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Links from MedGen

Items: 66

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:93523926
GRCh38:
Chr11:93790760
MED17K202*Infantile cerebral and cerebellar atrophy with postnatal progressive microcephalyLikely pathogeniccriteria provided, single submitter
2.
GRCh37:
Chr11:93545021
GRCh38:
Chr11:93811855
MED17R583CInfantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr11:93526986
GRCh38:
Chr11:93793820
MED17D244NInfantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(Dec 21, 2021)
criteria provided, single submitter
4.
GRCh37:
Chr11:93528104
GRCh38:
Chr11:93794938
MED17A297GInfantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(Nov 9, 2021)
criteria provided, single submitter
5.
GRCh37:
Chr11:93530901
GRCh38:
Chr11:93797735
MED17not provided, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephalyLikely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr11:93527014
GRCh38:
Chr11:93793848
MED17G253AInfantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(May 7, 2020)
criteria provided, single submitter
7.
GRCh37:
Chr11:93523812
GRCh38:
Chr11:93790646
MED17A164TInfantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(Aug 29, 2023)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr11:93521405
GRCh38:
Chr11:93788239
MED17not provided, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephalyBenign
(Jul 10, 2021)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr11:93535032
GRCh38:
Chr11:93801866
MED17R454*not provided, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephalyPathogenic/Likely pathogenic
(Dec 18, 2021)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr11:93523887
GRCh38:
Chr11:93790721
MED17R189*Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, not providedPathogenic/Likely pathogenic
(Aug 24, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr11:93521218
GRCh38:
Chr11:93788052
MED17N101Snot provided, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr11:93530855
GRCh38:
Chr11:93797689
MED17K433IInfantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(Jan 17, 2019)
criteria provided, single submitter
13.
GRCh37:
Chr11:93545124
GRCh38:
Chr11:93811958
MED17H617RInfantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(Sep 4, 2020)
no assertion criteria provided
14.
GRCh37:
Chr11:93545030
GRCh38:
Chr11:93811864
MED17P586SInfantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(Sep 4, 2020)
no assertion criteria provided
15.
GRCh37:
Chr11:93543045
GRCh38:
Chr11:93809879
MED17Infantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(Apr 17, 2020)
no assertion criteria provided
16.
GRCh37:
Chr11:93535119
GRCh38:
Chr11:93801953
MED17G483SInfantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(Sep 4, 2020)
no assertion criteria provided
17.
GRCh37:
Chr11:93535077
GRCh38:
Chr11:93801911
MED17D469Ynot providedLikely benign
(Nov 2, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr11:93535052
GRCh38:
Chr11:93801886
MED17I460MInfantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(Apr 17, 2020)
no assertion criteria provided
19.
GRCh37:
Chr11:93530839
GRCh38:
Chr11:93797673
MED17Infantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(Apr 17, 2020)
no assertion criteria provided
20.
GRCh37:
Chr11:93530780
GRCh38:
Chr11:93797614
MED17S408WInfantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(Jul 18, 2019)
criteria provided, single submitter
21.
GRCh37:
Chr11:93529662
GRCh38:
Chr11:93796496
MED17H367DInfantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(Apr 17, 2020)
no assertion criteria provided
22.
GRCh37:
Chr11:93528105
GRCh38:
Chr11:93794939
MED17not providedLikely benign
(Sep 17, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr11:93527206
GRCh38:
Chr11:93794040
MED17Infantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(Aug 17, 2020)
no assertion criteria provided
24.
GRCh37:
Chr11:93527017
GRCh38:
Chr11:93793851
MED17S254Cnot provided, Inborn genetic diseases, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Conflicting interpretations of pathogenicity
(Aug 2, 2023)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr11:93523888
GRCh38:
Chr11:93790722
MED17R189QInfantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(Apr 17, 2020)
no assertion criteria provided
26.
GRCh37:
Chr11:93521270
GRCh38:
Chr11:93788104
MED17not providedLikely benign
(Aug 27, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr11:93521241
GRCh38:
Chr11:93788075
MED17M109Lnot provided, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr11:93517912
GRCh38:
Chr11:93784746
LOC130006596, MED17D78Gnot provided, Inborn genetic diseasesUncertain significance
(Apr 13, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr11:93517891
GRCh38:
Chr11:93784725
LOC130006596, MED17P71LInfantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(Aug 13, 2020)
no assertion criteria provided
30.
GRCh37:
Chr11:93517687
GRCh38:
Chr11:93784521
LOC112136095, MED17G3VInborn genetic diseasesUncertain significance
(Nov 23, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr11:93517677
GRCh38:
Chr11:93784511
LOC112136095, MED17Infantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(Apr 17, 2020)
no assertion criteria provided
32.
