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

Download:

Choose Destination

Search results

Items: 11

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:45794768-45799052
GRCh38:
Chr1:45329096-45333380
MUTYHMYH-associated polyposisPathogenic
(Sep 24, 2015)
no assertion criteria provided
2.
GRCh37:
Chr1:45796891-45796893
GRCh38:
Chr1:45331219-45331221
MUTYHMYH-associated polyposis, not specified, not provided,
Hereditary cancer-predisposing syndrome
GO-ESP:0.00012(-)Pathogenic
(Jan 16, 2017)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr1:45796892
GRCh38:
Chr1:45331220
MUTYHMYH-associated polyposis, not provided, Hereditary cancer-predisposing syndrome
GMAF:0.00180(A)
GO-ESP:0.00010(A)
Pathogenic
(Sep 21, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr1:45796912
GRCh38:
Chr1:45331240
MUTYHMYH-associated polyposisGO-ESP:0.00003(T)Pathogenic
(Oct 4, 2012)
no assertion criteria provided
5.
GRCh37:
Chr1:45797187-45797188
GRCh38:
Chr1:45331515-45331516
MUTYHMYH-associated polyposis, Carcinoma of colon, not provided,
Hereditary cancer-predisposing syndrome
Pathogenic
(Dec 20, 2016)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr1:45797201
GRCh38:
Chr1:45331529
MUTYHMYH-associated polyposis, Carcinoma of colon, not provided,
Hereditary cancer-predisposing syndrome
GMAF:0.00020(A)
GO-ESP:0.00010(A)
Pathogenic
(Jan 9, 2017)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr1:45797228
GRCh38:
Chr1:45331556
MUTYHEndometrial carcinoma, MYH-associated polyposis, Carcinoma of colon,
Neoplasm of stomach, not specified, not provided,
Hereditary cancer-predisposing syndrome
GO-ESP:0.00384(T)
GMAF:0.00240(T)
GO-ESP:0.00280(T)
Pathogenic
(Jan 26, 2017)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr1:45797401
GRCh38:
Chr1:45331729
MUTYHMYH-associated polyposis, not specified, not provided,
Hereditary cancer-predisposing syndrome
GMAF:0.00140(A)
GO-ESP:0.00039(A)
Conflicting interpretations of pathogenicity
(Dec 20, 2016)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr1:45797914
GRCh38:
Chr1:45332242
MUTYHMYH-associated polyposis, not provided, Hereditary cancer-predisposing syndrome
GO-ESP:0.00003(T)Pathogenic/Likely pathogenic
(Feb 11, 2016)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr1:45798475
GRCh38:
Chr1:45332803
MUTYHEndometrial carcinoma, MYH-associated polyposis, Carcinoma of colon,
not specified, not provided, Hereditary cancer-predisposing syndrome
GO-ESP:0.00215(C)
GMAF:0.00020(C)
GO-ESP:0.00162(C)
Pathogenic
(Feb 6, 2017)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr1:45799121
GRCh38:
Chr1:45333449
MUTYHMYH-associated polyposis, Hereditary cancer-predisposing syndromeGMAF:0.00060(A)Pathogenic
(Nov 22, 2016)
criteria provided, multiple submitters, no conflicts
Format
Items per page
Sort by

Download:

Choose Destination
Support Center