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.82C>T (p.Gln28Ter)	RECQL4	Pathogenic	8	145743087	145743087	G	A	criteria provided, single submitter	ClinGen:CA274910
single nucleotide variant	NM_004260.4(RECQL4):c.118+2T>C	RECQL4	Likely pathogenic	8	145742984	145742984	A	G	criteria provided, single submitter	-
Deletion	NM_004260.4(RECQL4):c.143_144del (p.Leu48fs)	RECQL4	Pathogenic	8	145742867	145742868	TCA	T	criteria provided, single submitter	ClinGen:CA658657854
Deletion	NM_004260.4(RECQL4):c.194_200del (p.Leu65fs)	RECQL4	Pathogenic	8	145742811	145742817	CGCGGGGA	C	criteria provided, single submitter	ClinGen:CA658657853
single nucleotide variant	NM_004260.4(RECQL4):c.315C>G (p.Tyr105Ter)	RECQL4	Pathogenic	8	145742473	145742473	G	C	criteria provided, single submitter	-
Deletion	NM_004260.4(RECQL4):c.318del (p.Gln107fs)	RECQL4	Pathogenic	8	145742470	145742470	GC	G	criteria provided, single submitter	-
Deletion	NM_004260.3(RECQL4):c.359_374del (p.Gly120Alafs)	RECQL4	Pathogenic/Likely pathogenic	8	145742129	145742144	GCGGCCCAGGGCTGGTC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004260.4(RECQL4):c.517C>T (p.Gln173Ter)	RECQL4	Pathogenic	8	145741986	145741986	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA4949263
single nucleotide variant	NM_004260.4(RECQL4):c.574C>T (p.Gln192Ter)	RECQL4	Pathogenic	8	145741929	145741929	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.641C>A (p.Ser214Ter)	RECQL4	Pathogenic	8	145741862	145741862	G	T	criteria provided, single submitter	-