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Items: 1 to 100 of 106

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:
Chr11:47765455-48664555
GRCh38:
Chr11:47743903-48643003
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr11:48002529-48002530
GRCh38:
Chr11:47980977-47980978
LOC130005691, PTPRJPTPRJ-related conditionUncertain significance
(Jul 2, 2023)
criteria provided, single submitter
7.
GRCh37:
Chr11:48002549
GRCh38:
Chr11:47980997
LOC130005691, PTPRJR29CInborn genetic diseasesUncertain significance
(Oct 4, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr11:48014539-49157287
GRCh38:
Chr11:47992987-49135735
See casesUncertain significance
(May 14, 2012)
no assertion criteria provided
9.
GRCh37:
Chr11:48014539-48783113
GRCh38:
Chr11:47992987-48761561
See casesconflicting data from submitters
(Mar 12, 2012)
no assertion criteria provided
10.
GRCh37:
Chr11:48088580-48783113
GRCh38:
Chr11:48067028-48761561
MIR3161, OR4A47, OR4B1, OR4C3, OR4C5, OR4S1, OR4X1, OR4X2, PTPRJSee casesconflicting data from submitters
(Aug 27, 2012)
no assertion criteria provided
11.
GRCh37:
Chr11:48131608
GRCh38:
Chr11:48110056
PTPRJThrombocytopenia 10Pathogenic
(Aug 28, 2023)
no assertion criteria provided
12.
GRCh37:
Chr11:48131613
GRCh38:
Chr11:48110061
PTPRJnot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
13.
GRCh37:
Chr11:48131678-48645461
GRCh38:
Chr11:48110126-48623909
OR4A47, OR4B1, OR4C3, OR4C5, OR4S1, OR4X1, OR4X2, PTPRJSee casesLikely benign
(Apr 30, 2011)
no assertion criteria provided
14.
GRCh37:
Chr11:48134313
GRCh38:
Chr11:48112761
PTPRJP44TInborn genetic diseasesUncertain significance
(Sep 14, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr11:48134355
GRCh38:
Chr11:48112803
PTPRJI58LPTPRJ-related conditionUncertain significance
(Nov 19, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr11:48134386
GRCh38:
Chr11:48112834
PTPRJF68CInborn genetic diseasesUncertain significance
(May 17, 2023)
criteria provided, single submitter
17.
GRCh37:
Chr11:48134463
GRCh38:
Chr11:48112911
PTPRJD94NInborn genetic diseasesUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr11:48134465
GRCh38:
Chr11:48112913
PTPRJnot providedLikely benign
(Aug 1, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr11:48142649
GRCh38:
Chr11:48121097
PTPRJnot providedLikely benign
(May 1, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr11:48142665
GRCh38:
Chr11:48121113
PTPRJH155YPTPRJ-related conditionUncertain significance
(Aug 16, 2023)
criteria provided, single submitter
21.
GRCh37:
Chr11:48142777
GRCh38:
Chr11:48121225
PTPRJN192Snot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
22.
GRCh37:
Chr11:48145168
GRCh38:
Chr11:48123616
PTPRJP207LInborn genetic diseasesUncertain significance
(Apr 25, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr11:48145188
GRCh38:
Chr11:48123636
PTPRJR214CCarcinoma of colonPathogenic
(Jul 1, 2002)
no assertion criteria provided
24.
GRCh37:
Chr11:48145263
GRCh38:
Chr11:48123711
PTPRJL239FInborn genetic diseasesUncertain significance
(Dec 20, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr11:48145327
GRCh38:
Chr11:48123775
PTPRJS260LInborn genetic diseasesUncertain significance
(Feb 15, 2023)
criteria provided, single submitter
26.
GRCh37:
Chr11:48145363
GRCh38:
Chr11:48123811
PTPRJP272LInborn genetic diseasesLikely benign
(Jun 6, 2023)
criteria provided, single submitter
27.
GRCh37:
Chr11:48145375
GRCh38:
Chr11:48123823
PTPRJQ276PColorectal cancer, not specifiedBenign
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr11:48145391
GRCh38:
Chr11:48123839
PTPRJK281NInborn genetic diseasesUncertain significance
(Jun 21, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr11:48146522
GRCh38:
Chr11:48124970
PTPRJA293Tnot providedBenign
(Apr 19, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr11:48146651
GRCh38:
Chr11:48125099
PTPRJE336QInborn genetic diseasesUncertain significance
(Aug 2, 2023)
criteria provided, single submitter
31.
GRCh37:
Chr11:48146712
GRCh38:
Chr11:48125160
PTPRJQ356Rnot providedUncertain significance
(May 4, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr11:48146718
GRCh38:
Chr11:48125166
PTPRJQ358RInborn genetic diseasesUncertain significance
(Nov 17, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr11:48146726
GRCh38:
Chr11:48125174
PTPRJE361KInborn genetic diseasesUncertain significance
(Apr 5, 2023)
criteria provided, single submitter
34.
GRCh37:
Chr11:48149490
GRCh38:
Chr11:48127938
PTPRJR418CInborn genetic diseasesUncertain significance
(Dec 3, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr11:48149491
GRCh38:
Chr11:48127939
PTPRJR418Hnot provided, not specifiedLikely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr11:48149505
GRCh38:
Chr11:48127953
PTPRJG423RInborn genetic diseasesUncertain significance
(May 25, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr11:48149511
GRCh38:
Chr11:48127959
PTPRJR425CInborn genetic diseasesUncertain significance
(Jan 18, 2023)
criteria provided, single submitter
38.
GRCh37:
Chr11:48149590
GRCh38:
Chr11:48128038
PTPRJH451Rnot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
39.
GRCh37:
Chr11:48152019
GRCh38:
Chr11:48130467
PTPRJP456AInborn genetic diseasesUncertain significance
(Feb 6, 2023)
criteria provided, single submitter
40.
GRCh37:
Chr11:48152064
GRCh38:
Chr11:48130512
PTPRJG471Snot providedLikely benign
(Apr 19, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr11:48152117
GRCh38:
Chr11:48130565
PTPRJQ488HInborn genetic diseasesUncertain significance
(May 18, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr11:48152245
GRCh38:
Chr11:48130693
PTPRJS531FInborn genetic diseasesUncertain significance
(Jun 13, 2023)
criteria provided, single submitter
43.
GRCh37:
Chr11:48152259
GRCh38:
Chr11:48130707
PTPRJN536DInborn genetic diseasesUncertain significance
(Jun 21, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr11:48157596
GRCh38:
Chr11:48136044
PTPRJS541Cnot specifiedUncertain significance
(Sep 28, 2022)
no assertion criteria provided
45.
GRCh37:
Chr11:48158554
GRCh38:
Chr11:48137002
PTPRJThrombocytopenia 10Pathogenic
(Aug 28, 2023)
no assertion criteria provided
46.
GRCh37:
Chr11:48158576
GRCh38:
Chr11:48137024
PTPRJI632TInborn genetic diseasesUncertain significance
(Aug 15, 2023)
criteria provided, single submitter
47.
GRCh37:
Chr11:48158586
GRCh38:
Chr11:48137034
PTPRJS635Rnot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
48.
GRCh37:
Chr11:48158677
GRCh38:
Chr11:48137125
PTPRJN666DPTPRJ-related conditionUncertain significance
(Dec 9, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr11:48161049
GRCh38:
Chr11:48139497
PTPRJM722VInborn genetic diseasesLikely benign
(May 31, 2023)
criteria provided, single submitter
50.
GRCh37:
Chr11:48161067
GRCh38:
Chr11:48139515
PTPRJE728Knot specifiedUncertain significance
(May 19, 2020)
criteria provided, single submitter
51.
GRCh37:
Chr11:48161116
GRCh38:
Chr11:48139564
PTPRJP744RInborn genetic diseasesUncertain significance
(Apr 25, 2023)
criteria provided, single submitter
52.
GRCh37:
Chr11:48161170
GRCh38:
Chr11:48139618
PTPRJA762VInborn genetic diseasesLikely benign
(May 31, 2023)
criteria provided, single submitter
53.
GRCh37:
Chr11:48161185
GRCh38:
Chr11:48139633
PTPRJS767NInborn genetic diseasesUncertain significance
(Mar 31, 2023)
criteria provided, single submitter
54.
GRCh37:
Chr11:48161203
GRCh38:
Chr11:48139651
PTPRJG773Dnot providedUncertain significance
(May 4, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr11:48164464
GRCh38:
Chr11:48142912
PTPRJnot providedLikely benign
(Apr 30, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr11:48164518
GRCh38:
Chr11:48142966
PTPRJN831HInborn genetic diseasesUncertain significance
(Jul 9, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr11:48164570
GRCh38:
Chr11:48143018
PTPRJK848IInborn genetic diseasesUncertain significance
(Jun 6, 2023)
criteria provided, single submitter
58.
