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

Download:

Choose Destination

Search results

Items: 18

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
NGFCongenital sensory neuropathy with selective loss of small myelinated fibersPathogenic
(Feb 1, 2011)
no assertion criteria provided
2.
GRCh37:
Chr1:115828571
GRCh38:
Chr1:115285950
NGFCongenital sensory neuropathy with selective loss of small myelinated fibersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr1:115828730
GRCh38:
Chr1:115286109
NGFCongenital sensory neuropathy with selective loss of small myelinated fibersGO-ESP:0.00002(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr1:115828756
GRCh38:
Chr1:115286135
NGFCongenital sensory neuropathy with selective loss of small myelinated fibersGO-ESP:0.00008(A)
GO-ESP:0.00003(A)
Pathogenic
(Feb 1, 2011)
no assertion criteria provided
5.
GRCh37:
Chr1:115828855
GRCh38:
Chr1:115286234
NGFnot specifiedGO-ESP:0.00002(T)Uncertain significance
(Apr 7, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr1:115828940
GRCh38:
Chr1:115286319
NGFCongenital sensory neuropathy with selective loss of small myelinated fibersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr1:115828996
GRCh38:
Chr1:115286375
NGFCongenital sensory neuropathy with selective loss of small myelinated fibersGO-ESP:0.00002(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr1:115829082
GRCh38:
Chr1:115286461
NGFCongenital sensory neuropathy with selective loss of small myelinated fibersGMAF:0.00040(C)
GO-ESP:0.00008(C)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr1:115829133
GRCh38:
Chr1:115286512
NGFnot specifiedGMAF:0.00020(T)
GO-ESP:0.00033(T)
Uncertain significance
(Aug 26, 2015)
criteria provided, single submitter
10.
GRCh37:
Chr1:115829170
GRCh38:
Chr1:115286549
NGFnot specifiedGO-ESP:0.00027(A)Uncertain significance
(Jan 9, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr1:115829178
GRCh38:
Chr1:115286557
NGFCongenital sensory neuropathy with selective loss of small myelinated fibersGMAF:0.00460(T)
GO-ESP:0.01079(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr1:115829221
GRCh38:
Chr1:115286600
NGFCongenital sensory neuropathy with selective loss of small myelinated fibersGO-ESP:0.00003(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr1:115829311
GRCh38:
Chr1:115286690
NGFnot specifiedUncertain significance
(Sep 20, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr1:115829313
GRCh38:
Chr1:115286692
NGFCongenital sensory neuropathy with selective loss of small myelinated fibersGMAF:0.24740(A)
GO-ESP:0.36557(A)
Benign
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr1:115829363
GRCh38:
Chr1:115286742
NGFCongenital sensory neuropathy with selective loss of small myelinated fibersGMAF:0.04470(T)
GO-ESP:0.01207(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr1:115836234
GRCh38:
Chr1:115293613
NGFCongenital sensory neuropathy with selective loss of small myelinated fibersGMAF:0.00020(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr1:104868106-120471049
GRCh38:
Chr1:104325484-119977655
See casesPathogenic
(Aug 13, 2012)
no assertion criteria provided
18.
GRCh37:
Chr1:110299252-119192827
GRCh38:
Chr1:109756630-118650204
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination
Support Center