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_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
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_002474.3(MYH11):c.4825C>T (p.Arg1609Ter)	MYH11	Likely pathogenic	16	15814136	15814136	G	A	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_002474.3(MYH11):c.4578+1G>A	MYH11	Pathogenic/Likely pathogenic	16	15815278	15815278	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043053
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	-
single nucleotide variant	NM_002474.3(MYH11):c.4401C>G (p.Tyr1467Ter)	MYH11	Pathogenic	16	15815456	15815456	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_002474.3(MYH11):c.4360G>C (p.Asp1454His)	MYH11	Likely pathogenic	16	15818023	15818023	C	G	criteria provided, single submitter	ClinGen:CA16043500
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