GRCh37:
Chr11:48166260
GRCh38:
Chr11:48144708
PTPRJT870MInborn genetic diseasesUncertain significance
(Oct 25, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr11:48166331
GRCh38:
Chr11:48144779
PTPRJR894CInborn genetic diseasesUncertain significance
(Oct 12, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr11:48166641
GRCh38:
Chr11:48145089
PTPRJR959Hnot providedLikely benignno assertion criteria provided
61.
GRCh37:
Chr11:48168482
GRCh38:
Chr11:48146930
PTPRJT989SInborn genetic diseasesUncertain significance
(Sep 13, 2023)
criteria provided, single submitter
62.
GRCh37:
Chr11:48171006
GRCh38:
Chr11:48149454
PTPRJA1003Tnot providedUncertain significance
(May 4, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr11:48171536
GRCh38:
Chr11:48149984
PTPRJnot providedBenign
(Apr 30, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr11:48171696
GRCh38:
Chr11:48150144
PTPRJQ1033HInborn genetic diseasesUncertain significance
(Dec 16, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr11:48177377
GRCh38:
Chr11:48155825
PTPRJS1085LInborn genetic diseasesUncertain significance
(Jan 23, 2023)
criteria provided, single submitter
66.
GRCh37:
Chr11:48177606
GRCh38:
Chr11:48156054
PTPRJR1125Cnot providedUncertain significanceno assertion criteria provided
67.
GRCh37:
Chr11:48181524
GRCh38:
Chr11:48159972
PTPRJY1161Dnot providedUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr11:48181545
GRCh38:
Chr11:48159993
PTPRJM1168Vnot specifiedUncertain significance
(Sep 6, 2022)
no assertion criteria provided
69.
GRCh37:
Chr11:48181558
GRCh38:
Chr11:48160006
PTPRJI1172TInborn genetic diseasesUncertain significance
(Sep 26, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr11:48185125
GRCh38:
Chr11:48163573
PTPRJY1225CInborn genetic diseasesUncertain significance
(Feb 22, 2023)
criteria provided, single submitter
71.
GRCh37:
Chr11:48185149
GRCh38:
Chr11:48163597
PTPRJS1233LInborn genetic diseasesUncertain significance
(Dec 19, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr11:48185155
GRCh38:
Chr11:48163603
PTPRJI1235Tnot providedBenign
(Apr 19, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr11:48188756
GRCh38:
Chr11:48167204
PTPRJD1286HInborn genetic diseasesUncertain significance
(Jun 5, 2023)
criteria provided, single submitter
74.
GRCh37:
Chr11:48188843
GRCh38:
Chr11:48167291
PTPRJT1315AInborn genetic diseasesUncertain significance
(Oct 12, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr11:48188908
GRCh38:
Chr11:48167356
PTPRJnot providedBenign
(Oct 13, 2017)
criteria provided, single submitter
76.
GRCh37:
Chr11:48136888-48373316
OR4B1, OR4C3, OR4S1, OR4X1, OR4X2, PTPRJnot providedUncertain significance
(Aug 6, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr11:48144224-48640722
OR4A47, OR4B1, OR4C3, OR4S1, OR4X1, OR4X2, PTPRJnot providedUncertain significance
(Jun 10, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr11:43607886-61466671
ACCS, ACCSL, ACP2, AGBL2, ALKBH3, ALX4, AMBRA1, APLNR, ARFGAP2, ARHGAP1, ATG13, BTBD18, C11orf96, C1QTNF4, CBLIF, CCDC86, CD5, CD6, CD82, CELF1, CHRM4, CHST1, CKAP5, CLP1, CNTF, CPSF7, CREB3L1, CRY2, CSTPP1, CTNND1, CYB561A3, DAGLA, DDB1, DDB2, DGKZ, DTX4, EXT2, F2, FAM111A, FAM111B, FAM180B, FNBP4, FOLH1, FREY1, GLYAT, GLYATL1, GLYATL2, HARBI1, HSD17B12, KBTBD4, LARGE2, LPXN, LRP4, LRRC10B, LRRC55, MADD, MADD-AS1, MAPK8IP1, MDK, MED19, MIR130A, MPEG1, MRPL16, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MTCH2, MYBPC3, NDUFS3, NR1H3, NUP160, OOSP2, OR10AG1, OR10Q1, OR10V1, OR10W1, OR1S1, OR1S2, OR4A15, OR4A16, OR4A47, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4C6, OR4D10, OR4D11, OR4D6, OR4D9, OR4P4, OR4S1, OR4S2, OR4X1, OR4X2, OR5A1, OR5A2, OR5AK2, OR5AN1, OR5AP2, OR5AR1, OR5AS1, OR5B12, OR5B17, OR5B2, OR5B21, OR5B3, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5I1, OR5J2, OR5L1, OR5L2, OR5M1, OR5M10, OR5M11, OR5M3, OR5M8, OR5M9, OR5T1, OR5T2, OR5T3, OR5W2, OR6Q1, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR8U3, OR9G1, OR9G4, OR9I1, OR9Q1, OR9Q2, OSBP, P2RX3, PACSIN3, PATL1, PEX16, PGA3, PGA4, PGA5, PHF21A, PPP1R32, PRDM11, PRG2, PRG3, PRPF19, PSMC3, PTGDR2, PTPMT1, PTPRJ, RAPSN, RTN4RL2, SDHAF2, SELENOH, SERPING1, SLC15A3, SLC35C1, SLC39A13, SLC43A1, SLC43A3, SMTNL1, SPI1, SSRP1, STX3, SYT13, SYT7, TCN1, TIMM10, TKFC, TMEM109, TMEM132A, TMEM138, TMEM216, TMX2, TNKS1BP1, TP53I11, TRIM48, TRIM49B, TRIM51, TRIM64C, TSPAN18, UBE2L6, VPS37C, VWCE, YPEL4, ZDHHC5, ZFP91, ZNF408, ZP1
See casesPathogenicno assertion criteria provided
79.
GRCh37:
Chr11:32799481-134938470
GRIA4, GRIK4, GRK2, GRM5, GSTP1, GUCY1A2, H2AX, HARBI1, HEPACAM, HEPHL1, HEPN1, HIKESHI, HINFP, HIPK3, HMBS, HNRNPUL2, HOATZ, HSD17B12, HSPA8, HSPB2, HTR3A, HTR3B, HYLS1, HYOU1, IFT46, IFTAP, IGHMBP2, IGSF9B, IL10RA, IL18, IL18BP, INCENP, INPPL1, INTS4, INTS5, IZUMO1R, JAM3, JAML, JHY, JRKL, KAT5, KBTBD3, KBTBD4, KCNE3, KCNJ1, KCNJ5, KCNJ5-AS1, KCNK4, KCNK7, KCTD14, KCTD21, KDM2A, KDM4D, KDM4E, KIAA1549L, KIRREL3, KLC2, KLHL35, KMT2A, KMT5B, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LARGE2, LAYN, LBHD1, LDLRAD3, LGALS12, LINC00294, LINC02714, LINC02743, LINC02873, LIPT2, LMO2, LOC100128088, LOC100132686, LOC101929473, LPXN, LRFN4, LRP4, LRP5, LRRC10B, LRRC32, LRRC4C, LRRC55, LRRN4CL, LRTOMT, LTBP3, LTO1, MACROD1, MADD, MADD-AS1, MAJIN, MALAT1, MAML2, MAP3K11, MAP4K2, MAP6, MAPK8IP1, MARK2, MCAM, MDK, ME3, MED17, MED19, MEN1, MFRP, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR326, MIR34B, MIR34BHG, MIR34C, MIRLET7A2, MMP1, MMP10, MMP12, MMP13, MMP20, MMP27, MMP3, MMP7, MMP8, MOGAT2, MPEG1, MPZL2, MPZL3, MRE11, MRGPRD, MRGPRF, MRPL11, MRPL16, MRPL21, MRPL48, MRPL49, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MSANTD2, MSANTD4, MTA2, MTCH2, MTMR2, MTNR1B, MUS81, MYBPC3, MYEOV, MYO7A, MYRF, NAA40, NAALAD2, NAALADL1, NADSYN1, NARS2, NAT10, NCAM1, NCAPD3, NDUFC2, NDUFC2-KCTD14, NDUFS3, NDUFS8, NDUFV1, NDUFV1-DT, NEAT1, NECTIN1, NEU3, NFRKB, NHERF4, NKAPD1, NLRX1, NNMT, NOX4, NPAS4, NPAT, NR1H3, NRGN, NRXN2, NTM, NUDT22, NUDT8, NUMA1, NUP160, NXF1, NXPE1, NXPE2, NXPE4, OAF, OMP, OOSP2, OPCML, OR10AG1, OR10G4, OR10G7, OR10G8, OR10G9, OR10Q1, OR10S1, OR10V1, OR10W1, OR1S1, OR1S2, OR2AT4, OR4A15, OR4A16, OR4A47, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4C6, OR4D10, OR4D11, OR4D5, OR4D6, OR4D9, OR4P4, OR4S1, OR4S2, OR4X1, OR4X2, OR5A1, OR5A2, OR5AK2, OR5AN1, OR5AP2, OR5AR1, OR5AS1, OR5B12, OR5B17, OR5B2, OR5B21, OR5B3, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5I1, OR5J2, OR5L1, OR5L2, OR5M1, OR5M10, OR5M11, OR5M3, OR5M8, OR5M9, OR5T1, OR5T2, OR5T3, OR5W2, OR6M1, OR6Q1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G5, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR8U3, OR9G1, OR9G4, OR9I1, OR9Q1, OR9Q2, OSBP, OTUB1, OVOL1, P2RX3, P2RY2, P2RY6, P4HA3, PAAF1, PACS1, PACSIN3, PAFAH1B2, PAK1, PAMR1, PANX1, PANX3, PATE1, PATE2, PATE3, PATE4, PATL1, PC, PCF11, PCNX3, PCSK7, PDE2A, PDGFD, PDHX, PELI3, PEX16, PGA3, PGA4, PGA5, PGM2L1, PGR, PHF21A, PHLDB1, PHOX2A, PICALM, PIH1D2, PITPNM1, PIWIL4, PKNOX2, PLAAT2, PLAAT3, PLAAT4, PLAAT5, PLCB3, PLEKHB1, PLET1, POGLUT3, POLA2, POLD3, POLD4, POLR2G, POU2AF1, POU2AF2, POU2AF3, POU2F3, PPFIA1, PPME1, PPP1CA, PPP1R14B, PPP1R32, PPP2R1B, PPP2R5B, PPP6R3, PRCP, PRDM10, PRDM11, PRDX5, PRG2, PRG3, PRPF19, PRR5L, PRRG4, PRSS23, PSMC3, PTGDR2, PTPMT1, PTPRCAP, PTPRJ, PTS, PUS3, PYGM, QSER1, RAB1B, RAB30, RAB38, RAB39A, RAB3IL1, RAB6A, RAD9A, RAG1, RAG2, RAPSN, RASGRP2, RBM14, RBM14-RBM4, RBM4, RBM4B, RBM7, RCE1, RCOR2, RDX, RELA, RELT, REXO2, RHOD, RIN1, RNASEH2C, RNF121, RNF169, RNF214, RNF26, ROBO3, ROBO4, ROM1, RPS25, RPS3, RPS6KA4, RPS6KB2, RPUSD4, RSF1, RTN3, RTN4RL2, SAC3D1, SART1, SC5D, SCGB1A1, SCGB1D1, SCGB1D2, SCGB1D4, SCGB2A1, SCGB2A2, SCN2B, SCN3B, SCN4B, SCYL1, SESN3, SDHAF2, SDHD, SELENOH, SERPING1, SERPINH1, SF1, SF3B2, SHANK2, SIAE, SIDT2, SIK2, SIK3, SIPA1, SLC15A3, SLC1A2, SLC22A10, SLC22A11, SLC22A12, SLC22A24, SLC22A25, SLC22A6, SLC22A8, SLC22A9, SLC25A45, SLC29A2, SLC35C1, SLC35F2, SLC36A4, SLC37A2, SLC37A4, SLC39A13, SLC3A2, SLC43A1, SLC43A3, SLCO2B1, SLN, SMCO4, SMTNL1, SNHG1, SNORD15A, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, SNX15, SNX19, SNX32, SORL1, SPA17, SPATA19, SPCS2, SPDYC, SPI1, SPINDOC, SPTBN2, SRPRA, SRSF8, SSH3, SSRP1, ST14, ST3GAL4, STARD10, STIP1, STT3A, STX3, STX5, SYT12, SYT13, SYT7, AAMDC, AASDHPPT, ABCG4, ABTB2, ACAD8, ACAT1, ACCS, ACCSL, ACER3, ACP2, ACRV1, ACTN3, ACY3, ADAMTS15, ADAMTS8, AGBL2, AHNAK, AIP, ALDH3B1, ALDH3B2, ALG8, ALG9, ALKBH3, ALKBH8, ALX4, AMBRA1, AMOTL1, ANAPC15, ANGPTL5, ANKK1, ANKRD13D, ANKRD42, ANKRD49, ANO1, AP5B1, API5, APIP, APLNR, APLP2, APOA1, APOA4, APOA5, APOC3, AQP11, ARAP1, ARAP1-AS2, ARCN1, ARFGAP2, ARHGAP1, ARHGAP20, ARHGAP32, ARHGAP42, ARHGEF12, ARHGEF17, ARHGEF17-AS1, ARL2, ARRB1, ASRGL1, ATG13, ATG16L2, ATG2A, ATL3, ATM, ATP5MG, B3GAT1, B3GAT3, B3GNT6, B4GAT1, BACE1, BACE1-AS, BAD, BANF1, BARX2, BATF2, BBS1, BCL9L, BCO2, BEST1, BIRC2, BIRC3, BLID, BRMS1, BSCL2, BSX, BTBD18, BTG4, BUD13, C11orf24, C11orf52, C11orf54, C11orf65, C11orf68, C11orf71, C11orf80, C11orf86, C11orf87, C11orf91, C11orf96, C1QTNF4, C1QTNF5, C2CD2L, C2CD3, CABP2, CABP4, CADM1, CAPN1, CAPN5, CAPRIN1, CARD16, CARD17, CARD18, CARNS1, CASP1, CASP12, CASP4, CASP5, CAT, CATSPER1, CATSPERZ, CBL, CBLIF, CCDC15, CCDC153, CCDC81, CCDC82, CCDC83, CCDC85B, CCDC86, CCDC87, CCDC88B, CCDC89, CCDC90B, CCND1, CCS, CD248, CD3D, CD3E, CD3G, CD44, CD5, CD59, CD6, CD82, CDC42BPG, CDC42EP2, CDCA5, CDK2AP2, CDON, CELF1, CENATAC, CEP126, CEP164, CEP295, CEP57, CFAP300, CFAP68, CFL1, CHEK1, CHKA, CHORDC1, CHRDL2, CHRM1, CHRM4, CHST1, CKAP5, CLCF1, CLDN25, CLMP, CLNS1A, CLP1, CLPB, CNIH2, CNTF, CNTN5, COA4, COMMD9, CORO1B, COX8A, CPSF7, CPT1A, CREB3L1, CREBZF, CRTAM, CRY2, CRYAB, CSKMT, CST6, CSTF3, CSTPP1, CTNND1, CTSC, CTSF, CTSW, CTTN, CUL5, CWC15, CWF19L2, CXCR5, CYB561A3, DAGLA, DCPS, DCUN1D5, DDB1, DDB2, DDI1, DDIAS, DDX10, DDX25, DDX6, DEFB108B, DEPDC7, DEUP1, DGAT2, DGKZ, DHCR7, DIXDC1, DLAT, DLG2, DNAJB13, DNAJC4, DPAGT1, DPF2, DPP3, DRAP1, DRD2, DSCAML1, DTX4, DYNC2H1, EED, EEF1G, EFEMP2, EHBP1L1, EHD1, EHF, EI24, EIF1AD, ELF5, ELMOD1, EML3, EMSY, ENDOD1, ESAM, ESRRA, ETS1, EXPH5, EXT2, F2, FADD, FADS1, FADS2, FADS3, FAM111A, FAM111B, FAM118B, FAM168A, FAM180B, FAM181B, FAM76B, FAM86C1P, FAM89B, FAT3, FAU, FBXO3, FCHSD2, FDX1, FDXACB1, FEN1, FERMT3, FEZ1, FGF19, FGF3, FGF4, FIBP, FJX1, FKBP2, FLI1, FLRT1, FNBP4, FOLH1, FOLH1B, FOLR1, FOLR2, FOLR3, FOSL1, FOXR1, FOXRED1, FREY1, FRMD8, FTH1, FUT4, FXYD2, FXYD6, FXYD6-FXYD2, FZD4, GAB2, GAL, GAL3ST3, GANAB, GDPD4, GDPD5, GLB1L2, GLB1L3, GLYAT, GLYATL1, GLYATL2, GNG3, GPHA2, GPR137, GPR152, GPR83, GRAMD1B, SYTL2, SYVN1, TAF1D, TAF6L, TAGLN, TBC1D10C, TBCEL, TBRG1, TBX10, TCIRG1, TCN1, TCP11L1, TECTA, TENM4, TESMIN, TEX12, THAP12, THRSP, THY1, THYN1, TIGD3, TIMM10, TIMM8B, TIRAP, TKFC, TLCD5, TM7SF2, TMEM109, TMEM123, TMEM126A, TMEM126B, TMEM132A, TMEM133, TMEM134, TMEM135, TMEM138, TMEM151A, TMEM179B, TMEM216, TMEM218, TMEM223, TMEM225, TMEM25, TMEM258, TMEM45B, TMPRSS13, TMPRSS4, TMPRSS5, TMX2, TNKS1BP1, TP53AIP1, TP53I11, TPBGL, TPCN2, TRAF6, TRAPPC4, TREH, TRIM29, TRIM44, TRIM48, TRIM49, TRIM49B, TRIM49C, TRIM49D1, TRIM49D2, TRIM51, TRIM64, TRIM64B, TRIM64C, TRIM77, TRMT112, TRPC6, TRPT1, TSGA10IP, TSKU, TSPAN18, TTC12, TTC17, TTC36, TTC9C, TUT1, TYR, UBASH3B, UBE2L6, UBE4A, UBTFL1, UBXN1, UCP2, UCP3, UNC93B1, UPK2, UQCC3, USP2, USP28, USP35, UVRAG, VEGFB, VPS11, VPS26B, VPS37C, VPS51, VSIG2, VSTM5, VWA5A, VWCE, WDR74, WNT11, XRRA1, YAP1, YIF1A, YPEL4, ZBTB16, ZBTB3, ZBTB44, ZC3H12C, ZDHHC24, ZDHHC5, ZFP91, ZFPL1, ZFTA, ZNF202, ZNF408, ZNF705E, ZNHIT2, ZNRD2, ZP1, ZPR1, ZW10
MISSED ABORTIONPathogenicno assertion criteria provided
80.
