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.7980T>A (p.Tyr2660Ter)	BRCA2	Pathogenic	13	32937319	32937319	T	A	reviewed by expert panel	ClinGen:CA387748495
Indel	NM_000059.3(BRCA2):c.8002_8003delinsTA (p.Arg2668Ter)	BRCA2	Pathogenic	13	32937341	32937342	AG	TA	reviewed by expert panel	ClinGen:CA645372929
Deletion	NM_000059.4(BRCA2):c.8145del (p.Val2716fs)	BRCA2	Pathogenic	13	32937480	32937480	CA	C	reviewed by expert panel	ClinGen:CA645372930
single nucleotide variant	NM_000059.4(BRCA2):c.8245C>T (p.Gln2749Ter)	BRCA2	Pathogenic	13	32937584	32937584	C	T	reviewed by expert panel	ClinGen:CA387749914
Duplication	NM_000059.4(BRCA2):c.8655dup (p.Pro2886fs)	BRCA2	Pathogenic	13	32950828	32950829	T	TA	reviewed by expert panel	ClinGen:CA645372963
Deletion	NM_000059.4(BRCA2):c.9018_9022del (p.Arg3007fs)	BRCA2	Pathogenic	13	32953950	32953954	TACAGA	T	reviewed by expert panel	ClinGen:CA645372937
single nucleotide variant	NM_000059.4(BRCA2):c.317-2A>G	BRCA2	Likely pathogenic	13	32899211	32899211	A	G	criteria provided, single submitter	ClinGen:CA387756456
Deletion	NM_000059.4(BRCA2):c.3068_3071del (p.Asn1023fs)	BRCA2	Pathogenic	13	32911560	32911563	AACAT	A	reviewed by expert panel	ClinGen:CA645372951
Deletion	NM_000059.3(BRCA2):c.68_316del249 (p.Asp23_Leu105del)	BRCA2	Pathogenic/Likely pathogenic	13	32893211	32893459	ATAGATTTAGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTATAATTCTGAACCTGCAGAAGAATCTGAACATAAAAACAACAATTACGAACCAAACCTATTTAAAACTCCACAAAGGAAACCATCTTATAATCAGCTGGCTTCAACTCCAATAATATTCAAAGAGCAAGGGCTGACTCTGCCGCTGTACCAATCTCCTGTAAAAGAATTAGATAAATTCAAATTAGACT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA500022
Deletion	NM_000059.4(BRCA2):c.246del (p.Glu83fs)	BRCA2	Pathogenic	13	32893390	32893390	CA	C	reviewed by expert panel	ClinGen:CA645372943