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Items: 6

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr18:2922044
GRCh38:
Chr18:2922046
LPIN2Majeed syndromePathogenic
(Sep 23, 2008)
no assertion criteria provided
2.
GRCh37:
Chr18:2922171
GRCh38:
Chr18:2922173
LPIN2Majeed syndrome, not providedGO-ESP:0.00001(A)Pathogenic
(Feb 19, 2013)
criteria provided, single submitter
3.
GRCh37:
Chr18:2931393-2931394
GRCh38:
Chr18:2931395-2931396
LPIN2Majeed syndromePathogenic
(Mar 14, 2013)
no assertion criteria provided
4.
GRCh37:
Chr18:2937815
GRCh38:
Chr18:2937817
LPIN2Majeed syndrome, not specifiedGO-ESP:0.00046(A)
GMAF:0.00120(A)
GO-ESP:0.00151(A)
Benign/Likely benign
(Nov 25, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr18:2937867
GRCh38:
Chr18:2937869
LPIN2Majeed syndrome, not specifiedGO-ESP:0.00092(A)
GMAF:0.00160(A)
GO-ESP:0.00114(A)
Conflicting interpretations of pathogenicity, not provided
(Aug 2, 2016)
criteria provided, conflicting interpretations
6.
GRCh37:
Chr18:2951102-2951103
GRCh38:
Chr18:2951104-2951105
LPIN2Majeed syndromePathogenic
(Sep 23, 2008)
no assertion criteria provided
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