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
Deletion	NM_000059.4(BRCA2):c.842_843del (p.Asp281fs)	BRCA2	Pathogenic	13	32906457	32906458	GAC	G	reviewed by expert panel	ClinGen:CA10589055
Deletion	NM_000059.4(BRCA2):c.884del (p.Val295fs)	BRCA2	Pathogenic	13	32906499	32906499	GT	G	reviewed by expert panel	ClinGen:CA10589057
Insertion	NM_000059.4(BRCA2):c.905_906insA (p.Ser303fs)	BRCA2	Pathogenic	13	32906520	32906521	C	CA	reviewed by expert panel	ClinGen:CA10589058
Insertion	NM_000059.4(BRCA2):c.919_920insT (p.Ser307fs)	BRCA2	Pathogenic	13	32906534	32906535	A	AT	reviewed by expert panel	ClinGen:CA10589059
Deletion	NM_000059.4(BRCA2):c.927del (p.Leu310fs)	BRCA2	Pathogenic	13	32906542	32906542	CA	C	reviewed by expert panel	ClinGen:CA10589060
Deletion	NM_000059.4(BRCA2):c.949del (p.Thr317fs)	BRCA2	Pathogenic	13	32906563	32906563	GA	G	reviewed by expert panel	ClinGen:CA10589061
Deletion	NM_000059.4(BRCA2):c.956del (p.Asn319fs)	BRCA2	Pathogenic	13	32906566	32906566	CA	C	reviewed by expert panel	ClinGen:CA10589062
Deletion	NM_000059.4(BRCA2):c.968_971del (p.Val323fs)	BRCA2	Pathogenic	13	32906580	32906583	AAAGT	A	reviewed by expert panel	ClinGen:CA10589063
Deletion	NM_000059.4(BRCA2):c.970_973del (p.Arg324fs)	BRCA2	Pathogenic	13	32906584	32906587	TAAGA	T	reviewed by expert panel	ClinGen:CA10589064
single nucleotide variant	NM_000059.4(BRCA2):c.979A>T (p.Lys327Ter)	BRCA2	Pathogenic	13	32906594	32906594	A	T	reviewed by expert panel	ClinGen:CA10589065