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Links from Gene

Items: 13

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:43077825-43634458
GRCh38:
Chr15:42785627-43342260
EPB42, TGM5, LCMT2, CCNDBP1, TMEM62, TGM7, TTBK2, ADAL, UBR1See casesPathogenic
(Dec 3, 2013)
no assertion criteria provided
2.
GRCh37:
Chr15:42858959-44139304
GRCh38:
Chr15:42566761-43847106
See casesLikely pathogenic
(Nov 4, 2011)
no assertion criteria provided
3.
GRCh37:
Chr15:43508460
GRCh38:
Chr15:43216262
EPB42Spherocytosis type 5Pathogenic
(Mar 13, 2014)
no assertion criteria provided
4.
GRCh37:
Chr15:43498537
GRCh38:
Chr15:43206339
EPB42Spherocytosis type 5GMAF:0.00040(T)Pathogenic
(Mar 13, 2014)
no assertion criteria provided
5.
GRCh37:
Chr15:43500946
GRCh38:
Chr15:43208748
EPB42Spherocytosis type 5Pathogenic
(Mar 13, 2014)
no assertion criteria provided
6.
GRCh37:
Chr15:43500947
GRCh38:
Chr15:43208749
EPB42Spherocytosis type 5Pathogenic
(Mar 13, 2014)
no assertion criteria provided
7.
GRCh37:
Chr15:43501474
GRCh38:
Chr15:43209276
EPB42Spherocytosis type 5Pathogenic
(Mar 13, 2014)
no assertion criteria provided
8.
GRCh37:
Chr15:43503730
GRCh38:
Chr15:43211532
EPB42Spherocytosis type 5Pathogenic
(Mar 13, 2014)
no assertion criteria provided
9.
GRCh37:
Chr15:43495435
GRCh38:
Chr15:43203237
EPB42Spherocytosis type 5GMAF:0.00020(G)Pathogenic
(Sep 1, 2002)
no assertion criteria provided
10.
GRCh37:
Chr15:43501471
GRCh38:
Chr15:43209273
EPB42Spherocytosis type 5Pathogenic
(Jul 1, 1995)
no assertion criteria provided
11.
GRCh37:
Chr15:43500967
GRCh38:
Chr15:43208769
EPB42Spherocytosis type 5Pathogenic
(Mar 13, 2014)
no assertion criteria provided
12.
GRCh37:
Chr15:43508487
GRCh38:
Chr15:43216289
EPB42Spherocytosis type 5Pathogenic
(Jan 1, 1995)
no assertion criteria provided
13.
GRCh37:
Chr15:43507389
GRCh38:
Chr15:43215191
EPB42Spherocytosis type 5GMAF:0.00020(T)Pathogenic
(Mar 13, 2014)
no assertion criteria provided
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