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.6412_6441del (p.Lys2138_Gly2147del)	FBN1	Likely pathogenic	15	48729213	48729242	AACCATCTGTATTGATGCACTGTCCATGTTT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5825G>A (p.Cys1942Tyr)	FBN1	Likely pathogenic	15	48737665	48737665	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5801G>C (p.Cys1934Ser)	FBN1	Pathogenic	15	48737689	48737689	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5666G>T (p.Cys1889Phe)	FBN1	Pathogenic	15	48740970	48740970	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5536C>T (p.Gln1846Ter)	FBN1	Pathogenic	15	48744768	48744768	G	A	criteria provided, single submitter	-
Indel	NM_000138.4(FBN1):c.5362_5364delinsGACT (p.Ser1788fs)	FBN1	Pathogenic	15	48748892	48748894	GCT	AGTC	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.5066-9_5086dup	FBN1	Likely pathogenic	15	48755416	48755417	T	TAGCACAAACTTCTTCTCATATCTAGAAGGG	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.4177_4199del (p.Glu1393fs)	FBN1	Pathogenic	15	48766463	48766485	GAAGCCATCACCTGTGTATCCTTC	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000138.5(FBN1):c.3952dup (p.Thr1318fs)	FBN1	Pathogenic	15	48773863	48773864	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3518A>T (p.Asn1173Ile)	FBN1	Pathogenic	15	48779343	48779343	T	A	criteria provided, single submitter	-