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
single nucleotide variant	NM_000059.4(BRCA2):c.5247T>G (p.Tyr1749Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32913739	32913739	T	G	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000059.4(BRCA2):c.6727_6728insAT (p.Ser2243fs)	BRCA2	Pathogenic	13	32915218	32915219	T	TTA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.5762_5772del (p.Phe1921fs)	BRCA2	Pathogenic	13	32914252	32914262	TTTTTGCTGACA	T	criteria provided, single submitter	-
Indel	NM_000059.4(BRCA2):c.6100delinsTA (p.Arg2034Ter)	BRCA2	Likely pathogenic	13	32914592	32914592	C	TA	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.6421_6424dup (p.Ser2142fs)	BRCA2	Likely pathogenic	13	32914911	32914912	G	GTGGT	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.8808del (p.Asn2937fs)	BRCA2	Likely pathogenic	13	32953507	32953507	TG	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.8218_8222del (p.Leu2740fs)	BRCA2	Likely pathogenic	13	32937557	32937561	CTTAAA	C	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.3235dup (p.Ser1079fs)	BRCA2	Pathogenic	13	32911724	32911725	G	GT	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.4333_4337del (p.Lys1445fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912822	32912826	TAATAA	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.5385dup (p.Asp1796fs)	BRCA2	Pathogenic	13	32913873	32913874	T	TA	criteria provided, single submitter	-