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.1236G>A (p.Trp412Ter)	RECQL4	Pathogenic	8	145741170	145741170	C	T	criteria provided, single submitter	ClinGen:CA372687315
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.3148C>T (p.Gln1050Ter)	RECQL4	Pathogenic	8	145737615	145737615	G	A	criteria provided, single submitter	ClinGen:CA372670256
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
single nucleotide variant	NM_004260.4(RECQL4):c.1960C>T (p.Gln654Ter)	RECQL4	Pathogenic	8	145739410	145739410	G	A	criteria provided, single submitter	ClinGen:CA187684495
single nucleotide variant	NM_004260.4(RECQL4):c.1834C>T (p.Gln612Ter)	RECQL4	Pathogenic	8	145739617	145739617	G	A	criteria provided, single submitter	ClinGen:CA372680734
single nucleotide variant	NM_004260.4(RECQL4):c.1131+1G>A	RECQL4	Likely pathogenic	8	145741371	145741371	C	T	criteria provided, single submitter	ClinGen:CA372687922
Deletion	NM_004260.3(RECQL4):c.359_374del (p.Gly120Alafs)	RECQL4	Pathogenic/Likely pathogenic	8	145742129	145742144	GCGGCCCAGGGCTGGTC	G	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_004260.4(RECQL4):c.3293_3294insGCAGGATGAGGAGCGCAGCA (p.Arg1099fs)	RECQL4	Likely pathogenic	8	145737393	145737394	G	GTGCTGCGCTCCTCATCCTGC	criteria provided, single submitter	-
Deletion	NM_004260.4(RECQL4):c.2336_2357del (p.Asp779fs)	RECQL4	Likely pathogenic	8	145738707	145738728	CACAGCCCGCACATCTGGCCGGT	C	criteria provided, single submitter	-