5236[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 580791.	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 GRCh37: Chr1:53061024-77233450 GRCh38: Chr1:52595352-76767765	ACADM, ACOT11, AK4, ALG6, ANGPTL3, ANKRD13C, ASB17, ATG4C, BSND, C1orf141, C1orf87, C8A, C8B, CACHD1, CDCP2, COA7, CPT2, CRYZ, CTH, CYB5RL, CYP2J2, CZIB, DAB1, DAB1-AS1, DEPDC1, DEPDC1-AS1, DHCR24, DIO1, DIRAS3, DLEU2L, DMRTB1, DNAI4, DNAJC6, DOCK7, DYNLT5, ECHDC2, EFCAB7, ERICH3, ERICH3-AS1, FAM151A, FGGY, FOXD3, FOXD3-AS1, FPGT, FPGT-TNNI3K, FYB2, GADD45A, GLIS1, GNG12, GNG12-AS1, GPX7, HHLA3, HHLA3-AS1, HOOK1, HSD52, IFT25, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, JUN, KANK4, L1TD1, LDLRAD1, LEPR, LEPROT, LEXM, LHX8, LINC00466, LINC01135, LINC01358, LINC01359, LINC01360, LINC01707, LINC01739, LINC01748, LINC01753, LINC01755, LINC01758, LINC01767, LINC01788, LINC02238, LINC02567, LINC02777, LINC02784, LINC02791, LINC02796, LOC100507634, LOC101926944, LOC101926964, LOC101927342, LOC101929935, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC110121126, LOC110121161, LOC111501769, LOC112590804, LOC112590805, LOC112590806, LOC112590807, LOC112590808, LOC112590809, LOC112590810, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC112590820, LOC114827846, LOC115801429, LOC115801430, LOC120893134, LOC120893135, LOC120893136, LOC120893137, LOC120893138, LOC120893139, LOC120893140, LOC120893141, LOC121725023, LOC121725024, LOC121725025, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC121725032, LOC121725033, LOC122056873, LOC122056874, LOC122056875, LOC122056876, LOC122056877, LOC122056878, LOC122056879, LOC122056880, LOC122056881, LOC122056882, LOC122056883, LOC122056884, LOC122056887, LOC122056888, LOC122056889, LOC122056890, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC122094853, LOC126805734, LOC126805735, LOC126805736, LOC126805737, LOC126805738, LOC126805739, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC126805757, LOC126805758, LOC126805759, LOC126805760, LOC126805761, LOC126805762, LOC128772198, LRP8, LRP8-DT, LRRC40, LRRC42, LRRC53, LRRC7, LRRC7-AS1, LRRIQ3, MAGOH, MAGOH-DT, MIER1, MIR101-1, MIR12132, MIR1262, MIR1273F, MIR1273G, MIR186, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4422, MIR4422HG, MIR4711, MIR4781, MIR4794, MIR5095, MIR6068, MROH7, MROH7-TTC4, MRPL37, MSH4, MYSM1, NDC1, NEGR1, NEGR1-IT1, NFIA, NFIA-AS1, NFIA-AS2, OMA1, PARS2, PATJ, PCSK9, PDE4B, PDE4B-AS1, PGM1, PLPP3, PODN, PRKAA2, PTGER3, RABGGTB, RAVER2, ROR1, ROR1-AS1, RPE65, SCP2, SERBP1, SGIP1, SHISAL2A, SLC1A7, SLC35D1, SLC44A5, SNORD45A, SNORD45B, SNORD45C, SRSF11, SSBP3, SSBP3-AS1, ST6GALNAC3, TACSTD2, TCEANC2, TM2D1, TMEM59, TMEM61, TNNI3K, TRK-CTT7-1, TTC22, TTC4, TYW3, UBE2U, USP1, USP24, WLS, YIPF1, ZRANB2, ZRANB2-AS1, ZRANB2-DT, ZYG11A, ZYG11B		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1533252.	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3 GRCh37: Chr1:53253175-67805556 GRCh38: Chr1:52787503-67339873	LRP8-DT, LRRC42, MAGOH, MAGOH-DT, MIER1, MIR101-1, MIR12132, MIR1273F, MIR1273G, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4422, MIR4422HG, MIR4711, MIR4781, MIR4794, MIR5095, MIR6068, MROH7, MROH7-TTC4, MRPL37, MYSM1, NDC1, NFIA, NFIA-AS1, NFIA-AS2, OMA1, PARS2, PATJ, PCSK9, PDE4B, PDE4B-AS1, PGM1, PLPP3, PODN, PRKAA2, RAVER2, ROR1, ROR1-AS1, SCP2, SGIP1, SLC1A7, SLC35D1, SSBP3, SSBP3-AS1, TACSTD2, TCEANC2, TM2D1, TMEM59, TMEM61, TRK-CTT7-1, TTC22, TTC4, UBE2U, USP1, USP24, YIPF1, ZYG11A, ZYG11B, ACOT11, AK4, ALG6, ANGPTL3, ATG4C, BSND, C1orf141, C1orf87, C8A, C8B, CACHD1, CDCP2, CPT2, CYB5RL, CYP2J2, CZIB, DAB1, DAB1-AS1, DHCR24, DIO1, DLEU2L, DMRTB1, DNAI4, DNAJC6, DOCK7, DYNLT5, ECHDC2, EFCAB7, FAM151A, FGGY, FOXD3, FOXD3-AS1, FYB2, GLIS1, HOOK1, HSD52, IFT25, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, JUN, KANK4, L1TD1, LDLRAD1, LEPR, LEPROT, LEXM, LINC00466, LINC01135, LINC01358, LINC01359, LINC01739, LINC01748, LINC01753, LINC01755, LINC01767, LINC02777, LINC02784, LOC100507634, LOC101926944, LOC101926964, LOC101929935, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC110121126, LOC110121161, LOC111501769, LOC112590805, LOC112590806, LOC112590807, LOC112590808, LOC112590809, LOC112590810, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC114827846, LOC120893134, LOC120893135, LOC120893136, LOC120893137, LOC120893138, LOC120893139, LOC120893140, LOC121725023, LOC121725024, LOC121725025, LOC121725026, LOC121725027, LOC121725028, LOC122056875, LOC122056876, LOC122056877, LOC122056878, LOC122056879, LOC122056880, LOC122056881, LOC122056882, LOC122056883, LOC122056884, LOC122056887, LOC122056888, LOC122056889, LOC122056890, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC126805734, LOC126805735, LOC126805736, LOC126805737, LOC126805738, LOC126805739, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC128772198, LRP8		