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.8203del (p.Glu2735fs)	FBN1	Likely pathogenic	15	48704789	48704789	TC	T	criteria provided, single submitter	ClinGen:CA017613
Deletion	NM_000138.5(FBN1):c.8412_8417del (p.Lys2805_Ile2806del)	FBN1	Likely pathogenic	15	48703386	48703391	GATTTTA	G	criteria provided, single submitter	ClinGen:CA017730
single nucleotide variant	NM_000138.5(FBN1):c.1837+1G>T	FBN1	Likely pathogenic	15	48800778	48800778	C	A	criteria provided, single submitter	ClinGen:CA012573
single nucleotide variant	NM_000138.5(FBN1):c.2447G>C (p.Cys816Ser)	FBN1	Likely pathogenic	15	48787758	48787758	C	G	criteria provided, single submitter	ClinGen:CA013074
single nucleotide variant	NM_000138.5(FBN1):c.2448C>G (p.Cys816Trp)	FBN1	Likely pathogenic	15	48787757	48787757	G	C	criteria provided, single submitter	ClinGen:CA013083
Duplication	NM_000138.5(FBN1):c.247+2dup	FBN1	Likely pathogenic	15	48905204	48905205	T	TA	criteria provided, single submitter	ClinGen:CA013108
single nucleotide variant	NM_000138.5(FBN1):c.2488T>G (p.Cys830Gly)	FBN1	Likely pathogenic	15	48787717	48787717	A	C	criteria provided, single submitter	ClinGen:CA013135
single nucleotide variant	NM_000138.5(FBN1):c.2496T>G (p.Cys832Trp)	FBN1	Likely pathogenic	15	48787709	48787709	A	C	criteria provided, single submitter	ClinGen:CA013163
Indel	NM_000138.5(FBN1):c.268_269delinsC (p.Gly90fs)	FBN1	Likely pathogenic	15	48903002	48903003	CC	G	criteria provided, single submitter	ClinGen:CA013333
Duplication	NM_000138.5(FBN1):c.2691dup (p.Lys898Ter)	FBN1	Likely pathogenic	15	48786437	48786438	T	TA	criteria provided, single submitter	ClinGen:CA013358