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
Deletion	NM_000138.5(FBN1):c.5720del (p.Asn1907fs)	FBN1	Pathogenic	15	48738971	48738971	GT	G	criteria provided, single submitter	ClinGen:CA10587809
single nucleotide variant	NM_000138.5(FBN1):c.5789-2A>G	FBN1	Pathogenic	15	48737703	48737703	T	C	criteria provided, single submitter	ClinGen:CA10587813
single nucleotide variant	NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48748884	48748884	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587814
Deletion	NM_000138.5(FBN1):c.5536del (p.Gln1846fs)	FBN1	Pathogenic	15	48744768	48744768	TG	T	criteria provided, single submitter	ClinGen:CA10587816
single nucleotide variant	NM_000138.5(FBN1):c.5155T>C (p.Cys1719Arg)	FBN1	Likely pathogenic	15	48755348	48755348	A	G	criteria provided, single submitter	ClinGen:CA10587817
Deletion	NM_000138.4(FBN1):c.5067_5073delTATGAGA	FBN1	Pathogenic	15	48755430	48755436	TTCTCATA	T	criteria provided, single submitter	ClinGen:CA10587818
Deletion	NM_000138.5(FBN1):c.4956del (p.Cys1652fs)	FBN1	Pathogenic	15	48756205	48756205	CA	C	criteria provided, single submitter	ClinGen:CA10587819
Deletion	NM_000138.5(FBN1):c.4412_4415del (p.Glu1471fs)	FBN1	Pathogenic	15	48762875	48762878	ACACT	A	criteria provided, single submitter	ClinGen:CA10587821
single nucleotide variant	NM_000138.5(FBN1):c.4577G>A (p.Cys1526Tyr)	FBN1	Likely pathogenic	15	48760614	48760614	C	T	criteria provided, single submitter	ClinGen:CA10587825
Deletion	NM_000138.5(FBN1):c.4135_4141del (p.Asp1379fs)	FBN1	Pathogenic	15	48766521	48766527	TTGCAGTC	T	criteria provided, single submitter	ClinGen:CA10587826