See cases	Likely pathogenic (May 7, 2013)	no assertion criteria provided
Select item 1506473.	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1 GRCh37: Chr1:54092945-64714537 GRCh38: Chr1:53627272-64248854	ROR1, ROR1-AS1, SSBP3, SSBP3-AS1, TACSTD2, TCEANC2, TM2D1, TMEM59, TMEM61, TRK-CTT7-1, TTC22, TTC4, UBE2U, USP1, USP24, YIPF1, ACOT11, ALG6, ANGPTL3, ATG4C, BSND, C1orf87, C8A, C8B, CDCP2, CYB5RL, CYP2J2, DAB1, DAB1-AS1, DHCR24, DIO1, DLEU2L, DOCK7, EFCAB7, FAM151A, FGGY, FOXD3, FOXD3-AS1, FYB2, GLIS1, HOOK1, HSD52, IFT25, ITGB3BP, JUN, KANK4, L1TD1, LDLRAD1, LEXM, LINC00466, LINC01135, LINC01358, LINC01739, LINC01748, LINC01753, LINC01755, LINC01767, LINC02777, LINC02784, LOC100507634, LOC101926944, LOC101926964, LOC101929935, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC110121126, LOC110121161, LOC111501769, LOC112590806, LOC112590807, LOC112590808, LOC112590809, LOC112590810, LOC112590812, LOC112590814, LOC112590815, LOC120893136, LOC120893137, LOC120893138, LOC120893139, LOC120893140, LOC121725023, LOC121725024, LOC121725025, LOC121725026, LOC121725027, LOC121725028, LOC122056878, LOC122056879, LOC122056880, LOC122056881, LOC122056882, LOC122056883, LOC122056884, LOC122056887, LOC122056888, LOC122056889, LOC122056890, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC126805734, LOC126805735, LOC126805736, LOC126805737, LOC126805738, LOC126805739, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC128772198, LRRC42, MIR12132, MIR3116-1, MIR3116-2, MIR4422, MIR4422HG, MIR4711, MIR4781, MIR6068, MROH7, MROH7-TTC4, MRPL37, MYSM1, NDC1, NFIA, NFIA-AS1, NFIA-AS2, OMA1, PARS2, PATJ, PCSK9, PGM1, PLPP3, PRKAA2		See cases	Pathogenic (Jul 5, 2011)	no assertion criteria provided
Select item 599704.	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1 GRCh37: Chr1:57816246-71791607 GRCh38: Chr1:57350574-71325924	AK4, ALG6, ANGPTL3, ANKRD13C, ATG4C, C1orf141, C1orf87, CACHD1, CTH, CYP2J2, DAB1, DAB1-AS1, DEPDC1, DEPDC1-AS1, DIRAS3, DLEU2L, DNAI4, DNAJC6, DOCK7, DYNLT5, EFCAB7, FGGY, FOXD3, FOXD3-AS1, GADD45A, GNG12, GNG12-AS1, HHLA3, HHLA3-AS1, HOOK1, HSD52, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, JUN, KANK4, L1TD1, LEPR, LEPROT, LINC00466, LINC01135, LINC01358, LINC01359, LINC01707, LINC01739, LINC01748, LINC01758, LINC01788, LINC02777, LINC02791, LOC101926944, LOC101926964, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC111501769, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC115801429, LOC115801430, LOC120893139, LOC120893140, LOC120893141, LOC121725025, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC122056887, LOC122056888, LOC122056889, LOC122056890, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC126805737, LOC126805738, LOC126805739, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC128772198, LRRC40, LRRC7, LRRC7-AS1, MIER1, MIR101-1, MIR12132, MIR1262, MIR186, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4711, MIR4794, MIR6068, MYSM1, NFIA, NFIA-AS1, NFIA-AS2, OMA1, PATJ, PDE4B, PDE4B-AS1, PGM1, PTGER3, RAVER2, ROR1, ROR1-AS1, RPE65, SERBP1, SGIP1, SLC35D1, SRSF11, TACSTD2, TM2D1, UBE2U, USP1, WLS, ZRANB2, ZRANB2-AS1, ZRANB2-DT		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1477655.	