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.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_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.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	-
single nucleotide variant	NM_005359.6(SMAD4):c.1529G>T (p.Gly510Val)	SMAD4	Likely pathogenic	18	48604707	48604707	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1598T>C (p.Leu533Pro)	SMAD4	Likely pathogenic	18	48604776	48604776	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_004329.3(BMPR1A):c.1474-2A>G	BMPR1A	Likely pathogenic	10	88683349	88683349	A	G	criteria provided, single submitter	ClinGen:CA164082
single nucleotide variant	NM_005359.6(SMAD4):c.1308+1G>T	SMAD4	Likely pathogenic	18	48593558	48593558	G	T	criteria provided, single submitter	ClinGen:CA164956