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.479G>A (p.Cys160Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48888539	48888539	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.247+1G>T	FBN1	Likely pathogenic	15	48905206	48905206	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.238T>G (p.Cys80Gly)	FBN1	Likely pathogenic	15	48905216	48905216	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.211T>A (p.Trp71Arg)	FBN1	Pathogenic	15	48905243	48905243	A	T	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.164+1del	FBN1	Pathogenic/Likely pathogenic	15	48936802	48936802	AC	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.32T>G (p.Leu11Arg)	FBN1	Likely pathogenic	15	48936935	48936935	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.2T>C (p.Met1Thr)	FBN1	Likely pathogenic	15	48936965	48936965	A	G	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.2506del (p.Ser836fs)	FBN1	Pathogenic	15	48787699	48787699	CT	C	criteria provided, single submitter	-
Deletion	NC_000015.9:g.48703187_48748959del45773	FBN1	Pathogenic	15	48703187	48748959	na	na	criteria provided, single submitter	-
Deletion	NM_000138.4(FBN1):c.6740_6871del	FBN1	Pathogenic	15	48722868	48722999	CCTACACAGCCTTCTCCATCAGGTCTCCGCTGATACCCGGGTCCACAGATGCACATATATGTGCCAATGAGGTTCTTGCATTCCATTTGTTTTTCAGTACAGTCATGTTTTCCCTCTTCACACTCATCCTCAT	C	criteria provided, single submitter	-