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1 GRCh37: Chr1:59285277-86564294 GRCh38: Chr1:58819605-86098611	ACADM, ADGRL2, ADGRL4, AK4, AK5, ALG6, ANGPTL3, ANKRD13C, ASB17, ATG4C, BCL10, BCL10-AS1, C1orf141, C1orf52, C1orf87, CACHD1, CCN1, COL24A1, CRYZ, CTBS, CTH, CYP2J2, DDAH1, DEPDC1, DEPDC1-AS1, DIRAS3, DLEU2L, DNAI3, DNAI4, DNAJB4, DNAJC6, DNASE2B, DOCK7, DYNLT5, EFCAB7, ERICH3, ERICH3-AS1, FGGY, FOXD3, FOXD3-AS1, FPGT, FPGT-TNNI3K, FUBP1, GADD45A, GIPC2, GNG12, GNG12-AS1, GNG5, HHLA3, HHLA3-AS1, HOOK1, HSD52, IFI44, IFI44L, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, KANK4, L1TD1, LEPR, LEPROT, LHX8, LINC00466, LINC01135, LINC01358, LINC01359, LINC01360, LINC01361, LINC01362, LINC01461, LINC01555, LINC01707, LINC01712, LINC01725, LINC01739, LINC01748, LINC01758, LINC01781, LINC01788, LINC02238, LINC02567, LINC02777, LINC02791, LINC02796, LOC101926944, LOC101926964, LOC101927342, LOC101927434, LOC101927560, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120683, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC110121238, LOC111501769, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC112590820, LOC115801429, LOC115801430, LOC120893140, LOC120893141, LOC120893142, LOC120893143, LOC120893144, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC121725032, LOC121725033, LOC121725034, LOC121725035, LOC121725036, LOC121725037, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC122094852, LOC122094853, LOC122094854, LOC122094855, LOC122094856, LOC122094857, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC126805757, LOC126805758, LOC126805759, LOC126805760, LOC126805761, LOC126805762, LOC126805763, LOC126805764, LOC126805765, LOC126805766, LOC126805767, LOC126805768, LOC126805769, LOC126805770, LOC126805771, LOC126805772, LOC126805773, LOC126805774, LOC128772198, LPAR3, LRRC40, LRRC53, LRRC7, LRRC7-AS1, LRRIQ3, MCOLN2, MCOLN3, MGC27382, MIER1, MIGA1, MIR101-1, MIR12132, MIR1262, MIR186, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4423, MIR4711, MIR4794, MIR6068, MIR7156, MSH4, NEGR1, NEGR1-IT1, NEXN, NEXN-AS1, NFIA, NFIA-AS1, NFIA-AS2, PATJ, PDE4B, PDE4B-AS1, PGM1, PIGK, PRKACB, PTGER3, PTGFR, RABGGTB, RAVER2, ROR1, ROR1-AS1, RPE65, RPF1, SAMD13, SERBP1, SGIP1, SLC35D1, SLC44A5, SNORD45A, SNORD45B, SNORD45C, SPATA1, SRSF11, SSX2IP, ST6GALNAC3, ST6GALNAC5, SYDE2, TM2D1, TNNI3K, TTLL7, TTLL7-IT1, TYW3, UBE2U, USP1, USP33, WLS, ZNHIT6, ZRANB2, ZRANB2-AS1, ZRANB2-DT, ZZZ3		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 1447146.	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1 GRCh37: Chr1:59285277-69572791 GRCh38: Chr1:58819605-69107108	AK4, ALG6, ANGPTL3, ATG4C, C1orf141, C1orf87, CACHD1, CYP2J2, DEPDC1, DEPDC1-AS1, DIRAS3, DLEU2L, DNAI4, DNAJC6, DOCK7, DYNLT5, EFCAB7, FGGY, FOXD3, FOXD3-AS1, GADD45A, GNG12, GNG12-AS1, HOOK1, HSD52, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, KANK4, L1TD1, LEPR, LEPROT, LINC00466, LINC01135, LINC01358, LINC01359, LINC01707, LINC01739, LINC01748, LINC02777, LOC101926944, LOC101926964, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC111501769, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC115801429, LOC120893140, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC128772198, MIER1, MIR101-1, MIR12132, MIR1262, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4711, MIR4794, MIR6068, NFIA, NFIA-AS1, NFIA-AS2, PATJ, PDE4B, PDE4B-AS1, PGM1, RAVER2, ROR1, ROR1-AS1, RPE65, SERBP1, SGIP1, SLC35D1, TM2D1, UBE2U, USP1, WLS		See cases	Pathogenic (Aug 18, 2010)	no assertion criteria provided
Select item 599717.	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1 GRCh37: Chr1:60098172-77196562 GRCh38: Chr1:59632500-76730877	ACADM, AK4, ALG6, ANGPTL3, ANKRD13C, ASB17, ATG4C, C1orf141, C1orf87, CACHD1, CRYZ, CTH, CYP2J2, DEPDC1, DEPDC1-AS1, DIRAS3, DLEU2L, DNAI4, DNAJC6, DOCK7, DYNLT5, EFCAB7, ERICH3, ERICH3-AS1, FGGY, FOXD3, FOXD3-AS1, FPGT, FPGT-TNNI3K, GADD45A, GNG12, GNG12-AS1, HHLA3, HHLA3-AS1, HOOK1, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, KANK4, L1TD1, LEPR, LEPROT, LHX8, LINC00466, LINC01359, LINC01360, LINC01707, LINC01739, LINC01748, LINC01758, LINC01788, LINC02238, LINC02791, LINC02796, LOC101926944, LOC101926964, LOC101927342, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC111501769, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC112590820, LOC115801429, LOC115801430, LOC120893141, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC121725032, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC122094853, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC126805757, LOC126805758, LOC126805759, LOC126805760, LOC126805761, LOC126805762, LOC128772198, LRRC40, LRRC53, LRRC7, LRRC7-AS1, LRRIQ3, MIER1, MIR101-1, MIR12132, MIR1262, MIR186, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4711, MIR4794, MIR6068, MSH4, NEGR1, NEGR1-IT1, NFIA, NFIA-AS1, NFIA-AS2, PATJ, PDE4B, PDE4B-AS1, PGM1, PTGER3, RABGGTB, RAVER2, ROR1, ROR1-AS1, RPE65, SERBP1, SGIP1, SLC35D1, SLC44A5, SNORD45A, SNORD45B, SNORD45C, SRSF11, ST6GALNAC3, TM2D1, TNNI3K, TYW3, UBE2U, USP1, WLS, ZRANB2, ZRANB2-AS1, ZRANB2-DT		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1442288.	