ウィルムス腫瘍

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.9676del (p.Tyr3226fs)	BRCA2	Pathogenic	13	32972325	32972325	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9904&base_change=del T,ClinGen:CA026265
Duplication	NM_000059.4(BRCA2):c.9674dup (p.Tyr3225Ter)	BRCA2	Pathogenic	13	32972323	32972324	T	TA	reviewed by expert panel	ClinGen:CA10586598
Deletion	NM_000059.4(BRCA2):c.9672del (p.Tyr3225fs)	BRCA2	Pathogenic/Likely pathogenic	13	32972322	32972322	TA	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)	BRCA2	Pathogenic	13	32972321	32972322	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9900&base_change=ins A,ClinGen:CA026263,OMIM:600185.0019
single nucleotide variant	NM_000059.4(BRCA2):c.9667G>T (p.Glu3223Ter)	BRCA2	Pathogenic	13	32972317	32972317	G	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.9666del (p.Cys3222fs)	BRCA2	Pathogenic	13	32972316	32972316	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9894&base_change=del T,ClinGen:CA026261
Deletion	NM_000059.4(BRCA2):c.9649_10257del (p.Met3217_Ter3419del)	BRCA2	Pathogenic	13	32972299	32972907	GATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.9649-1G>T	BRCA2	Pathogenic	13	32972298	32972298	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387765053
single nucleotide variant	NM_000059.4(BRCA2):c.9649-1G>C	BRCA2	Likely pathogenic	13	32972298	32972298	G	C	criteria provided, single submitter	ClinGen:CA387765050
single nucleotide variant	NM_000059.4(BRCA2):c.9648+1G>C	BRCA2	Pathogenic/Likely pathogenic	13	32971182	32971182	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA026248