148738[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 574091.	GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3 GRCh37: Chr1:145451329-156102366 GRCh38: Chr1:120836007-149583533	MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF15, NBPF19, NBPF20, NBPF26, NBPF9, NOTCH2NLA, NOTCH2NLB, NOTCH2NLC, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4A, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-15, RNVU1-17, RNVU1-18, RNVU1-19, RNVU1-2A, RNVU1-3, RNVU1-4, RNVU1-6, RNVU1-7, RNVU1-8, SRGAP2-AS1, SRGAP2B, SRGAP2C, TRE-CTC1-1, TRG-CCC6-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRH-GTG2-1, TRK-CTT2-1, TRN-GTT10-1, TRN-GTT11-1, TRN-GTT12-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT2-8, TRN-GTT24-1, TRN-GTT25-1, TRN-GTT27-1, TRN-GTT3-1, TRN-GTT6-1, TRN-GTT7-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG4-2, TRQ-CTG7-1, TRV-CAC4-1, TRV-CAC5-1, TRV-CAC8-1, TXNIP, ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FAM72B, FAM72C, FAM72D, FMO5, GJA5, GJA8, GPR89A, GPR89B, H3-7, HJV, ITGA10, LINC00623, LINC00624, LINC01138, LINC01145, LINC01691, LINC01719, LINC01731, LINC02591, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996318, LOC100996720, LOC100996740, LOC101927468, LOC105371215, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577489, LOC112577490, LOC113939979, LOC120893158, LOC121725051, LOC121725052, LOC121725053, LOC122094912, LOC122094913, LOC122094915, LOC122128410, LOC122128412, LOC122128413, LOC122128414, LOC122128415, LOC122128416, LOC122128417, LOC122128418, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1530612.	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 GRCh37: Chr1:145747242-149155026 GRCh38: Chr1:143515074-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FAM72C, FAM72D, FMO5, GJA5, GJA8, GPR89A, GPR89B, H3-7, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02591, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC105371215, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC113939979, LOC120893158, LOC121725051, LOC121725052, LOC121725053, LOC122094913, LOC122128410, LOC122128414, LOC122128415, LOC122128417, LOC122128418, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF15, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-15, RNVU1-17, RNVU1-18, RNVU1-2A, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, SRGAP2B, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT10-1, TRN-GTT12-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT2-8, TRN-GTT24-1, TRN-GTT3-1, TRN-GTT6-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG4-2, TRQ-CTG7-1, TRV-CAC4-1, TRV-CAC8-1, TXNIP		See cases	Pathogenic (Feb 6, 2013)	no assertion criteria provided
Select item 1509763.	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1 GRCh37: Chr1:145415156-149433207 GRCh38: Chr1:143515074-149563337	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FAM72C, FAM72D, FMO5, GJA5, GJA8, GPR89A, GPR89B, H3-7, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02591, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC105371215, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC113939979, LOC120893158, LOC121725051, LOC121725052, LOC121725053, LOC122094913, LOC122128410, LOC122128414, LOC122128415, LOC122128417, LOC122128418, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF15, NBPF19, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NOTCH2NLC, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-15, RNVU1-17, RNVU1-18, RNVU1-2A, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, SRGAP2B, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRH-GTG2-1, TRK-CTT2-1, TRN-GTT10-1, TRN-GTT12-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT2-8, TRN-GTT24-1, TRN-GTT25-1, TRN-GTT3-1, TRN-GTT6-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG4-2, TRQ-CTG7-1, TRV-CAC4-1, TRV-CAC8-1, TXNIP		See cases	Pathogenic (Sep 21, 2012)	no assertion criteria provided
Select item 1483614.	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 GRCh37: Chr1:145626237-149244468 GRCh38: Chr1:143515074-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FAM72C, FAM72D, FMO5, GJA5, GJA8, GPR89A, GPR89B, H3-7, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02591, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC105371215, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC113939979, LOC120893158, LOC121725051, LOC121725052, LOC121725053, LOC122094913, LOC122128410, LOC122128414, LOC122128415, LOC122128417, LOC122128418, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF15, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-15, RNVU1-17, RNVU1-18, RNVU1-2A, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, SRGAP2B, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRH-GTG2-1, TRK-CTT2-1, TRN-GTT10-1, TRN-GTT12-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT2-8, TRN-GTT24-1, TRN-GTT3-1, TRN-GTT6-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG4-2, TRQ-CTG7-1, TRV-CAC4-1, TRV-CAC8-1, TXNIP		See cases	Pathogenic (Aug 13, 2012)	no assertion criteria provided
