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.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.1391-1G>A	RECQL4	Pathogenic	8	145740627	145740627	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253754,OMIM:603780.0006
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.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.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.2885+1G>T	RECQL4	Likely pathogenic	8	145738024	145738024	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.3393+1G>A	RECQL4	Likely pathogenic	8	145737293	145737293	C	T	criteria provided, single submitter	-
Deletion	NM_004260.4(RECQL4):c.3055+1del	RECQL4	Likely pathogenic	8	145737774	145737774	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.3237-1G>A	RECQL4	Likely pathogenic	8	145737451	145737451	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.3393+2T>G	RECQL4	Likely pathogenic	8	145737292	145737292	A	C	criteria provided, multiple submitters, no conflicts	-