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
Deletion	NM_004260.4(RECQL4):c.1573del (p.Cys525fs)	RECQL4	Pathogenic	8	145740367	145740367	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA144327,OMIM:603780.0005
Deletion	NM_004260.4(RECQL4):c.1650_1656del (p.Ala551fs)	RECQL4	Pathogenic	8	145739874	145739880	TGCAGGCC	T	criteria provided, single submitter	ClinGen:CA253749,OMIM:603780.0001
single nucleotide variant	NM_004260.4(RECQL4):c.1699C>T (p.Gln567Ter)	RECQL4	Pathogenic	8	145739831	145739831	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004260.4(RECQL4):c.1704+1G>A	RECQL4	Pathogenic/Likely pathogenic	8	145739825	145739825	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253761,OMIM:603780.0016
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	-
Deletion	NM_004260.4(RECQL4):c.1770_1807del (p.Pro591fs)	RECQL4	Pathogenic	8	145739644	145739681	CAGGCAAAAGCAACTGGAGGCAGCTGTGCGGCTGGAGGG	C	criteria provided, single submitter	-
Deletion	NC_000008.10:g.(?_145736809)_(145739655_?)del	RECQL4	Pathogenic	8	145736809	145739655	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.1816G>T (p.Glu606Ter)	RECQL4	Pathogenic	8	145739635	145739635	C	A	criteria provided, single submitter	ClinGen:CA10582564
single nucleotide variant	NM_004260.4(RECQL4):c.1834C>T (p.Gln612Ter)	RECQL4	Pathogenic	8	145739617	145739617	G	A	criteria provided, single submitter	ClinGen:CA372680734
single nucleotide variant	NM_004260.4(RECQL4):c.1838G>A (p.Trp613Ter)	RECQL4	Pathogenic	8	145739613	145739613	C	T	criteria provided, single submitter	ClinGen:CA372680700