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.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.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.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.82C>T (p.Gln28Ter)	RECQL4	Pathogenic	8	145743087	145743087	G	A	criteria provided, single submitter	ClinGen:CA274910
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.1390+1G>T	RECQL4	Likely pathogenic	8	145740709	145740709	C	A	criteria provided, single submitter	ClinGen:CA372685222
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.2412_2420del (p.Ala805_Arg807del)	RECQL4	Pathogenic/Likely pathogenic	8	145738644	145738652	ACGCCCGGCC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA4948299