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1 GRCh37: Chr1:60226528-72043735 GRCh38: Chr1:59760856-71578052	LOC112590817, LOC112590818, LOC112590819, LOC115801429, LOC115801430, LOC120893141, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC128772198, LRRC40, LRRC7, LRRC7-AS1, MIER1, MIR101-1, MIR12132, MIR1262, MIR186, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4794, MIR6068, NEGR1, NFIA, NFIA-AS1, NFIA-AS2, PATJ, PDE4B, PDE4B-AS1, PGM1, PTGER3, RAVER2, ROR1, ROR1-AS1, RPE65, SERBP1, SGIP1, SLC35D1, SRSF11, TM2D1, UBE2U, USP1, WLS, ZRANB2, ZRANB2-AS1, ZRANB2-DT, AK4, ALG6, ANGPTL3, ANKRD13C, ATG4C, C1orf141, C1orf87, CACHD1, CTH, CYP2J2, DEPDC1, DEPDC1-AS1, DIRAS3, DLEU2L, DNAI4, DNAJC6, DOCK7, DYNLT5, EFCAB7, FGGY, FOXD3, FOXD3-AS1, GADD45A, GNG12, GNG12-AS1, HHLA3, HHLA3-AS1, HOOK1, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, KANK4, L1TD1, LEPR, LEPROT, LINC00466, LINC01359, LINC01707, LINC01739, LINC01748, LINC01758, LINC01788, LINC02791, LOC101926944, LOC101926964, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC111501769, LOC112590815, LOC112590816		See cases	Pathogenic (Apr 23, 2013)	no assertion criteria provided
Select item 570909.	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1 GRCh37: Chr1:60939472-71410638 GRCh38: Chr1:60473800-70944955	AK4, ALG6, ANGPTL3, ANKRD13C, ATG4C, C1orf141, CACHD1, CTH, DEPDC1, DEPDC1-AS1, DIRAS3, DLEU2L, DNAI4, DNAJC6, DOCK7, DYNLT5, EFCAB7, FOXD3, FOXD3-AS1, GADD45A, GNG12, GNG12-AS1, HHLA3, HHLA3-AS1, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, KANK4, L1TD1, LEPR, LEPROT, LINC00466, LINC01359, LINC01707, LINC01739, LINC01748, LINC01758, LINC01788, LINC02791, LOC101926964, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC111501769, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC115801429, LOC115801430, LOC120893141, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC128772198, LRRC40, LRRC7, LRRC7-AS1, MIER1, MIR101-1, MIR12132, MIR1262, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4794, MIR6068, NFIA, NFIA-AS1, NFIA-AS2, PATJ, PDE4B, PDE4B-AS1, PGM1, PTGER3, RAVER2, ROR1, ROR1-AS1, RPE65, SERBP1, SGIP1, SLC35D1, SRSF11, TM2D1, UBE2U, USP1, WLS		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5808110.	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3 GRCh37: Chr1:62388322-66911440 GRCh38: Chr1:61922650-66445757	EFCAB7, FOXD3, FOXD3-AS1, ITGB3BP, JAK1, KANK4, L1TD1, LEPR, LEPROT, LINC00466, LINC01359, LINC01739, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC121725026, LOC121725027, LOC121725028, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC128772198, MIR101-1, MIR3116-1, MIR3116-2, MIR3671, MIR4794, MIR6068, PATJ, PDE4B, PDE4B-AS1, PGM1, RAVER2, ROR1, ROR1-AS1, UBE2U, USP1, AK4, ALG6, ANGPTL3, ATG4C, CACHD1, DLEU2L, DNAJC6, DOCK7		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 249818411.	NC_000001.11:g.63395673_63749318del GRCh38: Chr1:63395673-63749318	FOXD3, ALG6, DLEU2L, EFCAB7, ITGB3BP, LOC121725027, PGM1		Craniosynostosis syndrome	Uncertain significance (Mar 23, 2023)	criteria provided, single submitter
Select item 51043612.	NM_002633.3(PGM1):c.-49C>G GRCh37: Chr1:64059111 GRCh38: Chr1:63593440	PGM1		not specified	Likely benign (Feb 6, 2018)	criteria provided, single submitter
Select item 66847213.	NM_002633.3(PGM1):c.-41G>A GRCh37: Chr1:64059119 GRCh38: Chr1:63593448	PGM1		not provided	Likely benign (May 18, 2018)	criteria provided, single submitter
Select item 87460214.	NM_002633.3(PGM1):c.-39C>G GRCh37: Chr1:64059121 GRCh38: Chr1:63593450	PGM1		PGM1-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 193281215.	NM_002633.3(PGM1):c.5T>G (p.Val2Gly) GRCh37: Chr1:64059164 GRCh38: Chr1:63593493	PGM1	V2G	PGM1-congenital disorder of glycosylation	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 70406616.	NM_002633.3(PGM1):c.12C>A (p.Ile4=) GRCh37: Chr1:64059171 GRCh38: Chr1:63593500	PGM1		not provided	Likely benign (May 25, 2018)	criteria provided, single submitter
