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Items: 29

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:52301439
GRCh38:
Chr12:51907655
ACVRL1not specifiedGMAF:0.00920(G)Benign
(Jun 24, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr12:52306221
GRCh38:
Chr12:51912437
ACVRL1not specifiedGMAF:0.06410(T)
GO-ESP:0.08605(T)
Benign
(Oct 22, 2013)
criteria provided, single submitter
3.
GRCh37:
Chr12:52306961
GRCh38:
Chr12:51913177
ACVRL1not specifiedUncertain significance
(Dec 22, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr12:52306966
GRCh38:
Chr12:51913182
ACVRL1not providedPathogenic
(Nov 23, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr12:52306973
GRCh38:
Chr12:51913189
ACVRL1not providedPathogenic
(Apr 14, 2015)
criteria provided, single submitter
6.
GRCh37:
Chr12:52307021
GRCh38:
Chr12:51913237
ACVRL1not providedPathogenic
(May 12, 2015)
criteria provided, single submitter
7.
GRCh37:
Chr12:52307090
GRCh38:
Chr12:51913306
ACVRL1not providedPathogenic
(Mar 11, 2015)
criteria provided, single submitter
8.
GRCh37:
Chr12:52307145
GRCh38:
Chr12:51913361
ACVRL1Osler hemorrhagic telangiectasia syndrome, not specifiedGMAF:0.43110(T)
GO-ESP:0.42633(T)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr12:52307359
GRCh38:
Chr12:51913575
ACVRL1Osler hemorrhagic telangiectasia syndrome, not specifiedGMAF:0.01320(A)
GO-ESP:0.00608(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr12:52307405
GRCh38:
Chr12:51913621
ACVRL1not specifiedUncertain significance
(Mar 24, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr12:52307435-52307438
GRCh38:
Chr12:51913651-51913654
ACVRL1not providedPathogenic
(Dec 7, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr12:52308279
GRCh38:
Chr12:51914495
ACVRL1not providedGO-ESP:0.00002(A)Likely pathogenic
(Jun 4, 2015)
criteria provided, single submitter
13.
GRCh37:
Chr12:52308344
GRCh38:
Chr12:51914560
ACVRL1Osler hemorrhagic telangiectasia syndrome, not specifiedGMAF:0.04610(A)
GO-ESP:0.01443(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr12:52308375
GRCh38:
Chr12:51914591
ACVRL1not specifiedLikely benign
(Aug 30, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr12:52309156
GRCh38:
Chr12:51915372
ACVRL1not providedLikely pathogenic
(Mar 25, 2015)
criteria provided, single submitter
16.
GRCh37:
Chr12:52309222
GRCh38:
Chr12:51915438
ACVRL1not providedPathogenic
(May 7, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr12:52309234
GRCh38:
Chr12:51915450
ACVRL1not providedPathogenic
(Jun 11, 2014)
criteria provided, single submitter
18.
GRCh37:
Chr12:52309267-52309268
GRCh38:
Chr12:51915483-51915484
ACVRL1not providedPathogenic
(Mar 9, 2015)
criteria provided, single submitter
19.
GRCh37:
Chr12:52309891
GRCh38:
Chr12:51916107
ACVRL1Hereditary hemorrhagic telangiectasia type 2, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, not provided
Pathogenic
(Sep 7, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr12:52309893
GRCh38:
Chr12:51916109
ACVRL1not providedPathogenic
(Apr 9, 2014)
criteria provided, single submitter
21.
GRCh37:
Chr12:52309990
GRCh38:
Chr12:51916206
ACVRL1not specifiedUncertain significance
(Dec 3, 2015)
criteria provided, single submitter
22.
GRCh37:
Chr12:52310002
GRCh38:
Chr12:51916218
ACVRL1Hereditary hemorrhagic telangiectasia type 2, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, not provided
Pathogenic
(Feb 12, 2015)
criteria provided, single submitter
23.
GRCh37:
Chr12:52312754
GRCh38:
Chr12:51918970
ACVRL1not specifiedLikely benign
(Dec 15, 2015)
criteria provided, single submitter
24.
GRCh37:
Chr12:52312870
GRCh38:
Chr12:51919086
ACVRL1not specifiedGO-ESP:0.00030(G)Uncertain significance
(Nov 29, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr12:52312900
GRCh38:
Chr12:51919116
ACVRL1not providedPathogenic
(Apr 22, 2015)
criteria provided, single submitter
26.
GRCh37:
Chr12:52314600
GRCh38:
Chr12:51920816
ACVRL1not providedPathogenic
(Dec 1, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr12:52314610
GRCh38:
Chr12:51920826
ACVRL1not specified, Haemorrhagic telangiectasia 2GMAF:0.00020(T)
GO-ESP:0.00167(T)
Conflicting interpretations of pathogenicity
(Nov 18, 2014)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr12:52314616
GRCh38:
Chr12:51920832
ACVRL1Pulmonary hypertension, Epistaxis, not provided
Pathogenic
(Nov 24, 2015)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr12:52314631
GRCh38:
Chr12:51920847
ACVRL1not specifiedUncertain significance
(Oct 11, 2016)
criteria provided, single submitter
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