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
Insertion	NM_004260.4(RECQL4):c.674_675insT (p.Ala226fs)	RECQL4	Pathogenic	8	145741828	145741829	C	CA	criteria provided, single submitter	-
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	-
Deletion	NM_004260.4(RECQL4):c.752del (p.Ser251fs)	RECQL4	Pathogenic/Likely pathogenic	8	145741751	145741751	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618614
single nucleotide variant	NM_004260.4(RECQL4):c.792G>A (p.Trp264Ter)	RECQL4	Pathogenic	8	145741711	145741711	C	T	criteria provided, single submitter	ClinGen:CA372689216
Deletion	NM_004260.4(RECQL4):c.805del (p.Trp269fs)	RECQL4	Pathogenic	8	145741698	145741698	CA	C	criteria provided, single submitter	ClinGen:CA16612545
single nucleotide variant	NM_004260.4(RECQL4):c.806G>A (p.Trp269Ter)	RECQL4	Pathogenic	8	145741697	145741697	C	T	criteria provided, single submitter	ClinGen:CA117928,OMIM:603780.0011
Deletion	NM_004260.4(RECQL4):c.871del (p.Ala291fs)	RECQL4	Pathogenic	8	145741632	145741632	GC	G	criteria provided, single submitter	ClinGen:CA586165522
single nucleotide variant	NM_004260.4(RECQL4):c.910C>T (p.Gln304Ter)	RECQL4	Pathogenic	8	145741593	145741593	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.925C>T (p.Gln309Ter)	RECQL4	Pathogenic	8	145741578	145741578	G	A	criteria provided, single submitter	ClinGen:CA372688649