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.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.2412_2420del (p.Ala805_Arg807del)	RECQL4	Pathogenic/Likely pathogenic	8	145738644	145738652	ACGCCCGGCC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA4948299
Deletion	NM_004260.4(RECQL4):c.3072_3073del (p.Val1026fs)	RECQL4	Pathogenic/Likely pathogenic	8	145737690	145737691	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA4947935
Deletion	NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs)	RECQL4	Pathogenic/Likely pathogenic	8	145741454	145741455	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA275308
single nucleotide variant	NM_004260.4(RECQL4):c.2464-1G>C	RECQL4	Pathogenic/Likely pathogenic	8	145738522	145738522	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA222578
single nucleotide variant	NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu)	RECQL4	Pathogenic/Likely pathogenic	8	145740620	145740620	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA144325
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.3056-2A>C	RECQL4	Pathogenic/Likely pathogenic	8	145737709	145737709	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA253758,OMIM:603780.0014
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
single nucleotide variant	NM_004260.4(RECQL4):c.315C>G (p.Tyr105Ter)	RECQL4	Pathogenic	8	145742473	145742473	G	C	criteria provided, single submitter	-