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.3061C>T (p.Arg1021Trp)	RECQL4	Pathogenic	8	145737702	145737702	G	A	criteria provided, single submitter	ClinGen:CA253756,OMIM:603780.0012
single nucleotide variant	NM_004260.4(RECQL4):c.3056-2A>C	RECQL4	Pathogenic/Likely pathogenic	8	145737709	145737709	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA253758,OMIM:603780.0014
Deletion	NM_004260.4(RECQL4):c.3055+1del	RECQL4	Likely pathogenic	8	145737774	145737774	AC	A	criteria provided, single submitter	-
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.2889del (p.Pro965fs)	RECQL4	Pathogenic/Likely pathogenic	8	145737941	145737941	GA	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004260.4(RECQL4):c.2886-2A>G	RECQL4	Pathogenic	8	145737946	145737946	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.2885+1G>T	RECQL4	Likely pathogenic	8	145738024	145738024	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.2869C>T (p.Gln957Ter)	RECQL4	Pathogenic/Likely pathogenic	8	145738041	145738041	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004260.4(RECQL4):c.2866_2885+19del	RECQL4	Likely pathogenic	8	145738006	145738044	ACTGGGCAGGGCGTGCTTACCTGTGGGCCAGGGCCTGGAG	A	criteria provided, single submitter	ClinGen:CA586165231
single nucleotide variant	NM_004260.4(RECQL4):c.2756-1G>A	RECQL4	Likely pathogenic	8	145738155	145738155	C	T	criteria provided, single submitter	-