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_003238.6(TGFB2):c.156del (p.Pro54fs)	TGFB2	Likely pathogenic	1	218520199	218520199	GT	G	criteria provided, single submitter	ClinGen:CA645369171
Deletion	Single allele	TGFB2	Pathogenic	1	216672181	220202575	na	na	criteria provided, single submitter	-
Deletion	Single allele	TGFB2	Pathogenic	1	215588712	222145072	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004612.4(TGFBR1):c.1460G>T (p.Arg487Leu)	TGFBR1	Likely pathogenic	9	101911535	101911535	G	T	criteria provided, single submitter	ClinGen:CA16605939
single nucleotide variant	NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln)	TGFBR1	Pathogenic	9	101911535	101911535	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008776,UniProtKB:P36897#VAR_029484,OMIM:190181.0006
single nucleotide variant	NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp)	TGFBR1	Pathogenic/Likely pathogenic	9	101911534	101911534	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008768,UniProtKB:P36897#VAR_029485,OMIM:190181.0007
single nucleotide variant	NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser)	TGFBR1	Pathogenic/Likely pathogenic	9	101911532	101911532	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly)	TGFBR1	Pathogenic	9	101911519	101911519	A	G	criteria provided, single submitter	ClinGen:CA008762
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_004612.4(TGFBR1):c.1303G>C (p.Asp435His)	TGFBR1	Likely pathogenic	9	101909983	101909983	G	C	criteria provided, single submitter	-