GRCh37:
Chr11:93517670
GRCh38:
Chr11:93784504
LOC112136095, MED17Infantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(Apr 17, 2020)
no assertion criteria provided
33.
GRCh37:
Chr11:93545201
GRCh38:
Chr11:93812035
MED17M643Vnot provided, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Intellectual disability
Uncertain significance
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr11:93535105
GRCh38:
Chr11:93801939
MED17L478*Infantile cerebral and cerebellar atrophy with postnatal progressive microcephalyLikely pathogenic
(Aug 14, 2019)
criteria provided, single submitter
35.
GRCh37:
Chr11:93530854-93530857
GRCh38:
Chr11:93797688-93797691
MED17A435fsnot provided, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephalyPathogenic/Likely pathogenic
(Aug 30, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr11:93545142
GRCh38:
Chr11:93811976
MED17K623Rnot providedLikely benign
(Nov 1, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr11:93528225
GRCh38:
Chr11:93795059
MED17not providedBenign
(Nov 1, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr11:93523769
GRCh38:
Chr11:93790603
MED17not providedLikely benign
(Sep 26, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr11:93540771
GRCh38:
Chr11:93807605
MED17not providedLikely benign
(Oct 13, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr11:93529695
GRCh38:
Chr11:93796529
MED17not providedLikely benign
(Feb 11, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr11:93517898
GRCh38:
Chr11:93784732
LOC130006596, MED17not providedLikely benign
(Oct 27, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr11:93523751
GRCh38:
Chr11:93790585
MED17not providedBenign
(Nov 2, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr11:93517936
GRCh38:
Chr11:93784770
MED17, LOC130006596not providedBenign
(Oct 23, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr11:93517880
GRCh38:
Chr11:93784714
LOC130006596, MED17not providedLikely benign
(Oct 27, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr11:93517882
GRCh38:
Chr11:93784716
LOC130006596, MED17Q68PInborn genetic diseases, not providedBenign/Likely benign
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr11:93517903
GRCh38:
Chr11:93784737
LOC130006596, MED17S75CInborn genetic diseases, not providedBenign/Likely benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr11:93542895
GRCh38:
Chr11:93809729
MED17Q533*not provided, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephalyConflicting interpretations of pathogenicity
(Jun 8, 2022)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr11:93545172
GRCh38:
Chr11:93812006
MED17R633QInfantile cerebral and cerebellar atrophy with postnatal progressive microcephalyUncertain significance
(May 3, 2020)
criteria provided, single submitter
49.
GRCh37:
Chr11:93534990
GRCh38:
Chr11:93801824
MED17Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, not providedBenign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr11:93527219
GRCh38:
Chr11:93794053
MED17Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, not providedBenign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr11:93526946
GRCh38:
Chr11:93793780
MED17not specified, not providedConflicting interpretations of pathogenicity
(Oct 31, 2022)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr11:93540717
GRCh38:
Chr11:93807551
MED17not provided, not specified, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Benign/Likely benign
(Oct 23, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr11:93535121
GRCh38:
Chr11:93801955
MED17Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, not specified, not provided
Uncertain significance
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr11:93528192
GRCh38:
Chr11:93795026
MED17not provided, not specifiedBenign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr11:93523893
GRCh38:
Chr11:93790727
MED17R191WInfantile cerebral and cerebellar atrophy with postnatal progressive microcephalyLikely pathogenic
(Dec 3, 2013)
criteria provided, single submitter
56.
GRCh37:
Chr11:93523838
GRCh38:
Chr11:93790672
MED17not providedBenign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr11:93521258
GRCh38:
Chr11:93788092
MED17not providedBenign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr11:93521159
GRCh38:
Chr11:93787993
MED17Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, not providedBenign/Likely benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr11:93517886
GRCh38:
Chr11:93784720
MED17, LOC130006596E69Dnot specified, not provided, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr11:93517874
GRCh38:
Chr11:93784708
LOC130006596, MED17not specified, not provided, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr11:93540765
GRCh38:
Chr11:93807599
MED17not providedBenign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr11:93530817
GRCh38:
Chr11:93797651
MED17not specified, not providedBenign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr11:93529655
GRCh38:
Chr11:93796489
MED17not provided, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephalyBenign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr11:93529634
GRCh38:
Chr11:93796468
MED17F357Lnot providedConflicting interpretations of pathogenicity
(Oct 31, 2022)
criteria provided, conflicting interpretations
65.
GRCh37:
Chr11:93540699
GRCh38:
Chr11:93807533
MED17Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, not specified, not provided
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr11:93529675
GRCh38:
Chr11:93796509
MED17L371Pnot provided, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephalyPathogenic/Likely pathogenic
(May 20, 2022)
criteria provided, multiple submitters, no conflicts
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