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Items: 1 to 100 of 147

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:39200802-49157287
GRCh38:
Chr11:39179252-49135735
ACCS, ACCSL, ACP2, AGBL2, ALKBH3, ALKBH3-AS1, ALX4, AMBRA1, API5, ARFGAP2, ARHGAP1, ATG13, C11orf96, C1QTNF4, CD82, CD82-AS1, CELF1, CHRM4, CHST1, CKAP5, CREB3L1, CRY2, CSTPP1, DDB2, DGKZ, EXT2, F2, FAM180B, FNBP4, FREY1, HARBI1, HSD17B12, KBTBD4, LARGE2, LINC01499, LINC02489, LINC02685, LINC02687, LINC02690, LINC02696, LINC02704, LINC02710, LINC02716, LINC02740, LINC02741, LINC02745, LOC100507384, LOC101928894, LOC110121482, LOC111464990, LOC112081394, LOC112081395, LOC112081396, LOC112081397, LOC112081398, LOC112081399, LOC113939922, LOC113939923, LOC116216135, LOC116216136, LOC121392909, LOC121392910, LOC121392911, LOC121392912, LOC121392913, LOC121392914, LOC121832791, LOC124433248, LOC124433249, LOC124433251, LOC124433252, LOC124433253, LOC124433254, LOC124433255, LOC124433256, LOC124433257, LOC124433258, LOC126861195, LOC126861196, LOC126861197, LOC126861198, LOC126861199, LOC126861200, LOC126861201, LOC126861202, LOC126861203, LOC126861204, LOC126861205, LOC126861206, LOC129390281, LOC129390282, LOC129390283, LOC130005582, LOC130005583, LOC130005584, LOC130005585, LOC130005586, LOC130005587, LOC130005588, LOC130005589, LOC130005590, LOC130005591, LOC130005592, LOC130005593, LOC130005594, LOC130005595, LOC130005596, LOC130005597, LOC130005598, LOC130005599, LOC130005600, LOC130005601, LOC130005602, LOC130005603, LOC130005604, LOC130005605, LOC130005606, LOC130005607, LOC130005608, LOC130005609, LOC130005610, LOC130005611, LOC130005612, LOC130005613, LOC130005614, LOC130005615, LOC130005616, LOC130005617, LOC130005618, LOC130005619, LOC130005620, LOC130005621, LOC130005622, LOC130005623, LOC130005624, LOC130005625, LOC130005626, LOC130005627, LOC130005628, LOC130005629, LOC130005630, LOC130005631, LOC130005632, LOC130005633, LOC130005634, LOC130005635, LOC130005636, LOC130005637, LOC130005638, LOC130005639, LOC130005640, LOC130005641, LOC130005642, LOC130005643, LOC130005644, LOC130005645, LOC130005646, LOC130005647, LOC130005648, LOC130005649, LOC130005650, LOC130005651, LOC130005652, LOC130005653, LOC130005654, LOC130005655, LOC130005656, LOC130005657, LOC130005658, LOC130005659, LOC130005660, LOC130005661, LOC130005662, LOC130005663, LOC130005664, LOC130005665, LOC130005666, LOC130005667, LOC130005668, LOC130005669, LOC130005670, LOC130005671, LOC130005672, LOC130005673, LOC130005674, LOC130005675, LOC130005676, LOC130005677, LOC130005678, LOC130005679, LOC130005680, LOC130005681, LOC130005682, LOC130005683, LOC130005684, LOC130005685, LOC130005686, LOC130005687, LOC130005688, LOC130005689, LOC130005690, LOC130005691, LOC130005692, LOC130005693, LOC130005694, LOC130005695, LOC130005696, LOC130005697, LOC132089937, LOC132089938, LOC132089939, LOC132089940, LOC132090836, LOC132090837, LOC132090838, LRP4, LRP4-AS1, LRRC4C, MADD, MADD-AS1, MAPK8IP1, MDK, MIR129-2, MIR3160-1, MIR3160-2, MIR3161, MIR4487, MIR4688, MIR5582, MIR670, MIR670HG, MIR6745, MIR7154, MTCH2, MYBPC3, NDUFS3, NR1H3, NUP160, OR4A47, OR4B1, OR4C3, OR4C5, OR4S1, OR4X1, OR4X2, PACSIN3, PEX16, PHF21A, PRDM11, PSMC3, PTPMT1, PTPRJ, RAPSN, SLC35C1, SLC39A13, SLC39A13-AS1, SNORD67, SPI1, SYT13, TP53I11, TRIM49B, TRIM51G, TRIM64C, TSPAN18, TTC17, ZNF408
See casesPathogenic
(Apr 14, 2011)
no assertion criteria provided
2.