Select item 1477105.	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3 GRCh37: Chr1:145425395-149091187 GRCh38: Chr1:143515074-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FAM72C, FAM72D, FMO5, GJA5, GJA8, GPR89A, GPR89B, H3-7, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02591, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC105371215, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC113939979, LOC120893158, LOC121725051, LOC121725052, LOC121725053, LOC122094913, LOC122128410, LOC122128414, LOC122128415, LOC122128417, LOC122128418, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF15, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-15, RNVU1-17, RNVU1-18, RNVU1-2A, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, SRGAP2B, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT10-1, TRN-GTT12-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT2-8, TRN-GTT24-1, TRN-GTT3-1, TRN-GTT6-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG4-2, TRQ-CTG7-1, TRV-CAC4-1, TRV-CAC8-1, TXNIP		See cases	Pathogenic (Oct 19, 2010)	no assertion criteria provided
Select item 584916.	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 GRCh37: Chr1:145655992-149232481 GRCh38: Chr1:143515074-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FAM72C, FAM72D, FMO5, GJA5, GJA8, GPR89A, GPR89B, H3-7, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02591, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC105371215, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC113939979, LOC120893158, LOC121725051, LOC121725052, LOC121725053, LOC122094913, LOC122128410, LOC122128414, LOC122128415, LOC122128417, LOC122128418, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF15, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-15, RNVU1-17, RNVU1-18, RNVU1-2A, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, SRGAP2B, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRH-GTG2-1, TRK-CTT2-1, TRN-GTT10-1, TRN-GTT12-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT2-8, TRN-GTT24-1, TRN-GTT3-1, TRN-GTT6-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG4-2, TRQ-CTG7-1, TRV-CAC4-1, TRV-CAC8-1, TXNIP		See cases	Pathogenic (Jan 13, 2012)	no assertion criteria provided
Select item 580897.	GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3 GRCh37: Chr1:1-1676126 GRCh38: Chr1:143965076-149471555	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FAM72C, FAM72D, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC105371215, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC113939979, LOC120893158, LOC121725051, LOC121725052, LOC121725053, LOC122094913, LOC122128410, LOC122128414, LOC122128415, LOC122128417, LOC122128418, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF15, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NOTCH2NLC, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-15, RNVU1-2A, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, SRGAP2B, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT10-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT2-8, TRN-GTT24-1, TRN-GTT3-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1530668.	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 GRCh37: Chr1:146500972-148809863 GRCh38: Chr1:144572470-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FAM72D, FMO5, ITGA10, GJA5, GJA8, GPR89A, GPR89B, HJV, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC105371215, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC120893158, LOC121725051, LOC121725052, LOC121725053, LOC122094913, LOC122128410, LOC122128415, LOC122128418, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4F, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, SRGAP2B, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT10-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Likely pathogenic	no assertion criteria provided