GRCh37:
Chr11:47711244-48976284
AGBL2, FNBP4, NUP160, OR4A47, OR4B1, OR4C3, OR4S1, OR4X1, OR4X2, PTPRJnot specifiedUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr11:48072297-48658135
OR4A47, OR4B1, OR4C3, OR4S1, OR4X1, OR4X2, PTPRJnot providedUncertain significance
(May 1, 2021)
no assertion criteria provided
82.
GRCh37:
Chr11:11835569-118373112
APOA1, APOA4, CAPRIN1, CARD16, CNIH2, CNTF, APOA5, APOC3, CARD17, CNTN5, COA4, F2, FADD, HOATZ, MAP6, MAPK8IP1, MARK2, NAALADL1, NADSYN1, NARS2, OR5AS1, PGA4, RASSF10, RBM14, RBM14-RBM4, RBM4, RBM4B, RBM7, RCE1, RCN1, RCOR2, RDX, RELA, RELT, REXO2, RHOD, RIN1, RNASEH2C, RNF121, RNF169, RNF214, ROM1, PGA5, PLAAT2, PGM2L1, PGR, PHF21A, PHOX2A, PICALM, PIH1D2, PIK3C2A, PITPNM1, PIWIL4, OR5B12, OR5B17, OR5B2, OR5B3, OR5D16, OR5D18, OR5B21, OR5D13, OR5D14, OR5F1, OR5I1, OR5J2, NAT10, NAV2, NDUFV1, NDUFV1-DT, NDUFS3, NEAT1, NELL1, NCAM1, NCR3LG1, NDUFC2, NDUFC2-KCTD14, NDUFS8, MIR34B, MIR610, MMP1, MMP10, MED17, MED19, MIR34BHG, MIR34C, MDK, ME3, MIR192, MIR194-2, MIR326, HTATIP2, HTR3A, HTR3B, IL18BP, IMMP1L, IFTAP, IGHMBP2, IGSF22, IL10RA, IL18, INCENP, INPPL1, INSC, HPS5, HSD17B12, HSPB2, FAM86C1P, FAM89B, FANCF, FAR1, FCHSD2, FAT3, FAU, FBXO3, FADS1, FADS2, FADS3, FAM111A, FAM111B, FAM168A, FAM180B, FAM181B, FAM76B, CRY2, CRYAB, CSKMT, CSRP3, COX8A, CREB3L1, CREBZF, COPB1, COMMD9, CORO1B, CPSF7, CPT1A, CATSPER1, CARNS1, CASP12, CASP4, CARD18, CATSPERZ, CASP1, CASP5, CAT, ARFGAP2, ARHGAP1, ARAP1, ARAP1-AS2, ARHGEF17-AS1, ARL14EP, AQP11, ARL2, ARHGAP20, ARHGAP42, ARHGEF17, ASRGL1, ATG13, ARRB1, AAMDC, AASDHPPT, ABCC8, ABTB2, ACAT1, ACCS, ACCSL, ACER3, ACP2, ACTN3, ACY3, AGBL2, AHNAK, AIP, ALDH3B1, ALDH3B2, ALG8, ALG9, ALKBH3, ALKBH8, ALX4, AMBRA1, AMOTL1, ANAPC15, ANGPTL5, ANKK1, ANKRD13D, ANKRD42, ANKRD49, ANO1, ANO3, ANO5, AP5B1, API5, APIP, APLNR, ATG16L2, ATG2A, ATL3, ATM, ATP5MG, B3GAT3, B3GNT6, B4GAT1, BACE1, BACE1-AS, BAD, BANF1, BATF2, BBOX1, BBS1, BCO2, BDNF, BDNF-AS, BEST1, BIRC2, BIRC3, BMAL1, BRMS1, BSCL2, BTBD10, BTBD18, BTG4, BUD13, C11orf24, C11orf52, C11orf54, C11orf58, C11orf65, C11orf68, C11orf71, C11orf86, C11orf87, C11orf91, C11orf96, C1QTNF4, C2CD3, CABP2, CABP4, CADM1, CALCA, CALCB, CAPN1, CAPN5, CBLIF, CCDC179, CCDC34, CCDC73, CCDC81, CCDC82, CCDC83, CCDC85B, CCDC86, CCDC87, CCDC88B, CCDC89, CCDC90B, CCND1, CCS, CD248, CD3D, CD3E, CD3G, CD44, CD5, CD59, CD6, CD82, CDC42BPG, CDC42EP2, CDCA5, CDK2AP2, CELF1, CEP126, CEP164, CEP295, CEP57, CFAP300, CFAP68, CFL1, CHKA, CHORDC1, CHRDL2, CHRM1, CHRM4, CHST1, CKAP5, CLCF1, CLDN25, CLNS1A, CLP1, CLPB, CST6, CSTF3, CSTPP1, CTNND1, CTSC, CTSF, CTSW, CTTN, CUL5, CWC15, CWF19L2, CYB561A3, CYP2R1, DAGLA, DBX1, DCDC1, DCUN1D5, DDB1, DDB2, DDI1, DDIAS, DDX10, DEFB108B, DEPDC7, DEUP1, DGAT2, DGKZ, DHCR7, DIXDC1, DKK3, DLAT, DLG2, DNAJB13, DNAJC24, DNAJC4, DPF2, DPP3, DRAP1, DRD2, DSCAML1, DTX4, DYNC2H1, E2F8, EED, EEF1G, EFEMP2, EHBP1L1, EHD1, EHF, EIF1AD, EIF3M, ELF5, ELMOD1, ELP4, EML3, EMSY, ENDOD1, ESRRA, EXPH5, EXT2, FDX1, FDXACB1, FEN1, FERMT3, FGF19, FGF3, FGF4, FIBIN, FIBP, FJX1, FKBP2, FLRT1, FNBP4, FOLH1, FOLH1B, FOLR1, FOLR2, FOLR3, FOSL1, FREY1, FRMD8, FSHB, FTH1, FUT4, FXYD2, FXYD6, FXYD6-FXYD2, FZD4, GAB2, GAL, GAL3ST3, GANAB, GAS2, GDPD4, GDPD5, GLYAT, GLYATL1, GLYATL2, GNG3, GPHA2, GPR137, GPR152, GPR83, GRIA4, GRK2, GRM5, GSTP1, GTF2H1, GUCY1A2, HARBI1, HEPHL1, HIKESHI, HIPK3, HNRNPUL2, INTS4, INTS5, IZUMO1R, JAML, JRKL, KAT5, KBTBD3, KBTBD4, KCNA4, KCNC1, KCNE3, KCNJ11, KCNK4, KCNK7, KCTD14, KCTD21, KDM2A, KDM4D, KDM4E, KIAA1549L, KIF18A, KLC2, KLHL35, KMT2A, KMT5B, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LARGE2, LAYN, LBHD1, LDHA, LDHAL6A, LDHC, LDLRAD3, LGALS12, LGR4, LIN7C, LINC00294, LIPT2, LMO2, LOC100132686, LPXN, LRFN4, LRP4, LRP5, LRRC10B, LRRC32, LRRC4C, LRRC55, LRRN4CL, LRTOMT, LTBP3, LTO1, LUZP2, MACROD1, MADD, MADD-AS1, MAJIN, MALAT1, MAML2, MAP3K11, MAP4K2, MEN1, METTL15, MICAL2, MICALCL, MIR130A, MIR139, MMP12, MMP13, MMP20, MMP27, MMP3, MMP7, MMP8, MOGAT2, MPEG1, MPPED2, MPZL2, MPZL3, MRE11, MRGPRD, MRGPRF, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MRPL11, MRPL16, MRPL21, MRPL48, MRPL49, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