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_003238.6(TGFB2):c.1139G>T (p.Cys380Phe)	TGFB2	Likely pathogenic	1	218614598	218614598	G	T	criteria provided, single submitter	ClinGen:CA344727869
single nucleotide variant	NM_004612.4(TGFBR1):c.230T>G (p.Leu77Ter)	TGFBR1	Pathogenic	9	101891269	101891269	T	G	criteria provided, single submitter	ClinGen:CA374225763
Duplication	NM_004612.4(TGFBR1):c.633_635dup (p.Gly212dup)	TGFBR1	Pathogenic	9	101900198	101900199	T	TTGG	criteria provided, single submitter	ClinGen:CA658797254
Deletion	NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs)	TGFB3	Pathogenic/Likely pathogenic	14	76425664	76425667	TTCAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798230
single nucleotide variant	NM_005902.4(SMAD3):c.1A>C (p.Met1Leu)	SMAD3	Likely pathogenic	15	67358493	67358493	A	C	criteria provided, single submitter	ClinGen:CA393202665
single nucleotide variant	NM_005902.4(SMAD3):c.733G>C (p.Gly245Arg)	SMAD3	Pathogenic/Likely pathogenic	15	67473653	67473653	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392956090
single nucleotide variant	NM_005902.4(SMAD3):c.871G>T (p.Gly291Ter)	SMAD3	Pathogenic	15	67473791	67473791	G	T	criteria provided, single submitter	ClinGen:CA392956433
single nucleotide variant	NM_004612.4(TGFBR1):c.1061T>C (p.Leu354Pro)	TGFBR1	Likely pathogenic	9	101907101	101907101	T	C	criteria provided, single submitter	ClinGen:CA374231501
Deletion	NM_005902.4(SMAD3):c.648del (p.His216fs)	SMAD3	Likely pathogenic	15	67462932	67462932	AT	A	criteria provided, single submitter	ClinGen:CA658798395
Deletion	NM_005902.4(SMAD3):c.1229_1244del (p.Val410fs)	SMAD3	Likely pathogenic	15	67482823	67482838	AGGTCCTCACCCAGATG	A	criteria provided, single submitter	ClinGen:CA658798398