Select item 1520319.	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 GRCh37: Chr1:145415190-148809863 GRCh38: Chr1:144572470-149076087	NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4F, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, SRGAP2B, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT10-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP, ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FAM72D, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC105371215, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC120893158, LOC121725051, LOC121725052, LOC121725053, LOC122094913, LOC122128410, LOC122128415, LOC122128418, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NBPF9		See cases	Pathogenic (Oct 24, 2012)	no assertion criteria provided
Select item 14857310.	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 GRCh37: Chr1:145788863-148809863 GRCh38: Chr1:144572470-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FAM72D, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC105371215, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC120893158, LOC121725051, LOC121725052, LOC121725053, LOC122094913, LOC122128410, LOC122128415, LOC122128418, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4F, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, SRGAP2B, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT10-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (May 27, 2011)	no assertion criteria provided
Select item 14680811.	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 GRCh37: Chr1:145799556-148867640 GRCh38: Chr1:144572470-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FAM72D, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC105371215, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC120893158, LOC121725051, LOC121725052, LOC121725053, LOC122094913, LOC122128410, LOC122128415, LOC122128418, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4F, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, SRGAP2B, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT10-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Oct 30, 2010)	no assertion criteria provided
Select item 5935112.	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 GRCh37: Chr1:145764368-148752268 GRCh38: Chr1:144572470-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FAM72D, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC105371215, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC120893158, LOC121725051, LOC121725052, LOC121725053, LOC122094913, LOC122128410, LOC122128415, LOC122128418, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4F, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, SRGAP2B, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT10-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5934913.	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 GRCh37: Chr1:145746912-148752268 GRCh38: Chr1:144572470-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FAM72D, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC105371215, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC120893158, LOC121725051, LOC121725052, LOC121725053, LOC122094913, LOC122128410, LOC122128415, LOC122128418, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4F, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, SRGAP2B, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT10-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 14536914.	GRCh38/hg38 1q21.1(chr1:145138148-146401981)x1 GRCh37: Chr1:149155041-149699396 GRCh38: Chr1:145138148-146401981	ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LINC01145, LINC01719, LIX1L, LIX1L-AS1, LOC100996740, LOC100996741, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NBPF10, NBPF20, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4H, RBM8A, RNF115, RNVU1-14, RNVU1-6, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG2-1, TRK-CTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRQ-CTG3-1, TXNIP		See cases	Benign (Nov 30, 2010)	no assertion criteria provided
Select item 16096815.	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 GRCh37: Chr1:146143189-148545520 GRCh38: Chr1:145215697-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 16095216.	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 GRCh37: Chr1:145987156-148545520 GRCh38: Chr1:145215697-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 16092517.	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 GRCh37: Chr1:146143189-148545520 GRCh38: Chr1:145215697-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 15473718.	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 GRCh37: Chr1:146526310-148535229 GRCh38: Chr1:145215697-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Sep 27, 2013)	no assertion criteria provided
Select item 15459919.	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 GRCh37: Chr1:146571304-148545520 GRCh38: Chr1:145215697-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 15444420.	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 GRCh37: Chr1:145655992-148545520 GRCh38: Chr1:145215697-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Aug 27, 2010)	no assertion criteria provided
