| - 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 |
| - 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 |
| - GRCh37:
- Chr1:53661918
- GRCh38:
- Chr1:53196246
| CPT2 | | not provided | Likely benign
(Aug 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53661966
- GRCh38:
- Chr1:53196294
| CPT2 | | not provided | Benign
(Jun 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662139
- GRCh38:
- Chr1:53196467
| CPT2 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662155
- GRCh38:
- Chr1:53196483
| CPT2 | | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662331
- GRCh38:
- Chr1:53196659
| CPT2 | | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662334
- GRCh38:
- Chr1:53196662
| CPT2 | | Carnitine palmitoyltransferase II deficiency, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, neonatal form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form
| Uncertain significance
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:53662374
- GRCh38:
- Chr1:53196702
| CPT2 | | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662374
- GRCh38:
- Chr1:53196702
| CPT2 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662387
- GRCh38:
- Chr1:53196715
| CPT2 | | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662400
- GRCh38:
- Chr1:53196728
| CPT2 | | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662499
- GRCh38:
- Chr1:53196827
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662515
- GRCh38:
- Chr1:53196843
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662621
- GRCh38:
- Chr1:53196949
| CPT2, LOC129930561 | | not provided | Likely benign
(Dec 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662622
- GRCh38:
- Chr1:53196950
| CPT2, LOC129930561 | P3S | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662624
- GRCh38:
- Chr1:53196952
| LOC129930561, CPT2 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662627
- GRCh38:
- Chr1:53196955
| CPT2, LOC129930561 | | not provided | Uncertain significance
(Jun 21, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662630
- GRCh38:
- Chr1:53196958
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662630
- GRCh38:
- Chr1:53196958
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form,
Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, neonatal form | Likely benign
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:53662641
- GRCh38:
- Chr1:53196969
| CPT2, LOC129930561 | A9V | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662643-53662644
- GRCh38:
- Chr1:53196971-53196972
| CPT2, LOC129930561 | W10* | Carnitine palmitoyltransferase II deficiency, not provided | Pathogenic
(Jul 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:53662644
- GRCh38:
- Chr1:53196972
| CPT2, LOC129930561 | W10S | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662645
- GRCh38:
- Chr1:53196973
| CPT2, LOC129930561 | W10C | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662648
- GRCh38:
- Chr1:53196976
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662648
- GRCh38:
- Chr1:53196976
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Oct 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662649
- GRCh38:
- Chr1:53196977
| CPT2, LOC129930561 | R12W | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Sep 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662650
- GRCh38:
- Chr1:53196978
| CPT2, LOC129930561 | R12Q | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662650
- GRCh38:
- Chr1:53196978
| CPT2, LOC129930561 | G13fs | Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form | Pathogenic/Likely pathogenic
(May 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:53662651-53662652
- GRCh38:
- Chr1:53196979-53196980
| CPT2, LOC129930561 | V16fs | Carnitine palmitoyltransferase II deficiency | Pathogenic
(May 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662651
- GRCh38:
- Chr1:53196979
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662652-53662654
- GRCh38:
- Chr1:53196980-53196982
| CPT2, LOC129930561 | G13del | Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form,
Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form
| Uncertain significance
(Mar 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:53662653-53662654
- GRCh38:
- Chr1:53196981-53196982
| CPT2, LOC129930561 | G13fs | Carnitine palmitoyl transferase II deficiency, severe infantile form | Likely pathogenic
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662654
- GRCh38:
- Chr1:53196982
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Mar 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662655
- GRCh38:
- Chr1:53196983
| CPT2, LOC129930561 | P14S | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662657
- GRCh38:
- Chr1:53196985
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Nov 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662657
- GRCh38:
- Chr1:53196985
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Jan 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662660
- GRCh38:
- Chr1:53196988
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Nov 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662660
- GRCh38:
