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Links from MedGen

Items: 38

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr19:46271600
GRCh38:
Chr19:45768342
LOC107075317, SIX5, DM1-ASR168HBranchiootorenal syndrome 2Uncertain significance
(Nov 8, 2021)		criteria provided, single submitter
2.
GRCh37:
Chr19:46270148
GRCh38:
Chr19:45766890
LOC107075317, SIX5G357SBranchiootorenal syndrome 2Uncertain significance
(May 20, 2021)		criteria provided, single submitter
3.
GRCh37:
Chr19:46270286
GRCh38:
Chr19:45767028
LOC107075317, SIX5P311SBranchiootorenal syndrome 2, Inborn genetic diseasesUncertain significance
(Dec 15, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr19:46269314
GRCh38:
Chr19:45766056
SIX5Branchiootorenal syndrome 2Likely benign
(Dec 14, 2021)		criteria provided, single submitter
5.
GRCh37:
Chr19:46271500
GRCh38:
Chr19:45768242
DM1-AS, LOC107075317, SIX5not provided, Branchiootorenal syndrome 2Likely benign
(Feb 28, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr19:46272088
GRCh38:
Chr19:45768830
DM1-AS, SIX5, LOC107075317not provided, Branchiootorenal syndrome 2Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr19:46269594
GRCh38:
Chr19:45766336
SIX5Branchiootorenal syndrome 2, not providedBenign/Likely benign
(Sep 19, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr19:46269103
GRCh38:
Chr19:45765845
SIX5A626TBranchiootorenal syndrome 2, not providedUncertain significance
(Oct 19, 2021)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr19:46269350
GRCh38:
Chr19:45766092
SIX5not provided, Branchiootorenal syndrome 2Likely benign
(Apr 29, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr19:46271845
GRCh38:
Chr19:45768587
DM1-AS, LOC107075317, SIX5F86LBranchiootorenal syndrome 2, Inborn genetic diseases, not provided
Uncertain significance
(Oct 11, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr19:46269827
GRCh38:
Chr19:45766569
SIX5T464SInborn genetic diseases, not provided, Branchiootorenal syndrome 2
Uncertain significance
(Aug 24, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr19:46269313
GRCh38:
Chr19:45766055
SIX5L556VBranchiootorenal syndrome 2, not providedBenign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr19:46271995
GRCh38:
Chr19:45768737
SIX5, DM1-AS, LOC107075317Branchiootorenal syndrome 2, not providedLikely benign
(May 12, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr19:46271611
GRCh38:
Chr19:45768353
SIX5, LOC107075317, DM1-ASBranchiootorenal syndrome 2, not providedLikely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr19:46271560
GRCh38:
Chr19:45768302
DM1-AS, SIX5, LOC107075317Branchiootorenal syndrome 2, not providedLikely benign
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr19:46269206
GRCh38:
Chr19:45765948
SIX5not provided, Branchiootorenal syndrome 2Benign/Likely benign
(Sep 22, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr19:46270272
GRCh38:
Chr19:45767014
LOC107075317, SIX5C315WBranchiootorenal syndrome 2Uncertain significance
(Jan 25, 2022)		criteria provided, single submitter
18.
GRCh37:
Chr19:46269292
GRCh38:
Chr19:45766034
SIX5L563Fnot provided, Branchiootorenal syndrome 2Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr19:46269177
GRCh38:
Chr19:45765919
SIX5P601LBranchiootorenal syndrome 2, not providedConflicting interpretations of pathogenicity
(Aug 30, 2022)		criteria provided, conflicting interpretations
20.
GRCh37:
Chr19:46269127
GRCh38:
Chr19:45765869
SIX5S618Pnot provided, Branchiootorenal syndrome 2Uncertain significance
(Mar 25, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr19:46271728
GRCh38:
Chr19:45768470
DM1-AS, LOC107075317, SIX5Branchiootorenal syndrome 2, not providedBenign/Likely benign
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr19:46270281
GRCh38:
Chr19:45767023
LOC107075317, SIX5Branchiootorenal syndrome 2, not providedLikely benign
(Jul 9, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr19:46269953
GRCh38:
Chr19:45766695
SIX5Branchiootorenal syndrome 2, not providedLikely benign
(Jun 14, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr19:46270194
GRCh38:
Chr19:45766936
LOC107075317, SIX5not provided, Branchiootorenal syndrome 2Likely benign
(Sep 2, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr19:46270302
GRCh38:
Chr19:45767044
LOC107075317, SIX5Branchiootorenal syndrome 2, not providedLikely benign
(Sep 22, 2021)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr19:46269849
GRCh38:
Chr19:45766591
SIX5Branchiootorenal syndrome 2, not providedLikely benign
(Apr 21, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr19:46269016
GRCh38:
Chr19:45765758
SIX5not provided, Branchiootorenal syndrome 2Benign/Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr19:46270175
GRCh38:
Chr19:45766917
LOC107075317, SIX5Branchiootorenal syndrome 2, not providedBenign/Likely benign
(Oct 3, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr19:46271554
GRCh38:
Chr19:45768296
DM1-AS, LOC107075317, SIX5not provided, Branchiootorenal syndrome 2, not specified
Benign/Likely benign
(Jan 3, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr19:46269755
GRCh38:
Chr19:45766497
SIX5P488Snot specified, not provided, Inborn genetic diseases,
Branchiootorenal syndrome 2		Conflicting interpretations of pathogenicity
(Oct 29, 2022)		criteria provided, conflicting interpretations
31.
GRCh37:
Chr19:46268806
GRCh38:
Chr19:45765548
SIX5not provided, Branchiootorenal syndrome 2Benign/Likely benign
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr19:46268902
GRCh38:
Chr19:45765644
SIX5V693Mnot specified, Branchiootorenal syndrome 2, not provided
Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr19:46269076
GRCh38:
Chr19:45765818
SIX5P635Snot provided, Branchiootorenal syndrome 2, not specified
Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr19:46269956
GRCh38:
Chr19:45766698
SIX5V421IBranchiootorenal syndrome 2Uncertain significancecriteria provided, single submitter
35.
GRCh37:
Chr19:46269324
GRCh38:
Chr19:45766066
SIX5T552Mnot provided, Branchiootorenal syndrome 2Uncertain significance
(Apr 29, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr19:46270124
GRCh38:
Chr19:45766866
LOC107075317, SIX5G365RBranchiootorenal syndrome 2Pathogenic
(Apr 1, 2007)		no assertion criteria provided
37.
GRCh37:
Chr19:46270331
GRCh38:
Chr19:45767073
SIX5, LOC107075317A296Tnot provided, Branchiootorenal syndrome 2Conflicting interpretations of pathogenicity
(Feb 1, 2021)		criteria provided, conflicting interpretations
38.
GRCh37:
Chr19:46271631
GRCh38:
Chr19:45768373
DM1-AS, LOC107075317, SIX5A158Tnot providedUncertain significance
(Oct 14, 2022)		criteria provided, single submitter
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