Select item 15441321.	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 GRCh37: Chr1:146507649-148545664 GRCh38: Chr1:145215697-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Sep 21, 2012)	no assertion criteria provided
Select item 14942022.	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x4 GRCh37: Chr1:146500972-148535229 GRCh38: Chr1:145215697-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Jan 25, 2013)	no assertion criteria provided
Select item 14848523.	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 GRCh37: Chr1:146053414-148535229 GRCh38: Chr1:145215697-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Oct 24, 2012)	no assertion criteria provided
Select item 5935424.	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 GRCh37: Chr1:145764368-148346383 GRCh38: Chr1:145215697-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5933725.	GRCh38/hg38 1q21.1-21.2(chr1:145215697-148492647)x3 GRCh37: Chr1:145388356-148216139 GRCh38: Chr1:145215697-148492647	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF20, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5848826.	GRCh38/hg38 1q21.1-21.2(chr1:145215697-148534530)x1 GRCh37: Chr1:145451329-148309094 GRCh38: Chr1:145215697-148534530	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5720927.	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 GRCh37: Chr1:145799543-148545520 GRCh38: Chr1:145215697-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 3311628.	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 GRCh37: Chr1:145987156-148545520 GRCh38: Chr1:145215697-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Sep 18, 2013)	no assertion criteria provided
Select item 3215329.	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 GRCh37: Chr1:146143189-148545520 GRCh38: Chr1:145215697-149076087	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC100996740, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic/Likely pathogenic (Feb 14, 2018)	no assertion criteria provided
Select item 14941930.	GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 GRCh37: Chr1:146500972-148535229 GRCh38: Chr1:145232830-148587578	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Jan 14, 2013)	no assertion criteria provided
Select item 14415831.	GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 GRCh37: Chr1:145987156-148545520 GRCh38: Chr1:145232830-148587578	ANKRD35, BCL9, CD160, LOC126805850, POLR3C, POLR3GL, PPIAL4D, CH17-408M7.1, LOC126805851, PPIAL4G, PPIAL4H, PRKAB2, TRQ-CTG7-1, TXNIP, LOC126805852, LOC126805853, RBM8A, RNF115, GPR89B, HJV, ITGA10, LINC00624, LOC126805854, LOC128071544, RNVU1-1, TRQ-CTG3-2, TRQ-CTG4-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT2-7, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, RNVU1-14, RNVU1-3, RNVU1-6, TRQ-CTG3-1, PDZK1, PEX11B, PIAS3, NBPF10, NBPF11, MIR6736, MIR5087, MIR6077, NBPF12, NBPF14, NBPF20, NOTCH2NLA, NUDT17, LOC122128420, LOC126805849, LOC121725053, LOC122128419, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LINC01138, LIX1L-AS1, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, ACP6, ANKRD34A, CHD1L, FMO5, GJA5, GJA8, GPR89A		See cases	Pathogenic (Feb 14, 2018)	no assertion criteria provided
Select item 5986432.	GRCh38/hg38 1q21.1(chr1:145335791-146133507)x1 GRCh37: Chr1:145304668-145738275 GRCh38: Chr1:145335791-146133507	ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LINC01719, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NBPF10, NBPF20, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, RNVU1-6, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TRN-GTT9-1, TRQ-CTG3-1, TXNIP		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5986033.	GRCh38/hg38 1q21.1-21.2(chr1:145335791-146944906)x1 GRCh37: Chr1:145271814-147848311 GRCh38: Chr1:145335791-146944906	ANKRD34A, ANKRD35, CD160, CH17-408M7.1, GPR89A, HJV, ITGA10, LINC01719, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NBPF10, NBPF12, NBPF20, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4H, RBM8A, RNF115, RNVU1-6, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TRN-GTT24-1, TRN-GTT9-1, TRQ-CTG3-1, TXNIP		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5972034.	GRCh38/hg38 1q21.1(chr1:145335791-146127929)x3 GRCh37: Chr1:145310253-145899398 GRCh38: Chr1:145335791-146127929	ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LINC01719, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NBPF10, NBPF20, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, RNVU1-6, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TRN-GTT9-1, TRQ-CTG3-1, TXNIP		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 5971935.	