MSANTD4, MTA2, MTCH2, MTMR2, MTNR1B, MUC15, MUS81, NAALAD2, MYBPC3, MYEOV, MYO7A, MYOD1, MYRF, NAA40, NEU3, NKAPD1, NNMT, NOX4, NPAS4, NPAT, NR1H3, NRXN2, NUCB2, NUDT22, NUDT8, NUMA1, NUP160, NXF1, NXPE1, NXPE2, NXPE4, OMP, OOSP2, OR10AG1, OR10Q1, OR10V1, OR10W1, OR1S1, OR1S2, OR2AT4, OR4A15, OR4A16, OR4A47, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4C6, OR4D10, OR4D11, OR4D6, OR4D9, OR4P4, OR4S1, OR4S2, OR4X1, OR4X2, OR5A1, OR5A2, OR5AK2, OR5AN1, OR5AP2, OR5AR1, OR5L1, OR5L2, OR5M1, OR5M10, OR5M11, OR5M3, OR5M8, OR5M9, OR5T1, OR5T2, OR5T3, OR5W2, OR6Q1, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR8U3, OR9G1, OR9G4, OR9I1, OR9Q1, OR9Q2, OSBP, OTOG, OTUB1, OVOL1, P2RX3, P2RY2, P2RY6, P4HA3, PAAF1, PACS1, PACSIN3, PAFAH1B2, PAK1, PAMR1, PANX1, PARVA, PATL1, PAX6, PC, PCF11, PCNX3, PCSK7, PDE2A, PDE3B, PDGFD, PDHX, PELI3, PEX16, PGA3, PLAAT3, PLAAT4, PLAAT5, PLCB3, PLEKHA7, PLEKHB1, PLET1, POGLUT3, POLA2, POLD3, POLD4, POLR2G, POU2AF1, POU2AF2, POU2AF3, PPFIA1, PPME1, PPP1CA, PPP1R14B, PPP2R1B, PPP2R5B, PPP6R3, PRCP, PRDM11, PRDX5, PRG2, PRG3, PRMT3, PRPF19, PRR5L, PRRG4, PRSS23, PSMA1, PSMC3, PTGDR2, PTH, PTPMT1, PTPN5, PTPRCAP, PTPRJ, PTS, PYGM, QSER1, RAB1B, RAB30, RAB38, RAB39A, RAB3IL1, RAB6A, RAD9A, RAG1, RAG2, RAPSN, RASGRP2, RPS13, RPS3, RPS6KA4, RPS6KB2, RRAS2, RSF1, RTN3, RTN4RL2, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SAC3D1, SART1, SAXO4, SCGB1A1, SCGB1D1, SCGB1D2, SCGB1D4, SCGB2A1, SCGB2A2, SCN2B, SCN4B, SCYL1, SDHAF2, SDHD, SELENOH, SERGEF, SERPING1, SERPINH1, SESN3, SF1, SF3B2, SHANK2, SIDT2, SIK2, SIK3, SIPA1, SLC15A3, SLC22A24, SLC17A6, SLC1A2, SLC22A10, SLC22A11, SLC22A12, SLC22A25, SLC22A6, SLC22A8, SLC22A9, SLC25A45, SLC29A2, SLC35C1, SLC35F2, SLC36A4, SLC39A13, SLC3A2, SLC43A1, SLC43A3, SLC5A12, SLC6A5, SLCO2B1, SLN, SMCO4, SMTNL1, SNHG1, SNORD15A, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, SNX15, SNX32, SOX6, SPCS2, SPDYC, SPI1, SPINDOC, SPON1, SPTBN2, SPTY2D1, SRSF8, SSH3, SSRP1, STARD10, STIP1, STX3, STX5, SVIP, SYT12, SYT13, SYT7, SYTL2, SYVN1, TAF1D, TAF6L, TAGLN, TBC1D10C, TBX10, TCIRG1, TCN1, TCP11L1, TEAD1, TENM4, TESMIN, TEX12, THAP12, THRSP, TIGD3, TIMM10, TIMM8B, TKFC, TM7SF2, TMEM109, TMEM123, TMEM126A, TMEM126B, TMEM132A, TMEM133, TMEM134, TMEM135, TMEM138, TMEM151A, TMEM179B, TMEM216, TMEM223, TMEM258, TMEM86A, TMPRSS13, TMPRSS4, TMPRSS5, TMX2, TNKS1BP1, TOP6BL, TP53I11, TPBGL, TPCN2, TPH1, TRAF6, TRIM44, TRIM48, TRIM49, TRIM49B, TRIM49C, TRIM49D1, TRIM49D2, TRIM51, TRIM64, TRIM64B, TRIM64C, TRIM77, TRMT112, TRPC6, TRPT1, TSG101, TSGA10IP, TSKU, TSPAN18, TTC12, TTC17, TTC9C, TUT1, TYR, UBE2L6, UBE4A, UBTFL1, UBXN1, UCP2, UCP3, UEVLD, UNC93B1, UQCC3, USH1C, USP28, USP35, USP47, UVRAG, VEGFB, VPS37C, VPS51, VSTM5, VWCE, WDR74, WNT11, WT1, WT1-AS, XRRA1, YAP1, YIF1A, YPEL4, ZBTB16, ZBTB3, ZC3H12C, ZDHHC13, ZDHHC24, ZDHHC5, ZFP91, ZFPL1, ZFTA, ZNF408, ZNF705E, ZNHIT2, ZNRD2, ZP1, ZPR1, ZW10
Intellectual disabilityPathogenic
(Feb 25, 2021)
no assertion criteria provided
83.
GRCh37:
Chr11:47997461-48142707
PTPRJAortic valve stenosisUncertain significance
(Jul 18, 2019)
no assertion criteria provided
84.
GRCh37:
Chr11:47852329-48010053
NUP160, PTPRJnot providedUncertain significance
(Nov 13, 2018)
no assertion criteria provided
85.
GRCh37:
Chr11:48190777-48388657
OR4X2, PTPRJ, OR4X1, OR4C3, OR4B1, OR4S1not providedBenign
(Dec 28, 2011)
no assertion criteria provided
86.
GRCh37:
Chr11:48146522-48588985
OR4X2, OR4C3, OR4X1, PTPRJ, OR4B1, OR4A47, OR4S1not providedBenign
(Mar 29, 2012)
no assertion criteria provided
87.
GRCh37:
Chr11:48068399-48878863
OR4A47, PTPRJ, OR4X2, OR4B1, OR4S1, OR4X1, OR4C3not providedBenign
(Sep 29, 2016)
no assertion criteria provided
88.
GRCh37:
Chr11:48068399-48558249
PTPRJ, OR4X2, OR4B1, OR4S1, OR4X1, OR4C3, OR4A47not providedBenign
(May 26, 2015)
no assertion criteria provided
89.
GRCh37:
Chr11:47825128-48601837
NUP160, OR4B1, OR4S1, OR4C3, PTPRJ, OR4X2, OR4X1, OR4A47not providedBenign
(Mar 21, 2012)
no assertion criteria provided
90.
GRCh37:
Chr11:47760768-48518893
PTPRJ, OR4S1, OR4C3, OR4A47, OR4B1, NUP160, OR4X1, OR4X2, FNBP4not providedBenign
(Feb 9, 2016)
no assertion criteria provided
91.
