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_001613.4(ACTA2):c.146T>C (p.Met49Thr)	ACTA2	Likely pathogenic	10	90707127	90707127	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377513533
single nucleotide variant	NM_004612.4(TGFBR1):c.1061T>C (p.Leu354Pro)	TGFBR1	Likely pathogenic	9	101907101	101907101	T	C	criteria provided, single submitter	ClinGen:CA374231501
single nucleotide variant	NM_003242.6(TGFBR2):c.1051G>C (p.Gly351Arg)	TGFBR2	Likely pathogenic	3	30713726	30713726	G	C	criteria provided, single submitter	ClinGen:CA351808443
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
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.3823C>T (p.Arg1275Ter)	MYLK	Pathogenic	3	123385074	123385074	G	A	criteria provided, single submitter	ClinGen:CA354230241
single nucleotide variant	NM_003242.6(TGFBR2):c.1379G>T (p.Arg460Leu)	TGFBR2	Pathogenic	3	30715721	30715721	G	T	criteria provided, single submitter	ClinGen:CA351809138
single nucleotide variant	NM_003242.6(TGFBR2):c.1130A>G (p.His377Arg)	TGFBR2	Pathogenic	3	30713805	30713805	A	G	criteria provided, single submitter	ClinGen:CA351808600
single nucleotide variant	NM_001613.4(ACTA2):c.46T>C (p.Ser16Pro)	ACTA2	Likely pathogenic	10	90708642	90708642	A	G	criteria provided, single submitter	ClinGen:CA377513755
single nucleotide variant	NM_004612.4(TGFBR1):c.1303G>C (p.Asp435His)	TGFBR1	Likely pathogenic	9	101909983	101909983	G	C	criteria provided, single submitter	-