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Items: 11

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr4:170398348
GRCh38:
Chr4:169477197
NEK1not providedUncertain significance
(Aug 13, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr7:4830953
GRCh38:
Chr7:4791322
AP5Z1Spastic paraplegia 48, autosomal recessiveLikely benign
(Mar 29, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr7:55249063
GRCh38:
Chr7:55181370
EGFR, EGFR-AS1Lung cancer, not specifiedBenign/Likely benign
(Jan 5, 2017)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr8:141262946
GRCh38:
Chr8:140252847
TRAPPC9not specifiedLikely benign
(Jul 22, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr11:68704309
GRCh38:
Chr11:68936841
IGHMBP2Spinal muscular atrophy, SMA: Spinal muscular atrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr15:43021812
GRCh38:
Chr15:42729614
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr16:15841498
GRCh38:
Chr16:15747641
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Apr 6, 2017)
criteria provided, single submitter
8.
GRCh37:
Chr17:80046696
GRCh38:
Chr17:82088820
FASNEpileptic encephalopathyLikely benign
(Oct 3, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr19:50917109
GRCh38:
Chr19:50413852
POLD1Colorectal cancer 10Likely benign
(Jan 12, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr21:47546090
GRCh38:
Chr21:46126176
COL6A2not specified, not providedConflicting interpretations of pathogenicity
(Jan 16, 2018)
criteria provided, conflicting interpretations
11.
GRCh37:
ChrX:5810948
GRCh38:
ChrX:5892907
NLGN4Xnot specifiedUncertain significance
(Apr 9, 2015)
criteria provided, single submitter
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