- Chr1:53196988
| CPT2, LOC129930561 | | not specified, Carnitine palmitoyltransferase II deficiency | Conflicting interpretations of pathogenicity
(Feb 17, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:53662661
- GRCh38:
- Chr1:53196989
| CPT2, LOC129930561 | V16F | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662664
- GRCh38:
- Chr1:53196992
| CPT2, LOC129930561 | G17C | not specified | Uncertain significance
(Sep 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662666-53662667
- GRCh38:
- Chr1:53196994-53196995
| CPT2, LOC129930561 | L25fs | Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form
| Likely pathogenic
(Jul 18, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662668
- GRCh38:
- Chr1:53196996
| CPT2, LOC129930561 | P18L | not provided, Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:53662671
- GRCh38:
- Chr1:53196999
| CPT2, LOC129930561 | G19E | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Jan 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662672
- GRCh38:
- Chr1:53197000
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Jun 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662674
- GRCh38:
- Chr1:53197002
| CPT2, LOC129930561 | A20V | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662675
- GRCh38:
- Chr1:53197003
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662677
- GRCh38:
- Chr1:53197005
| CPT2, LOC129930561 | P21H | Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form | Uncertain significance
(Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:53662679
- GRCh38:
- Chr1:53197007
| CPT2, LOC129930561 | S22C | Inborn genetic diseases | Likely benign
(Aug 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662680
- GRCh38:
- Chr1:53197008
| CPT2, LOC129930561 | S22I | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Jul 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662680
- GRCh38:
- Chr1:53197008
| CPT2, LOC129930561 | S22N | Carnitine palmitoyl transferase II deficiency, neonatal form, Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Mar 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:53662681
- GRCh38:
- Chr1:53197009
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Nov 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662682
- GRCh38:
- Chr1:53197010
| CPT2, LOC129930561 | R23G | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662682-53662707
- GRCh38:
- Chr1:53197010-53197035
| CPT2, LOC129930561 | L25fs | Carnitine palmitoyl transferase II deficiency, severe infantile form | Likely pathogenic
(Dec 14, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662684
- GRCh38:
- Chr1:53197012
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Dec 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662684
- GRCh38:
- Chr1:53197012
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Jul 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662687
- GRCh38:
- Chr1:53197015
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662689
- GRCh38:
- Chr1:53197017
| CPT2, LOC129930561 | L25P | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662690
- GRCh38:
- Chr1:53197018
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662690
- GRCh38:
- Chr1:53197018
| LOC129930561, CPT2 | S26fs | Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, neonatal form,
Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, myopathic form | Pathogenic/Likely pathogenic
(Oct 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:53662697
- GRCh38:
- Chr1:53197025
| CPT2, LOC129930561 | G28R | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662699
- GRCh38:
- Chr1:53197027
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Jun 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662699
- GRCh38:
- Chr1:53197027
| CPT2, LOC129930561 | | not specified, Carnitine palmitoyltransferase II deficiency | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:53662700
- GRCh38:
- Chr1:53197028
| CPT2, LOC129930561 | S29A | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662701
- GRCh38:
- Chr1:53197029
| CPT2, LOC129930561 | S29C | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662702
- GRCh38:
- Chr1:53197030
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662703
- GRCh38:
- Chr1:53197031
| CPT2, LOC129930561 | G30R | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662703
- GRCh38:
- Chr1:53197031
| CPT2, LOC129930561 | G30R | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662703
- GRCh38:
- Chr1:53197031
| CPT2, LOC129930561 | G30W | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662704
- GRCh38:
- Chr1:53197032
| CPT2, LOC129930561 | G30E | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662705
- GRCh38:
- Chr1:53197033
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662706
- GRCh38:
- Chr1:53197034
| CPT2, LOC129930561 | P31S | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662708
- GRCh38:
- Chr1:53197036
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Nov 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662709
- GRCh38:
- Chr1:53197037
| CPT2, LOC129930561 | G32fs | Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form
