マルファン症候群

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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_000138.5(FBN1):c.6625G>T (p.Glu2209Ter)	FBN1	Pathogenic	15	48725177	48725177	C	A	criteria provided, single submitter	ClinGen:CA10603334
Duplication	NM_000138.5(FBN1):c.2598_2601dup (p.Gly868fs)	FBN1	Pathogenic	15	48787395	48787396	C	CATTG	criteria provided, single submitter	ClinGen:CA10603340
single nucleotide variant	NM_000138.5(FBN1):c.2114-2A>C	FBN1	Pathogenic	15	48791237	48791237	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603342
single nucleotide variant	NM_000138.5(FBN1):c.2T>G (p.Met1Arg)	FBN1	Pathogenic	15	48936965	48936965	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603351
single nucleotide variant	NM_000138.5(FBN1):c.6380-2A>C	FBN1	Pathogenic/Likely pathogenic	15	48729276	48729276	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603438
single nucleotide variant	NM_000138.5(FBN1):c.6186T>G (p.Tyr2062Ter)	FBN1	Pathogenic	15	48730092	48730092	A	C	criteria provided, single submitter	ClinGen:CA10603440
single nucleotide variant	NM_000138.5(FBN1):c.5917+1G>A	FBN1	Pathogenic/Likely pathogenic	15	48737572	48737572	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603448
Duplication	NM_000138.5(FBN1):c.1179_1180dup (p.Val394fs)	FBN1	Pathogenic	15	48808526	48808527	A	ACC	criteria provided, single submitter	ClinGen:CA10603463
single nucleotide variant	NM_000138.5(FBN1):c.539-1G>T	FBN1	Pathogenic	15	48830006	48830006	C	A	criteria provided, single submitter	ClinGen:CA10603465
Duplication	NM_000138.4(FBN1):c.5593_5594dup (p.Ile1866fs)	FBN1	Pathogenic	15	48741041	48741042	G	GCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605850