25973[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	LOC129388541, LOC129388542, LOC129388543, LOC129388544, LOC129388545, LOC129388546, LOC129388547, LOC129388548, LOC129388549, LOC129388550, LOC129388551, LOC129388552, LOC129930549, LOC129930550, LOC129930551, LOC129930552, LOC129930553, LOC129930554, LOC129930555, LOC129930556, LOC129930557, LOC129930558, LOC129930559, LOC129930560, LOC129930561, LOC129930562, LOC129930563, LOC129930564, LOC129930565, LOC129930566, LOC129930567, LOC129930568, LOC129930569, LOC129930570, LOC129930571, LOC129930572, LOC129930573, LOC129930574, LOC129930575, LOC129930576, LOC129930577, LOC129930578, LOC129930579, LOC129930580, LOC129930581, LOC129930582, LOC129930583, LOC129930584, LOC129930585, LOC129930586, LOC129930587, LOC129930588, LOC129930589, LOC129930590, LOC129930591, LOC129930592, LOC129930593, LOC129930594, LOC129930595, LOC129930596, LOC129930597, LOC129930598, LOC129930599, LOC129930600, LOC129930601, LOC129930602, LOC129930603, LOC129930604, LOC129930605, LOC129930606, LOC129930607, LOC129930608, LOC129930609, LOC129930610, LOC129930611, LOC129930612, LOC129930613, LOC129930614, LOC129930615, LOC129930616, LOC129930617, LOC129930618, LOC129930619, LOC129930620, LOC129930621, LOC129930622, LOC129930623, LOC129930624, LOC129930625, LOC129930626, LOC129930627, LOC129930628, LOC129930629, LOC129930630, LOC129930631, LOC129930632, LOC129930633, LOC129930634, LOC129930635, LOC129930636, LOC129930637, LOC129930638, LOC129930639, LOC129930640, LOC129930641, LOC129930642, LOC129930643, LOC129930644, LOC129930645, LOC129930646, LOC129930647, LOC129930648, LOC129930649, LOC129930650, LOC129930651, LOC129930652, LOC129930653, LOC129930654, LOC129930655, LOC129930656, LOC129930657, LOC129930658, LOC129930659, LOC129930660, LOC129930661, LOC129930662, LOC129930663, LOC129930664, LOC129930665, LOC129930666, LOC129930667, LOC129930668, LOC129930669, LOC129930670, LOC129930671, LOC129930672, LOC129930673, LOC129930674, LOC129930675, LOC129930676, LOC129930677, LOC129930678, LOC129930679, LOC129930680, LOC129930681, LOC129930682, LOC129930683, LOC129930684, LOC129930685, LOC129930686, LOC129930687, LOC129930688, LOC129930689, LOC129930690, LOC129930691, LOC129930692, LOC129930693, LOC129930694, LOC129930695, LOC129930696, LOC129930697, LOC129930698, LOC129930699, LOC129930700, LOC129930701, LOC129930702, LOC129930703, LOC129930704, LOC129930705, LOC129930706, LOC129930707, LOC129930708, LOC129930709, LOC129930710, LOC129930711, LOC129930712, LOC129930713, LOC129930714, LOC129930715, LOC129930716, LOC129930717, LOC129930718, LOC129930719, LOC129930720, LOC129930721, LOC129930722, LOC129930723, LOC129930724, LOC129930725, LOC129930726, LOC129930727, LOC129930728, LOC129930729, LOC129930730, LOC129930731, LOC129930732, LOC129930733, LOC129930734, LOC129930735, LOC129930736, LOC129930737, LOC129930738, LOC129930739, LOC129930740, LOC129930741, LOC129930742, LOC129930743, LOC129930744, LOC129930745, LOC129930746, LOC129930747, LOC129930748, LOC129930749, LOC129930750, LOC129930751, LOC129930752, LOC129930753, LOC129930754, LOC129930755, LOC129930756, LOC129930757, LOC129930758, LOC129930759, LOC129930760, LOC129930761, LOC129930762, LOC129930763, LOC129930764, LOC129930765, LOC129930766, LOC129930767, LOC129930768, LOC129930769, LOC129930770, LOC129930771, LOC129930772, LOC129930773, LOC129930774, LOC129930775, LOC129930776, LOC129930777, LOC129930778, LOC129930779, LOC129930780, LOC129930781, LOC129930782, LOC132088728, LOC132088729, LOC132088730, LOC132088731, LOC132088732, LOC132088733, LOC132088734, LOC132088735, LOC132090664, LRP8, LRP8-DT, LRRC40, LRRC42, LRRC53, LRRC7, LRRC7-AS1, LRRIQ3, MAGOH, MAGOH-DT, MIER1, MIR101-1, MIR12132, MIR1262, MIR186, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4422, MIR4422HG, MIR4711, MIR4781, MIR4794, MIR6068, MROH7, MROH7-TTC4, MRPL37, MSH4, MYSM1, NDC1, NEGR1, NEGR1-IT1, NFIA, NFIA-AS1, NFIA-AS2, OMA1, PARS2, PATJ, PATJ-DT, 