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.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.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	-
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.1400del (p.Ala467fs)	RECQL4	Pathogenic	8	145740617	145740617	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.1699C>T (p.Gln567Ter)	RECQL4	Pathogenic	8	145739831	145739831	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004260.4(RECQL4):c.1770_1807del (p.Pro591fs)	RECQL4	Pathogenic	8	145739644	145739681	CAGGCAAAAGCAACTGGAGGCAGCTGTGCGGCTGGAGGG	C	criteria provided, single submitter	-