GRCh37:
Chr11:70864-134938470
CHORDC1, CHRDL2, CHRM1, CHRM4, CHRNA10, CHST1, CIMAP1A, CKAP5, CLCF1, CLDN25, CLMP, CLNS1A, CLP1, CLPB, CNGA4, CNIH2, CNTF, CNTN5, COA4, COMMD9, COPB1, CORO1B, COX8A, CPSF7, CPT1A, CRACR2B, CREB3L1, CREBZF, CRTAM, CRY2, CRYAB, CSKMT, CSNK2A3, CSRP3, CST6, CSTF3, CSTPP1, CTNND1, CTR9, CTSC, CTSD, CTSF, CTSW, CTTN, CUL5, CWC15, CWF19L2, CXCR5, CYB561A3, CYB5R2, CYP2R1, DAGLA, DBX1, DCDC1, DCHS1, DCPS, DCUN1D5, DDB1, DDB2, DDI1, DDIAS, DDX10, DDX25, DDX6, DEAF1, DEFB108B, DENND2B, DENND5A, DEPDC7, DEUP1, DGAT2, DGKZ, DHCR7, DIXDC1, DKK3, DLAT, DLG2, DNAJB13, DNAJC24, DNAJC4, DNHD1, DPAGT1, DPF2, DPP3, DRAP1, DRD2, DRD4, DSCAML1, DTX4, DUSP8, DYNC2H1, E2F8, EED, EEF1G, EFEMP2, EHBP1L1, EHD1, EHF, EI24, EIF1AD, EIF3F, EIF3M, EIF4G2, ELF5, ELMOD1, ELP4, EML3, EMSY, ENDOD1, EPS8L2, ESAM, ESRRA, ETS1, EXPH5, EXT2, F2, FADD, FADS1, FADS2, FADS3, FAM111A, FAM111B, FAM118B, FAM168A, FAM180B, FAM181B, FAM76B, FAM86C1P, FAM89B, FANCF, FAR1, FAT3, FAU, FBXO3, FCHSD2, FDX1, FDXACB1, FEN1, FERMT3, FEZ1, FGF19, FGF3, FGF4, FHIP1B, FIBIN, FIBP, FJX1, FKBP2, FLI1, FLRT1, FNBP4, FOLH1, FOLH1B, FOLR1, FOLR2, FOLR3, FOSL1, FOXR1, FOXRED1, FREY1, FRMD8, FSHB, FTH1, FUT4, FXYD2, FXYD6, FXYD6-FXYD2, FZD4, GAB2, GAL, GAL3ST3, GALNT18, GANAB, GAS2, GATD1, GDPD4, GDPD5, GLB1L2, GLB1L3, GLYAT, GLYATL1, GLYATL2, GNG3, GPHA2, GPR137, GPR152, GPR83, GRAMD1B, GRIA4, GRIK4, GRK2, GRM5, GSTP1, GTF2H1, GUCY1A2, H19, H2AX, HARBI1, HBB, HBD, HBE1, HBG1, HBG2, HEPACAM, HEPHL1, HEPN1, HIKESHI, HINFP, HIPK3, HMBS, HNRNPUL2, HOATZ, HPS5, HPX, HRAS, HSD17B12, HSPA8, HSPB2, HTATIP2, HTR3A, HTR3B, HYLS1, HYOU1, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IFT46, IFTAP, IGF2, IGF2-AS, IGHMBP2, IGSF22, IGSF9B, IL10RA, IL18, IL18BP, ILK, IMMP1L, INCENP, INPPL1, INS, INS-IGF2, INSC, INTS4, INTS5, IPO7, IRAG1, IRF7, IZUMO1R, JAM3, JAML, JHY, JRKL, KAT5, KBTBD3, KBTBD4, KCNA4, KCNC1, KCNE3, KCNJ1, KCNJ11, KCNJ5, KCNJ5-AS1, KCNK4, KCNK7, KCNQ1, KCNQ1DN, KCNQ1OT1, KCTD14, KCTD21, KDM2A, KDM4D, KDM4E, KIAA1549L, KIF18A, KIRREL3, KLC2, KLHL35, KMT2A, KMT5B, KRTAP5-1, KRTAP5-10, KRTAP5-11, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LARGE2, LAYN, LBHD1, LDHA, LDHAL6A, LDHC, LDLRAD3, LGALS12, LGR4, LIN7C, LINC00294, LINC02714, LINC02743, LINC02873, LIPT2, LMNTD2, LMNTD2-AS1, LMO1, LMO2, LOC100132686, LOC101929473, LPXN, LRFN4, LRP4, LRP5, LRRC10B, LRRC32, LRRC4C, LRRC55, LRRC56, LRRN4CL, LRTOMT, LSP1, LTBP3, LTO1, LUZP2, LYVE1, MACROD1, MADD, MADD-AS1, MAJIN, MALAT1, MAML2, MAP3K11, MAP4K2, MAP6, MAPK8IP1, MARK2, MCAM, MDK, ME3, MED17, MED19, MEN1, METTL15, MFRP, MICAL2, MICALCL, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR210, MIR210HG, MIR326, MIR34B, MIR34BHG, MIR34C, MIR610, MIRLET7A2, MMP1, MMP10, MMP12, MMP13, MMP20, MMP26, MMP27, MMP3, MMP7, MMP8, MOB2, MOGAT2, MPEG1, MPPED2, MPZL2, MPZL3, MRE11, MRGPRD, MRGPRE, MRGPRF, MRGPRG, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MRPL11, MRPL16, MRPL17, MRPL21, MRPL23, MRPL48, MRPL49, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MSANTD2, MSANTD4, MTA2, MTCH2, MTMR2, MTNR1B, MTRNR2L8, MUC15, MUC2, MUC5AC, MUC5B, MUC6, MUS81, MYBPC3, MYEOV, MYO7A, MYOD1, MYRF, NAA40, NAALAD2, NAALADL1, NADSYN1, NAP1L4, NARS2, NAT10, NAV2, NCAM1, NCAPD3, NCR3LG1, NDUFC2, NDUFC2-KCTD14, NDUFS3, NDUFS8, NDUFV1, NDUFV1-DT, NEAT1, NECTIN1, NELL1, NEU3, NFRKB, NHERF4, NKAPD1, NLRP10, NLRP14, NLRP6, NLRX1, NNMT, NOX4, NPAS4, NPAT, NR1H3, NRGN, NRIP3, NRXN2, NTM, NUCB2, NUDT22, NUDT8, NUMA1, NUP160, NUP98, NXF1, NXPE1, NXPE2, NXPE4, OAF, OLFML1, OMP, OOSP2, OPCML, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR10AG1, OR10G4, OR10G7, OR10G8, OR10G9, OR10Q1, OR10S1, OR10V1, OR10W1, OR1S1, OR1S2, OR2AG1, OR2AG2, OR2AT4, OR2D2, OR2D3, OR4A15, OR4A16, OR4A47, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4C6, OR4D10, OR4D11, OR4D5, OR4D6, OR4D9, OR4P4, OR4S1, OR4S2, OR4X1, OR4X2, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, OR5A1, OR5A2, OR5AK2, OR5AN1, OR5AP2, OR5AR1, OR5AS1, OR5B12, OR5B17, OR5B2, OR5B21, OR5B3, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5I1, OR5J2, OR5L1, OR5L2, OR5M1, OR5M10, OR5M11, OR5M3, OR5M8, OR5M9, OR5P2, OR5P3, OR5T1, OR5T2, OR5T3, OR5W2, OR6A2, OR6M1, OR6Q1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G5, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR8U3, OR9G1, OR9G4, OR9I1, OR9Q1, OR9Q2, OSBP, OSBPL5, OTOG, OTUB1, OVCH2, OVOL1, P2RX3, P2RY2, P2RY6, P4HA3, PAAF1, PACS1, PACSIN3, PAFAH1B2, PAK1, PAMR1, PANX1, PANX3, PARVA, PATE1, PATE2, PATE3, PATE4, PATL1, PAX6, PC, PCF11, PCNX3, PCSK7, PDE2A, PDE3B, PDGFD, PDHX, PELI3, PEX16, PGA3, PGA4, PGA5, PGAP2, PGGHG, PGM2L1, PGR, PHF21A, PHLDA2, PHLDB1, PHOX2A, PHRF1, PICALM, PIDD1, PIH1D2, PIK3C2A, PITPNM1, PIWIL4, PKNOX2, PKP3, PLAAT2, PLAAT3, PLAAT4, PLAAT5, PLCB3, PLEKHA7, PLEKHB1, PLET1, PNPLA2, POGLUT3, POLA2, POLD3, POLD4, POLR2G, POLR2L, POU2AF1, POU2AF2, POU2AF3, POU2F3, PPFIA1, PPFIBP2, PPME1, PPP1CA, PPP1R14B, PPP2R1B, PPP2R5B, PPP6R3, PRCP, PRDM10, PRDM11, PRDX5, PRG2, PRG3, PRMT3, PRPF19, PRR5L, PRRG4, PRSS23, PSMA1, PSMC3, PSMD13, PTDSS2, PTGDR2, PTH, PTPMT1, PTPN5, PTPRCAP, PTPRJ, PTS, PUS3, PYGM, QSER1, RAB1B, RAB30, RAB38, RAB39A, RAB3IL1, RAB6A, RAD9A, RAG1, RAG2, RAPSN, RASGRP2, RASSF10, RASSF7, RBM14, RBM14-RBM4, RBM4, RBM4B, RBM7, RBMXL2, RCE1, RCN1, RCOR2, RDX, RELA, RELT, REXO2, RHOD, RHOG, RIC