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_012186.3(FOXE3):c.244A>G (p.Met82Val)	FOXE3	Pathogenic/Likely pathogenic	1	47882231	47882231	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002317.7(LOX):c.893T>G (p.Met298Arg)	LOX	Pathogenic/Likely pathogenic	5	121409850	121409850	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576645,OMIM:153455.0005
single nucleotide variant	NM_002317.7(LOX):c.125G>A (p.Trp42Ter)	LOX	Likely pathogenic	5	121413556	121413556	C	T	criteria provided, single submitter	ClinGen:CA10590102,OMIM:153455.0003
Deletion	NM_002317.7(LOX):c.1131+1_1131+6del	LOX	Pathogenic/Likely pathogenic	5	121406183	121406188	TCTTTAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618096
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_002317.7(LOX):c.604G>T (p.Gly202Ter)	LOX	Pathogenic/Likely pathogenic	5	121413077	121413077	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002317.7(LOX):c.545del (p.Pro182fs)	LOX	Pathogenic/Likely pathogenic	5	121413136	121413136	AG	A	criteria provided, multiple submitters, no conflicts	-
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_002474.3(MYH11):c.4578+1G>T	MYH11	Pathogenic	16	15815278	15815278	C	A	criteria provided, single submitter	OMIM:160745.0001,ClinVar:14131
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