Select item 38457117.	NM_002633.3(PGM1):c.18A>G (p.Thr6=) GRCh37: Chr1:64059177 GRCh38: Chr1:63593506	PGM1		PGM1-congenital disorder of glycosylation, not provided	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 223659318.	NM_002633.3(PGM1):c.23A>G (p.Lys8Arg) GRCh37: Chr1:64059182 GRCh38: Chr1:63593511	PGM1	K8R	Inborn genetic diseases	Uncertain significance (Jul 13, 2021)	criteria provided, single submitter
Select item 169451619.	NM_002633.3(PGM1):c.28_37del (p.Gln10fs) GRCh37: Chr1:64059184-64059193 GRCh38: Chr1:63593513-63593522	PGM1	Q10fs	not provided	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 208277520.	NM_002633.3(PGM1):c.38A>C (p.Gln13Pro) GRCh37: Chr1:64059197 GRCh38: Chr1:63593526	PGM1	Q13P	PGM1-congenital disorder of glycosylation	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 203592521.	NM_002633.3(PGM1):c.42C>T (p.Asp14=) GRCh37: Chr1:64059201 GRCh38: Chr1:63593530	PGM1		PGM1-congenital disorder of glycosylation	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 197273022.	NM_002633.3(PGM1):c.48G>A (p.Lys16=) GRCh37: Chr1:64059207 GRCh38: Chr1:63593536	PGM1		PGM1-congenital disorder of glycosylation	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 247605723.	NM_002633.3(PGM1):c.56C>G (p.Thr19Arg) GRCh37: Chr1:64059215 GRCh38: Chr1:63593544	PGM1	T19R	Inborn genetic diseases	Uncertain significance (Jan 17, 2023)	criteria provided, single submitter
Select item 73908624.	NM_002633.3(PGM1):c.57G>A (p.Thr19=) GRCh37: Chr1:64059216 GRCh38: Chr1:63593545	PGM1		PGM1-congenital disorder of glycosylation	Likely benign (Nov 26, 2021)	criteria provided, single submitter
Select item 216304325.	NM_002633.3(PGM1):c.60C>T (p.Ser20=) GRCh37: Chr1:64059219 GRCh38: Chr1:63593548	PGM1		PGM1-congenital disorder of glycosylation	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 51163326.	NM_002633.3(PGM1):c.64C>T (p.Leu22=) GRCh37: Chr1:64059223 GRCh38: Chr1:63593552	PGM1		not specified, not provided	Likely benign (Dec 24, 2018)	criteria provided, multiple submitters, no conflicts
Select item 80615027.	NM_002633.3(PGM1):c.74G>A (p.Arg25Gln) GRCh37: Chr1:64059233 GRCh38: Chr1:63593562	PGM1	R25Q	not provided	Uncertain significance (Mar 1, 2019)	criteria provided, single submitter
Select item 141637428.	NM_002633.3(PGM1):c.76G>A (p.Val26Met) GRCh37: Chr1:64059235 GRCh38: Chr1:63593564	PGM1	V26M	PGM1-congenital disorder of glycosylation	Uncertain significance (Dec 9, 2021)	criteria provided, single submitter
Select item 66310529.	NM_002633.3(PGM1):c.87_88del (p.Phe29fs) GRCh37: Chr1:64059246-64059247 GRCh38: Chr1:63593575-63593576	PGM1	F29fs	PGM1-congenital disorder of glycosylation	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 143347030.	NM_002633.3(PGM1):c.91A>G (p.Ser31Gly) GRCh37: Chr1:64059250 GRCh38: Chr1:63593579	PGM1	S31G	PGM1-congenital disorder of glycosylation	Uncertain significance (Oct 18, 2021)	criteria provided, single submitter
Select item 191164131.	NM_002633.3(PGM1):c.97G>C (p.Ala33Pro) GRCh37: Chr1:64059256 GRCh38: Chr1:63593585	PGM1	A33P	PGM1-congenital disorder of glycosylation	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 38298032.	NM_002633.3(PGM1):c.99C>T (p.Ala33=) GRCh37: Chr1:64059258 GRCh38: Chr1:63593587	PGM1		not provided, PGM1-congenital disorder of glycosylation	Likely benign (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 210802633.	NM_002633.3(PGM1):c.105C>T (p.Tyr35=) GRCh37: Chr1:64059264 GRCh38: Chr1:63593593	PGM1		PGM1-congenital disorder of glycosylation	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 63161234.	NM_002633.3(PGM1):c.105C>A (p.Tyr35Ter) GRCh37: Chr1:64059264 GRCh38: Chr1:63593593	PGM1	Y35*	PGM1-Related Disorders	Uncertain significance (Oct 23, 2018)	criteria provided, single submitter
Select item 194860835.	NM_002633.3(PGM1):c.107C>T (p.Ala36Val) GRCh37: Chr1:64059266 GRCh38: Chr1:63593595	PGM1	A36V	PGM1-congenital disorder of glycosylation	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 87460336.	NM_002633.3(PGM1):c.107C>A (p.Ala36Glu) GRCh37: Chr1:64059266 GRCh38: Chr1:63593595	PGM1	A36E	PGM1-congenital disorder of glycosylation, not provided	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13328737.	NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr) GRCh37: Chr1:64059271 GRCh38: Chr1:63593600	PGM1	N38Y	PGM1-congenital disorder of glycosylation	Pathogenic (Apr 26, 2022)	criteria provided, single submitter
