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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr12:116398786
GRCh38:
Chr12:115960981
MED13Lnot providedLikely benign
(Sep 29, 2019)
criteria provided, single submitterVCV001215451
2.
GRCh37:
Chr12:116399060
GRCh38:
Chr12:115961255
MED13Lnot providedBenign
(Mar 3, 2021)
criteria provided, single submitterVCV001266549
3.
GRCh37:
Chr12:116399121
GRCh38:
Chr12:115961316
MED13LH2195YSee casesLikely pathogenic
(Apr 26, 2021)
criteria provided, single submitterVCV001098385
4.
GRCh37:
Chr12:116399124
GRCh38:
Chr12:115961319
MED13LV2194IIntellectual disabilityLikely benign
(Jan 1, 2019)
no assertion criteria providedVCV000975438
5.
GRCh37:
Chr12:116399127
GRCh38:
Chr12:115961322
MED13LP2193TMental retardation and distinctive facial features with or without cardiac defectsUncertain significance
(Dec 3, 2020)
criteria provided, single submitterVCV001285473
6.
GRCh37:
Chr12:116399133-116399134
GRCh38:
Chr12:115961328-115961329
MED13LC2191fsTransposition of the great arteries, dextro-looped 1Uncertain significance
(Aug 17, 2018)
criteria provided, single submitterVCV000642696
7.
GRCh37:
Chr12:116399148
GRCh38:
Chr12:115961343
MED13LQ2186*Mental retardation and distinctive facial features with or without cardiac defects, not providedLikely pathogenic
(Aug 18, 2017)
criteria provided, single submitterVCV000451351
8.
GRCh37:
Chr12:116399155
GRCh38:
Chr12:115961350
MED13Lnot providedLikely benignno assertion criteria providedVCV001297680
9.
GRCh37:
Chr12:116399159
GRCh38:
Chr12:115961354
MED13LN2182STransposition of the great arteries, dextro-looped 1Uncertain significance
(Apr 20, 2017)
criteria provided, single submitterVCV000464495
10.
GRCh37:
Chr12:116399164
GRCh38:
Chr12:115961359
MED13LTransposition of the great arteries, dextro-looped 1Likely benign
(Mar 8, 2020)
criteria provided, single submitterVCV001157440
11.
GRCh37:
Chr12:116399165
GRCh38:
Chr12:115961360
MED13LT2180Mnot providedUncertain significance
(Oct 28, 2019)
criteria provided, single submitterVCV001309724
12.
GRCh37:
Chr12:116399182
GRCh38:
Chr12:115961377
MED13Lnot providedLikely benign
(Jun 29, 2018)
criteria provided, single submitterVCV000697909
13.
GRCh37:
Chr12:116401224
GRCh38:
Chr12:115963419
MED13LS2163LTransposition of the great arteries, dextro-looped 1, Mental retardation and distinctive facial features with or without cardiac defects, not provided
Pathogenic/Likely pathogenic
(Sep 1, 2019)
criteria provided, multiple submitters, no conflictsVCV000620012
14.
GRCh37:
Chr12:116401226
GRCh38:
Chr12:115963421
MED13LTransposition of the great arteries, dextro-looped 1Likely benign
(Sep 9, 2019)
criteria provided, single submitterVCV000718210
15.
GRCh37:
Chr12:116401227
GRCh38:
Chr12:115963422
MED13LT2162MMental retardation and distinctive facial features with or without cardiac defects, not providedPathogenic
(Nov 24, 2020)
criteria provided, multiple submitters, no conflictsVCV000224153
16.
GRCh37:
Chr12:116401250-116401251
GRCh38:
Chr12:115963445-115963446
MED13LH2155fsnot providedLikely pathogenic
(Jul 27, 2018)
criteria provided, single submitterVCV000817166
17.