GRCh37:
Chr11:41139872-48664555
GRCh38:
Chr11:41118322-48643003
LOC130005585, LOC130005586, LOC130005587, LOC130005588, LOC130005589, LOC130005590, LOC130005591, LOC130005592, LOC130005593, LOC130005594, LOC130005595, LOC130005596, LOC130005597, LOC130005598, LOC130005599, LOC130005600, LOC130005601, LOC130005602, LOC130005603, LOC130005604, LOC130005605, LOC130005606, LOC130005607, LOC130005608, LOC130005609, LOC130005610, LOC130005611, LOC130005612, LOC130005613, LOC130005614, LOC130005615, LOC130005616, LOC130005617, LOC130005618, LOC130005619, LOC130005620, LOC130005621, LOC130005622, LOC130005623, LOC130005624, LOC130005625, LOC130005626, LOC130005627, LOC130005628, LOC130005629, LOC130005630, LOC130005631, LOC130005632, LOC130005633, LOC130005634, LOC130005635, LOC130005636, LOC130005637, LOC130005638, LOC130005639, LOC130005640, LOC130005641, LOC130005642, LOC130005643, LOC130005644, LOC130005645, LOC130005646, LOC130005647, LOC130005648, LOC130005649, LOC130005650, LOC130005651, LOC130005652, LOC130005653, LOC130005654, LOC130005655, LOC130005656, LOC130005657, LOC130005658, LOC130005659, LOC130005660, LOC130005661, LOC130005662, LOC130005663, LOC130005664, LOC130005665, LOC130005666, LOC130005667, LOC130005668, LOC130005669, LOC130005670, LOC130005671, LOC130005672, LOC130005673, LOC130005674, LOC130005675, LOC130005676, LOC130005677, LOC130005678, LOC130005679, LOC130005680, LOC130005681, LOC130005682, LOC130005683, LOC130005684, LOC130005685, LOC130005686, LOC130005687, LOC130005688, LOC130005689, LOC130005690, LOC130005691, LOC130005692, LOC130005693, LOC130005694, LOC130005695, LOC130005696, LOC130005697, LOC132089937, LOC132089938, LOC132089939, LOC132089940, LOC132090836, LOC132090837, LOC132090838, LRP4, LRP4-AS1, LRRC4C, MADD, MADD-AS1, MAPK8IP1, MDK, MIR129-2, MIR3160-1, MIR3160-2, MIR3161, MIR4487, MIR4688, MIR5582, MIR670, MIR670HG, MIR6745, MIR7154, MTCH2, MYBPC3, NDUFS3, NR1H3, NUP160, OR4A47, OR4B1, OR4C3, OR4C5, OR4S1, OR4X1, OR4X2, PACSIN3, PEX16, PHF21A, PRDM11, PSMC3, PTPMT1, PTPRJ, RAPSN, SLC35C1, SLC39A13, SLC39A13-AS1, SNORD67, SPI1, SYT13, TP53I11, TSPAN18, TTC17, ZNF408, ACCS, ACCSL, ACP2, AGBL2, ALKBH3, ALKBH3-AS1, ALX4, AMBRA1, API5, ARFGAP2, ARHGAP1, ATG13, C11orf96, C1QTNF4, CD82, CD82-AS1, CELF1, CHRM4, CHST1, CKAP5, CREB3L1, CRY2, CSTPP1, DDB2, DGKZ, EXT2, F2, FAM180B, FNBP4, FREY1, HARBI1, HSD17B12, KBTBD4, LARGE2, LINC01499, LINC02489, LINC02685, LINC02687, LINC02690, LINC02696, LINC02704, LINC02710, LINC02716, LINC02740, LINC02741, LINC02745, LOC100507384, LOC101928894, LOC110121482, LOC111464990, LOC112081394, LOC112081395, LOC112081396, LOC112081397, LOC112081398, LOC112081399, LOC113939922, LOC113939923, LOC116216135, LOC116216136, LOC121392909, LOC121392910, LOC121392911, LOC121392912, LOC121392913, LOC121392914, LOC121832791, LOC124433249, LOC124433251, LOC124433252, LOC124433253, LOC124433254, LOC124433255, LOC124433256, LOC124433257, LOC124433258, LOC126861197, LOC126861198, LOC126861199, LOC126861200, LOC126861201, LOC126861202, LOC126861203, LOC126861204, LOC126861205, LOC126861206, LOC129390281, LOC129390282, LOC129390283, LOC130005582, LOC130005583, LOC130005584
See casesPathogenic
(Jul 30, 2009)
no assertion criteria provided
3.
