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_004612.4(TGFBR1):c.1420T>C (p.Cys474Arg)	TGFBR1	Likely pathogenic	9	101911495	101911495	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA323032
single nucleotide variant	NM_005902.4(SMAD3):c.772G>C (p.Asp258His)	SMAD3	Likely pathogenic	15	67473692	67473692	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA325318
single nucleotide variant	NM_005902.4(SMAD3):c.821T>C (p.Leu274Pro)	SMAD3	Likely pathogenic	15	67473741	67473741	T	C	criteria provided, single submitter	ClinGen:CA323399
single nucleotide variant	NM_005902.4(SMAD3):c.1222G>C (p.Asp408His)	SMAD3	Likely pathogenic	15	67482818	67482818	G	C	criteria provided, single submitter	ClinGen:CA322624
Duplication	NM_003238.6(TGFB2):c.370dup (p.Arg124fs)	TGFB2	Likely pathogenic	1	218578533	218578534	C	CA	criteria provided, single submitter	ClinGen:CA351821
single nucleotide variant	NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp)	TGFBR2	Likely pathogenic	3	30713727	30713727	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351866
Deletion	NM_003242.6(TGFBR2):c.1529del (p.Ile510fs)	TGFBR2	Likely pathogenic	3	30732916	30732916	AT	A	criteria provided, single submitter	ClinGen:CA10582148
single nucleotide variant	NM_003242.6(TGFBR2):c.1189G>A (p.Asp397Asn)	TGFBR2	Likely pathogenic	3	30713864	30713864	G	A	criteria provided, single submitter	ClinGen:CA10587567
single nucleotide variant	NM_005902.4(SMAD3):c.1154G>C (p.Arg385Thr)	SMAD3	Likely pathogenic	15	67479847	67479847	G	C	criteria provided, single submitter	ClinGen:CA10587882
single nucleotide variant	NM_005902.4(SMAD3):c.228G>T (p.Gln76His)	SMAD3	Likely pathogenic	15	67457254	67457254	G	T	criteria provided, single submitter	ClinGen:CA10602646