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
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
single nucleotide variant	NM_004260.4(RECQL4):c.1259-1G>A	RECQL4	Pathogenic/Likely pathogenic	8	145740842	145740842	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA4948930
Deletion	NM_004260.4(RECQL4):c.1568del (p.Ser523fs)	RECQL4	Pathogenic	8	145740372	145740372	GC	G	criteria provided, single submitter	ClinGen:CA10605113
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
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
Deletion	NM_004260.4(RECQL4):c.1015del (p.Leu339fs)	RECQL4	Pathogenic	8	145741488	145741488	AG	A	criteria provided, single submitter	ClinGen:CA16612542
Deletion	NM_004260.4(RECQL4):c.805del (p.Trp269fs)	RECQL4	Pathogenic	8	145741698	145741698	CA	C	criteria provided, single submitter	ClinGen:CA16612545
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