S I D E B A R
Format
Items per page
Sort by

Send to:

Choose Destination

Search results

Items: 14

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:50149352
GRCh38:
Chr2:49922214
NRXN1not specified, not providedGO-ESP:0.00123(C)
GMAF:0.00040(C)
Conflicting interpretations of pathogenicity
(Feb 16, 2015)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr2:50280469
GRCh38:
Chr2:50053331
NRXN1not specifiedGO-ESP:0.01438(T)
GMAF:0.01640(T)
Benign/Likely benign
(May 23, 2012)
criteria provided, single submitter
3.
GRCh37:
Chr2:50464065
GRCh38:
Chr2:50236927
NRXN1not specifiedGO-ESP:0.00761(T)
GMAF:0.00540(T)
Benign/Likely benign
(May 18, 2012)
criteria provided, single submitter
4.
GRCh37:
Chr2:50692600
GRCh38:
Chr2:50465462
NRXN1not specified, not providedGO-ESP:0.00016(T)Uncertain significance
(Jul 1, 2014)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr2:50692695
GRCh38:
Chr2:50465557
NRXN1not specifiedGO-ESP:0.00598(A)
GMAF:0.00480(A)
Benign/Likely benign
(May 10, 2012)
criteria provided, single submitter
6.
GRCh37:
Chr2:50699461
GRCh38:
Chr2:50472323
NRXN1not providedGMAF:0.00020(A)Uncertain significance
(Aug 27, 2013)
criteria provided, single submitter
7.
GRCh37:
Chr2:50765412
GRCh38:
Chr2:50538274
NRXN1not specifiedGO-ESP:0.00521(T)
GMAF:0.00220(T)
Benign/Likely benign
(Feb 10, 2015)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr2:50765576
GRCh38:
Chr2:50538438
NRXN1not providedUncertain significance
(Aug 7, 2013)
criteria provided, single submitter
9.
GRCh37:
Chr2:50848338
GRCh38:
Chr2:50621200
NRXN1not specified, not providedGO-ESP:0.00125(A)
GMAF:0.00040(A)
Conflicting interpretations of pathogenicity
(Dec 2, 2014)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr2:50850686
GRCh38:
Chr2:50623548
NRXN1not specifiedGO-ESP:0.01308(A)
GMAF:0.04230(A)
Benign/Likely benign
(Mar 3, 2014)
criteria provided, single submitter
11.
GRCh37:
Chr2:51153089
GRCh38:
Chr2:50925951
NRXN1not providedUncertain significance
(Apr 10, 2013)
criteria provided, single submitter
12.
GRCh37:
Chr2:51253500
GRCh38:
Chr2:51026362
NRXN1not specifiedGO-ESP:0.00728(T)
GMAF:0.01080(T)
Benign/Likely benign
(Jan 25, 2013)
criteria provided, single submitter
13.
GRCh37:
Chr2:51253590
GRCh38:
Chr2:51026452
NRXN1not specified, not providedGMAF:0.00020(T)Uncertain significance
(Sep 18, 2014)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr2:51254901
GRCh38:
Chr2:51027763
NRXN1not specifiedGO-ESP:0.17402(A)
GMAF:0.21310(A)
Benign/Likely benign
(Mar 3, 2015)
criteria provided, single submitter
Format
Items per page
Sort by

Send to:

Choose Destination