ウィルムス腫瘍

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
Duplication	NM_000059.4(BRCA2):c.270_273dup (p.Gln92fs)	BRCA2	Pathogenic	13	32893415	32893416	T	TGTAC	criteria provided, single submitter	ClinGen:CA658656335
Deletion	NM_000059.4(BRCA2):c.7279_7283del (p.Asn2427fs)	BRCA2	Pathogenic	13	32929267	32929271	ATTAAC	A	criteria provided, single submitter	ClinGen:CA658656417
single nucleotide variant	NM_000059.4(BRCA2):c.7570A>T (p.Lys2524Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32930699	32930699	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387743779
Deletion	NM_000059.4(BRCA2):c.1992del (p.Thr665fs)	BRCA2	Pathogenic	13	32910482	32910482	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656350
Deletion	NM_000059.4(BRCA2):c.2272del (p.Ser758fs)	BRCA2	Pathogenic	13	32910761	32910761	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656370
Indel	NM_000059.4(BRCA2):c.7833_7843delinsG (p.Asp2611fs)	BRCA2	Pathogenic	13	32936687	32936697	TCCAAAGCTTA	G	criteria provided, single submitter	ClinGen:CA658656477
Duplication	NM_000059.4(BRCA2):c.9330dup (p.Glu3111Ter)	BRCA2	Pathogenic	13	32968898	32968899	A	AT	criteria provided, single submitter	ClinGen:CA658656359
single nucleotide variant	NM_000059.4(BRCA2):c.9919A>T (p.Lys3307Ter)	BRCA2	Pathogenic	13	32972569	32972569	A	T	criteria provided, single submitter	ClinGen:CA387767049
Duplication	NM_000059.4(BRCA2):c.3620_3621dup (p.Leu1208fs)	BRCA2	Pathogenic	13	32912110	32912111	T	TTA	criteria provided, single submitter	ClinGen:CA658656419
Deletion	NM_000059.4(BRCA2):c.4013_4014del (p.Gly1338fs)	BRCA2	Pathogenic	13	32912505	32912506	GGC	G	criteria provided, single submitter	ClinGen:CA658656332