GRCh38/hg38 1q21.1(chr1:145335791-146146477)x3 GRCh37: Chr1:145291698-146037042 GRCh38: Chr1:145335791-146146477	ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LINC01719, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NBPF10, NBPF20, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, RNVU1-6, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TRN-GTT9-1, TRQ-CTG3-1, TXNIP		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 14602736.	GRCh38/hg38 1q21.1-21.2(chr1:145338382-148599763)x3 GRCh37: Chr1:145271815-148254822 GRCh38: Chr1:145338382-148599763	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Nov 30, 2010)	no assertion criteria provided
Select item 54514337.	NC_000001.11:g.(?_145430995)_(148427734_?)del GRCh38: Chr1:145430995-148427734	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		Schizophrenia	Pathogenic (Mar 20, 2018)	criteria provided, single submitter
Select item 54514238.	NC_000001.11:g.(?_145430995)_(148257619_?)del GRCh38: Chr1:145430995-148257619	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01719, LINC02805, LIX1L, LIX1L-AS1, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR6736, NBPF10, NBPF11, NBPF12, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRK-CTT2-1, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TXNIP		Schizophrenia	Pathogenic (Mar 20, 2018)	criteria provided, single submitter
Select item 14642239.	GRCh38/hg38 1q21.1(chr1:145439580-147036021)x3 GRCh37: Chr1:145425395-146507577 GRCh38: Chr1:145439580-147036021	ANKRD34A, ANKRD35, CD160, CH17-408M7.1, GPR89A, HJV, ITGA10, LINC01719, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, LOC126805852, MIR6736, NBPF10, NBPF12, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4H, RBM8A, RNF115, RNVU1-6, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TRN-GTT24-1, TRN-GTT9-1, TRQ-CTG3-1, TXNIP		See cases	Conflicting interpretations of pathogenicity (Jan 5, 2011)	no assertion criteria provided
Select item 3507640.	GRCh38/hg38 1q21.1-21.2(chr1:145439580-148359881)x1 GRCh37: Chr1:145425395-147909094 GRCh38: Chr1:145439580-148359881	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6736, NBPF10, NBPF11, NBPF12, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Feb 14, 2018)	no assertion criteria provided
Select item 54514441.	NC_000001.11:g.(?_145580669)_(149095000_?)del GRCh38: Chr1:145580669-149095000	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT24-1, TRN-GTT9-2, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		Schizophrenia	Pathogenic (Mar 20, 2018)	criteria provided, single submitter
Select item 54514842.	Single allele GRCh38: Chr1:145601945-148889374	LIX1L-AS1, LOC101927468, TRN-GTT2-1, TRN-GTT24-1, TRN-GTT9-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP, LOC106783502, LOC108254679, LOC110121261, LOC122128419, LOC122128420, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, LOC111556113, LOC112577490, LOC121725051, NBPF10, NBPF11, NBPF12, LOC121725052, LOC121725053, TRQ-CTG3-2, ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, ITGA10, GJA5, GJA8, GPR89A, GPR89B, HJV, LINC00624, LINC01138, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, NBPF14, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1		Schizophrenia	Likely pathogenic (Mar 20, 2018)	criteria provided, single submitter
Select item 54514743.	Single allele GRCh38: Chr1:145601945-146049618	LOC106783502, LOC108254679, LOC122128419, PDZK1, PEX11B, LOC126805849, LOC126805850, LOC126805851, PIAS3, RBM8A, POLR3C, POLR3GL, RNF115, TRE-CTC1-1, MIR6736, NUDT17, ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, LIX1L-AS1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TXNIP		Schizophrenia	Likely pathogenic (Mar 20, 2018)	criteria provided, single submitter
Select item 54514644.	NC_000001.11:g.(?_145601945)_(146048346_?)del GRCh38: Chr1:145601945-146048346	LOC126805849, LOC126805850, LOC126805851, MIR6736, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TXNIP, ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419		Schizophrenia	Likely pathogenic (Mar 20, 2018)	criteria provided, single submitter
Select item 54514545.	Single allele GRCh38: Chr1:145601945-146041785	ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TXNIP		Schizophrenia	Likely pathogenic (Mar 20, 2018)	criteria provided, single submitter
