ロイス・ディーツ症候群

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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_005902.4(SMAD3):c.517del (p.Gln173fs)	SMAD3	Pathogenic	15	67457704	67457704	GC	G	criteria provided, single submitter	-
Deletion	NM_005902.4(SMAD3):c.398del (p.Pro133fs)	SMAD3	Likely pathogenic	15	67457423	67457423	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_005902.4(SMAD3):c.851A>G (p.Glu284Gly)	SMAD3	Likely pathogenic	15	67473771	67473771	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_005902.4(SMAD3):c.848T>A (p.Val283Glu)	SMAD3	Likely pathogenic	15	67473768	67473768	T	A	criteria provided, single submitter	-
Duplication	NM_005902.4(SMAD3):c.738_741dup (p.Phe248fs)	SMAD3	Likely pathogenic	15	67473656	67473657	G	GAGAC	criteria provided, single submitter	-
single nucleotide variant	NM_005902.4(SMAD3):c.754C>T (p.Gln252Ter)	SMAD3	Pathogenic/Likely pathogenic	15	67473674	67473674	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000015.10:g.(?_67186987)_(67187509_?)del	SMAD3	Pathogenic	15	67479325	67479847	na	na	criteria provided, single submitter	-
Duplication	NM_005902.4(SMAD3):c.1153dup (p.Arg385fs)	SMAD3	Pathogenic	15	67479845	67479846	C	CA	criteria provided, single submitter	-
single nucleotide variant	NM_005902.4(SMAD3):c.1009G>T (p.Gly337Ter)	SMAD3	Pathogenic	15	67477202	67477202	G	T	criteria provided, single submitter	-
Indel	NM_005902.4(SMAD3):c.960_972delinsGACACC (p.Cys320fs)	SMAD3	Pathogenic	15	67477153	67477165	TAACCAGCGCTAT	GACACC	criteria provided, single submitter	-