ロイス・ディーツ症候群

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.904C>T (p.Arg302Cys)	TGFB2	Pathogenic/Likely pathogenic	1	218609461	218609461	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA354091
Deletion	NM_003238.6(TGFB2):c.1022_1026del (p.Tyr341fs)	TGFB2	Pathogenic	1	218610773	218610777	GTACAA	G	criteria provided, single submitter	ClinGen:CA281903,OMIM:190220.0003
Deletion	Single allele	TGFB2	Pathogenic	1	215588712	222145072	na	na	criteria provided, single submitter	-
Deletion	Single allele	TGFB2	Pathogenic	1	216672181	220202575	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_003238.6(TGFB2):c.904C>A (p.Arg302Ser)	TGFB2	Pathogenic/Likely pathogenic	1	218609461	218609461	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581764
single nucleotide variant	NM_003242.6(TGFBR2):c.1271A>G (p.Tyr424Cys)	TGFBR2	Pathogenic	3	30715613	30715613	A	G	criteria provided, single submitter	ClinGen:CA10582147
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.831G>T (p.Lys277Asn)	TGFBR2	Pathogenic	3	30713506	30713506	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587565
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_003242.6(TGFBR2):c.1136A>T (p.Asp379Val)	TGFBR2	Pathogenic	3	30713811	30713811	A	T	criteria provided, single submitter	ClinGen:CA10587568