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_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_002317.7(LOX):c.604G>T (p.Gly202Ter)	LOX	Pathogenic/Likely pathogenic	5	121413077	121413077	C	A	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.1035+1G>A	LOX	Pathogenic/Likely pathogenic	5	121409707	121409707	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA360881260
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
Deletion	NC_000009.12:g.(?_99105186)_(99221914_?)del	TGFBR1	Pathogenic	9	101867468	101984196	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004612.4(TGFBR1):c.1460G>T (p.Arg487Leu)	TGFBR1	Likely pathogenic	9	101911535	101911535	G	T	criteria provided, single submitter	ClinGen:CA16605939
single nucleotide variant	NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln)	TGFBR1	Pathogenic	9	101911535	101911535	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008776,UniProtKB:P36897#VAR_029484,OMIM:190181.0006
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.1457T>C (p.Leu486Ser)	TGFBR1	Pathogenic/Likely pathogenic	9	101911532	101911532	T	C	criteria provided, multiple submitters, no conflicts	-