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, ACADM, ACOT11, AK4, ALG6, ANGPTL3, ANKRD13C, ANKRD13C-DT, ASB17, ATG4C, BSND, C1orf141, C1orf87, C8A, C8B, CACHD1, CDCP2, CIMAP2, COA7, CPT2, CRYZ, CTH, CYB5RL, CYP2J2, CZIB, CZIB-DT, DAB1, DAB1-AS1, DEPDC1, DEPDC1-AS1, DHCR24, DIO1, DIRAS3, DLEU2L, DMRTB1, DNAI4, DNAJC6, DOCK7, DOCK7-DT, DYNLT5, ECHDC2, EFCAB7, ERICH3, ERICH3-AS1, FAM151A, FGGY, FOXD3, FOXD3-AS1, FPGT, FPGT-TNNI3K, FYB2, GADD45A, GLIS1, GNG12, GNG12-AS1, GPX7, HOOK1, HSD52, IFT25, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, JUN, JUN-DT, KANK4, L1TD1, LDLRAD1, LEPR, LEPROT, LHX8, LHX8-AS1, LINC00466, LINC01358, LINC01359, LINC01360, LINC01707, LINC01739, LINC01748, LINC01753, LINC01755, LINC01758, LINC01767, LINC01788, LINC02238, LINC02567, LINC02777, LINC02784, LINC02791, LINC02796, LINC03102, LOC100507634, LOC101926944, LOC101926964, LOC101927342, LOC101929935, LOC105378798, 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, LOC129388524, LOC129388525, LOC129388526, LOC129388527, LOC129388528, LOC129388529, LOC129388530, LOC129388531, LOC129388532, LOC129388533, LOC129388534, LOC129388535, LOC129388536, LOC129388537, LOC129388538, LOC129388539, LOC129388540		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	LOC129930559, LOC129930560, LOC129930561, LOC129930562, LOC129930563, LOC129930564, LOC129930565, LOC129930566, LOC129930567, LOC129930568, LOC129930569, LOC129930570, LOC129930571, LOC129930572, LOC129930573, LOC129930574, LOC129930575, LOC129930576, LOC129930577, LOC129930578, LOC129930579, LOC129930580, LOC129930581, LOC129930582, LOC129930583, LOC129930584, LOC129930585, LOC129930586, LOC129930587, LOC129930588, LOC129930589, LOC129930590, LOC129930591, LOC129930592, LOC129930593, LOC129930594, LOC129930595, LOC129930596, LOC129930597, LOC129930598, LOC129930599, LOC129930600, LOC129930601, LOC129930602, LOC129930603, LOC129930604, LOC129930605, LOC129930606, LOC129930607, LOC129930608, LOC129930609, LOC129930610, LOC129930611, LOC129930612, LOC129930613, LOC129930614, LOC129930615, LOC129930616, LOC129930617, LOC129930618, LOC129930619, LOC129930620, LOC129930621, LOC129930622, LOC129930623, LOC129930624, LOC129930625, LOC129930626, LOC129930627, LOC129930628, LOC129930629, LOC129930630, LOC129930631, LOC129930632, LOC129930633, LOC129930634, LOC129930635, LOC129930636, LOC129930637, LOC129930638, LOC129930639, LOC129930640, LOC129930641, LOC129930642, LOC129930643, LOC129930644, LOC129930645, LOC129930646, LOC129930647, LOC129930648, LOC129930649, LOC129930650, LOC129930651, LOC129930652, LOC129930653, LOC129930654, LOC129930655, LOC129930656, LOC129930657, LOC129930658, LOC129930659, LOC129930660, LOC129930661, LOC129930662, LOC129930663, LOC129930664, LOC129930665, LOC129930666, LOC129930667, LOC129930668, LOC129930669, LOC129930670, LOC129930671, LOC129930672, LOC129930673, LOC129930674, LOC129930675, LOC129930676, LOC129930677, LOC129930678, LOC129930679, LOC129930680, LOC129930681, LOC129930682, LOC129930683, LOC129930684, LOC129930685, LOC129930686, LOC129930687, LOC129930688, LOC129930689, LOC129930690, LOC129930691, LOC129930692, LOC129930693, LOC129930694, LOC129930695, LOC129930696, LOC129930697, LOC129930698, LOC129930699, LOC129930700, LOC129930701, LOC129930702, LOC129930703, LOC129930704, LOC129930705, LOC129930706, LOC129930707, LOC129930708, LOC129930709, LOC129930710, LOC129930711, LOC129930712, LOC129930713, LOC129930714, LOC129930715, LOC129930716, LOC129930717, LOC129930718, LOC129930719, LOC129930720, LOC129930721, LOC129930722, LOC129930723, LOC129930724, LOC129930725, LOC129930726, LOC129930727, LOC129930728, LOC129930729, LOC129930730, LOC129930731, LOC129930732, LOC129930733, LOC129930734, LOC129930735, LOC129930736, LOC129930737, LOC129930738, LOC129930739, LOC132088728, LOC132088729, LOC132088730, LOC132088731, LOC132088732, LOC132088733, LOC132088734, LOC132088735, LOC132090664, LRP8, LRP8-DT, LRRC42, MAGOH, MAGOH-DT, MIER1, MIR101-1, MIR12132, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4422, MIR4422HG, MIR4711, MIR4781, MIR4794, MIR6068, MROH7, MROH7-TTC4, MRPL37, MYSM1, NDC1, NFIA, NFIA-AS1, NFIA-AS2, OMA1, PARS2, PATJ, PATJ-DT, 