家族性大腸腺腫症

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_002528.7(NTHL1):c.795del (p.Glu265fs)	NTHL1	Likely pathogenic	16	2090045	2090045	GC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.685+1G>A	NTHL1	Pathogenic/Likely pathogenic	16	2093567	2093567	C	T	criteria provided, multiple submitters, no conflicts	OMIM:602656.0002,ClinGen:CA210446
single nucleotide variant	NM_001048174.2(MUTYH):c.264+1G>A	MUTYH	Likely pathogenic	1	45799084	45799084	C	T	criteria provided, single submitter	-
Deletion	NM_001048174.2(MUTYH):c.1393-2_1393-1del	MUTYH	Likely pathogenic	1	45796230	45796231	CCT	C	criteria provided, multiple submitters, no conflicts	-
Indel	NM_001048174.2(MUTYH):c.-6-95_42delinsC	MUTYH	Pathogenic	1	45800136	45800278	CTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCAT	G	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_45329296)_(45333334_?)del	MUTYH	Pathogenic	1	45794968	45799006	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001048174.2(MUTYH):c.1A>G (p.Met1Val)	MUTYH	Pathogenic/Likely pathogenic	1	45800177	45800177	T	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001048174.2(MUTYH):c.192dup (p.Val65fs)	MUTYH	Pathogenic	1	45799156	45799157	C	CT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001048174.2(MUTYH):c.549_576del (p.Leu184fs)	MUTYH	Pathogenic	1	45798276	45798303	CAGCTGTGTAGCGCCCCACGCCAGGCAGG	C	criteria provided, single submitter	-
single nucleotide variant	NM_001048174.2(MUTYH):c.704G>A (p.Trp235Ter)	MUTYH	Pathogenic	1	45798063	45798063	C	T	criteria provided, single submitter	-