GRCh37:
Chr11:42749105-49157287
GRCh38:
Chr11:42727555-49135735
ACCS, ACCSL, ACP2, AGBL2, ALKBH3, ALKBH3-AS1, ALX4, AMBRA1, API5, ARFGAP2, ARHGAP1, ATG13, C11orf96, C1QTNF4, CD82, CD82-AS1, CELF1, CHRM4, CHST1, CKAP5, CREB3L1, CRY2, CSTPP1, DDB2, DGKZ, EXT2, F2, FAM180B, FNBP4, FREY1, HARBI1, HSD17B12, KBTBD4, LARGE2, LINC02489, LINC02685, LINC02687, LINC02690, LINC02696, LINC02704, LINC02710, LINC02716, LOC100507384, LOC101928894, LOC110121482, LOC111464990, LOC112081394, LOC112081395, LOC112081396, LOC112081397, LOC112081398, LOC112081399, LOC113939922, LOC113939923, LOC116216135, LOC116216136, LOC121392909, LOC121392910, LOC121392911, LOC121392912, LOC121392913, LOC121392914, LOC121832791, LOC124433249, LOC124433251, LOC124433252, LOC124433253, LOC124433254, LOC124433255, LOC124433256, LOC124433257, LOC124433258, LOC126861199, LOC126861200, LOC126861201, LOC126861202, LOC126861203, LOC126861204, LOC126861205, LOC126861206, LOC129390281, LOC129390282, LOC129390283, LOC130005582, LOC130005583, LOC130005584, LOC130005585, LOC130005586, LOC130005587, LOC130005588, LOC130005589, LOC130005590, LOC130005591, LOC130005592, LOC130005593, LOC130005594, LOC130005595, LOC130005596, LOC130005597, LOC130005598, LOC130005599, LOC130005600, LOC130005601, LOC130005602, LOC130005603, LOC130005604, LOC130005605, LOC130005606, LOC130005607, LOC130005608, LOC130005609, LOC130005610, LOC130005611, LOC130005612, LOC130005613, LOC130005614, LOC130005615, LOC130005616, LOC130005617, LOC130005618, LOC130005619, LOC130005620, LOC130005621, LOC130005622, LOC130005623, LOC130005624, LOC130005625, LOC130005626, LOC130005627, LOC130005628, LOC130005629, LOC130005630, LOC130005631, LOC130005632, LOC130005633, LOC130005634, LOC130005635, LOC130005636, LOC130005637, LOC130005638, LOC130005639, LOC130005640, LOC130005641, LOC130005642, LOC130005643, LOC130005644, LOC130005645, LOC130005646, LOC130005647, LOC130005648, LOC130005649, LOC130005650, LOC130005651, LOC130005652, LOC130005653, LOC130005654, LOC130005655, LOC130005656, LOC130005657, LOC130005658, LOC130005659, LOC130005660, LOC130005661, LOC130005662, LOC130005663, LOC130005664, LOC130005665, LOC130005666, LOC130005667, LOC130005668, LOC130005669, LOC130005670, LOC130005671, LOC130005672, LOC130005673, LOC130005674, LOC130005675, LOC130005676, LOC130005677, LOC130005678, LOC130005679, LOC130005680, LOC130005681, LOC130005682, LOC130005683, LOC130005684, LOC130005685, LOC130005686, LOC130005687, LOC130005688, LOC130005689, LOC130005690, LOC130005691, LOC130005692, LOC130005693, LOC130005694, LOC130005695, LOC130005696, LOC130005697, LOC132089937, LOC132089938, LOC132089939, LOC132089940, LOC132090836, LOC132090837, LOC132090838, LRP4, LRP4-AS1, MADD, MADD-AS1, MAPK8IP1, MDK, MIR129-2, MIR3160-1, MIR3160-2, MIR3161, MIR4487, MIR4688, MIR5582, MIR670, MIR670HG, MIR6745, MIR7154, MTCH2, MYBPC3, NDUFS3, NR1H3, NUP160, OR4A47, OR4B1, OR4C3, OR4C5, OR4S1, OR4X1, OR4X2, PACSIN3, PEX16, PHF21A, PRDM11, PSMC3, PTPMT1, PTPRJ, RAPSN, SLC35C1, SLC39A13, SLC39A13-AS1, SNORD67, SPI1, SYT13, TP53I11, TRIM49B, TRIM51G, TRIM64C, TSPAN18, TTC17, ZNF408
