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_001613.4(ACTA2):c.353G>A (p.Arg118Gln)	ACTA2	Pathogenic/Likely pathogenic	10	90703570	90703570	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006909,UniProtKB:P62736#VAR_045916
single nucleotide variant	NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)	TGFBR2	Pathogenic/Likely pathogenic	3	30732957	30732957	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020712
single nucleotide variant	NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg)	TGFBR2	Pathogenic/Likely pathogenic	3	30713534	30713534	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020788
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.115C>T (p.Arg39Cys)	ACTA2	Pathogenic/Likely pathogenic	10	90708573	90708573	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006817,OMIM:102620.0005
single nucleotide variant	NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln)	ACTA2	Pathogenic/Likely pathogenic	10	90699437	90699437	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006985,UniProtKB:P62736#VAR_062580
single nucleotide variant	NM_053025.4(MYLK):c.4438C>T (p.Arg1480Ter)	MYLK	Pathogenic/Likely pathogenic	3	123366252	123366252	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA024849,OMIM:600922.0002
single nucleotide variant	NM_001613.4(ACTA2):c.773G>A (p.Arg258His)	ACTA2	Pathogenic/Likely pathogenic	10	90699299	90699299	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007026,UniProtKB:P62736#VAR_045921,OMIM:102620.0002
single nucleotide variant	NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp)	TGFBR1	Pathogenic/Likely pathogenic	9	101911534	101911534	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008768,UniProtKB:P36897#VAR_029485,OMIM:190181.0007
single nucleotide variant	NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)	TGFBR1	Pathogenic/Likely pathogenic	9	101900288	101900288	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008855,UniProtKB:P36897#VAR_029482,OMIM:190181.0005