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, CIMAP2, CPT2, CYB5RL, CYP2J2, CZIB, CZIB-DT, DAB1, DAB1-AS1, DHCR24, DIO1, DLEU2L, DMRTB1, DNAI4, DNAJC6, DOCK7, DOCK7-DT, DYNLT5, ECHDC2, EFCAB7, FAM151A, FGGY, FOXD3, FOXD3-AS1, FYB2, GLIS1, HOOK1, HSD52, IFT25, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, JUN, JUN-DT, KANK4, L1TD1, LDLRAD1, LEPR, LEPROT, LINC00466, 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, LOC129388525, LOC129388526, LOC129388527, LOC129388528, LOC129388529, LOC129388530, LOC129388531, LOC129388532, LOC129388533, LOC129388534, LOC129388535, LOC129388536, LOC129388537, LOC129388538, LOC129388539, LOC129388540, LOC129388541, LOC129388542, LOC129388543, LOC129388544, LOC129388545, LOC129930557, LOC129930558		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	ACOT11, ALG6, ANGPTL3, ATG4C, BSND, C1orf87, C8A, C8B, CDCP2, CIMAP2, CYB5RL, CYP2J2, DAB1, DAB1-AS1, DHCR24, DIO1, DLEU2L, DOCK7, DOCK7-DT, EFCAB7, FAM151A, FGGY, FOXD3, FOXD3-AS1, FYB2, GLIS1, HOOK1, HSD52, IFT25, ITGB3BP, JUN, JUN-DT, KANK4, L1TD1, LDLRAD1, LINC00466, 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, LOC129388528, LOC129388529, LOC129388530, LOC129388531, LOC129388532, LOC129388533, LOC129388534, LOC129388535, LOC129388536, LOC129388537, LOC129388538, LOC129388539, LOC129388540, LOC129388541, LOC129388542, LOC129930572, LOC129930573, LOC129930574, LOC129930575, LOC129930576, LOC129930577, LOC129930578, LOC129930579, LOC129930580, LOC129930581, LOC129930582, LOC129930583, LOC129930584, LOC129930585, LOC129930586, LOC129930587, LOC129930588, LOC129930589, LOC129930590, LOC129930591, LOC129930592, LOC129930593, LOC129930594, LOC129930595, LOC129930596, LOC129930597, LOC129930598, LOC129930599, LOC129930600, LOC129930601, LOC129930602, LOC129930603, LOC129930604, LOC129930605, LOC129930606, LOC129930607, LOC129930608, LOC129930609, LOC129930610, LOC129930611, LOC129930612, LOC129930613, LOC129930614, LOC129930615, LOC129930616, LOC129930617, LOC129930618, LOC129930619, LOC129930620, LOC129930621, LOC129930622, LOC129930623, LOC129930624, LOC129930625, LOC129930626, LOC129930627, LOC129930628, LOC129930629, LOC129930630, LOC129930631, LOC129930632, LOC129930633, LOC129930634, LOC129930635, LOC129930636, LOC129930637, LOC129930638, LOC129930639, LOC129930640, LOC129930641, LOC129930642, LOC129930643, LOC129930644, LOC129930645, LOC129930646, LOC129930647, LOC129930648, LOC129930649, LOC129930650, LOC129930651, LOC129930652, LOC129930653, LOC129930654, LOC129930655, LOC129930656, LOC129930657, LOC129930658, LOC129930659, LOC129930660, LOC129930661, LOC129930662, LOC129930663, LOC129930664, LOC129930665, LOC129930666, LOC129930667, LOC129930668, LOC129930669, LOC129930670, LOC129930671, LOC129930672, LOC129930673, LOC132088728, LOC132088729, LOC132088730, LOC132088731, LOC132088732, LOC132088733, LOC132088734, LOC132088735, LOC132090664, 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, PATJ-DT, PCSK9, PGM1, PLPP3, PRKAA2, ROR1, ROR1-AS1, SSBP3, SSBP3-AS1, TACSTD2, TCEANC2, TM2D1, TMEM59, TMEM61, TRK-CTT7-1, TTC22, TTC4, UBE2U, USP1, USP24, YIPF1		See cases	Pathogenic (Jul 5, 2011)	no assertion criteria provided
Select item 599684.	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1 GRCh37: Chr1:54203885-61905320 GRCh38: Chr1:53738212-61439648	ACOT11, BSND, C1orf87, C8A, C8B, CDCP2, CIMAP2, CYB5RL, CYP2J2, DAB1, DAB1-AS1, DHCR24, DIO1, FAM151A, FGGY, FYB2, GLIS1, HOOK1, HSD52, IFT25, JUN, JUN-DT, LDLRAD1, LINC01358, LINC01748, LINC01753, LINC01755, LINC01767, LINC02777, LINC02784, LOC100507634, LOC101926944, LOC101926964, LOC101929935, LOC110121125, LOC110121126, LOC110121161, LOC111501769, LOC112590806, LOC112590807, LOC112590808, LOC112590809, LOC112590810, LOC112590812, LOC112590814, LOC120893136, LOC120893137, LOC120893138, LOC120893139, LOC120893140, LOC121725023, LOC121725024, LOC121725025, LOC122056879, LOC122056880, LOC122056881, LOC122056882, LOC122056883, LOC122056884, LOC122056887, LOC122056888, LOC122056889, LOC122056890, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC126805734, LOC126805735, LOC126805736, LOC126805737, LOC126805738, LOC126805739, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC129388529, LOC129388