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.1390+1G>T	RECQL4	Likely pathogenic	8	145740709	145740709	C	A	criteria provided, single submitter	ClinGen:CA372685222
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.1131+1G>A	RECQL4	Likely pathogenic	8	145741371	145741371	C	T	criteria provided, single submitter	ClinGen:CA372687922
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	-
single nucleotide variant	NM_004260.4(RECQL4):c.2200+2T>C	RECQL4	Likely pathogenic	8	145738953	145738953	A	G	criteria provided, single submitter	-
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.2756-1G>A	RECQL4	Likely pathogenic	8	145738155	145738155	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.118+2T>C	RECQL4	Likely pathogenic	8	145742984	145742984	A	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	-