GRCh37:
Chr12:116401294
GRCh38:
Chr12:115963489
MED13LQ2140*Inborn genetic diseases, not providedPathogenic
(Oct 16, 2017)
criteria provided, multiple submitters, no conflictsVCV000452776
18.
GRCh37:
Chr12:116401326
GRCh38:
Chr12:115963521
MED13Lnot providedPathogenic
(Apr 1, 2019)
criteria provided, single submitterVCV000806954
19.
GRCh37:
Chr12:116403907
GRCh38:
Chr12:115966102
MED13LQ2123*not providedPathogenic
(Feb 1, 2020)
criteria provided, single submitterVCV000916305
20.
GRCh37:
Chr12:116403920
GRCh38:
Chr12:115966115
MED13Lnot provided, Transposition of the great arteries, dextro-looped 1Benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV001167677
21.
GRCh37:
Chr12:116403926
GRCh38:
Chr12:115966121
MED13Lnot provided, Transposition of the great arteries, dextro-looped 1Likely benign
(Mar 10, 2021)
criteria provided, multiple submitters, no conflictsVCV000698812
22.
GRCh37:
Chr12:116403927
GRCh38:
Chr12:115966122
MED13LS2116LTransposition of the great arteries, dextro-looped 1Uncertain significance
(Jul 21, 2020)
criteria provided, single submitterVCV001015642
23.
GRCh37:
Chr12:116403938
GRCh38:
Chr12:115966133
MED13LW2112*Inborn genetic diseasesPathogenic
(Aug 18, 2016)
criteria provided, single submitterVCV000521253
24.
GRCh37:
Chr12:116403943
GRCh38:
Chr12:115966138
MED13LQ2111*Inborn genetic diseasesPathogenic
(Nov 2, 2016)
criteria provided, single submitterVCV000521384
25.
GRCh37:
Chr12:116403956
GRCh38:
Chr12:115966151
MED13LTransposition of the great arteries, dextro-looped 1Likely benign
(Sep 10, 2020)
criteria provided, single submitterVCV001089589
26.
GRCh37:
Chr12:116403963
GRCh38:
Chr12:115966158
MED13LA2104VTransposition of the great arteries, dextro-looped 1Uncertain significance
(Nov 28, 2018)
criteria provided, single submitterVCV000643671
27.
GRCh37:
Chr12:116403989-116403990
GRCh38:
Chr12:115966184-115966185
MED13LA2096fsnot providedPathogenic
(Mar 11, 2016)
criteria provided, single submitterVCV000280413
28.
GRCh37:
Chr12:116403994
GRCh38:
Chr12:115966189
MED13LP2094TInborn genetic diseasesPathogenic
(May 21, 2015)
criteria provided, single submitterVCV000520657
29.
GRCh37:
Chr12:116404000
GRCh38:
Chr12:115966195
MED13LQ2092EMental retardation and distinctive facial features with or without cardiac defectsUncertain significance
(Dec 12, 2016)
criteria provided, single submitterVCV000976386
30.
GRCh37:
Chr12:116404014
GRCh38:
Chr12:115966209
MED13LP2087fsMental retardation and distinctive facial features with or without cardiac defectsPathogenicno assertion criteria providedVCV000626269
31.
GRCh37:
Chr12:116404049
GRCh38:
Chr12:115966244
MED13LMental retardation and distinctive facial features with or without cardiac defectsPathogenic
(Mar 3, 2017)
no assertion criteria providedVCV000984749
32.
GRCh37:
Chr12:116406725
GRCh38:
Chr12:115968920
MED13Lnot providedBenign
(Jul 14, 2020)
criteria provided, single submitterVCV001259840
33.
GRCh37:
Chr12:116406774-116406775
GRCh38:
Chr12:115968969-115968970
MED13LG2066fsMental retardation and distinctive facial features with or without cardiac defectsPathogenic
(Aug 31, 2021)
no assertion criteria providedVCV001319952
34.
GRCh37:
Chr12:116406815
GRCh38:
Chr12:115969010
MED13LN2052TMental retardation and distinctive facial features with or without cardiac defectsUncertain significancecriteria provided, single submitterVCV000431730
35.
GRCh37:
Chr12:116406819
GRCh38:
Chr12:115969014
MED13LP2051SMental retardation and distinctive facial features with or without cardiac defectsUncertain significance
(Oct 6, 2021)
criteria provided, single submitterVCV001299588
36.
GRCh37:
Chr12:116406845-116406852
GRCh38:
Chr12:115969040-115969047
MED13LG2040fsMental retardation and distinctive facial features with or without cardiac defects, Intellectual disabilityPathogenic
(Jul 25, 2014)
criteria provided, single submitterVCV000221556
37.
GRCh37:
Chr12:116406891
GRCh38:
Chr12:115969086
MED13LV2027FInborn genetic diseasesUncertain significance
(Aug 21, 2018)
criteria provided, single submitterVCV000985400
38.
GRCh37:
Chr12:116406896-116406897
GRCh38:
Chr12:115969091-115969092
MED13LM2025fsnot providedPathogenic
(May 9, 2017)
criteria provided, single submitterVCV000429444
39.
GRCh37:
Chr12:116406902
GRCh38:
Chr12:115969097
MED13LD2023GTransposition of the great arteries, dextro-looped 1Uncertain significance
(Dec 9, 2003)
no assertion criteria providedVCV000002108
40.
GRCh37:
Chr12:116406910
GRCh38:
Chr12:115969105
MED13Lnot provided, Intellectual disability, Transposition of the great arteries, dextro-looped 1
Benign/Likely benign
(Nov 2, 2021)
criteria provided, multiple submitters, no conflictsVCV000241045
41.
GRCh37:
Chr12:116408257
GRCh38:
Chr12:115970452
MED13Lnot providedBenign
(Jul 3, 2018)
criteria provided, single submitterVCV001295216
42.
GRCh37:
Chr12:116408453
GRCh38:
Chr12:115970648
MED13LI2005Fnot specifiedUncertain significance
(Jan 27, 2021)
criteria provided, single submitterVCV000996302
43.
GRCh37:
Chr12:116408468-116408470
GRCh38:
Chr12:115970663-115970665
MED13LTransposition of the great arteries, dextro-looped 1, Mental retardation and distinctive facial features with or without cardiac defectsUncertain significance
(May 25, 2018)
no assertion criteria providedVCV000441145
44.
GRCh37:
Chr12:116408475-116408476
GRCh38:
Chr12:115970670-115970671
MED13LL1997fsMental retardation and distinctive facial features with or without cardiac defects, Transposition of the great arteries, dextro-looped 1Pathogenic
(Feb 21, 2018)
criteria provided, single submitterVCV000984811
45.
GRCh37:
Chr12:116408488
GRCh38:
Chr12:115970683
MED13LC1993YMental retardation and distinctive facial features with or without cardiac defectsUncertain significance
(Oct 25, 2021)
criteria provided, single submitterVCV001321283
46.
GRCh37:
Chr12:116408501
GRCh38:
Chr12:115970696
MED13LQ1989*Mental retardation and distinctive facial features with or without cardiac defectsLikely pathogenic
(Sep 13, 2017)
criteria provided, single submitterVCV000559865
47.
GRCh37:
Chr12:116408511
GRCh38:
Chr12:115970706
MED13Lnot provided, Transposition of the great arteries, dextro-looped 1Benign/Likely benign
(Nov 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000415964
48.
GRCh37:
Chr12:116408515
GRCh38:
Chr12:115970710
MED13LQ1984Rnot providedUncertain significance
(Jul 25, 2019)
criteria provided, single submitterVCV001307235
49.
GRCh37:
Chr12:116408516-116408517
GRCh38:
Chr12:115970711-115970712
MED13LQ1984fsImpaired intellectual development and distinctive facial features with cardiac defectsPathogenic
(Sep 30, 2021)
no assertion criteria providedVCV000221560
50.
GRCh37:
Chr12:116408517
GRCh38:
Chr12:115970712
MED13Lnot providedLikely benign
(Aug 16, 2018)
criteria provided, single submitterVCV000703400
51.
GRCh37:
Chr12:116408527
GRCh38:
Chr12:115970722
MED13LM1980KTransposition of the great arteries, dextro-looped 1Uncertain significance
(Dec 3, 2019)
criteria provided, single submitterVCV000852862
52.
GRCh37:
Chr12:116408538
GRCh38:
Chr12:115970733
MED13Lnot provided, Transposition of the great arteries, dextro-looped 1Benign
(Dec 3, 2020)
criteria provided, multiple submitters, no conflictsVCV001167678
53.
GRCh37:
Chr12:116408545
GRCh38:
Chr12:115970740
MED13LR1974Qnot providedUncertain significance
(Jul 1, 2019)
criteria provided, single submitterVCV000871451
54.
GRCh37:
Chr12:116408617
GRCh38:
Chr12:115970812
MED13Lnot providedBenign
(Mar 30, 2020)
criteria provided, single submitterVCV001221007
55.
GRCh37:
Chr12:116408746
GRCh38:
Chr12:115970941
MED13Lnot providedLikely benign
(Dec 24, 2018)
criteria provided, single submitterVCV001186523
56.
GRCh37:
Chr12:116408859
GRCh38:
Chr12:115971054
MED13Lnot providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV001211981
57.
GRCh37:
Chr12:116409806
GRCh38:
Chr12:115972001
MED13Lnot providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV001220338
58.
GRCh37:
Chr12:116409907
GRCh38:
Chr12:115972102
MED13LQ1956*not providedPathogenic
(Aug 8, 2018)
criteria provided, single submitterVCV000620310
59.
GRCh37:
Chr12:116409923
GRCh38:
Chr12:115972118
MED13Lnot providedLikely benign
(Sep 1, 2019)
criteria provided, single submitterVCV000871452
60.
GRCh37:
Chr12:116409946
GRCh38:
Chr12:115972141
MED13LP1943TInborn genetic diseasesUncertain significance
(Jun 24, 2016)
criteria provided, single submitterVCV000521106
61.
GRCh37:
Chr12:116409964
GRCh38:
Chr12:115972159
MED13LI1937Lnot providedBenign/Likely benign
(Nov 24, 2020)
criteria provided, multiple submitters, no conflictsVCV000798160
62.
GRCh37:
Chr12:116409967-116409977
GRCh38:
Chr12:115972162-115972172
MED13LC1932fsInborn genetic diseases, Mental retardation and distinctive facial features with or without cardiac defects, not provided
Pathogenic
(Oct 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000984809
63.
GRCh37:
Chr12:116409971
GRCh38:
Chr12:115972166
MED13LM1934ITransposition of the great arteries, dextro-looped 1, not providedBenign/Likely benign
(Nov 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000772605
64.
GRCh37:
Chr12:116409988
GRCh38:
Chr12:115972183
MED13LK1929Enot providedLikely pathogenic
(Sep 8, 2016)
criteria provided, single submitterVCV000422146
65.
GRCh37:
Chr12:116410005
GRCh38:
Chr12:115972200
MED13LT1923Inot providedBenign/Likely benign
(Jun 21, 2021)
criteria provided, multiple submitters, no conflictsVCV000700690
66.
GRCh37:
Chr12:116410044
GRCh38:
Chr12:115972239
MED13LTransposition of the great arteries, dextro-looped 1, not providedConflicting interpretations of pathogenicity
(Sep 17, 2020)
criteria provided, conflicting interpretationsVCV000597648
67.
GRCh37:
Chr12:116412921
GRCh38:
Chr12:115975116
MED13Lnot providedBenign
(Jul 3, 2018)
criteria provided, single submitterVCV001230530
68.
GRCh37:
Chr12:116412922
GRCh38:
Chr12:115975117
MED13Lnot providedBenign
(Jul 3, 2018)
criteria provided, single submitterVCV001265820
69.
GRCh37:
Chr12:116412991
GRCh38:
Chr12:115975186
MED13LH1906YTransposition of the great arteries, dextro-looped 1Uncertain significance
(Jul 7, 2020)
criteria provided, single submitterVCV001044216
70.
GRCh37:
Chr12:116413009
GRCh38:
Chr12:115975204
MED13LR1900*Mental retardation and distinctive facial features with or without cardiac defects, not providedPathogenic
(Jul 12, 2019)
criteria provided, single submitterVCV000984826
71.
GRCh37:
Chr12:116413012
GRCh38:
Chr12:115975207
MED13LG1899RMental retardation and distinctive facial features with or without cardiac defectsLikely pathogenicno assertion criteria providedVCV001240004
72.
GRCh37:
Chr12:116413043
GRCh38:
Chr12:115975238
MED13Lnot providedLikely benign
(Mar 1, 2021)
criteria provided, single submitterVCV001254506
73.
GRCh37:
Chr12:116413048
GRCh38:
Chr12:115975243
MED13LV1887IMental retardation and distinctive facial features with or without cardiac defectsUncertain significance
(Dec 7, 2018)
criteria provided, single submitterVCV001033772
74.
GRCh37:
Chr12:116413049
GRCh38:
Chr12:115975244
MED13LTransposition of the great arteries, dextro-looped 1Likely benign
(Jul 29, 2019)
criteria provided, single submitterVCV000696352
75.
GRCh37:
Chr12:116413074-116413081
GRCh38:
Chr12:115975269-115975276
MED13LL1876fsMental retardation and distinctive facial features with or without cardiac defectsLikely pathogenic
(Sep 14, 2017)
criteria provided, single submitterVCV000976118
76.
GRCh37:
Chr12:116413076
GRCh38:
Chr12:115975271
MED13LQ1877HTransposition of the great arteries, dextro-looped 1Uncertain significance
(May 23, 2017)
criteria provided, single submitterVCV000464494
77.
GRCh37:
Chr12:116413077-116413082
GRCh38:
Chr12:115975272-115975277
MED13LMental retardation and distinctive facial features with or without cardiac defectsUncertain significance
(Jan 1, 2019)
criteria provided, single submitterVCV000982675
78.
GRCh37:
Chr12:116413077
GRCh38:
Chr12:115975272
MED13LQ1877RIntellectual disabilityLikely benign
(Jan 1, 2019)
no assertion criteria providedVCV000975436
79.
GRCh37:
Chr12:116413092
GRCh38:
Chr12:115975287
MED13LR1872HTransposition of the great arteries, dextro-looped 1Uncertain significance
(Aug 2, 2018)
criteria provided, single submitterVCV000002107
80.
GRCh37:
Chr12:116413119
GRCh38:
Chr12:115975314
MED13Lnot providedPathogenic
(Feb 27, 2017)
criteria provided, single submitterVCV000423638
81.
GRCh37:
Chr12:116413319
GRCh38:
Chr12:115975514
MED13LMental retardation and distinctive facial features with or without cardiac defectsPathogenic
(Jan 6, 2017)
criteria provided, single submitterVCV000431140
82.
GRCh37:
Chr12:116413345
GRCh38:
Chr12:115975540
MED13LV1855ITransposition of the great arteries, dextro-looped 1Likely benign
(Apr 14, 2020)
criteria provided, single submitterVCV001094975
83.
GRCh37:
Chr12:116413346
GRCh38:
Chr12:115975541
MED13Lnot providedLikely benign
(Jun 29, 2020)
criteria provided, single submitterVCV001198898
84.