See casesLikely pathogenic
(Aug 2, 2012)
no assertion criteria provided
4.
GRCh37:
Chr11:46862005-48664555
GRCh38:
Chr11:46840454-48643003
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr11:47589813-47617121
GRCh38:
Chr11:47568261-47595569
C1QTNF4, FAM180B, KBTBD4, LOC129390282, LOC129390283, NDUFS3, PTPMT1See casesBenign
(Nov 30, 2010)
no assertion criteria provided
6.
GRCh37:
Chr11:47600352
GRCh38:
Chr11:47578800
KBTBD4, NDUFS3not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr11:47600438
GRCh38:
Chr11:47578886
KBTBD4, NDUFS3not providedBenign
(Jun 23, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr11:47600603
GRCh38:
Chr11:47579051
NDUFS3Mitochondrial complex I deficiency, Leigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr11:47600614
GRCh38:
Chr11:47579062
NDUFS3Mitochondrial complex I deficiency, Leigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr11:47600629
GRCh38:
Chr11:47579077
NDUFS3Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr11:47600645
GRCh38:
Chr11:47579093
NDUFS3M1Rnot providedLikely pathogenic
(Jul 18, 2019)
criteria provided, single submitter
12.
GRCh37:
Chr11:47600646
GRCh38:
Chr11:47579094
NDUFS3M1IInborn genetic diseasesLikely pathogenic
(Dec 31, 2020)
criteria provided, single submitter
13.
GRCh37:
Chr11:47600664
GRCh38:
Chr11:47579112
NDUFS3not providedLikely benign
(Jul 12, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr11:47600665
GRCh38:
Chr11:47579113
NDUFS3R8Wnot providedUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr11:47600665
GRCh38:
Chr11:47579113
NDUFS3R8Gnot providedUncertain significance
(Jun 6, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr11:47600666
GRCh38:
Chr11:47579114
NDUFS3R8Knot providedUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr11:47600669
GRCh38:
Chr11:47579117
NDUFS3L9Pnot providedUncertain significance
(Jul 7, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr11:47600674
GRCh38:
Chr11:47579122
NDUFS3W11RInborn genetic diseasesUncertain significance
(Sep 22, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr11:47600677
GRCh38:
Chr11:47579125
NDUFS3R12CLeigh syndrome, Mitochondrial complex I deficiency, nuclear type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr11:47600680
GRCh38:
Chr11:47579128
NDUFS3G13Rnot providedUncertain significance
(Feb 25, 2023)
criteria provided, single submitter
21.
GRCh37:
Chr11:47600682
GRCh38:
Chr11:47579130
NDUFS3not providedLikely benign
(Mar 1, 2023)
criteria provided, single submitter
22.
