家族性胸部大動脈瘤・解離

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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_004612.4(TGFBR1):c.700T>C (p.Phe234Leu)	TGFBR1	Pathogenic/Likely pathogenic	9	101900266	101900266	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612911
single nucleotide variant	NM_004612.4(TGFBR1):c.696G>C (p.Lys232Asn)	TGFBR1	Likely pathogenic	9	101900262	101900262	G	C	criteria provided, single submitter	ClinGen:CA325117
single nucleotide variant	NM_004612.4(TGFBR1):c.680A>T (p.Glu227Val)	TGFBR1	Likely pathogenic	9	101900246	101900246	A	T	criteria provided, single submitter	ClinGen:CA16618918
single nucleotide variant	NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser)	TGFBR1	Likely pathogenic	9	101900206	101900206	G	A	criteria provided, single submitter	ClinGen:CA374229530
Duplication	NM_004612.4(TGFBR1):c.633_635dup (p.Gly212dup)	TGFBR1	Pathogenic	9	101900198	101900199	T	TTGG	criteria provided, single submitter	ClinGen:CA658797254
single nucleotide variant	NM_004612.4(TGFBR1):c.469C>T (p.Arg157Ter)	TGFBR1	Pathogenic	9	101894916	101894916	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612807
single nucleotide variant	NM_004612.4(TGFBR1):c.230T>G (p.Leu77Ter)	TGFBR1	Pathogenic	9	101891269	101891269	T	G	criteria provided, single submitter	ClinGen:CA374225763
Deletion	NC_000009.12:g.(?_99105186)_(99105322_?)del	TGFBR1	Pathogenic	9	101867468	101867604	na	na	criteria provided, single submitter	-
Deletion	NM_004612.4(TGFBR1):c.71_75del (p.Ala24fs)	TGFBR1	Pathogenic	9	101867557	101867561	GGCGGC	G	criteria provided, single submitter	ClinGen:CA10587680
single nucleotide variant	NM_001613.4(ACTA2):c.46T>C (p.Ser16Pro)	ACTA2	Likely pathogenic	10	90708642	90708642	A	G	criteria provided, single submitter	ClinGen:CA377513755