530, LOC129388531, LOC129388532, LOC129388533, LOC129388534, LOC129388535, LOC129388536, LOC129388537, LOC129388538, LOC129388539, LOC129388540, LOC129930572, LOC129930573, LOC129930574, LOC129930575, LOC129930576, LOC129930577, LOC129930578, LOC129930579, LOC129930580, LOC129930581, LOC129930582, LOC129930583, LOC129930584, LOC129930585, LOC129930586, LOC129930587, LOC129930588, LOC129930589, LOC129930590, LOC129930591, LOC129930592, LOC129930593, LOC129930594, LOC129930595, LOC129930596, LOC129930597, LOC129930598, LOC129930599, LOC129930600, LOC129930601, LOC129930602, LOC129930603, LOC129930604, LOC129930605, LOC129930606, LOC129930607, LOC129930608, LOC129930609, LOC129930610, LOC129930611, LOC129930612, LOC129930613, LOC129930614, LOC129930615, LOC129930616, LOC129930617, LOC129930618, LOC129930619, LOC129930620, LOC129930621, LOC129930622, LOC129930623, LOC129930624, LOC129930625, LOC129930626, LOC129930627, LOC129930628, LOC129930629, LOC129930630, LOC129930631, LOC129930632, LOC129930633, LOC129930634, LOC129930635, LOC129930636, LOC129930637, LOC129930638, LOC129930639, LOC129930640, LOC129930641, LOC129930642, LOC129930643, LOC129930644, LOC129930645, LOC129930646, LOC129930647, LOC129930648, LOC132088728, LOC132088729, LOC132088730, LOC132088731, LOC132088732, LOC132088733, LOC132088734, LOC132088735, LOC132090664, LRRC42, MIR4422, MIR4422HG, MIR4711, MIR4781, MROH7, MROH7-TTC4, MRPL37, MYSM1, NDC1, NFIA, NFIA-AS1, NFIA-AS2, OMA1, PARS2, PCSK9, PLPP3, PRKAA2, SSBP3, SSBP3-AS1, TACSTD2, TCEANC2, TMEM59, TMEM61, TRK-CTT7-1, TTC22, TTC4, USP24, YIPF1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 599695.	GRCh38/hg38 1p32.3(chr1:54207426-54756958)x1 GRCh37: Chr1:54673099-55222631 GRCh38: Chr1:54207426-54756958	ACOT11, FAM151A, LINC02784, LOC110121126, LOC120893136, LOC120893137, LOC121725023, LOC129388530, LOC129388531, LOC129388532, LOC129930580, LOC129930581, LOC129930582, LOC129930583, LOC129930584, LOC129930585, LOC129930586, LOC129930587, LOC129930588, LOC129930589, MROH7, MROH7-TTC4, MRPL37, PARS2, SSBP3, SSBP3-AS1, TTC4		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 11896216.	NM_152268.4(PARS2):c.*239T>G GRCh37: Chr1:55223168 GRCh38: Chr1:54757495	PARS2		not provided	Likely benign (Jul 7, 2018)	criteria provided, single submitter
Select item 12652937.	NM_152268.4(PARS2):c.*217G>A GRCh37: Chr1:55223190 GRCh38: Chr1:54757517	PARS2		not provided	Benign (Jun 26, 2018)	criteria provided, single submitter
Select item 12057618.	NM_152268.4(PARS2):c.*210C>T GRCh37: Chr1:55223197 GRCh38: Chr1:54757524	PARS2		not provided	Likely benign (Jul 7, 2018)	criteria provided, single submitter
Select item 12014659.	NM_152268.4(PARS2):c.*145A>G GRCh37: Chr1:55223262 GRCh38: Chr1:54757589	PARS2		not provided	Likely benign (Jun 26, 2018)	criteria provided, single submitter
Select item 208114910.	NM_152268.4(PARS2):c.1402T>C (p.Leu468=) GRCh37: Chr1:55223433 GRCh38: Chr1:54757760	PARS2		not provided	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 192997411.	NM_152268.4(PARS2):c.1370T>C (p.Val457Ala) GRCh37: Chr1:55223465 GRCh38: Chr1:54757792	PARS2	V457A	not provided	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 137857612.	NM_152268.4(PARS2):c.1334C>T (p.Ala445Val) GRCh37: Chr1:55223501 GRCh38: Chr1:54757828	PARS2	A445V	not provided	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 50653913.	NM_152268.4(PARS2):c.1311C>G (p.Gly437=) GRCh37: Chr1:55223524 GRCh38: Chr1:54757851	PARS2		not specified, not provided	Benign (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66915414.	NM_152268.4(PARS2):c.1305C>T (p.Ile435=) GRCh37: Chr1:55223530 GRCh38: Chr1:54757857	PARS2		not provided	Likely benign (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38635715.	NM_152268.4(PARS2):c.1299G>A (p.Val433=) GRCh37: Chr1:55223536 GRCh38: Chr1:54757863	PARS2		not provided	Benign/Likely benign (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 148483216.	NM_152268.4(PARS2):c.1255G>A (p.Gly419Arg) GRCh37: Chr1:55223580 GRCh38: Chr1:54757907	PARS2	G419R	not provided, Inborn genetic diseases	Uncertain significance (Feb 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 38497817.	NM_152268.4(PARS2):c.1254C>T (p.Ile418=) GRCh37: Chr1:55223581 GRCh38: Chr1:54757908	PARS2		not specified	Likely benign (Apr 21, 2016)	criteria provided, single submitter
