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_002474.3(MYH11):c.868G>C (p.Gly290Arg)	MYH11	Likely pathogenic	16	15869956	15869956	C	G	criteria provided, single submitter	ClinGen:CA306647
Deletion	NM_002474.3(MYH11):c.3422_3470del (p.Lys1141fs)	MYH11	Pathogenic	16	15829259	15829307	GTCTTCCAGCTCTGTCTTTAGGGCCTCCAGCTCCTCGCCGAGGTCTCGCT	G	criteria provided, single submitter	ClinGen:CA277406,OMIM:160745.0008
Deletion	NM_002474.3(MYH11):c.2809_2810del (p.Arg937fs)	MYH11	Pathogenic	16	15835369	15835370	CCT	C	criteria provided, single submitter	ClinGen:CA277177,OMIM:160745.0007
single nucleotide variant	NM_003242.6(TGFBR2):c.998T>A (p.Leu333Gln)	TGFBR2	Likely pathogenic	3	30713673	30713673	T	A	criteria provided, single submitter	ClinGen:CA324102
single nucleotide variant	NM_003242.6(TGFBR2):c.1120C>T (p.Pro374Ser)	TGFBR2	Likely pathogenic	3	30713795	30713795	C	T	criteria provided, single submitter	ClinGen:CA320627
single nucleotide variant	NM_003242.6(TGFBR2):c.1255G>T (p.Val419Leu)	TGFBR2	Likely pathogenic	3	30715597	30715597	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA322630
single nucleotide variant	NM_003242.6(TGFBR2):c.1256T>A (p.Val419Glu)	TGFBR2	Likely pathogenic	3	30715598	30715598	T	A	criteria provided, single submitter	ClinGen:CA324927
single nucleotide variant	NM_003242.6(TGFBR2):c.1276G>A (p.Ala426Thr)	TGFBR2	Pathogenic	3	30715618	30715618	G	A	criteria provided, single submitter	ClinGen:CA321583
single nucleotide variant	NM_003242.6(TGFBR2):c.1277C>A (p.Ala426Asp)	TGFBR2	Pathogenic	3	30715619	30715619	C	A	criteria provided, single submitter	ClinGen:CA323900
single nucleotide variant	NM_003242.6(TGFBR2):c.1279C>T (p.Pro427Ser)	TGFBR2	Likely pathogenic	3	30715621	30715621	C	T	criteria provided, single submitter	ClinGen:CA319801