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Items: 32

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:220324715
GRCh38:
Chr1:220151373
RAB3GAP2not specifiedConflicting interpretations of pathogenicity
(Feb 20, 2017)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr1:220324949
GRCh38:
Chr1:220151607
RAB3GAP2not specifiedUncertain significance
(Jun 10, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr1:220324983
GRCh38:
Chr1:220151641
RAB3GAP2Martsolf syndrome, not specified, Warburg micro syndrome
Conflicting interpretations of pathogenicity
(Feb 20, 2017)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr1:220325004-220325006
GRCh38:
Chr1:220151662-220151664
RAB3GAP2not specifiedUncertain significance
(Oct 28, 2015)
criteria provided, single submitter
5.
GRCh37:
Chr1:220325030
GRCh38:
Chr1:220151688
RAB3GAP2not specifiedUncertain significance
(Dec 3, 2015)
criteria provided, single submitter
6.
GRCh37:
Chr1:220325050
GRCh38:
Chr1:220151708
RAB3GAP2not specifiedBenign
(Dec 3, 2015)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr1:220326576
GRCh38:
Chr1:220153234
RAB3GAP2not specifiedUncertain significance
(Sep 20, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr1:220330642
GRCh38:
Chr1:220157300
RAB3GAP2not specifiedUncertain significance
(Jul 24, 2014)
criteria provided, single submitter
9.
GRCh37:
Chr1:220330672
GRCh38:
Chr1:220157330
RAB3GAP2Martsolf syndrome, not specified, Warburg micro syndrome
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr1:220330777
GRCh38:
Chr1:220157435
RAB3GAP2Martsolf syndrome, not specified, Warburg micro syndrome
Conflicting interpretations of pathogenicity
(Mar 29, 2017)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr1:220331205
GRCh38:
Chr1:220157863
RAB3GAP2Martsolf syndrome, not specified, Warburg micro syndrome
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr1:220340694
GRCh38:
Chr1:220167352
RAB3GAP2not specifiedUncertain significance
(Mar 23, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr1:220344392
GRCh38:
Chr1:220171050
RAB3GAP2not specifiedUncertain significance
(Apr 15, 2015)
criteria provided, single submitter
14.
GRCh37:
Chr1:220344453
GRCh38:
Chr1:220171111
RAB3GAP2Martsolf syndrome, not specified, Warburg micro syndrome
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr1:220345286
GRCh38:
Chr1:220171944
RAB3GAP2not specifiedUncertain significance
(May 6, 2014)
criteria provided, single submitter
16.
GRCh37:
Chr1:220355605
GRCh38:
Chr1:220182263
RAB3GAP2Martsolf syndrome, not specified, Warburg micro syndrome
Conflicting interpretations of pathogenicity
(Feb 8, 2017)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr1:220355619
GRCh38:
Chr1:220182277
RAB3GAP2Martsolf syndrome, not specified, Warburg micro syndrome,
not provided
Uncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr1:220355640
GRCh38:
Chr1:220182298
RAB3GAP2not specifiedUncertain significance
(Jan 7, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr1:220356065
GRCh38:
Chr1:220182723
RAB3GAP2Warburg micro syndrome 2Pathogenic
(May 24, 2017)
criteria provided, single submitter
20.
GRCh37:
Chr1:220356184
GRCh38:
Chr1:220182842
RAB3GAP2Martsolf syndrome, not specified, Warburg micro syndrome
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr1:220356264
GRCh38:
Chr1:220182922
RAB3GAP2Martsolf syndrome, not specified, Warburg micro syndrome
Conflicting interpretations of pathogenicity
(Dec 14, 2016)
criteria provided, conflicting interpretations
22.
GRCh37:
Chr1:220359071
GRCh38:
Chr1:220185729
RAB3GAP2not providedUncertain significance
(Feb 17, 2014)
criteria provided, single submitter
23.
GRCh37:
Chr1:220363038
GRCh38:
Chr1:220189696
RAB3GAP2not specifiedBenign/Likely benign
(Jan 27, 2016)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr1:220363463
GRCh38:
Chr1:220190121
RAB3GAP2not specifiedUncertain significance
(May 1, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr1:220363711
GRCh38:
Chr1:220190369
RAB3GAP2not specifiedUncertain significance
(Aug 26, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr1:220364491
GRCh38:
Chr1:220191149
RAB3GAP2not specifiedUncertain significance
(Feb 27, 2017)
criteria provided, single submitter
27.
GRCh37:
Chr1:220368650
GRCh38:
Chr1:220195308
RAB3GAP2not specifiedUncertain significance
(Aug 11, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr1:220369614
GRCh38:
Chr1:220196272
RAB3GAP2not specifiedLikely benignno assertion criteria provided
29.
GRCh37:
Chr1:220375655
GRCh38:
Chr1:220202313
RAB3GAP2not providedUncertain significance
(Dec 18, 2012)
criteria provided, single submitter
30.
GRCh37:
Chr1:220379306
GRCh38:
Chr1:220205964
RAB3GAP2not specifiedUncertain significance
(Feb 11, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr1:220384149
GRCh38:
Chr1:220210807
RAB3GAP2not specifiedUncertain significance
(Aug 12, 2014)
criteria provided, single submitter
32.
GRCh37:
Chr1:220384188
GRCh38:
Chr1:220210846
RAB3GAP2not specifiedLikely benign
(Oct 28, 2016)
criteria provided, multiple submitters, no conflicts
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