Select item 216175218.	NM_152268.4(PARS2):c.1242C>A (p.Thr414=) GRCh37: Chr1:55223593 GRCh38: Chr1:54757920	PARS2		not provided	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 51291919.	NM_152268.4(PARS2):c.1177C>T (p.Leu393=) GRCh37: Chr1:55223658 GRCh38: Chr1:54757985	PARS2		not provided	Likely benign (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171192020.	NM_152268.4(PARS2):c.1162G>A (p.Glu388Lys) GRCh37: Chr1:55223673 GRCh38: Chr1:54758000	PARS2	E388K	not provided	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 38117221.	NM_152268.4(PARS2):c.1158C>T (p.Ala386=) GRCh37: Chr1:55223677 GRCh38: Chr1:54758004	PARS2		not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 194185322.	NM_152268.4(PARS2):c.1157C>T (p.Ala386Val) GRCh37: Chr1:55223678 GRCh38: Chr1:54758005	PARS2	A386V	not provided	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 122358223.	NM_152268.4(PARS2):c.1154C>T (p.Ala385Val) GRCh37: Chr1:55223681 GRCh38: Chr1:54758008	PARS2	A385V	not provided	Benign/Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18314824.	NM_152268.4(PARS2):c.1130dup (p.Pro377_Lys378insTer) GRCh37: Chr1:55223704-55223705 GRCh38: Chr1:54758031-54758032	PARS2		Developmental and epileptic encephalopathy, 75	Pathogenic (Jan 1, 2015)	no assertion criteria provided
Select item 150039125.	NM_152268.4(PARS2):c.1129C>G (p.Pro377Ala) GRCh37: Chr1:55223706 GRCh38: Chr1:54758033	PARS2	P377A	not provided	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 98297626.	NM_152268.4(PARS2):c.1129C>T (p.Pro377Ser) GRCh37: Chr1:55223706 GRCh38: Chr1:54758033	PARS2	P377S	Developmental and epileptic encephalopathy, 75	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 50744227.	NM_152268.4(PARS2):c.1116C>T (p.Ala372=) GRCh37: Chr1:55223719 GRCh38: Chr1:54758046	PARS2		not specified, not provided	Benign/Likely benign (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99864428.	NM_152268.4(PARS2):c.1114G>A (p.Ala372Thr) GRCh37: Chr1:55223721 GRCh38: Chr1:54758048	PARS2	A372T	not provided	Uncertain significance (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63256629.	NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg) GRCh37: Chr1:55223744 GRCh38: Chr1:54758071	PARS2	P364R	Inborn genetic diseases, Developmental and epileptic encephalopathy, 75, not provided, not specified	Conflicting interpretations of pathogenicity (May 8, 2023)	criteria provided, conflicting interpretations
Select item 164833830.	NM_152268.4(PARS2):c.1083C>T (p.Val361=) GRCh37: Chr1:55223752 GRCh38: Chr1:54758079	PARS2		not provided	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 139527031.	NM_152268.4(PARS2):c.1081_1082del (p.Val361fs) GRCh37: Chr1:55223753-55223754 GRCh38: Chr1:54758080-54758081	PARS2	V361fs	not provided	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 108676032.	NM_152268.4(PARS2):c.1075G>T (p.Asp359Tyr) GRCh37: Chr1:55223760 GRCh38: Chr1:54758087	PARS2	D359Y	not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Aug 3, 2023)	criteria provided, conflicting interpretations
Select item 215028033.	NM_152268.4(PARS2):c.1070C>T (p.Thr357Ile) GRCh37: Chr1:55223765 GRCh38: Chr1:54758092	PARS2	T357I	not provided	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 208839434.	NM_152268.4(PARS2):c.1056T>C (p.Ile352=) GRCh37: Chr1:55223779 GRCh38: Chr1:54758106	PARS2		not provided	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 169451235.	NM_152268.4(PARS2):c.1036C>T (p.Arg346Trp) GRCh37: Chr1:55223799 GRCh38: Chr1:54758126	PARS2	R346W	not provided	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 258205136.	NM_152268.4(PARS2):c.1021G>A (p.Gly341Ser) GRCh37: Chr1:55223814 GRCh38: Chr1:54758141	PARS2	G341S	not provided	Uncertain significance (Mar 28, 2023)	criteria provided, single submitter
Select item 251977637.	NM_152268.4(PARS2):c.973T>G (p.Phe325Val) GRCh37: Chr1:55223862 GRCh38: Chr1:54758189	PARS2	F325V	Inborn genetic diseases	Uncertain significance (May 9, 2023)	criteria provided, single submitter
