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.686del (p.Gly229fs)	RECQL4	Pathogenic	8	145741817	145741817	AC	A	criteria provided, single submitter	-
Deletion	NM_004260.4(RECQL4):c.690_709del (p.Gly231fs)	RECQL4	Pathogenic	8	145741794	145741813	GGGCCCTGGGAGCCAGCACCA	G	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.910C>T (p.Gln304Ter)	RECQL4	Pathogenic	8	145741593	145741593	G	A	criteria provided, single submitter	-
Deletion	NM_004260.4(RECQL4):c.1051_1052del (p.Gly351fs)	RECQL4	Pathogenic	8	145741451	145741452	GCC	G	criteria provided, single submitter	-
Insertion	NM_004260.4(RECQL4):c.1223_1224insT (p.Gln408fs)	RECQL4	Pathogenic	8	145741182	145741183	C	CA	criteria provided, single submitter	-
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.3280G>T (p.Glu1094Ter)	RECQL4	Pathogenic	8	145737407	145737407	C	A	criteria provided, single submitter	-
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.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	-