13A5not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000669407
96.
GRCh37:
Chr17:6599029
GRCh38:
Chr17:6695710
SLC13A5not specifiedLikely benign
(Mar 2, 2017)
criteria provided, single submitterVCV000517770
97.
GRCh37:
Chr17:6599030
GRCh38:
Chr17:6695711
SLC13A5not specifiedLikely benign
(Jan 28, 2016)
criteria provided, single submitterVCV000383100
98.
GRCh37:
Chr17:6599058
GRCh38:
Chr17:6695739
SLC13A5E348K, E331K, E305Knot providedUncertain significance
(Mar 3, 2017)
criteria provided, single submitterVCV000423842
99.
GRCh37:
Chr17:6599063
GRCh38:
Chr17:6695744
SLC13A5W346L, W303L, W329Lnot provided, SeizuresConflicting interpretations of pathogenicity
(Jun 11, 2018)
criteria provided, conflicting interpretationsVCV000475188
100.
GRCh37:
Chr17:6599078
GRCh38:
Chr17:6695759
SLC13A5W341*, W298*, W324*Epileptic encephalopathy, early infantile, 25Pathogenic
(Jul 4, 2018)
criteria provided, single submitterVCV000218171
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