Select item 191613838.	NM_152268.4(PARS2):c.955T>A (p.Ser319Thr) GRCh37: Chr1:55223880 GRCh38: Chr1:54758207	PARS2	S319T	not provided	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 192997539.	NM_152268.4(PARS2):c.876C>T (p.Cys292=) GRCh37: Chr1:55223959 GRCh38: Chr1:54758286	PARS2		not provided	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 169898440.	NM_152268.4(PARS2):c.874T>C (p.Cys292Arg) GRCh37: Chr1:55223961 GRCh38: Chr1:54758288	PARS2	C292R	not provided, Developmental and epileptic encephalopathy, 75	Uncertain significance (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180650541.	NM_152268.4(PARS2):c.872A>G (p.Asn291Ser) GRCh37: Chr1:55223963 GRCh38: Chr1:54758290	PARS2	N291S	not provided	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52054842.	NM_152268.4(PARS2):c.865C>T (p.Gln289Ter) GRCh37: Chr1:55223970 GRCh38: Chr1:54758297	PARS2	Q289*	Inborn genetic diseases	Likely pathogenic (Jun 28, 2016)	criteria provided, single submitter
Select item 212723543.	NM_152268.4(PARS2):c.852A>G (p.Thr284=) GRCh37: Chr1:55223983 GRCh38: Chr1:54758310	PARS2		not provided	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 38017244.	NM_152268.4(PARS2):c.843C>T (p.Asn281=) GRCh37: Chr1:55223992 GRCh38: Chr1:54758319	PARS2		not provided, not specified	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 50798945.	NM_152268.4(PARS2):c.840C>T (p.Ala280=) GRCh37: Chr1:55223995 GRCh38: Chr1:54758322	PARS2		not provided, not specified	Likely benign (Jan 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18314946.	NM_152268.4(PARS2):c.836C>T (p.Ser279Leu) GRCh37: Chr1:55223999 GRCh38: Chr1:54758326	PARS2	S279L	Developmental and epileptic encephalopathy, 75, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 1, 2019)	criteria provided, conflicting interpretations
Select item 142166347.	NM_152268.4(PARS2):c.823C>T (p.Arg275Cys) GRCh37: Chr1:55224012 GRCh38: Chr1:54758339	PARS2	R275C	not provided	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 148478448.	NM_152268.4(PARS2):c.805C>T (p.Arg269Trp) GRCh37: Chr1:55224030 GRCh38: Chr1:54758357	PARS2	R269W	not provided	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 255585949.	NM_152268.4(PARS2):c.788T>C (p.Val263Ala) GRCh37: Chr1:55224047 GRCh38: Chr1:54758374	PARS2	V263A	Inborn genetic diseases	Uncertain significance (Jun 2, 2023)	criteria provided, single submitter
Select item 227210950.	NM_152268.4(PARS2):c.758G>A (p.Gly253Asp) GRCh37: Chr1:55224077 GRCh38: Chr1:54758404	PARS2	G253D	Inborn genetic diseases	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 138102751.	NM_152268.4(PARS2):c.754G>A (p.Gly252Arg) GRCh37: Chr1:55224081 GRCh38: Chr1:54758408	PARS2	G252R	not provided, Inborn genetic diseases	Uncertain significance (Jun 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 158674752.	NM_152268.4(PARS2):c.753C>T (p.Ile251=) GRCh37: Chr1:55224082 GRCh38: Chr1:54758409	PARS2		not provided	Likely benign (Oct 20, 2021)	criteria provided, single submitter
Select item 231462153.	NM_152268.4(PARS2):c.749C>T (p.Thr250Ile) GRCh37: Chr1:55224086 GRCh38: Chr1:54758413	PARS2	T250I	Inborn genetic diseases	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 196490554.	NM_152268.4(PARS2):c.739G>T (p.Asp247Tyr) GRCh37: Chr1:55224096 GRCh38: Chr1:54758423	PARS2	D247Y	not provided	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 136195255.	NM_152268.4(PARS2):c.739G>A (p.Asp247Asn) GRCh37: Chr1:55224096 GRCh38: Chr1:54758423	PARS2	D247N	not provided	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 130181656.	NM_152268.4(PARS2):c.706A>G (p.Lys236Glu) GRCh37: Chr1:55224129 GRCh38: Chr1:54758456	PARS2	K236E	not provided	Uncertain significance (Jan 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 38000357.	NM_152268.4(PARS2):c.704A>G (p.Asn235Ser) GRCh37: Chr1:55224131 GRCh38: Chr1:54758458	PARS2	N235S	not specified, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144086258.	NM_152268.4(PARS2):c.671G>A (p.Ser224Asn) GRCh37: Chr1:55224164 GRCh38: Chr1:54758491	PARS2	S224N	not provided	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 219286959.	NM_152268.4(PARS2):c.642C>T (p.Ser214=) GRCh37: Chr1:55224193 GRCh38: Chr1:54758520	PARS2		not provided	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 63256860.	NM_152268.4(PARS2):c.607G>A (p.Glu203Lys) GRCh37: Chr1:55224228 GRCh38: Chr1:54758555	PARS2	E203K	Developmental and epileptic encephalopathy, 75	Uncertain significance (Oct 1, 2019)	criteria provided, single submitter
