ロスムンド・トムソン症候群

腫瘍性疾患

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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_004260.4(RECQL4):c.1089C>G (p.Tyr363Ter)	RECQL4	Pathogenic/Likely pathogenic	8	145741414	145741414	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004260.4(RECQL4):c.2755+1G>A	RECQL4	Pathogenic/Likely pathogenic	8	145738229	145738229	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004260.4(RECQL4):c.2662C>T (p.Gln888Ter)	RECQL4	Pathogenic/Likely pathogenic	8	145738323	145738323	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004260.4(RECQL4):c.2889del (p.Pro965fs)	RECQL4	Pathogenic/Likely pathogenic	8	145737941	145737941	GA	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004260.4(RECQL4):c.1717C>T (p.Gln573Ter)	RECQL4	Pathogenic/Likely pathogenic	8	145739734	145739734	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004260.4(RECQL4):c.2869C>T (p.Gln957Ter)	RECQL4	Pathogenic/Likely pathogenic	8	145738041	145738041	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004260.3(RECQL4):c.359_374del (p.Gly120Alafs)	RECQL4	Pathogenic/Likely pathogenic	8	145742129	145742144	GCGGCCCAGGGCTGGTC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004260.4(RECQL4):c.2272C>T (p.Arg758Ter)	RECQL4	Pathogenic/Likely pathogenic	8	145738793	145738793	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA4948352
Deletion	NM_004260.4(RECQL4):c.752del (p.Ser251fs)	RECQL4	Pathogenic/Likely pathogenic	8	145741751	145741751	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618614
Deletion	NM_004260.4(RECQL4):c.1131_1131+3del	RECQL4	Pathogenic/Likely pathogenic	8	145741369	145741372	TTACC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612268