若年性ポリポーシス症候群

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_005359.6(SMAD4):c.1081C>A (p.Arg361Ser)	SMAD4	Likely pathogenic	18	48591918	48591918	C	A	criteria provided, single submitter	ClinGen:CA259197
single nucleotide variant	NM_005359.6(SMAD4):c.989A>G (p.Glu330Gly)	SMAD4	Likely pathogenic	18	48591826	48591826	A	G	criteria provided, single submitter	ClinGen:CA165407,UniProtKB:Q13485#VAR_022833,UniProtKB/Swiss-Prot:VAR_022833
Deletion	NM_005359.6(SMAD4):c.1037del (p.Pro346fs)	SMAD4	Pathogenic	18	48591872	48591872	GC	G	criteria provided, single submitter	ClinGen:CA259200
single nucleotide variant	NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg)	SMAD4	Pathogenic/Likely pathogenic	18	48591891	48591891	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA128090,UniProtKB:Q13485#VAR_019571,UniProtKB/Swiss-Prot:VAR_019571,OMIM:600993.0011
single nucleotide variant	NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly)	SMAD4	Pathogenic	18	48591918	48591918	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA128092
single nucleotide variant	NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)	SMAD4	Pathogenic	18	48591919	48591919	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA128097,UniProtKB:Q13485#VAR_036477
Deletion	NM_005359.6(SMAD4):c.1088_1090del (p.Cys363del)	SMAD4	Likely pathogenic	18	48591923	48591925	TTTG	T	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1091T>G (p.Leu364Trp)	SMAD4	Likely pathogenic	18	48591928	48591928	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1139+1G>A	SMAD4	Likely pathogenic	18	48591977	48591977	G	A	criteria provided, single submitter	-
Deletion	NM_005359.6(SMAD4):c.1242del (p.Asp415fs)	SMAD4	Pathogenic	18	48593491	48593491	TA	T	criteria provided, single submitter	ClinGen:CA259233