ロスムンド・トムソン症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.3394-1G>C	RECQL4	Likely pathogenic	8	145737173	145737173	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.3393+2T>G	RECQL4	Likely pathogenic	8	145737292	145737292	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004260.4(RECQL4):c.3393+1G>A	RECQL4	Likely pathogenic	8	145737293	145737293	C	T	criteria provided, single submitter	-
Insertion	NM_004260.4(RECQL4):c.3293_3294insGCAGGATGAGGAGCGCAGCA (p.Arg1099fs)	RECQL4	Likely pathogenic	8	145737393	145737394	G	GTGCTGCGCTCCTCATCCTGC	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	-
Deletion	NM_004260.4(RECQL4):c.3277del (p.Asp1093fs)	RECQL4	Pathogenic	8	145737410	145737410	TC	T	criteria provided, single submitter	ClinGen:CA586165205
single nucleotide variant	NM_004260.4(RECQL4):c.3237-1G>A	RECQL4	Likely pathogenic	8	145737451	145737451	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.3148C>T (p.Gln1050Ter)	RECQL4	Pathogenic	8	145737615	145737615	G	A	criteria provided, single submitter	ClinGen:CA372670256
Deletion	NM_004260.4(RECQL4):c.3072del (p.Val1026fs)	RECQL4	Pathogenic	8	145737691	145737691	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA144337
Deletion	NM_004260.4(RECQL4):c.3072_3073del (p.Val1026fs)	RECQL4	Pathogenic/Likely pathogenic	8	145737690	145737691	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA4947935