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.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	-
single nucleotide variant	NM_002528.7(NTHL1):c.604G>T (p.Glu202Ter)	NTHL1	Pathogenic	16	2093649	2093649	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter)	NTHL1	Likely pathogenic	16	2090143	2090143	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)	NTHL1	Pathogenic/Likely pathogenic	16	2090005	2090005	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002528.7(NTHL1):c.203del (p.Gly68fs)	NTHL1	Pathogenic/Likely pathogenic	16	2096280	2096280	AC	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_002528.7(NTHL1):c.211dup (p.Ala71fs)	NTHL1	Pathogenic/Likely pathogenic	16	2096271	2096272	G	GC	criteria provided, multiple submitters, no conflicts	-