| Likely pathogenic
(May 3, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662713
- GRCh38:
- Chr1:53197041
| LOC129930561, CPT2 | Q33fs | Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Encephalopathy, acute, infection-induced, susceptibility to, 4,
Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyltransferase II deficiency, not provided
| Pathogenic
(Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:53662714
- GRCh38:
- Chr1:53197042
| CPT2, LOC129930561 | Q33H | Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form | Uncertain significance
(Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:53662717
- GRCh38:
- Chr1:53197045
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662717
- GRCh38:
- Chr1:53197045
| CPT2, LOC129930561 | Y34* | Carnitine palmitoyl transferase II deficiency, severe infantile form | Likely pathogenic
(Jan 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662718
- GRCh38:
- Chr1:53197046
| LOC129930561, CPT2 | | Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form,
Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, neonatal form | Likely benign
(Dec 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:53662722-53662723
- GRCh38:
- Chr1:53197050-53197051
| CPT2, LOC129930561 | S38fs | Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyltransferase II deficiency, not provided | Pathogenic/Likely pathogenic
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:53662723
- GRCh38:
- Chr1:53197051
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662724
- GRCh38:
- Chr1:53197052
| CPT2, LOC129930561 | R37C | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662726
- GRCh38:
- Chr1:53197054
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662737
- GRCh38:
- Chr1:53197065
| LOC129930561, CPT2 | P41L | Carnitine palmitoyltransferase II deficiency, not provided | Uncertain significance
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:53662737
- GRCh38:
- Chr1:53197065
| LOC129930561, CPT2 | P41H | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662738
- GRCh38:
- Chr1:53197066
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Jul 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662745
- GRCh38:
- Chr1:53197073
| CPT2, LOC129930561 | H44Y | Inborn genetic diseases, Carnitine palmitoyltransferase II deficiency, not provided
| Uncertain significance
(Dec 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:53662746
- GRCh38:
- Chr1:53197074
| CPT2, LOC129930561 | H44R | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662748
- GRCh38:
- Chr1:53197076
| LOC129930561, CPT2 | Y45H | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662750
- GRCh38:
- Chr1:53197078
| CPT2, LOC129930561 | | Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form, Encephalopathy, acute, infection-induced, susceptibility to, 4,
Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyltransferase II deficiency | Likely benign
(May 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:53662750
- GRCh38:
- Chr1:53197078
| CPT2, LOC129930561 | Y45* | Carnitine palmitoyltransferase II deficiency | Pathogenic
(Jul 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662758
- GRCh38:
- Chr1:53197086
| CPT2, LOC129930561 | S48T | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662758
- GRCh38:
- Chr1:53197086
| CPT2, LOC129930561 | S48N | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Feb 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662759
- GRCh38:
- Chr1:53197087
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662759
- GRCh38:
- Chr1:53197087
| CPT2, LOC129930561 | S48R | Carnitine palmitoyltransferase II deficiency | Uncertain significance
(Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662762
- GRCh38:
- Chr1:53197090
| CPT2, LOC129930561 | | Carnitine palmitoyltransferase II deficiency | Likely benign
(Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662763
- GRCh38:
- Chr1:53197091
| CPT2, LOC129930561 | P50S | Carnitine palmitoyltransferase II deficiency | Likely pathogenic
(Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662763-53662764
- GRCh38:
- Chr1:53197091-53197092
| CPT2, LOC129930561 | P50fs | Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, neonatal form
| Likely pathogenic
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662763
- GRCh38:
- Chr1:53197091
| CPT2, LOC129930561 | R51fs | Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, neonatal form
| Likely pathogenic
(Jan 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53662764
- GRCh38:
- Chr1:53197092
| CPT2, LOC129930561 | P50H | Encephalopathy, acute, infection-induced, susceptibility to, 4, Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form,
Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyltransferase II deficiency, not provided,
Carnitine palmitoyl transferase II deficiency, severe infantile form, Inappropriate sinus tachycardia, Arthritis,
Abnormal autonomic nervous system physiology, Polyarticular arthritisChronic pain,
Sinus tachycardia, Pancytopenia, Gastrointestinal dysmotility,
...see more | Pathogenic
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |