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Items: 54

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:49399494
GRCh38:
Chr6:49431781
MUTMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not providedPathogenic
(Sep 8, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr6:49399544
GRCh38:
Chr6:49431831
MUTMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, METHYLMALONIC ACIDURIA, mut(-) TYPE, not provided
Pathogenic
(May 24, 2017)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr6:49403271
GRCh38:
Chr6:49435558
MUTnot specifiedLikely benign
(Jul 1, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr6:49407903
GRCh38:
Chr6:49440190
MUTnot specifiedLikely benign
(Feb 16, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr6:49407931
GRCh38:
Chr6:49440218
MUTnot specifiedLikely benign
(Apr 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr6:49407977
GRCh38:
Chr6:49440264
MUTnot providedPathogenic
(Sep 7, 2017)
criteria provided, single submitter
7.
GRCh37:
Chr6:49407986
GRCh38:
Chr6:49440273
MUTnot providedLikely pathogenic
(Sep 30, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr6:49407990
GRCh38:
Chr6:49440277
MUTnot providedPathogenic
(Mar 12, 2014)
criteria provided, single submitter
9.
GRCh37:
Chr6:49408008
GRCh38:
Chr6:49440295
MUTMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, METHYLMALONIC ACIDURIA, mut(0) TYPE, not provided
Pathogenic
(Jan 31, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr6:49409538
GRCh38:
Chr6:49441825
MUTMethylmalonic acidemia, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr6:49412342
GRCh38:
Chr6:49444629
MUTnot specifiedLikely benign
(May 22, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr6:49412365
GRCh38:
Chr6:49444652
MUTMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not providedPathogenic/Likely pathogenic
(Dec 19, 2013)
criteria provided, single submitter
13.
GRCh37:
Chr6:49412397-49412398
GRCh38:
Chr6:49444684-49444685
MUTnot providedPathogenic
(Mar 21, 2017)
criteria provided, single submitter
14.
GRCh37:
Chr6:49412399
GRCh38:
Chr6:49444686
MUTMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, not specified
Conflicting interpretations of pathogenicity
(Jun 23, 2017)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr6:49415428
GRCh38:
Chr6:49447715
MUTMethylmalonic acidemia, not specifiedConflicting interpretations of pathogenicity
(Dec 11, 2017)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr6:49416563
GRCh38:
Chr6:49448850
MUTnot specifiedLikely benign
(Oct 19, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr6:49416658
GRCh38:
Chr6:49448945
MUTnot specifiedLikely benign
(Aug 21, 2017)
criteria provided, single submitter
18.
GRCh37:
Chr6:49419176
GRCh38:
Chr6:49451463
MUTMethylmalonic acidemia, not specifiedUncertain significance
(Apr 25, 2017)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr6:49419305
GRCh38:
Chr6:49451592
MUTnot specifiedLikely benign
(Apr 19, 2017)
criteria provided, single submitter
20.
GRCh37:
Chr6:49419396
GRCh38:
Chr6:49451683
MUTMethylmalonic acidemia, not specifiedUncertain significance
(Oct 16, 2017)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr6:49419403
GRCh38:
Chr6:49451690
MUTMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not providedLikely pathogenic
(Apr 11, 2017)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr6:49419405
GRCh38:
Chr6:49451692
MUTMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not providedPathogenic
(Apr 21, 2017)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr6:49419406
GRCh38:
Chr6:49451693
MUTMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not providedPathogenic
(Mar 27, 2017)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr6:49419437
GRCh38:
Chr6:49451724
MUTnot specifiedUncertain significance
(Oct 6, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr6:49421278
GRCh38:
Chr6:49453565
MUTnot specifiedLikely benign
(Mar 9, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr6:49421313
GRCh38:
Chr6:49453600-49453603
MUTnot providedPathogenic
(Sep 1, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr6:49421340
GRCh38:
Chr6:49453627
MUTnot specifiedLikely benign
(Jul 27, 2017)
criteria provided, single submitter
28.
GRCh37:
Chr6:49421374
GRCh38:
Chr6:49453661
MUTnot providedPathogenic
(Feb 1, 2017)
criteria provided, single submitter
29.
GRCh37:
Chr6:49421405
GRCh38:
Chr6:49453692
MUTnot providedLikely pathogenic
(Apr 29, 2015)
criteria provided, single submitter
30.
GRCh37:
Chr6:49421464
GRCh38:
Chr6:49453751
MUTnot providedLikely pathogenic
(Jul 20, 2015)
criteria provided, single submitter
31.
GRCh37:
Chr6:49423862
GRCh38:
Chr6:49456149
MUTnot providedPathogenic
(Aug 26, 2013)
criteria provided, single submitter
32.
GRCh37:
Chr6:49423950
GRCh38:
Chr6:49456237
MUTnot specifiedUncertain significance
(Nov 3, 2014)
criteria provided, single submitter
33.
GRCh37:
Chr6:49425414
GRCh38:
Chr6:49457701
MUTnot specifiedUncertain significance
(Mar 6, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr6:49425446
GRCh38:
Chr6:49457733
MUTMethylmalonic acidemia, not specifiedConflicting interpretations of pathogenicity
(Jan 31, 2017)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr6:49425475
GRCh38:
Chr6:49457762
MUTnot providedPathogenic
(Jun 22, 2017)
criteria provided, single submitter
36.
GRCh37:
Chr6:49425502
GRCh38:
Chr6:49457789
MUTMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, METHYLMALONIC ACIDURIA, mut(0) TYPE,
not provided
Pathogenic
(Apr 13, 2017)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr6:49425514
GRCh38:
Chr6:49457801
MUTnot providedLikely pathogenic
(Apr 20, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr6:49425521
GRCh38:
Chr6:49457808
MUTMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, not specified
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr6:49425585
GRCh38:
Chr6:49457872
MUTMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, not provided
Pathogenic
(Apr 7, 2017)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr6:49425586
GRCh38:
Chr6:49457873
MUTnot providedLikely pathogenic
(Aug 16, 2017)
criteria provided, single submitter
41.
GRCh37:
Chr6:49425703
GRCh38:
Chr6:49457990
MUTnot providedPathogenic
(Apr 14, 2017)
criteria provided, single submitter
42.
GRCh37:
Chr6:49425734
GRCh38:
Chr6:49458021
MUTnot specifiedLikely benign
(Jan 31, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr6:49425747
GRCh38:
Chr6:49458034
MUTnot providedLikely pathogenic
(Apr 12, 2017)
criteria provided, single submitter
44.
GRCh37:
Chr6:49425764
GRCh38:
Chr6:49458051
MUTMethylmalonic acidemia, not specifiedConflicting interpretations of pathogenicity
(Jul 27, 2017)
criteria provided, conflicting interpretations
45.
GRCh37:
Chr6:49426806-49426808
GRCh38:
Chr6:49459093-49459095
MUTnot providedLikely pathogenic
(Oct 16, 2013)
criteria provided, single submitter
46.
GRCh37:
Chr6:49426851
GRCh38:
Chr6:49459138
MUTnot providedPathogenic
(Jun 12, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr6:49426867
GRCh38:
Chr6:49459154
MUTMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, METHYLMALONIC ACIDURIA, mut(0) TYPE, not provided
Pathogenic
(Sep 30, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr6:49426868
GRCh38:
Chr6:49459155
MUTnot providedPathogenic
(Jun 25, 2015)
criteria provided, single submitter
49.
GRCh37:
Chr6:49426885
GRCh38:
Chr6:49459172
MUTnot providedLikely pathogenic
(Jul 12, 2017)
criteria provided, single submitter
50.
GRCh37:
Chr6:49426991
GRCh38:
Chr6:49459278
MUTnot specifiedLikely benign
(Feb 12, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr6:49427089
GRCh38:
Chr6:49459376
MUTMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not providedPathogenic
(Dec 1, 2016)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr6:49427195
GRCh38:
Chr6:49459482
MUTnot specifiedLikely benign
(Nov 4, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr6:49427219
GRCh38:
Chr6:49459506
MUTMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not providedPathogenic
(Oct 23, 2017)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr6:48682849-49834213
CRISP1, MUT, PGK2, RHAG, CRISP2, CRISP3, CENPQ, C6orf141, GLYATL3See casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
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