Select item 215187738.	NM_002633.3(PGM1):c.119del (p.Ile40fs) GRCh37: Chr1:64059278 GRCh38: Chr1:63593607	PGM1	I40fs	PGM1-congenital disorder of glycosylation	Pathogenic (Oct 26, 2022)	criteria provided, single submitter
Select item 206914039.	NM_002633.3(PGM1):c.119T>C (p.Ile40Thr) GRCh37: Chr1:64059278 GRCh38: Chr1:63593607	PGM1	I40T	PGM1-congenital disorder of glycosylation	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 218021140.	NM_002633.3(PGM1):c.120C>G (p.Ile40Met) GRCh37: Chr1:64059279 GRCh38: Chr1:63593608	PGM1	I40M	PGM1-congenital disorder of glycosylation	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 50105341.	NM_002633.3(PGM1):c.122A>G (p.Gln41Arg) GRCh37: Chr1:64059281 GRCh38: Chr1:63593610	PGM1	Q41R	not provided	Uncertain significance (Mar 24, 2017)	criteria provided, single submitter
Select item 142344842.	NM_002633.3(PGM1):c.125G>A (p.Ser42Asn) GRCh37: Chr1:64059284 GRCh38: Chr1:63593613	PGM1	S42N	not provided, PGM1-congenital disorder of glycosylation	Uncertain significance (Sep 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 199183143.	NM_002633.3(PGM1):c.129C>T (p.Ile43=) GRCh37: Chr1:64059288 GRCh38: Chr1:63593617	PGM1		PGM1-congenital disorder of glycosylation	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 217132544.	NM_002633.3(PGM1):c.134C>T (p.Ser45Phe) GRCh37: Chr1:64059293 GRCh38: Chr1:63593622	PGM1	S45F	PGM1-congenital disorder of glycosylation	Uncertain significance (Jan 25, 2022)	criteria provided, single submitter
Select item 93739545.	NM_002633.3(PGM1):c.138C>A (p.Thr46=) GRCh37: Chr1:64059297 GRCh38: Chr1:63593626	PGM1		PGM1-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 201010446.	NM_002633.3(PGM1):c.152A>G (p.Gln51Arg) GRCh37: Chr1:64059311 GRCh38: Chr1:63593640	PGM1	Q51R	PGM1-congenital disorder of glycosylation	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 136613247.	NM_002633.3(PGM1):c.155G>A (p.Arg52Gln) GRCh37: Chr1:64059314 GRCh38: Chr1:63593643	PGM1	R52Q	PGM1-congenital disorder of glycosylation	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 96508548.	NM_002633.3(PGM1):c.157_158delinsG (p.Gln53fs) GRCh37: Chr1:64059316-64059317 GRCh38: Chr1:63593645-63593646	PGM1	Q53fs	not provided, PGM1-congenital disorder of glycosylation	Pathogenic (Nov 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 238974049.	NM_002633.3(PGM1):c.158A>G (p.Gln53Arg) GRCh37: Chr1:64059317 GRCh38: Chr1:63593646	PGM1	Q53R	Inborn genetic diseases	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 74591150.	NM_002633.3(PGM1):c.159G>A (p.Gln53=) GRCh37: Chr1:64059318 GRCh38: Chr1:63593647	PGM1		PGM1-congenital disorder of glycosylation	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 87460451.	NM_002633.3(PGM1):c.160G>A (p.Glu54Lys) GRCh37: Chr1:64059319 GRCh38: Chr1:63593648	PGM1	E54K	PGM1-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 205417252.	NM_002633.3(PGM1):c.168G>C (p.Thr56=) GRCh37: Chr1:64059327 GRCh38: Chr1:63593656	PGM1		PGM1-congenital disorder of glycosylation	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 180474053.	NM_002633.3(PGM1):c.170T>C (p.Leu57Pro) GRCh37: Chr1:64059329 GRCh38: Chr1:63593658	PGM1	L57P	not specified	Uncertain significance (Nov 21, 2022)	criteria provided, single submitter
Select item 195156754.	NM_002633.3(PGM1):c.171G>A (p.Leu57=) GRCh37: Chr1:64059330 GRCh38: Chr1:63593659	PGM1		PGM1-congenital disorder of glycosylation	Likely benign (Jan 22, 2022)	criteria provided, single submitter