GRCh37:
Chr12:116413346
GRCh38:
Chr12:115975541
MED13LC1854*Mental retardation and distinctive facial features with or without cardiac defectsPathogenic
(Jan 1, 2019)
criteria provided, single submitterVCV000982756
85.
GRCh37:
Chr12:116413349
GRCh38:
Chr12:115975544
MED13LTransposition of the great arteries, dextro-looped 1Likely benign
(Jun 17, 2019)
criteria provided, single submitterVCV001159407
86.
GRCh37:
Chr12:116413398
GRCh38:
Chr12:115975593
MED13LR1837Hnot providedUncertain significance
(Jul 18, 2019)
criteria provided, single submitterVCV001307114
87.
GRCh37:
Chr12:116413400
GRCh38:
Chr12:115975595
MED13LTransposition of the great arteries, dextro-looped 1Likely benign
(Apr 23, 2020)
criteria provided, single submitterVCV001127162
88.
GRCh37:
Chr12:116413406
GRCh38:
Chr12:115975601
MED13Lnot providedBenign/Likely benign
(Feb 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000695789
89.
GRCh37:
Chr12:116413406
GRCh38:
Chr12:115975601
MED13LH1834fsTransposition of the great arteries, dextro-looped 1, Mental retardation and distinctive facial features with or without cardiac defectsPathogenic
(Jul 19, 2018)
criteria provided, single submitterVCV000620030
90.
GRCh37:
Chr12:116413437
GRCh38:
Chr12:115975632
MED13LN1824STransposition of the great arteries, dextro-looped 1Uncertain significance
(Jan 23, 2020)
criteria provided, single submitterVCV001062651
91.
GRCh37:
Chr12:116413448-116413449
GRCh38:
Chr12:115975643-115975644
MED13LS1820Inot providedUncertain significance
(May 17, 2019)
criteria provided, single submitterVCV001306069
92.
GRCh37:
Chr12:116413464
GRCh38:
Chr12:115975659
MED13LT1815fsMental retardation and distinctive facial features with or without cardiac defects, not providedPathogenic
(Aug 10, 2015)
criteria provided, single submitterVCV000252696
93.
GRCh37:
Chr12:116413499
GRCh38:
Chr12:115975694
MED13Lnot provided, Transposition of the great arteries, dextro-looped 1Likely benign
(Aug 20, 2018)
criteria provided, single submitterVCV000767622
94.
GRCh37:
Chr12:116413525
GRCh38:
Chr12:115975720
MED13LL1795VMental retardation and distinctive facial features with or without cardiac defectsUncertain significance
(Jan 29, 2020)
criteria provided, single submitterVCV000930677
95.
GRCh37:
Chr12:116413532
GRCh38:
Chr12:115975727
MED13LTransposition of the great arteries, dextro-looped 1Likely benign
(Jan 29, 2020)
criteria provided, single submitterVCV001139269
96.
GRCh37:
Chr12:116413544
GRCh38:
Chr12:115975739
MED13LInborn genetic diseasesPathogenic
(Jan 19, 2018)
criteria provided, single submitterVCV000986094
97.
GRCh37:
Chr12:116413565
GRCh38:
Chr12:115975760
MED13Lnot providedBenign
(Jul 27, 2021)
criteria provided, single submitterVCV001302100
98.
GRCh37:
Chr12:116413565
GRCh38:
Chr12:115975760
MED13Lnot providedLikely benign
(Nov 25, 2020)
criteria provided, single submitterVCV001200670
99.
GRCh37:
Chr12:116413678
GRCh38:
Chr12:115975873
MED13Lnot providedLikely benign
(Dec 24, 2019)
criteria provided, single submitterVCV001194662
100.
GRCh37:
Chr12:116413835
GRCh38:
Chr12:115976030
MED13Lnot providedLikely benign
(Nov 22, 2018)
criteria provided, single submitterVCV001205127
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