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
single nucleotide variant	NM_002528.7(NTHL1):c.259C>T (p.Gln87Ter)	NTHL1	Pathogenic	16	2096224	2096224	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_002528.7(NTHL1):c.350dup (p.Val119fs)	NTHL1	Pathogenic/Likely pathogenic	16	2096132	2096133	T	TG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.354+2T>C	NTHL1	Likely pathogenic	16	2096127	2096127	A	G	criteria provided, single submitter	-
Duplication	NM_002528.7(NTHL1):c.356_359dup (p.Arg121fs)	NTHL1	Pathogenic	16	2094796	2094797	G	GCGTA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.366C>A (p.Tyr122Ter)	NTHL1	Pathogenic	16	2094790	2094790	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.366C>G (p.Tyr122Ter)	NTHL1	Pathogenic	16	2094790	2094790	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.409C>T (p.Gln137Ter)	NTHL1	Pathogenic	16	2094747	2094747	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter)	NTHL1	Pathogenic/Likely pathogenic	16	2094723	2094723	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002528.7(NTHL1):c.460del (p.Asp154fs)	NTHL1	Pathogenic	16	2094696	2094696	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.472C>T (p.Gln158Ter)	NTHL1	Pathogenic	16	2094684	2094684	G	A	criteria provided, multiple submitters, no conflicts	-