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_003242.6(TGFBR2):c.1546_1557del (p.Thr516_Glu519del)	TGFBR2	Likely pathogenic	3	30732933	30732944	GTGAGACGTTGAC	G	criteria provided, single submitter	ClinGen:CA10575669
single nucleotide variant	NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr)	TGFBR2	Likely pathogenic	3	30715724	30715724	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020670
single nucleotide variant	NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter)	TGFBR2	Likely pathogenic	3	30729974	30729974	G	T	criteria provided, single submitter	ClinGen:CA020693
single nucleotide variant	NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg)	TGFBR2	Likely pathogenic	3	30732927	30732927	T	C	criteria provided, single submitter	ClinGen:CA020708,UniProtKB:P37173#VAR_066730
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_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)	TGFBR2	Pathogenic	3	30729962	30729962	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020690,OMIM:190182.0019
single nucleotide variant	NM_003242.6(TGFBR2):c.1273A>G (p.Met425Val)	TGFBR2	Pathogenic	3	30715615	30715615	A	G	criteria provided, single submitter	ClinGen:CA020640,OMIM:190182.0017
single nucleotide variant	NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His)	TGFBR2	Pathogenic	3	30715721	30715721	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020664,UniProtKB:P37173#VAR_029761,OMIM:190182.0015
single nucleotide variant	NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys)	TGFBR2	Pathogenic	3	30715720	30715720	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020661,UniProtKB:P37173#VAR_029760,OMIM:190182.0014
single nucleotide variant	NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys)	TGFBR2	Pathogenic	3	30732969	30732969	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020726,UniProtKB:P37173#VAR_022360,OMIM:190182.0012