Select item 63257061.	NM_152268.4(PARS2):c.604C>G (p.Arg202Gly) GRCh37: Chr1:55224231 GRCh38: Chr1:54758558	PARS2	R202G	Developmental and epileptic encephalopathy, 75	Uncertain significance (Oct 1, 2019)	criteria provided, single submitter
Select item 223203962.	NM_152268.4(PARS2):c.602G>A (p.Gly201Asp) GRCh37: Chr1:55224233 GRCh38: Chr1:54758560	PARS2	G201D	Inborn genetic diseases	Uncertain significance (Jun 11, 2021)	criteria provided, single submitter
Select item 190032663.	NM_152268.4(PARS2):c.599G>A (p.Arg200His) GRCh37: Chr1:55224236 GRCh38: Chr1:54758563	PARS2	R200H	not provided	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 227307364.	NM_152268.4(PARS2):c.598C>T (p.Arg200Cys) GRCh37: Chr1:55224237 GRCh38: Chr1:54758564	PARS2	R200C	Inborn genetic diseases	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 143659165.	NM_152268.4(PARS2):c.584G>A (p.Arg195His) GRCh37: Chr1:55224251 GRCh38: Chr1:54758578	PARS2	R195H	not provided, Inborn genetic diseases	Uncertain significance (May 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 155156466.	NM_152268.4(PARS2):c.579G>A (p.Arg193=) GRCh37: Chr1:55224256 GRCh38: Chr1:54758583	PARS2		not provided	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 226145467.	NM_152268.4(PARS2):c.574C>A (p.Pro192Thr) GRCh37: Chr1:55224261 GRCh38: Chr1:54758588	PARS2	P192T	Inborn genetic diseases	Uncertain significance (Nov 15, 2021)	criteria provided, single submitter
Select item 249440668.	NM_152268.4(PARS2):c.568G>C (p.Asp190His) GRCh37: Chr1:55224267 GRCh38: Chr1:54758594	PARS2	D190H	Inborn genetic diseases	Uncertain significance (Mar 6, 2023)	criteria provided, single submitter
Select item 119147469.	NM_152268.4(PARS2):c.560A>G (p.Lys187Arg) GRCh37: Chr1:55224275 GRCh38: Chr1:54758602	PARS2	K187R	not provided, Inborn genetic diseases	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180174670.	NM_152268.4(PARS2):c.559A>T (p.Lys187Ter) GRCh37: Chr1:55224276 GRCh38: Chr1:54758603	PARS2	K187*	Myoepithelial tumor	Uncertain significance (Nov 1, 2022)	no assertion criteria provided
Select item 190031571.	NM_152268.4(PARS2):c.557G>A (p.Arg186Lys) GRCh37: Chr1:55224278 GRCh38: Chr1:54758605	PARS2	R186K	Inborn genetic diseases, not provided	Uncertain significance (Jun 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99865672.	NM_152268.4(PARS2):c.556A>G (p.Arg186Gly) GRCh37: Chr1:55224279 GRCh38: Chr1:54758606	PARS2	R186G	not provided	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160204073.	NM_152268.4(PARS2):c.538C>T (p.Leu180=) GRCh37: Chr1:55224297 GRCh38: Chr1:54758624	PARS2		not provided	Likely benign (Nov 19, 2021)	criteria provided, single submitter
Select item 213454674.	NM_152268.4(PARS2):c.534C>G (p.Pro178=) GRCh37: Chr1:55224301 GRCh38: Chr1:54758628	PARS2		not provided	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 233582875.	NM_152268.4(PARS2):c.523A>C (p.Lys175Gln) GRCh37: Chr1:55224312 GRCh38: Chr1:54758639	PARS2	K175Q	Inborn genetic diseases	Uncertain significance (Dec 15, 2022)	criteria provided, single submitter
Select item 205687376.	NM_152268.4(PARS2):c.523A>G (p.Lys175Glu) GRCh37: Chr1:55224312 GRCh38: Chr1:54758639	PARS2	K175E	not provided	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 197698277.	NM_152268.4(PARS2):c.519C>G (p.Ser173=) GRCh37: Chr1:55224316 GRCh38: Chr1:54758643	PARS2		not provided	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 38143978.	NM_152268.4(PARS2):c.489G>A (p.Thr163=) GRCh37: Chr1:55224346 GRCh38: Chr1:54758673	PARS2		not provided, not specified	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161632979.	NM_152268.4(PARS2):c.477G>A (p.Glu159=) GRCh37: Chr1:55224358 GRCh38: Chr1:54758685	PARS2		not provided	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 164967380.	