Select item 95017955.	NM_002633.3(PGM1):c.178G>C (p.Gly60Arg) GRCh37: Chr1:64059337 GRCh38: Chr1:63593666	PGM1	G60R	PGM1-congenital disorder of glycosylation	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 13328856.	NM_002633.3(PGM1):c.184G>C (p.Asp62His) GRCh37: Chr1:64059343 GRCh38: Chr1:63593672	PGM1	D62H	not provided, PGM1-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 101602657.	NM_002633.3(PGM1):c.187G>T (p.Gly63Cys) GRCh37: Chr1:64059346 GRCh38: Chr1:63593675	PGM1	G63C	PGM1-congenital disorder of glycosylation	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 228719458.	NM_002633.3(PGM1):c.191G>A (p.Arg64Gln) GRCh37: Chr1:64059350 GRCh38: Chr1:63593679	PGM1	R64Q	Inborn genetic diseases	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 138517059.	NM_002633.3(PGM1):c.199A>G (p.Met67Val) GRCh37: Chr1:64059358 GRCh38: Chr1:63593687	PGM1	M67V	PGM1-congenital disorder of glycosylation	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 49957560.	NM_002633.3(PGM1):c.200T>G (p.Met67Arg) GRCh37: Chr1:64059359 GRCh38: Chr1:63593688	PGM1	M67R	not provided	Uncertain significance (Jan 12, 2017)	criteria provided, single submitter
Select item 193581461.	NM_002633.3(PGM1):c.203A>T (p.Lys68Met) GRCh37: Chr1:64059362 GRCh38: Chr1:63593691	PGM1	K68M	PGM1-congenital disorder of glycosylation	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 250848562.	NM_002633.3(PGM1):c.209C>T (p.Ala70Val) GRCh37: Chr1:64059368 GRCh38: Chr1:63593697	PGM1	A70V	Inborn genetic diseases	Uncertain significance (Mar 29, 2023)	criteria provided, single submitter
Select item 140102663.	NM_002633.3(PGM1):c.216G>C (p.Gln72His) GRCh37: Chr1:64059375 GRCh38: Chr1:63593704	PGM1	Q72H	PGM1-congenital disorder of glycosylation	Uncertain significance (Oct 18, 2021)	criteria provided, single submitter
Select item 73191364.	NM_002633.3(PGM1):c.216G>A (p.Gln72=) GRCh37: Chr1:64059375 GRCh38: Chr1:63593704	PGM1		not provided	Likely benign (Jan 4, 2018)	criteria provided, single submitter
Select item 215566265.	NM_002633.3(PGM1):c.243C>T (p.Asn81=) GRCh37: Chr1:64059402 GRCh38: Chr1:63593731	PGM1		PGM1-congenital disorder of glycosylation	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 230456166.	NM_002633.3(PGM1):c.244G>A (p.Gly82Arg) GRCh37: Chr1:64059403 GRCh38: Chr1:63593732	PGM1	G82R	Inborn genetic diseases	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 87460567.	NM_002633.3(PGM1):c.244G>T (p.Gly82Trp) GRCh37: Chr1:64059403 GRCh38: Chr1:63593732	PGM1	G82W	Inborn genetic diseases, PGM1-congenital disorder of glycosylation	Uncertain significance (Nov 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216064468.	NM_002633.3(PGM1):c.246G>A (p.Gly82=) GRCh37: Chr1:64059405 GRCh38: Chr1:63593734	PGM1		PGM1-congenital disorder of glycosylation	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 207773769.	NM_002633.3(PGM1):c.246+8A>G GRCh37: Chr1:64059413 GRCh38: Chr1:63593742	PGM1		PGM1-congenital disorder of glycosylation	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 191491970.	NM_002633.3(PGM1):c.246+11C>T GRCh37: Chr1:64059416 GRCh38: Chr1:63593745	PGM1		PGM1-congenital disorder of glycosylation	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 214095671.	NM_002633.3(PGM1):c.246+20_246+21delinsAA GRCh37: Chr1:64059425-64059426 GRCh38: Chr1:63593754-63593755	PGM1		PGM1-congenital disorder of glycosylation	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 125904572.	NM_002633.3(PGM1):c.246+67C>T GRCh37: Chr1:64059472 GRCh38: Chr1:63593801	PGM1		not provided	Benign (Jun 23, 2018)	criteria provided, single submitter
Select item 121663373.	NM_002633.3(PGM1):c.246+88C>T GRCh37: Chr1:64059493 GRCh38: Chr1:63593822	PGM1		not provided	Likely benign (Jul 7, 2018)	criteria provided, single submitter
Select item 120436074.	NM_002633.3(PGM1):c.246+197C>T GRCh37: Chr1:64059602 GRCh38: Chr1:63593931	PGM1		not provided	Likely benign (Oct 2, 2018)	criteria provided, single submitter
Select item 67617475.	NM_002633.3(PGM1):c.246+239C>G GRCh37: Chr1:64059644 GRCh38: Chr1:63593973	PGM1		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 118988176.	NM_002633.3(PGM1):c.246+312C>T GRCh37: Chr1:64059717 GRCh38: Chr1:63594046	PGM1		not provided	Likely benign (Oct 2, 2018)	criteria provided, single submitter
Select item 121189677.	NM_002633.3(PGM1):c.246+320G>C GRCh37: Chr1:64059725 GRCh38: Chr1:63594054	PGM1		not provided	Likely benign (Jul 27, 2018)	criteria provided, single submitter
Select item 126942278.	NM_002633.3(PGM1):c.246+458T>A GRCh37: Chr1:64059863 GRCh38: Chr1:63594192	PGM1		not provided	Benign (Jun 23, 2018)	criteria provided, single submitter
Select item 132725379.	NM_002633.3(PGM1):c.246+515T>C GRCh37: Chr1:64059920 GRCh38: Chr1:63594249	PGM1		not provided	Benign (Dec 1, 2021)	criteria provided, single submitter
