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.2756-1G>A	RECQL4	Likely pathogenic	8	145738155	145738155	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.2755+1G>A	RECQL4	Pathogenic/Likely pathogenic	8	145738229	145738229	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004260.4(RECQL4):c.2752G>T (p.Glu918Ter)	RECQL4	Pathogenic	8	145738233	145738233	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004260.4(RECQL4):c.2662C>T (p.Gln888Ter)	RECQL4	Pathogenic/Likely pathogenic	8	145738323	145738323	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004260.4(RECQL4):c.2636dup (p.Gln880fs)	RECQL4	Pathogenic	8	145738348	145738349	A	AG	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.2590C>T (p.Gln864Ter)	RECQL4	Pathogenic	8	145738395	145738395	G	A	criteria provided, single submitter	ClinGen:CA187681645
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.2476C>T (p.Arg826Ter)	RECQL4	Pathogenic	8	145738509	145738509	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA144335
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.2464-1G>A	RECQL4	Pathogenic	8	145738522	145738522	C	T	criteria provided, single submitter	-