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
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
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
single nucleotide variant	NM_002474.3(MYH11):c.1619G>A (p.Trp540Ter)	MYH11	Likely pathogenic	16	15850328	15850328	C	T	criteria provided, single submitter	ClinGen:CA306495
single nucleotide variant	NM_002474.3(MYH11):c.4401C>G (p.Tyr1467Ter)	MYH11	Pathogenic	16	15815456	15815456	G	C	criteria provided, single submitter	-
Duplication	NM_002474.3(MYH11):c.4578+2dup	MYH11	Pathogenic/Likely pathogenic	16	15815276	15815277	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA306672
single nucleotide variant	NM_002474.3(MYH11):c.4578+1G>T	MYH11	Pathogenic	16	15815278	15815278	C	A	criteria provided, single submitter	OMIM:160745.0001,ClinVar:14131
single nucleotide variant	NM_003480.4(MFAP5):c.472C>T (p.Arg158Ter)	MFAP5	Pathogenic/Likely pathogenic	12	8800737	8800737	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA295245,OMIM:601103.0001
single nucleotide variant	NM_001613.4(ACTA2):c.138G>T (p.Met46Ile)	ACTA2	Pathogenic/Likely pathogenic	10	90707135	90707135	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001613.4(ACTA2):c.991-1del	ACTA2	Likely pathogenic	10	90695124	90695124	TC	T	criteria provided, single submitter	-
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