GRCh37:
Chr11:47600683
GRCh38:
Chr11:47579131
NDUFS3I14Lnot providedUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr11:47600687-47600688
GRCh38:
Chr11:47579135-47579136
NDUFS3A17fsInborn genetic diseasesPathogenic
(Dec 7, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr11:47600708
GRCh38:
Chr11:47579156
NDUFS3R22Knot providedLikely benign
(Oct 20, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr11:47600714
GRCh38:
Chr11:47579162
NDUFS3not providedUncertain significance
(May 16, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr11:47600816
GRCh38:
Chr11:47579264
NDUFS3not providedLikely benign
(Dec 3, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr11:47600832
GRCh38:
Chr11:47579280
NDUFS3P27SMitochondrial complex I deficiency, nuclear type 1, Inborn genetic diseases, Leigh syndrome,
not provided
Uncertain significance
(Apr 14, 2023)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr11:47600834
GRCh38:
Chr11:47579282
NDUFS3not providedLikely benign
(Jul 30, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr11:47600844
GRCh38:
Chr11:47579292
NDUFS3not specified, Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
30.
GRCh37:
Chr11:47600852
GRCh38:
Chr11:47579300
NDUFS3not providedLikely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr11:47600876
GRCh38:
Chr11:47579324
NDUFS3Mitochondrial complex I deficiency, nuclear type 1, not provided, not specified,
Leigh syndrome
Conflicting interpretations of pathogenicity
(Sep 30, 2022)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr11:47600880
GRCh38:
Chr11:47579328
NDUFS3T43Anot providedUncertain significance
(Jun 28, 2017)
criteria provided, single submitter
33.
GRCh37:
Chr11:47600887-47600890
GRCh38:
Chr11:47579335-47579338
NDUFS3Mitochondrial complex 1 deficiency, nuclear type 8, not providedUncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr11:47600898
GRCh38:
Chr11:47579346
NDUFS3not providedLikely benign
(Aug 23, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr11:47601062
GRCh38:
Chr11:47579510
NDUFS3not providedLikely benign
(Jul 15, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr11:47601977
GRCh38:
Chr11:47580425
NDUFS3not providedBenign
(Jun 23, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr11:47602049
GRCh38:
Chr11:47580497
NDUFS3not providedLikely benign
(Jan 16, 2020)
criteria provided, single submitter
38.
GRCh37:
Chr11:47602060
GRCh38:
Chr11:47580508
NDUFS3not specifiedLikely benign
(Jan 25, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr11:47602092
GRCh38:
Chr11:47580540
NDUFS3R50QInborn genetic diseases, Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Uncertain significance
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr11:47602109
GRCh38:
Chr11:47580557
NDUFS3K56Enot providedUncertain significance
(Feb 4, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr11:47602120
GRCh38:
Chr11:47580568
NDUFS3not providedLikely benign
(Sep 22, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr11:47602128
GRCh38:
Chr11:47580576
NDUFS3G62Vnot provided, Inborn genetic diseasesUncertain significance
(Jul 30, 2023)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr11:47602133
GRCh38:
Chr11:47580581
NDUFS3Y64HMitochondrial complex I deficiency, nuclear type 1, Leigh syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr11:47602147
GRCh38:
Chr11:47580595
NDUFS3I68MLeigh syndrome, Mitochondrial complex I deficiencyUncertain significance
(Nov 21, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr11:47602166
GRCh38:
Chr11:47580614
NDUFS3Q75*Mitochondrial complex 1 deficiency, nuclear type 8Uncertain significance
(Aug 26, 2019)
criteria provided, single submitter
46.
GRCh37:
Chr11:47602172
GRCh38:
Chr11:47580620
NDUFS3Q77Knot providedUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr11:47602179-47602182
GRCh38:
Chr11:47580627-47580630
NDUFS3not providedLikely benign
(Dec 2, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr11:47602183
GRCh38:
Chr11:47580631
NDUFS3not providedLikely benign
(Jul 18, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr11:47602378
GRCh38:
Chr11:47580826
NDUFS3not providedLikely benign
(Mar 2, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr11:47602386
GRCh38:
Chr11:47580834
NDUFS3NDUFS3-Related DisordersUncertain significance
(Dec 10, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr11:47602407
GRCh38:
Chr11:47580855
NDUFS3L84Fnot provided, Inborn genetic diseasesUncertain significance
(Apr 9, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr11:47602410
GRCh38:
Chr11:47580858
NDUFS3E85DInborn genetic diseases, not providedUncertain significance
(Sep 22, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr11:47602424
GRCh38:
Chr11:47580872
NDUFS3P90LInborn genetic diseasesUncertain significance
(Jul 12, 2017)
criteria provided, single submitter
54.
