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.1223_1224insT (p.Gln408fs)	RECQL4	Pathogenic	8	145741182	145741183	C	CA	criteria provided, single submitter	-
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
single nucleotide variant	NM_004260.4(RECQL4):c.1259-1G>A	RECQL4	Pathogenic/Likely pathogenic	8	145740842	145740842	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA4948930
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.1390+2del	RECQL4	Pathogenic	8	145740708	145740708	CA	C	criteria provided, single submitter	ClinGen:CA144324,OMIM:603780.0009
single nucleotide variant	NM_004260.4(RECQL4):c.1391-1G>A	RECQL4	Pathogenic	8	145740627	145740627	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253754,OMIM:603780.0006
single nucleotide variant	NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu)	RECQL4	Pathogenic/Likely pathogenic	8	145740620	145740620	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA144325
Deletion	NM_004260.4(RECQL4):c.1400del (p.Ala467fs)	RECQL4	Pathogenic	8	145740617	145740617	AG	A	criteria provided, single submitter	-
Indel	NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs)	RECQL4	Pathogenic	8	145740367	145740372	AGGGGC	GGGGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612532
Deletion	NM_004260.4(RECQL4):c.1568del (p.Ser523fs)	RECQL4	Pathogenic	8	145740372	145740372	GC	G	criteria provided, single submitter	ClinGen:CA10605113