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
single nucleotide variant	NM_005902.4(SMAD3):c.401-6G>A	SMAD3	Pathogenic/Likely pathogenic	15	67457585	67457585	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005902.4(SMAD3):c.277C>T (p.Arg93Ter)	SMAD3	Pathogenic/Likely pathogenic	15	67457303	67457303	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA062085
Indel	NM_005902.4(SMAD3):c.275_281delinsC (p.Trp92_Trp94delinsSer)	SMAD3	Pathogenic/Likely pathogenic	15	67457301	67457307	GGCGATG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA320096
Duplication	NM_005902.4(SMAD3):c.263dup (p.Tyr88Ter)	SMAD3	Pathogenic	15	67457288	67457289	T	TA	criteria provided, single submitter	ClinGen:CA322123
single nucleotide variant	NM_005902.4(SMAD3):c.154G>T (p.Glu52Ter)	SMAD3	Pathogenic	15	67358646	67358646	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA325173
single nucleotide variant	NM_005902.4(SMAD3):c.82G>T (p.Glu28Ter)	SMAD3	Pathogenic	15	67358574	67358574	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA323266
single nucleotide variant	NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys)	SMAD3	Pathogenic/Likely pathogenic	15	67473722	67473722	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020119
single nucleotide variant	NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)	SMAD3	Pathogenic/Likely pathogenic	15	67473780	67473780	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020135
single nucleotide variant	NM_005902.4(SMAD3):c.364G>A (p.Val122Met)	SMAD3	Likely pathogenic	15	67457390	67457390	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020081
single nucleotide variant	NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys)	SMAD3	Likely pathogenic	15	67473635	67473635	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P84022#VAR_067047,OMIM:603109.0006,ClinGen:CA020100