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.733G>T (p.Glu245Ter)	TGFBR1	Pathogenic	9	101900299	101900299	G	T	criteria provided, single submitter	ClinGen:CA374229855
single nucleotide variant	NM_004612.4(TGFBR1):c.781G>T (p.Gly261Ter)	TGFBR1	Pathogenic	9	101900347	101900347	G	T	criteria provided, single submitter	ClinGen:CA374230291
Deletion	NC_000016.10:g.(?_15703971)_(15838272_?)del	MYH11	Pathogenic	16	15797828	15932129	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_15823235)_(15838272_?)del	MYH11	Pathogenic	16	15917092	15932129	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_003242.6(TGFBR2):c.1563G>A (p.Trp521Ter)	TGFBR2	Likely pathogenic	3	30732950	30732950	G	A	criteria provided, single submitter	ClinGen:CA351809564
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
single nucleotide variant	NM_002317.7(LOX):c.1035+1G>A	LOX	Pathogenic/Likely pathogenic	5	121409707	121409707	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA360881260
single nucleotide variant	NM_002474.3(MYH11):c.726+1G>A	MYH11	Likely pathogenic	16	15876241	15876241	C	T	criteria provided, single submitter	ClinGen:CA7922844
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
Duplication	NM_004612.4(TGFBR1):c.633_635dup (p.Gly212dup)	TGFBR1	Pathogenic	9	101900198	101900199	T	TTGG	criteria provided, single submitter	ClinGen:CA658797254