GRCh37:
Chr11:47602432
GRCh38:
Chr11:47580880
NDUFS3V93Inot providedUncertain significance
(Sep 17, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr11:47602449
GRCh38:
Chr11:47580897
NDUFS3not providedLikely benign
(Dec 25, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr11:47602452
GRCh38:
Chr11:47580900
NDUFS3F99Lnot providedUncertain significance
(May 1, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr11:47602495
GRCh38:
Chr11:47580943
NDUFS3L114Vnot providedUncertain significance
(Jun 29, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr11:47602502
GRCh38:
Chr11:47580950
NDUFS3A116Vnot providedUncertain significance
(Apr 20, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr11:47602519
GRCh38:
Chr11:47580967
NDUFS3R122WInborn genetic diseasesUncertain significance
(Feb 14, 2023)
criteria provided, single submitter
60.
GRCh37:
Chr11:47602523
GRCh38:
Chr11:47580971
NDUFS3Q123PInborn genetic diseasesUncertain significance
(Jul 19, 2023)
criteria provided, single submitter
61.
GRCh37:
Chr11:47602528
GRCh38:
Chr11:47580976
NDUFS3R125Cnot providedUncertain significance
(Mar 15, 2023)
criteria provided, single submitter
62.
GRCh37:
Chr11:47602529
GRCh38:
Chr11:47580977
NDUFS3R125HMitochondrial complex I deficiency, not provided, Mitochondrial complex 1 deficiency, nuclear type 8
Conflicting interpretations of pathogenicity
(Jun 9, 2022)
criteria provided, conflicting interpretations
63.
GRCh37:
Chr11:47602538
GRCh38:
Chr11:47580986
NDUFS3not providedUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr11:47602540
GRCh38:
Chr11:47580988
NDUFS3not providedUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr11:47602541
GRCh38:
Chr11:47580989
NDUFS3Mitochondrial complex I deficiency, nuclear type 1, Leigh syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr11:47602542
GRCh38:
Chr11:47580990
NDUFS3Mitochondrial complex 1 deficiency, nuclear type 8, not provided, Mitochondrial complex I deficiency, nuclear type 1,
Leigh syndrome
Uncertain significance
(Jan 23, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr11:47602711-47602712
GRCh38:
Chr11:47581159-47581160
NDUFS3not providedBenign
(Jan 25, 2020)
criteria provided, single submitter
68.
GRCh37:
Chr11:47602712
GRCh38:
Chr11:47581160
NDUFS3not providedBenign
(Oct 10, 2019)
criteria provided, single submitter
69.
GRCh37:
Chr11:47602729
GRCh38:
Chr11:47581177
NDUFS3not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr11:47603639
GRCh38:
Chr11:47582087
NDUFS3Mitochondrial complex 1 deficiency, nuclear type 8Likely pathogenic
(Sep 16, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr11:47603659
GRCh38:
Chr11:47582107
NDUFS3S134Cnot providedUncertain significance
(Feb 29, 2016)
no assertion criteria provided
72.
GRCh37:
Chr11:47603664
GRCh38:
Chr11:47582112
NDUFS3R136Cnot provided, Mitochondrial complex 1 deficiency, nuclear type 8, Inborn genetic diseases
Uncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr11:47603676
GRCh38:
Chr11:47582124
NDUFS3R140WMitochondrial complex 1 deficiency, nuclear type 8, not providedUncertain significance
(Sep 13, 2019)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr11:47603677
GRCh38:
Chr11:47582125
NDUFS3R140QMitochondrial complex 1 deficiency, nuclear type 8Uncertain significance
(Dec 2, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr11:47603682
GRCh38:
Chr11:47582130
NDUFS3R142Cnot providedUncertain significance
(Jan 26, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr11:47603683
GRCh38:
Chr11:47582131
NDUFS3R142HLeigh syndrome, Mitochondrial complex I deficiency, nuclear type 1Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
77.
