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.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.2269C>T (p.Gln757Ter)	RECQL4	Pathogenic	8	145738796	145738796	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253750,OMIM:603780.0002
Deletion	NM_004260.4(RECQL4):c.2492_2493del (p.His831fs)	RECQL4	Pathogenic/Likely pathogenic	8	145738492	145738493	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA253752,OMIM:603780.0003
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
single nucleotide variant	NM_004260.4(RECQL4):c.1391-1G>A	RECQL4	Pathogenic	8	145740627	145740627	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253754,OMIM:603780.0006
single nucleotide variant	NM_004260.4(RECQL4):c.806G>A (p.Trp269Ter)	RECQL4	Pathogenic	8	145741697	145741697	C	T	criteria provided, single submitter	ClinGen:CA117928,OMIM:603780.0011
single nucleotide variant	NM_004260.4(RECQL4):c.3061C>T (p.Arg1021Trp)	RECQL4	Pathogenic	8	145737702	145737702	G	A	criteria provided, single submitter	ClinGen:CA253756,OMIM:603780.0012
single nucleotide variant	NM_004260.4(RECQL4):c.3056-2A>C	RECQL4	Pathogenic/Likely pathogenic	8	145737709	145737709	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA253758,OMIM:603780.0014
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
Deletion	NM_004260.4(RECQL4):c.1390+2del	RECQL4	Pathogenic	8	145740708	145740708	CA	C	criteria provided, single submitter	ClinGen:CA144324,OMIM:603780.0009