3, RIC8A, RIN1, RNASEH2C, RNF121, RNF141, RNF169, RNF214, RNF26, RNH1, ROBO3, ROBO4, ROM1, RPL27A, RPLP2, RPS13, RPS25, RPS3, RPS6KA4, RPS6KB2, RPUSD4, RRAS2, RRM1, RRP8, RSF1, RTN3, RTN4RL2, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SAC3D1, SART1, SAXO4, SBF2, SC5D, SCGB1A1, SCGB1C1, SCGB1D1, SCGB1D2, SCGB1D4, SCGB2A1, SCGB2A2, SCN2B, SCN3B, SCN4B, SCT, SCUBE2, SCYL1, SDHAF2, SDHD, SELENOH, SERGEF, SERPING1, SERPINH1, SESN3, SF1, SF3B2, SHANK2, SIAE, SIDT2, SIGIRR, SIK2, SIK3, SIPA1, SIRT3, SLC15A3, SLC17A6, SLC1A2, SLC22A10, SLC22A11, SLC22A12, SLC22A18, SLC22A18AS, SLC22A24, SLC22A25, SLC22A6, SLC22A8, SLC22A9, SLC25A22, SLC25A45, SLC29A2, SLC35C1, SLC35F2, SLC36A4, SLC37A2, SLC37A4, SLC39A13, SLC3A2, SLC43A1, SLC43A3, SLC5A12, SLC6A5, SLCO2B1, SLN, SMCO4, SMPD1, SMTNL1, SNHG1, SNORA3B, SNORD15A, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, SNX15, SNX19, SNX32, SORL1, SOX6, SPA17, SPATA19, SPCS2, SPDYC, SPI1, SPINDOC, SPON1, SPTBN2, SPTY2D1, SRPRA, SRSF8, SSH3, SSRP1, ST14, ST3GAL4, STARD10, STIM1, STIP1, STK33, STT3A, STX3, STX5, SVIP, SWAP70, SYT12, SYT13, SYT7, SYT8, SYT9, SYTL2, SYVN1, TAF10, TAF1D, TAF6L, TAGLN, TALDO1, TBC1D10C, TBCEL, TBRG1, TBX10, TCIRG1, TCN1, TCP11L1, TEAD1, TECTA, TENM4, TESMIN, TEX12, TH, THAP12, THRSP, THY1, THYN1, TIGD3, TIMM10, TIMM10B, TIMM8B, TIRAP, TKFC, TLCD5, TM7SF2, TMEM109, TMEM123, TMEM126A, TMEM126B, TMEM132A, TMEM133, TMEM134, TMEM135, TMEM138, TMEM151A, TMEM179B, TMEM216, TMEM218, TMEM223, TMEM225, TMEM25, TMEM258, TMEM41B, TMEM45B, TMEM80, TMEM86A, TMEM9B, TMPRSS13, TMPRSS4, TMPRSS5, TMX2, TNKS1BP1, TNNI2, TNNT3, TOLLIP, TOP6BL, TP53AIP1, TP53I11, TPBGL, TPCN2, TPH1, TPP1, TRAF6, TRAPPC4, TREH, TRIM21, TRIM22, TRIM29, TRIM3, TRIM34, TRIM44, TRIM48, TRIM49, TRIM49B, TRIM49C, TRIM49D1, TRIM49D2, TRIM5, TRIM51, TRIM6, TRIM64, TRIM64B, TRIM64C, TRIM66, TRIM68, TRIM77, TRMT112, TRPC6, TRPM5, TRPT1, TSG101, TSGA10IP, TSKU, TSPAN18, TSPAN32, TSPAN4, TSSC4, TTC12, TTC17, TTC36, TTC9C, TUB, TUT1, TYR, UBASH3B, UBE2L6, UBE4A, UBQLN3, UBQLNL, UBTFL1, UBXN1, UCP2, UCP3, UEVLD, UNC93B1, UPK2, UQCC3, USH1C, USP2, USP28, USP35, USP47, UVRAG, VEGFB, VPS11, VPS26B, VPS37C, VPS51, VSIG2, VSTM5, VWA5A, VWCE, WDR74, WEE1, WNT11, WT1, WT1-AS, XRRA1, YAP1, YIF1A, YPEL4, ZBED5, ZBTB16, ZBTB3, ZBTB44, ZC3H12C, ZDHHC13, ZDHHC24, ZDHHC5, ZFP91, ZFPL1, ZFTA, ZNF143, ZNF195, ZNF202, ZNF214, ZNF215, ZNF408, ZNF705E, ZNHIT2, ZNRD2, ZP1, ZPR1, ZW10, AAMDC, AASDHPPT, ABCC8, ABCG4, ABTB2, ACAD8, ACAT1, ACCS, ACCSL, ACER3, ACP2, ACRV1, ACTN3, ACY3, ADAMTS15, ADAMTS8, ADM, AGBL2, AHNAK, AIP, AKIP1, ALDH3B1, ALDH3B2, ALG8, ALG9, ALKBH3, ALKBH8, ALX4, AMBRA1, AMOTL1, AMPD3, ANAPC15, ANGPTL5, ANKK1, ANKRD13D, ANKRD42, ANKRD49, ANO1, ANO3, ANO5, ANO9, AP2A2, AP5B1, APBB1, API5, APIP, APLNR, APLP2, APOA1, APOA4, APOA5, APOC3, AQP11, ARAP1, ARAP1-AS2, ARCN1, ARFGAP2, ARFIP2, ARHGAP1, ARHGAP20, ARHGAP32, ARHGAP42, ARHGEF12, ARHGEF17, ARHGEF17-AS1, ARL14EP, ARL2, ARRB1, ART1, ART5, ASCL2, ASCL3, ASRGL1, ATG13, ATG16L2, ATG2A, ATL3, ATM, ATP5MG, B3GAT1, B3GAT3, B3GNT6, B4GALNT4, B4GAT1, BACE1, BACE1-AS, BAD, BANF1, BARX2, BATF2, BBOX1, BBS1, BCL9L, BCO2, BDNF, BDNF-AS, BEST1, BET1L, BIRC2, BIRC3, BLID, BMAL1, BRMS1, BRSK2, BSCL2, BSX, BTBD10, BTBD18, BTG4, BUD13, C11orf16, C11orf21, C11orf24, C11orf40, C11orf42, C11orf52, C11orf54, C11orf58, C11orf65, C11orf68, C11orf71, C11orf86, C11orf87, C11orf91, C11orf96, C1QTNF4, C1QTNF5, C2CD2L, C2CD3, CABP2, CABP4, CADM1, CALCA, CALCB, CAPN1, CAPN5, CAPRIN1, CARD16, CARD17, CARD18, CARNS1, CARS1, CASP1, CASP12, CASP4, CASP5, CAT, CATSPER1, CATSPERZ, CAVIN3, CBL, CBLIF, CCDC15, CCDC153, CCDC179, CCDC34, CCDC73, CCDC81, CCDC82, CCDC83, CCDC85B, CCDC86, CCDC87, CCDC88B, CCDC89, CCDC90B, CCKBR, CCND1, CCS, CD151, CD248, CD3D, CD3E, CD3G, CD44, CD5, CD59, CD6, CD81, CD82, CDC42BPG, CDC42EP2, CDCA5, CDHR5, CDK2AP2, CDKN1C, CDON, CELF1, CENATAC, CEND1, CEP126, CEP164, CEP295, CEP57, CFAP300, CFAP68, CFL1, CHEK1, CHID1, CHKA
not providedPathogenic
(Jan 1, 2013)
no assertion criteria provided
92.
GRCh37:
Chr11:198510-134934063
AAMDC, AASDHPPT, ABCC8, ABCG4, ABTB2, ACAD8, ACAT1, ACCS, ACCSL, ACER3, ACP2, ACRV1, ACTN3, ACY3, ADAMTS15, ADAMTS8, ADM, AGBL2, AHNAK, AIP, AKIP1, ALDH3B1, ALDH3B2, ALG8, ALG9, ALKBH3, ALKBH8, ALX4, AMBRA1, AMOTL1, AMPD3, ANAPC15, ANGPTL5, ANKK1, ANKRD13D, ANKRD42, ANKRD49, ANO1, ANO3, ANO5, ANO9, AP2A2, AP5B1, APBB1, API5, APIP, APLNR, APLP2, APOA1, APOA4, APOA5, APOC3, AQP11, ARAP1, ARAP1-AS2, ARCN1, ARFGAP2, ARFIP2, ARHGAP1, ARHGAP20, ARHGAP32, ARHGAP42, ARHGEF12, ARHGEF17, ARHGEF17-AS1, ARL14EP, ARL2, ARRB1, ART1, ART5, ASCL2, ASCL3, ASRGL1, ATG13, ATG16L2, ATG2A, ATL3, ATM, ATP5MG, B3GAT1, B3GAT3, B3GNT6, B4GALNT4, B4GAT1, BACE1, BACE1-AS, BAD, BANF1, BARX2, BATF2, BBOX1, BBS1, BCL9L, BCO2, BDNF, BDNF-AS, BEST1, BET1L, BIRC2, BIRC3, BLID, BMAL1, BRMS1, BRSK2, BSCL2, BSX, BTBD10, BTBD18, BTG4, BUD13, C11orf16, C11orf21, C11orf24, C11orf40, C11orf42, C11orf52, C11orf54, C11orf58, C11orf65, C11orf68, C11orf71, C11orf86, C11orf87, C11orf91, C11orf96, C1QTNF4, C1QTNF5, C2CD2L, C2CD3, CABP2, CABP4, CADM1, CALCA, CALCB, CAPN1, CAPN5, CAPRIN1, CARD16, CARD17, CARD18, CARNS1, CARS1, CASP1, CASP12, CASP4, CASP5, CAT, CATSPER1, CATSPERZ, CAVIN3, CBL, CBLIF, CCDC15, CCDC153, CCDC179, CCDC34, CCDC73, CCDC81, CCDC82, CCDC83, CCDC85B, CCDC86, CCDC87, CCDC88B, CCDC89, CCDC90B, CCKBR, CCND1, CCS, CD151, CD248, CD3D, CD3E, CD3G, CD44, CD5, CD59, CD6, CD81, CD82, CDC42BPG, CDC42EP2, CDCA5, CDHR5, CDK2AP2, CEP126, CDKN1C, CDON, CELF1, CENATAC, CEND1, CEP164, CEP295, CEP57, CFAP300, CFAP68, CFL1, CHEK1, CHID1, CHKA, CHORDC1, CHRDL2, CHRM1, CHRM4, CHRNA10, CHST1, CIMAP1A, CKAP5, CLCF1, CLDN25, CLMP, CLNS1A, CLP1, CLPB, CNGA4, CNIH2, CNTF, CNTN5, COA4, COMMD9, COPB1, CORO1B, COX8A, CPSF7, CPT1A, CRACR2B, CREB3L1, CREBZF, CRTAM, CRY2, CRYAB, CSKMT, CSNK2A3, CSRP3, CST6, CSTF3, CSTPP1, CTNND1, CTR9, CTSC, CTSD, CTSF, CTSW, CTTN, CUL5, CWC15, CWF19L2, CXCR5, CYB561A3, CYB5R2, CYP2R1, DAGLA, DBX1, DCDC1, DCHS1, DCPS, DCUN1D5, DDB1, DDB2, DDI1, DDIAS, DDX10, DDX25, DDX6, DEAF1, DEFB108B, DENND2B, DENND5A, DEPDC7, DEUP1, DGAT2, DGKZ, DHCR7, DIXDC1, DKK3, DLAT, DLG2, DNAJB13, DNAJC24, DNAJC4, DNHD1, DPAGT1, DPF2, DPP3, DRAP1, DRD2, DRD4, DSCAML1, DTX4, DUSP8, DYNC2H1, E2F8, EED, EEF1G, EFEMP2, EHBP1L1, EHD1, EHF, EI24, EIF1AD, EIF3F, EIF3M, EIF4G2, ELF5, ELMOD1, ELP4, EML3, EMSY, ENDOD1, EPS8L2, ESAM, ESRRA, ETS1, EXPH5, EXT2, F2, FADD, FADS1, FADS2, FADS3, FAM111A, FAM111B, FAM118B, FAM168A, FAM180B, FAM181B, FAM76B, FAM86C1P, FAM89B, FANCF, FAR1, FAT3, FAU, FBXO3, FCHSD2, FDX1, FDXACB1, FEN1, FERMT3, FEZ1, FGF19, FGF3, FGF4, FHIP1B, FIBIN, FIBP, FJX1, FKBP2, FLI1, FLRT1, FNBP4, FOLH1, FOLH1B, FOLR1, FOLR2, FOLR3, FOSL1, FOXR1, FOXRED1, FREY1, FRMD8, FSHB, FTH1, FUT4, FXYD2, FXYD6, FXYD6-FXYD2, FZD4, GAB2, GAL, GAL3ST3, GALNT18, GANAB, GAS2, GATD1, GDPD4, GDPD5, GLB1L2, GLB1L3, GLYAT, GLYATL1, GLYATL2, GNG3, GPHA2, GPR137, GPR152, GPR83, GRAMD1B, GRIA4, GRIK4, GRK2, GRM5, GSTP1, GTF2H1, GUCY1A2, H19, H2AX, HARBI1, HBB, HBD, HBE1, HBG1, HBG2, HEPACAM, HEPHL1, HEPN1, HIKESHI, HINFP, HIPK3, HMBS, HNRNPUL2, HOATZ, HPS5, HPX, HRAS, HSD17B12, HSPA8, HSPB2, HTATIP2, HTR3A, HTR3B, HYLS1, HYOU1, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IFT46, IFTAP, IGF2, IGF2-AS, IGHMBP2, IGSF22, IGSF9B, IL10RA, IL18, IL18BP, ILK, IMMP1L, INCENP, INPPL1, INS, INS-IGF2, INSC, INTS4, INTS5, IPO7, IRAG1, IRF7, IZUMO1R, JAM3, JAML, JHY, JRKL, KAT5, KBTBD3, KBTBD4, KCNA4, KCNC1, KCNE3, KCNJ1, KCNJ11, KCNJ5, KCNJ5-AS1, KCNK4, KCNK7, KCNQ1, KCNQ1DN, KCNQ1OT1, KCTD14, KCTD21, KDM2A, KDM4D, KDM4E, KIAA1549L, KIF18A, KIRREL3, KLC2, KLHL35, KMT2A, KMT5B, KRTAP5-1, KRTAP5-10, KRTAP5-11, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LARGE2, LAYN, LBHD1, LDHA, LDHAL6A, LDHC, LDLRAD3, LGALS12, LGR4, LIN7C, LINC00294, LINC02714, LINC02743, LINC02873, LIPT2, LMNTD2, LMNTD2-AS1, LMO1, LMO2, LOC100132686, LOC101929473, LPXN, LRFN4, LRP4, LRP5, LRRC10B, LRRC32, LRRC4C, LRRC55, LRRC56, LRRN4CL, LRTOMT, LSP1, LTBP3, LTO1, LUZP2, LYVE1, MACROD1, MADD, MADD-AS1, MAJIN, MALAT1, MAML2, MAP3K11, MAP4K2, MAP6, MAPK8IP1, MARK2, MCAM, MDK, ME3, MED17, MED19, MEN1, METTL15, MFRP, MICAL2, MICALCL, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR210, MIR210HG, MIR326, MIR34B, MIR34BHG, MIR34C, MIR610, MIRLET7A2, MMP1, MMP10, MMP12, MMP13, MMP20, MMP26, MMP27, MMP3, MMP7, MMP8, MOB2, MOGAT2, MPEG1, MPPED2, MPZL2, MPZL3, MRE11, MRGPRD, MRGPRE, MRGPRF, MRGPRG, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MRPL11, MRPL16, MRPL17, MRPL21, MRPL23, MRPL48, MRPL49, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MSANTD2, MSANTD4, MTA2, MTCH2, MTMR2, MTNR1B, MTRNR2L8, MUC15, MUC2, MUC5AC, MUC5B, MUC6, MUS81, MYBPC3, MYEOV, MYO7A, MYOD1, MYRF, NAA40, NAALAD2, NAALADL1, NADSYN1, NAP1L4, NARS2, NAT10, NAV2, NCAM1, NCAPD3, NCR3LG1, NDUFC2, NDUFC2-KCTD14, NDUFS3, NDUFS8, NDUFV1, NDUFV1-DT, NEAT1, NECTIN1, NELL1, NEU3, NFRKB, NHERF4, NKAPD1, NLRP10, NLRP14, NLRP6, NLRX1, NNMT, NOX4, NPAS4, NPAT, NR1H3, NRGN, NRIP3, NRXN2, NTM, NUCB2, NUDT22, NUDT8, NUMA1, NUP160, NUP98, NXF1, NXPE1, NXPE2, NXPE4, OAF, OLFML1, OMP, OOSP2, OPCML, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR10AG1, OR10G4, OR10G7, OR10G8, OR10G9, OR10Q1, OR10S1, OR10V1, OR10W1, OR1S1, OR1S2, OR2AG1, OR2AG2, OR2AT4, OR2D2, OR2D3, OR4A15, OR4A16, OR4A47, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4C6, OR4D10, OR4D11, OR4D5, OR4D6, OR4D9, OR4P4, OR4S1, OR4S2, OR4X1, OR4X2, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, OR5A1, OR5A2, OR5AK2, OR5AN1, OR5AP2, OR5AR1, OR5AS1, OR5B12, OR5B17, OR5B2, OR5B21, OR5B3, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5I1, OR5J2, OR5L1, OR5L2, OR5M1, OR5M10, OR5M11, OR5M3, OR5M8, OR5M9, OR5P2, OR5P3, OR5T1, OR5T2, OR5T3, OR5W2, OR6A2, OR6M1, OR6Q1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G5, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR8U3, OR9G1, OR9G4, OR9I1, OR9Q1, OR9Q2, OSBP, OSBPL5, OTOG, OTUB1, OVCH2, OVOL1, P2RX3, P2RY2, P2RY6, P4HA3, PAAF1, PACS1, PACSIN3, PAFAH1B2, PAK1, PAMR1, PANX1, PANX3, PARVA, PATE1, PATE2, PATE3, PATE4, PATL1, PAX6, PC, PCF11, PCNX3, PCSK7, PDE2A, PDE3B, PDGFD, PDHX, PELI3, PEX16, PGA3, PGA4, PGA5, PGAP2, PGGHG, PGM2L1, PGR, PHF21A, PHLDA2, PHLDB1, PHOX2A, PHRF1, PICALM, PIDD1, PIH1D2, PIK3C2A, PITPNM1, PIWIL4, PKNOX2, PKP3, PLAAT2, PLAAT3, PLAAT4, PLAAT5, PLCB3, PLEKHA7, PLEKHB1, PLET1, PNPLA2, POGLUT3, POLA2, POLD3, POLD4, POLR2G, POLR2L, POU2AF1, POU2AF2, POU2AF3, POU2F3, PPFIA1, PPFIBP2, PPME1, PPP1CA, PPP1R14B, PPP2R1B, PPP2R5B, PPP6R3, PRCP, PRDM10, PRDM11, PRDX5, PRG2, PRG3, PRMT3, PRPF19, PRR5L, PRRG4, PRSS23, PSMA1, PSMC3, PSMD13, PTDSS2, PTGDR2, PTH, PTPMT1, PTPN5, PTPRCAP, PTPRJ, PTS, PUS3, PYGM, QSER1, RAB1B,