Select item 69222146.	NC_000001.11:g.145601946_148597425del GRCh38: Chr1:145601946-148597425	PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, CH17-408M7.1, LIX1L-AS1, LOC101927468, LOC106783502, LINC00624, LINC01138, LOC108254679, LOC110121261, LOC111556113, GPR89B, HJV, ITGA10, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CHD1L, FMO5, GJA5, GJA8, GPR89A, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NOTCH2NLA, NUDT17, PDZK1, TRN-GTT2-1, TRN-GTT24-1, TRN-GTT9-2, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		Radial aplasia-thrombocytopenia syndrome	Likely pathogenic (Sep 16, 2019)	no assertion criteria provided
Select item 15515547.	GRCh38/hg38 1q21.1(chr1:145601946-146065803)x1 GRCh37: Chr1:145369199-145888926 GRCh38: Chr1:145601946-146065803	ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LINC01719, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NBPF10, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, RNVU1-6, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TXNIP		See cases	Likely pathogenic (Mar 4, 2013)	no assertion criteria provided
Select item 15342448.	GRCh38/hg38 1q21.1(chr1:145601946-146052881)x1 GRCh37: Chr1:145382123-145888926 GRCh38: Chr1:145601946-146052881	ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LINC01719, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, RNVU1-6, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TXNIP		See cases	Likely benign (Jun 11, 2013)	no assertion criteria provided
Select item 15267349.	GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1 GRCh37: Chr1:145376675-147860552 GRCh38: Chr1:145601946-148572213	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, ITGA10, GJA5, GJA8, GPR89A, GPR89B, HJV, LINC00624, LINC01138, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT24-1, TRN-GTT9-2, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Apr 30, 2011)	no assertion criteria provided
Select item 15073050.	GRCh38/hg38 1q21.1(chr1:145601946-146046631)x1 GRCh37: Chr1:145388369-145899418 GRCh38: Chr1:145601946-146046631	ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TXNIP		See cases	Pathogenic (Sep 21, 2012)	no assertion criteria provided
Select item 14860051.	GRCh38/hg38 1q21.1(chr1:145601946-146019823)x1 GRCh37: Chr1:145415190-146053471 GRCh38: Chr1:145601946-146019823	ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP		See cases	Pathogenic (Aug 19, 2011)	no assertion criteria provided
Select item 14600952.	GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1 GRCh37: Chr1:145311043-147915048 GRCh38: Chr1:145601946-148572213	ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LIX1L-AS1, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT24-1, TRN-GTT9-2, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP		See cases	Pathogenic (Nov 30, 2010)	no assertion criteria provided
Select item 5986953.	GRCh38/hg38 1q21.1(chr1:145601946-146046645)x1 GRCh37: Chr1:145388355-145917640 GRCh38: Chr1:145601946-146046645	ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TXNIP		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5935354.	GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x3 GRCh37: Chr1:145764368-147800872 GRCh38: Chr1:145601946-146944906	ANKRD34A, ANKRD35, CD160, CH17-408M7.1, GPR89A, HJV, ITGA10, LINC01719, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NBPF10, NBPF12, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4H, RBM8A, RNF115, RNVU1-6, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TRN-GTT24-1, TXNIP		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5935255.	GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x3 GRCh37: Chr1:145764368-147718449 GRCh38: Chr1:145601946-146944906	ANKRD34A, ANKRD35, CD160, CH17-408M7.1, GPR89A, HJV, ITGA10, LINC01719, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NBPF10, NBPF12, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4H, RBM8A, RNF115, RNVU1-6, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TRN-GTT24-1, TXNIP		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5849456.	GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x1 GRCh37: Chr1:145787561-147800872 GRCh38: Chr1:145601946-146944906	ANKRD34A, ANKRD35, CD160, CH17-408M7.1, GPR89A, HJV, ITGA10, LINC01719, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NBPF10, NBPF12, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4H, RBM8A, RNF115, RNVU1-6, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TRN-GTT24-1, TXNIP		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 15553457.	GRCh38/hg38 1q21.1(chr1:145605589-146057729)x1 GRCh37: Chr1:145377276-145829474 GRCh38: Chr1:145605589-146057729	ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LINC01719, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, RNVU1-6, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TXNIP		See cases	Uncertain significance (Sep 23, 2013)	no assertion criteria provided
