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_053025.4(MYLK):c.3265_3266del (p.Lys1089fs)	MYLK	Pathogenic	3	123419049	123419050	CTT	C	criteria provided, single submitter	ClinGen:CA658657332
single nucleotide variant	NM_053025.4(MYLK):c.3823C>T (p.Arg1275Ter)	MYLK	Pathogenic	3	123385074	123385074	G	A	criteria provided, single submitter	ClinGen:CA354230241
single nucleotide variant	NM_053025.4(MYLK):c.3985+5G>T	MYLK	Pathogenic	3	123382947	123382947	C	A	criteria provided, single submitter	ClinGen:CA645509140,OMIM:600922.0004
Duplication	NM_053025.4(MYLK):c.4001dup (p.Ala1335fs)	MYLK	Pathogenic	3	123376259	123376260	T	TG	criteria provided, single submitter	ClinGen:CA658796365
single nucleotide variant	NM_053025.4(MYLK):c.4415+1G>A	MYLK	Likely pathogenic	3	123367817	123367817	C	T	criteria provided, single submitter	-
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_053025.4(MYLK):c.4459C>T (p.Arg1487Ter)	MYLK	Pathogenic	3	123366231	123366231	G	A	criteria provided, single submitter	ClinGen:CA354227306
Deletion	NM_053025.4(MYLK):c.4489_4493del (p.Ala1497fs)	MYLK	Pathogenic	3	123366197	123366201	ATATGC	A	criteria provided, single submitter	ClinGen:CA16611214
single nucleotide variant	NM_053025.4(MYLK):c.4619+2T>G	MYLK	Likely pathogenic	3	123366069	123366069	A	C	criteria provided, single submitter	ClinGen:CA354226930
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