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.3025C>T (p.Gln1009Ter)	RECQL4	Pathogenic	8	145737805	145737805	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004260.4(RECQL4):c.318del (p.Gln107fs)	RECQL4	Pathogenic	8	145742470	145742470	GC	G	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	-
Deletion	NM_004260.4(RECQL4):c.1203del (p.Glu401fs)	RECQL4	Pathogenic	8	145741203	145741203	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.2161C>T (p.Arg721Ter)	RECQL4	Pathogenic	8	145738994	145738994	G	A	criteria provided, single submitter	-
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.3394-1G>C	RECQL4	Likely pathogenic	8	145737173	145737173	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.2464-1G>A	RECQL4	Pathogenic	8	145738522	145738522	C	T	criteria provided, single submitter	-
Deletion	NC_000008.10:g.(?_145736809)_(145739655_?)del	RECQL4	Pathogenic	8	145736809	145739655	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.574C>T (p.Gln192Ter)	RECQL4	Pathogenic	8	145741929	145741929	G	A	criteria provided, single submitter	-