Select item 5987058.	GRCh38/hg38 1q21.1(chr1:145609216-146046645)x1 GRCh37: Chr1:145388355-145825847 GRCh38: Chr1:145609216-146046645	ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TXNIP		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5987259.	GRCh38/hg38 1q21.1(chr1:145625047-146021303)x1 GRCh37: Chr1:145413710-145810009 GRCh38: Chr1:145625047-146021303	ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 249962560.	GRCh38/hg38 1q21.1(chr1:145635432-146019857) GRCh38: Chr1:145635432-146019857	ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP		See cases	Uncertain significance (Aug 14, 2023)	criteria provided, single submitter
Select item 14466861.	GRCh38/hg38 1q21.1(chr1:145635432-146019857)x3 GRCh37: Chr1:145415156-145799615 GRCh38: Chr1:145635432-146019857	ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP		See cases	conflicting data from submitters (Sep 21, 2012)	no assertion criteria provided
Select item 5987162.	GRCh38/hg38 1q21.1(chr1:145635445-146046645)x1 GRCh37: Chr1:145388355-145799602 GRCh38: Chr1:145635445-146046645	ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TXNIP		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 15404163.	GRCh38/hg38 1q21.1(chr1:145642988-146047980)x1 GRCh37: Chr1:145387023-145792052 GRCh38: Chr1:145642988-146047980	ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TXNIP		See cases	Uncertain significance (Jul 18, 2014)	no assertion criteria provided
Select item 14668764.	GRCh38/hg38 1q21.1(chr1:145646117-146019823)x1 GRCh37: Chr1:145415190-145788922 GRCh38: Chr1:145646117-146019823	ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP		See cases	Likely pathogenic (Feb 25, 2011)	no assertion criteria provided
Select item 5986765.	GRCh38/hg38 1q21.1(chr1:145688094-146046645)x1 GRCh37: Chr1:145388355-145746971 GRCh38: Chr1:145688094-146046645	ANKRD34A, ANKRD35, CD160, HJV, ITGA10, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TXNIP		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 14602866.	GRCh38/hg38 1q21.1(chr1:145688153-146166380)x3 GRCh37: Chr1:145271815-145746912 GRCh38: Chr1:145688153-146166380	ANKRD34A, ANKRD35, CD160, HJV, ITGA10, LINC01719, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NBPF10, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, RNVU1-6, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TXNIP		See cases	Pathogenic (Nov 30, 2010)	no assertion criteria provided
Select item 14616367.	GRCh38/hg38 1q21.1(chr1:145691625-146082575)x3 GRCh37: Chr1:145311043-145743440 GRCh38: Chr1:145691625-146082575	ANKRD34A, ANKRD35, CD160, HJV, ITGA10, LINC01719, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, MIR6736, NBPF10, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, RNVU1-6, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TXNIP		See cases	Likely pathogenic (Nov 30, 2010)	no assertion criteria provided
Select item 257920868.	GRCh38/hg38 1q21.1(chr1:145822587-146064587)x1 GRCh38: Chr1:145822587-146064587	ANKRD34A, ANKRD35, HJV, ITGA10, LINC01719, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805850, LOC126805851, MIR6736, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, RNVU1-6, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TXNIP		Radial aplasia-thrombocytopenia syndrome	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 14480169.	GRCh38/hg38 1q21.1(chr1:146004406-146046645)x3 GRCh37: Chr1:145388355-145430633 GRCh38: Chr1:146004406-146046645	HJV, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1		See cases	Benign (Nov 30, 2010)	no assertion criteria provided
Select item 87502070.	NM_213653.4(HJV):c.*574A>T GRCh37: Chr1:145417510 GRCh38: Chr1:146017503	HJV		Hemochromatosis type 2A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87501971.	NM_213653.4(HJV):c.*372A>G GRCh37: Chr1:145417308 GRCh38: Chr1:146017705	HJV		Hemochromatosis type 2A	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 29243572.	NM_213653.4(HJV):c.*288A>C GRCh37: Chr1:145417224 GRCh38: Chr1:146017789	HJV		Hemochromatosis type 2A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87501873.	NM_213653.4(HJV):c.*198G>A GRCh37: Chr1:145417134 GRCh38: Chr1:146017879	HJV		Hemochromatosis type 2A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87501774.	NM_213653.4(HJV):c.*197G>A GRCh37: Chr1:145417133 GRCh38: Chr1:146017880	HJV		Hemochromatosis type 2A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87501675.	NM_213653.4(HJV):c.*190G>A GRCh37: Chr1:145417126 GRCh38: Chr1:146017887	HJV		Hemochromatosis type 2A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 107881676.	NM_213653.4(HJV):c.1275T>C (p.Ile425=) GRCh37: Chr1:145416930 GRCh38: Chr1:146018083	HJV		not provided	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 190725477.	NM_213653.4(HJV):c.1266G>A (p.Trp422Ter) GRCh37: Chr1:145416921 GRCh38: Chr1:146018092	HJV	W309, W422, W196*	not provided	Uncertain significance (Jul 13, 2020)	criteria provided, single submitter