GRCh37:
Chr11:47603692
GRCh38:
Chr11:47582140
NDUFS3T145IMitochondrial complex 1 deficiency, nuclear type 8, Neurodevelopmental delayPathogenic/Likely pathogenic
(Jan 23, 2019)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr11:47603728-47603729
GRCh38:
Chr11:47582176-47582177
NDUFS3S158fsNeurodevelopmental delayPathogeniccriteria provided, single submitter
79.
GRCh37:
Chr11:47603733
GRCh38:
Chr11:47582181
NDUFS3V159Lnot provided, Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Conflicting interpretations of pathogenicity
(Sep 1, 2023)
criteria provided, conflicting interpretations
80.
GRCh37:
Chr11:47603754
GRCh38:
Chr11:47582202
NDUFS3Y166HInborn genetic diseasesUncertain significance
(Nov 22, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr11:47603763
GRCh38:
Chr11:47582211
NDUFS3E169KInborn genetic diseasesUncertain significance
(Nov 18, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr11:47603775
GRCh38:
Chr11:47582223
NDUFS3not providedLikely benign
(Jul 15, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr11:47603827
GRCh38:
Chr11:47582275
NDUFS3not providedLikely benign
(Dec 5, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr11:47603890
GRCh38:
Chr11:47582338
NDUFS3not providedLikely benign
(Feb 9, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr11:47603931
GRCh38:
Chr11:47582379
NDUFS3N180Hnot providedUncertain significance
(Apr 24, 2019)
criteria provided, single submitter
86.
GRCh37:
Chr11:47603933
GRCh38:
Chr11:47582381
NDUFS3N180Knot providedUncertain significance
(Jan 26, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr11:47603954
GRCh38:
Chr11:47582402
NDUFS3not providedLikely benign
(Sep 22, 2017)
criteria provided, single submitter
88.
GRCh37:
Chr11:47603960-47603961
GRCh38:
Chr11:47582408-47582409
NDUFS3D190fsnot providedPathogenic
(May 2, 2012)
criteria provided, single submitter
89.
GRCh37:
Chr11:47603972
GRCh38:
Chr11:47582420
NDUFS3not providedLikely benign
(Jul 25, 2019)
criteria provided, single submitter
90.
GRCh37:
Chr11:47603973
GRCh38:
Chr11:47582421
NDUFS3E194KInborn genetic diseasesUncertain significance
(Dec 7, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr11:47603984
GRCh38:
Chr11:47582432
NDUFS3Mitochondrial complex 1 deficiency, nuclear type 8, Mitochondrial complex I deficiency, nuclear type 1, not specified,
not provided, Leigh syndrome
Conflicting interpretations of pathogenicity
(May 1, 2023)
criteria provided, conflicting interpretations
92.
GRCh37:
Chr11:47603988
GRCh38:
Chr11:47582436
NDUFS3R199WMitochondrial complex 1 deficiency, nuclear type 8Likely pathogenic
(Jan 23, 2019)
criteria provided, single submitter
93.
GRCh37:
Chr11:47603989
GRCh38:
Chr11:47582437
NDUFS3R199QMitochondrial complex I deficiency, not providedUncertain significance
(Jul 30, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr11:47604014
GRCh38:
Chr11:47582462
NDUFS3not providedLikely benign
(Aug 15, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr11:47604022
GRCh38:
Chr11:47582470
NDUFS3not providedUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr11:47604025
GRCh38:
Chr11:47582473
NDUFS3not providedUncertain significance
(May 28, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr11:47605837-47605838
GRCh38:
Chr11:47584285-47584286
NDUFS3not providedLikely benign
(Oct 16, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr11:47605859
GRCh38:
Chr11:47584307
NDUFS3Mitochondrial complex 1 deficiency, nuclear type 8, Mitochondrial complex I deficiency, nuclear type 1, not specified,
not provided, Leigh syndrome
Conflicting interpretations of pathogenicity
(Sep 21, 2022)
criteria provided, conflicting interpretations
99.
GRCh37:
Chr11:47605869
GRCh38:
Chr11:47584317
NDUFS3R211Cnot providedUncertain significance
(Mar 23, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr11:47605878
GRCh38:
Chr11:47584326
NDUFS3D214Nnot providedUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
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