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	NG_012772.3:g.(69667_84209)_(88292_?)del	BRCA2	Pathogenic	13	32954283	32972908	na	na	criteria provided, single submitter	-
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.9924C>A (p.Tyr3308Ter)	BRCA2	Pathogenic	13	32972574	32972574	C	A	reviewed by expert panel	ClinGen:CA10589578
single nucleotide variant	NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter)	BRCA2	Pathogenic	13	32972574	32972574	C	G	reviewed by expert panel	ClinGen:CA026332
single nucleotide variant	NM_000059.4(BRCA2):c.9919A>T (p.Lys3307Ter)	BRCA2	Pathogenic	13	32972569	32972569	A	T	criteria provided, single submitter	ClinGen:CA387767049
single nucleotide variant	NM_000059.4(BRCA2):c.9895C>T (p.Gln3299Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32972545	32972545	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387766882
Duplication	NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)	BRCA2	Pathogenic	13	32972540	32972541	C	CATTT	reviewed by expert panel	ClinGen:CA026323
Deletion	NM_000059.4(BRCA2):c.9887del (p.Lys3296fs)	BRCA2	Pathogenic	13	32972536	32972536	GA	G	criteria provided, single submitter	ClinGen:CA658798107
single nucleotide variant	NM_000059.4(BRCA2):c.9883C>T (p.Gln3295Ter)	BRCA2	Pathogenic	13	32972533	32972533	C	T	reviewed by expert panel	ClinGen:CA026321
Deletion	NM_000059.4(BRCA2):c.9871del (p.Ser3291fs)	BRCA2	Pathogenic	13	32972519	32972519	GT	G	reviewed by expert panel	ClinGen:CA10589577