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.1390+2del	RECQL4	Pathogenic	8	145740708	145740708	CA	C	criteria provided, single submitter	ClinGen:CA144324,OMIM:603780.0009
single nucleotide variant	NM_004260.4(RECQL4):c.2059-1G>A	RECQL4	Pathogenic	8	145739097	145739097	C	T	criteria provided, single submitter	ClinGen:CA144332
single nucleotide variant	NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter)	RECQL4	Pathogenic	8	145738509	145738509	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA144335
Deletion	NM_004260.4(RECQL4):c.3072del (p.Val1026fs)	RECQL4	Pathogenic	8	145737691	145737691	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA144337
single nucleotide variant	NM_004260.4(RECQL4):c.82C>T (p.Gln28Ter)	RECQL4	Pathogenic	8	145743087	145743087	G	A	criteria provided, single submitter	ClinGen:CA274910
Duplication	NM_004260.4(RECQL4):c.2379_2380dup (p.Ser794fs)	RECQL4	Pathogenic	8	145738683	145738684	C	CTT	criteria provided, single submitter	ClinGen:CA10582563
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
Deletion	NM_004260.4(RECQL4):c.1102del (p.Ala368fs)	RECQL4	Pathogenic	8	145741401	145741401	GC	G	criteria provided, single submitter	ClinGen:CA10603050
Deletion	NM_004260.4(RECQL4):c.1568del (p.Ser523fs)	RECQL4	Pathogenic	8	145740372	145740372	GC	G	criteria provided, single submitter	ClinGen:CA10605113
Indel	NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs)	RECQL4	Pathogenic	8	145740367	145740372	AGGGGC	GGGGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612532