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_053025.4(MYLK):c.4415+1G>A	MYLK	Likely pathogenic	3	123367817	123367817	C	T	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_99105186)_(99221914_?)del	TGFBR1	Pathogenic	9	101867468	101984196	na	na	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_99137839)_(99138109_?)del	TGFBR1	Likely pathogenic	9	101900121	101900391	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004612.4(TGFBR1):c.860C>A (p.Ser287Tyr)	TGFBR1	Likely pathogenic	9	101904872	101904872	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_002474.3(MYH11):c.4578+1G>C	MYH11	Pathogenic/Likely pathogenic	16	15815278	15815278	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002474.3(MYH11):c.5027_5028del (p.Lys1676fs)	MYH11	Pathogenic	16	15813496	15813497	CTT	C	criteria provided, single submitter	-
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_003242.6(TGFBR2):c.757G>A (p.Gly253Ser)	TGFBR2	Likely pathogenic	3	30713432	30713432	G	A	criteria provided, single submitter	-
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_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser)	TGFBR1	Pathogenic/Likely pathogenic	9	101911532	101911532	T	C	criteria provided, multiple submitters, no conflicts	-