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.1015del (p.Leu339fs)	RECQL4	Pathogenic	8	145741488	145741488	AG	A	criteria provided, single submitter	ClinGen:CA16612542
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
Deletion	NM_004260.4(RECQL4):c.1051_1052del (p.Gly351fs)	RECQL4	Pathogenic	8	145741451	145741452	GCC	G	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.1089C>G (p.Tyr363Ter)	RECQL4	Pathogenic/Likely pathogenic	8	145741414	145741414	G	C	criteria provided, multiple submitters, no conflicts	-
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.1131_1131+3del	RECQL4	Pathogenic/Likely pathogenic	8	145741369	145741372	TTACC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612268
single nucleotide variant	NM_004260.4(RECQL4):c.1131+1G>A	RECQL4	Likely pathogenic	8	145741371	145741371	C	T	criteria provided, single submitter	ClinGen:CA372687922
single nucleotide variant	NM_004260.4(RECQL4):c.1149G>A (p.Trp383Ter)	RECQL4	Pathogenic	8	145741257	145741257	C	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_004260.3(RECQL4):c.1171_1172delinsC (p.Gly391fs)	RECQL4	Pathogenic	8	145741234	145741235	CC	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004260.4(RECQL4):c.1203del (p.Glu401fs)	RECQL4	Pathogenic	8	145741203	145741203	AC	A	criteria provided, single submitter	-