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_000138.4(FBN1):c.6497_6616del	FBN1	Pathogenic	15	48726791	48726910	CCTTCACATGTCATCATTGGACCGGGCTCAAATCCCTCCTCGCAGGTGCATTCAAAACCTCCAATCACATTCTTGCAGGTTCCATTTCCACAAGGATTGCCAACAGAACATTCATCAGTAT	C	criteria provided, single submitter	-
Deletion	NM_000138.4(FBN1):c.6038_6163del	FBN1	Pathogenic	15	48733918	48734043	CCTTGGCACCTTCTTCCACTGGAGGACAAGGAAAACCCTTCTGGACACAGACATTTGAAGCTGCCTTCAGTGTTACTGCATGTGCCCAGGGCACAAATTTCTGGCTCTTCGACACACTCATCAATAT	C	criteria provided, single submitter	-
Deletion	NM_000138.4(FBN1):c.5225_5296del	FBN1	Pathogenic	15	48752443	48752514	CCAACGGGTAAACCGGTATAAATGTCGATGACAAAGCCTGGCCTTTGACTTCCACAGAGTGTAGCAAACTCAT	C	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.1659del (p.His554fs)	FBN1	Pathogenic	15	48802296	48802296	GA	G	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48460226)_(48460337_?)del	FBN1	Pathogenic	15	48752423	48752534	na	na	criteria provided, single submitter	-
Duplication	NC_000015.9:g.(?_48888460)_(48905309_?)dup	FBN1	Likely pathogenic	15	48888460	48905309	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.8056T>C (p.Cys2686Arg)	FBN1	Pathogenic	15	48704936	48704936	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7987T>C (p.Cys2663Arg)	FBN1	Pathogenic	15	48707797	48707797	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7664G>T (p.Gly2555Val)	FBN1	Pathogenic	15	48713790	48713790	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7279T>C (p.Cys2427Arg)	FBN1	Likely pathogenic	15	48717987	48717987	A	G	criteria provided, single submitter	-