Select item 126131780.	NM_002633.3(PGM1):c.246+547del GRCh37: Chr1:64059952 GRCh38: Chr1:63594281	PGM1		not provided	Benign (Jun 23, 2018)	criteria provided, single submitter
Select item 67247281.	NM_002633.3(PGM1):c.247-6445A>G GRCh37: Chr1:64088651 GRCh38: Chr1:63622980	PGM1		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 127114682.	NM_002633.3(PGM1):c.247-6436G>A GRCh37: Chr1:64088660 GRCh38: Chr1:63622989	PGM1		not provided	Benign (Nov 9, 2018)	criteria provided, single submitter
Select item 120887883.	NM_002633.3(PGM1):c.247-6400T>A GRCh37: Chr1:64088696 GRCh38: Chr1:63623025	PGM1		not provided	Likely benign (Jul 15, 2018)	criteria provided, single submitter
Select item 67625384.	NM_002633.3(PGM1):c.247-6087T>G GRCh37: Chr1:64089009 GRCh38: Chr1:63623338	PGM1		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 48903085.	NM_002633.3(PGM1):c.247-5810G>A GRCh37: Chr1:64089286 GRCh38: Chr1:63623615	PGM1	C52Y	not provided	Uncertain significance (Jan 22, 2018)	criteria provided, single submitter
Select item 50105486.	NM_002633.3(PGM1):c.247-5801A>G GRCh37: Chr1:64089295 GRCh38: Chr1:63623624	PGM1	E55G	not provided	Uncertain significance (Mar 24, 2017)	criteria provided, single submitter
Select item 108344587.	NM_002633.3(PGM1):c.247-5696A>T GRCh37: Chr1:64089400 GRCh38: Chr1:63623729	PGM1	E90V	PGM1-congenital disorder of glycosylation, not provided, not specified	Conflicting interpretations of pathogenicity (Jan 31, 2020)	criteria provided, conflicting interpretations
Select item 44592488.	NM_002633.3(PGM1):c.247-5664G>A GRCh37: Chr1:64089432 GRCh38: Chr1:63623761	PGM1		PGM1-congenital disorder of glycosylation, not provided	Benign/Likely benign (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 67116589.	NM_002633.3(PGM1):c.247-316G>A GRCh37: Chr1:64094780 GRCh38: Chr1:63629109	PGM1		not provided	Benign (Jun 19, 2018)	criteria provided, single submitter
Select item 67617590.	NM_002633.3(PGM1):c.247-54G>T GRCh37: Chr1:64095042 GRCh38: Chr1:63629371	PGM1		not provided	Benign (Jun 16, 2018)	criteria provided, single submitter
Select item 79989091.	NM_002633.3(PGM1):c.247-7C>T GRCh37: Chr1:64095089 GRCh38: Chr1:63629418	PGM1		PGM1-congenital disorder of glycosylation	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 87552792.	NM_002633.3(PGM1):c.247-5C>T GRCh37: Chr1:64095091 GRCh38: Chr1:63629420	PGM1		PGM1-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 120230693.	NM_002633.3(PGM1):c.249C>A (p.Ile83=) GRCh37: Chr1:64095098 GRCh38: Chr1:63629427	PGM1		not provided, PGM1-congenital disorder of glycosylation	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38764294.	NM_002633.3(PGM1):c.249C>T (p.Ile83=) GRCh37: Chr1:64095098 GRCh38: Chr1:63629427	PGM1		PGM1-congenital disorder of glycosylation, not provided	Likely benign (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64729995.	NM_002633.3(PGM1):c.253C>T (p.Arg85Cys) GRCh37: Chr1:64095102 GRCh38: Chr1:63629431	PGM1	R103C, R85C	not specified, not provided, PGM1-congenital disorder of glycosylation	Uncertain significance (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142659296.	NM_002633.3(PGM1):c.254G>A (p.Arg85His) GRCh37: Chr1:64095103 GRCh38: Chr1:63629432	PGM1	R85H, R103H	PGM1-congenital disorder of glycosylation	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 239468697.	NM_002633.3(PGM1):c.259G>A (p.Val87Ile) GRCh37: Chr1:64095108 GRCh38: Chr1:63629437	PGM1	V105I, V87I	Inborn genetic diseases	Uncertain significance (Dec 7, 2021)	criteria provided, single submitter
Select item 204426698.	NM_002633.3(PGM1):c.261T>C (p.Val87=) GRCh37: Chr1:64095110 GRCh38: Chr1:63629439	PGM1		PGM1-congenital disorder of glycosylation	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 29787199.	NM_002633.3(PGM1):c.262A>G (p.Ile88Val) GRCh37: Chr1:64095111 GRCh38: Chr1:63629440	PGM1	I88V, I106V	not specified, PGM1-congenital disorder of glycosylation, Congenital disorder of glycosylation	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 385810100.	NM_002633.3(PGM1):c.264C>T (p.Ile88=) GRCh37: Chr1:64095113 GRCh38: Chr1:63629442	PGM1		not specified, PGM1-congenital disorder of glycosylation	Likely benign (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts

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