Select item 21684678.	NM_213653.4(HJV):c.1264T>C (p.Trp422Arg) GRCh37: Chr1:145416919 GRCh38: Chr1:146018094	HJV	W422R, W196R, W309R	not provided	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 29243479.	NM_213653.4(HJV):c.1257T>G (p.Phe419Leu) GRCh37: Chr1:145416912 GRCh38: Chr1:146018101	HJV	F419L, F306L, F193L	not provided, Hemochromatosis type 2A	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29243380.	NM_213653.4(HJV):c.1254C>G (p.Leu418=) GRCh37: Chr1:145416909 GRCh38: Chr1:146018104	HJV		Hemochromatosis type 2A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 119928481.	NM_213653.4(HJV):c.1238C>T (p.Pro413Leu) GRCh37: Chr1:145416893 GRCh38: Chr1:146018120	HJV	P187L, P300L, P413L	Hemochromatosis type 2A	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 113901082.	NM_213653.4(HJV):c.1227C>A (p.Thr409=) GRCh37: Chr1:145416882 GRCh38: Chr1:146018131	HJV		not provided	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 108475283.	NM_213653.4(HJV):c.1227C>T (p.Thr409=) GRCh37: Chr1:145416882 GRCh38: Chr1:146018131	HJV		not provided	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 156784284.	NM_213653.4(HJV):c.1206G>A (p.Gly402=) GRCh37: Chr1:145416861 GRCh38: Chr1:146018152	HJV		not provided	Likely benign (Jun 22, 2021)	criteria provided, single submitter
Select item 109209885.	NM_213653.4(HJV):c.1206G>T (p.Gly402=) GRCh37: Chr1:145416861 GRCh38: Chr1:146018152	HJV		not provided	Likely benign (Sep 22, 2019)	criteria provided, single submitter
Select item 75267886.	NM_213653.4(HJV):c.1194C>G (p.Pro398=) GRCh37: Chr1:145416849 GRCh38: Chr1:146018164	HJV		not provided	Likely benign (Aug 1, 2021)	criteria provided, single submitter
Select item 116001187.	NM_213653.4(HJV):c.1191C>T (p.Phe397=) GRCh37: Chr1:145416846 GRCh38: Chr1:146018167	HJV		not provided	Likely benign (Aug 14, 2020)	criteria provided, single submitter
Select item 108857688.	NM_213653.4(HJV):c.1188C>G (p.Leu396=) GRCh37: Chr1:145416843 GRCh38: Chr1:146018170	HJV		not provided	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 154586789.	NM_213653.4(HJV):c.1182G>A (p.Leu394=) GRCh37: Chr1:145416837 GRCh38: Chr1:146018176	HJV		not provided	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 253954990.	NM_213653.4(HJV):c.1178A>G (p.Lys393Arg) GRCh37: Chr1:145416833 GRCh38: Chr1:146018180	HJV	K167R, K393R, K280R	Inborn genetic diseases	Uncertain significance (Apr 20, 2023)	criteria provided, single submitter
Select item 111532191.	NM_213653.4(HJV):c.1176G>A (p.Glu392=) GRCh37: Chr1:145416831 GRCh38: Chr1:146018182	HJV		not provided	Likely benign (Sep 10, 2020)	criteria provided, single submitter
Select item 75243392.	NM_213653.4(HJV):c.1164G>A (p.Leu388=) GRCh37: Chr1:145416819 GRCh38: Chr1:146018194	HJV		not provided	Likely benign (Sep 12, 2018)	criteria provided, single submitter
Select item 153570293.	NM_213653.4(HJV):c.1162C>T (p.Leu388=) GRCh37: Chr1:145416817 GRCh38: Chr1:146018196	HJV		not provided	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 162122894.	NM_213653.4(HJV):c.1153C>A (p.Arg385=) GRCh37: Chr1:145416808 GRCh38: Chr1:146018205	HJV		not provided	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 106633395.	NM_213653.4(HJV):c.1153C>T (p.Arg385Ter) GRCh37: Chr1:145416808 GRCh38: Chr1:146018205	HJV	R159, R272, R385*	not provided	Likely pathogenic (Feb 23, 2022)	criteria provided, single submitter
Select item 157562196.	NM_213653.4(HJV):c.1152C>T (p.Ala384=) GRCh37: Chr1:145416807 GRCh38: Chr1:146018206	HJV		not provided	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 202987897.	NM_213653.4(HJV):c.1149T>C (p.Asp383=) GRCh37: Chr1:145416804 GRCh38: Chr1:146018209	HJV		not provided	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 102089298.	NM_213653.4(HJV):c.1141C>A (p.Leu381Met) GRCh37: Chr1:145416796 GRCh38: Chr1:146018217	HJV	L155M, L268M, L381M	not provided	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 108515799.	NM_213653.4(HJV):c.1134G>A (p.Gln378=) GRCh37: Chr1:145416789 GRCh38: Chr1:146018224	HJV		not provided	Likely benign (Jan 23, 2019)	criteria provided, single submitter
Select item 1586108100.	NM_213653.4(HJV):c.1122C>T (p.Thr374=) GRCh37: Chr1:145416777 GRCh38: Chr1:146018236	HJV		not provided	Likely benign (Dec 29, 2021)	criteria provided, single submitter

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