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.8632+1G>T	BRCA2	Pathogenic	13	32945238	32945238	G	T	criteria provided, single submitter	ClinGen:CA025741
single nucleotide variant	NM_000059.4(BRCA2):c.8837T>A (p.Leu2946Ter)	BRCA2	Pathogenic	13	32953536	32953536	T	A	reviewed by expert panel	ClinGen:CA025845
Deletion	NM_000059.4(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del)	BRCA2	Pathogenic/Likely pathogenic	13	32953906	32954031	GTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAAC	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):9203&base_change=del 126,ClinGen:CA025906
single nucleotide variant	NM_000059.4(BRCA2):c.9256+1G>C	BRCA2	Pathogenic/Likely pathogenic	13	32954283	32954283	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA026058
Indel	NM_000059.4(BRCA2):c.891_899delinsGATACTTCAG (p.Thr298fs)	BRCA2	Pathogenic	13	32906506	32906514	AACAGTTGT	GATACTTCAG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1119&base_change=del 9 ins GATACTTCAG,ClinGen:CA025873
Insertion	NM_000059.4(BRCA2):c.995_996insG (p.Ile332fs)	BRCA2	Pathogenic	13	32906610	32906611	T	TG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1223&base_change=ins G,ClinGen:CA026348
Insertion	NM_000059.4(BRCA2):c.1190_1191insTTAG (p.Gln397delinsHisTer)	BRCA2	Pathogenic	13	32906805	32906806	A	ATTAG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1418&base_change=ins TTAG,ClinGen:CA011109
Deletion	NM_000059.4(BRCA2):c.1231del (p.Ile411fs)	BRCA2	Pathogenic	13	32906843	32906843	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1459&base_change=del A,ClinGen:CA011252
Duplication	NM_000059.4(BRCA2):c.1362dup (p.Ser455fs)	BRCA2	Pathogenic	13	32906973	32906974	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1590&base_change=ins A,ClinGen:CA011750
Duplication	NM_000059.4(BRCA2):c.1408dup (p.Glu470fs)	BRCA2	Pathogenic	13	32907022	32907023	T	TG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1636&base_change=ins G,ClinGen:CA011946