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_004329.3(BMPR1A):c.812G>A (p.Trp271Ter)	BMPR1A	Pathogenic	10	88677027	88677027	G	A	criteria provided, single submitter	ClinGen:CA254358,OMIM:601299.0003
single nucleotide variant	NM_004329.3(BMPR1A):c.1013C>A (p.Ala338Asp)	BMPR1A	Likely pathogenic	10	88679073	88679073	C	A	criteria provided, single submitter	ClinGen:CA254361,UniProtKB:P36894#VAR_015534,OMIM:601299.0005
single nucleotide variant	NM_004329.3(BMPR1A):c.370T>C (p.Cys124Arg)	BMPR1A	Pathogenic/Likely pathogenic	10	88659587	88659587	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA194624,UniProtKB:P36894#VAR_015533,OMIM:601299.0006
single nucleotide variant	NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys)	SMAD4	Pathogenic	18	48591918	48591918	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA128095,UniProtKB:Q13485#VAR_019572,UniProtKB/Swiss-Prot:VAR_019572,OMIM:600993.0008
single nucleotide variant	NM_005359.6(SMAD4):c.1162C>T (p.Gln388Ter)	SMAD4	Pathogenic	18	48593411	48593411	C	T	criteria provided, single submitter	ClinGen:CA342589
single nucleotide variant	NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter)	SMAD4	Pathogenic	18	48575209	48575209	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA259169
single nucleotide variant	NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter)	SMAD4	Pathogenic/Likely pathogenic	18	48581229	48581229	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA259180
single nucleotide variant	NM_005359.6(SMAD4):c.538C>T (p.Gln180Ter)	SMAD4	Pathogenic	18	48581234	48581234	C	T	criteria provided, single submitter	-
Duplication	NM_005359.6(SMAD4):c.692dup (p.Ser232fs)	SMAD4	Pathogenic	18	48584513	48584514	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA259187,OMIM:600993.0007
Insertion	NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs)	SMAD4	Pathogenic	18	48584558	48584559	G	GCCGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA259188