NM_152268.4(PARS2):c.474C>T (p.His158=) GRCh37: Chr1:55224361 GRCh38: Chr1:54758688	PARS2		not provided	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 201973381.	NM_152268.4(PARS2):c.427A>T (p.Arg143Ter) GRCh37: Chr1:55224408 GRCh38: Chr1:54758735	PARS2	R143*	not provided	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 189826182.	NM_152268.4(PARS2):c.397C>T (p.Arg133Trp) GRCh37: Chr1:55224438 GRCh38: Chr1:54758765	PARS2	R133W	not provided	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 48903583.	NM_152268.4(PARS2):c.383G>A (p.Trp128Ter) GRCh37: Chr1:55224452 GRCh38: Chr1:54758779	PARS2	W128*	not provided	Likely pathogenic (Aug 4, 2017)	criteria provided, single submitter
Select item 242203284.	NM_152268.4(PARS2):c.371C>T (p.Pro124Leu) GRCh37: Chr1:55224464 GRCh38: Chr1:54758791	PARS2	P124L	Inborn genetic diseases, not provided	Uncertain significance (Aug 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 144613985.	NM_152268.4(PARS2):c.368G>T (p.Ser123Ile) GRCh37: Chr1:55224467 GRCh38: Chr1:54758794	PARS2	S123I	not provided	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 207919386.	NM_152268.4(PARS2):c.366C>T (p.Leu122=) GRCh37: Chr1:55224469 GRCh38: Chr1:54758796	PARS2		not provided	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 98314887.	NM_152268.4(PARS2):c.340G>A (p.Gly114Ser) GRCh37: Chr1:55224495 GRCh38: Chr1:54758822	PARS2	G114S	Developmental and epileptic encephalopathy, 75	Uncertain significance (May 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 191002888.	NM_152268.4(PARS2):c.339G>C (p.Gly113=) GRCh37: Chr1:55224496 GRCh38: Chr1:54758823	PARS2		not provided	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 52054989.	NM_152268.4(PARS2):c.323A>G (p.Glu108Gly) GRCh37: Chr1:55224512 GRCh38: Chr1:54758839	PARS2	E108G	Inborn genetic diseases, not provided	Uncertain significance (May 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 238244890.	NM_152268.4(PARS2):c.308G>A (p.Arg103Gln) GRCh37: Chr1:55224527 GRCh38: Chr1:54758854	PARS2	R103Q	Inborn genetic diseases	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 144253791.	NM_152268.4(PARS2):c.304G>A (p.Val102Met) GRCh37: Chr1:55224531 GRCh38: Chr1:54758858	PARS2	V102M	not provided	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 218211792.	NM_152268.4(PARS2):c.303C>T (p.Leu101=) GRCh37: Chr1:55224532 GRCh38: Chr1:54758859	PARS2		not provided	Likely benign (Jan 13, 2022)	criteria provided, single submitter
Select item 222863493.	NM_152268.4(PARS2):c.294G>A (p.Met98Ile) GRCh37: Chr1:55224541 GRCh38: Chr1:54758868	PARS2	M98I	Developmental and epileptic encephalopathy, 75, Inborn genetic diseases	Uncertain significance (Feb 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 150491294.	NM_152268.4(PARS2):c.290C>T (p.Ala97Val) GRCh37: Chr1:55224545 GRCh38: Chr1:54758872	PARS2	A97V	not provided	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 194168195.	NM_152268.4(PARS2):c.286C>T (p.Arg96Cys) GRCh37: Chr1:55224549 GRCh38: Chr1:54758876	PARS2	R96C	not provided	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 43212196.	NM_152268.4(PARS2):c.283G>A (p.Val95Ile) GRCh37: Chr1:55224552 GRCh38: Chr1:54758879	PARS2	V95I	Developmental and epileptic encephalopathy, 75, not provided	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 241855497.	NM_152268.4(PARS2):c.276A>G (p.Pro92=) GRCh37: Chr1:55224559 GRCh38: Chr1:54758886	PARS2		not provided	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 146604998.	NM_152268.4(PARS2):c.260G>A (p.Cys87Tyr) GRCh37: Chr1:55224575 GRCh38: Chr1:54758902	PARS2	C87Y	not provided	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 207119999.	NM_152268.4(PARS2):c.255C>T (p.Pro85=) GRCh37: Chr1:55224580 GRCh38: Chr1:54758907	PARS2		not provided	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 632567100.	NM_152268.4(PARS2):c.239T>C (p.Ile80Thr) GRCh37: Chr1:55224596 GRCh38: Chr1:54758923	PARS2	I80T	Developmental and epileptic encephalopathy, 75	Uncertain significance (Oct 1, 2019)	criteria provided, single submitter

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