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.3746G>C (p.Cys1249Ser)	FBN1	Likely pathogenic	15	48776107	48776107	C	G	criteria provided, single submitter	ClinGen:CA014509,OMIM:134797.0005
single nucleotide variant	NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala)	FBN1	Likely pathogenic	15	48789588	48789588	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012833,OMIM:134797.0011
single nucleotide variant	NM_000138.5(FBN1):c.6739+1G>C	FBN1	Likely pathogenic	15	48725062	48725062	C	G	criteria provided, single submitter	ClinGen:CA392333153,OMIM:134797.0014
single nucleotide variant	NM_000138.5(FBN1):c.2954G>A (p.Gly985Glu)	FBN1	Likely pathogenic	15	48782176	48782176	C	T	criteria provided, single submitter	ClinGen:CA013595,OMIM:134797.0034
Duplication	NM_000138.5(FBN1):c.1669_1677dup (p.Cys557_Ala559dup)	FBN1	Likely pathogenic	15	48802277	48802278	C	CCGCATTACA	criteria provided, single submitter	ClinGen:CA012454
single nucleotide variant	NM_000138.5(FBN1):c.2057C>A (p.Ala686Asp)	FBN1	Likely pathogenic	15	48796040	48796040	G	T	criteria provided, single submitter	ClinGen:CA012756
Deletion	NM_000138.5(FBN1):c.2186del (p.Leu729fs)	FBN1	Likely pathogenic	15	48789570	48789570	TA	T	criteria provided, single submitter	ClinGen:CA012860
single nucleotide variant	NM_000138.5(FBN1):c.2369G>C (p.Cys790Ser)	FBN1	Likely pathogenic	15	48788347	48788347	C	G	criteria provided, single submitter	ClinGen:CA012976
single nucleotide variant	NM_000138.5(FBN1):c.266G>C (p.Cys89Ser)	FBN1	Likely pathogenic	15	48903005	48903005	C	G	criteria provided, single submitter	ClinGen:CA013283
single nucleotide variant	NM_000138.5(FBN1):c.2677G>C (p.Asp893His)	FBN1	Likely pathogenic	15	48787320	48787320	C	G	criteria provided, single submitter	ClinGen:CA013303