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.4000_4001del (p.Leu1334fs)	BRCA2	Pathogenic	13	32912492	32912493	CTT	C	reviewed by expert panel	ClinGen:CA019371
Deletion	NM_000059.4(BRCA2):c.4211del (p.Thr1403_Ser1404insTer)	BRCA2	Pathogenic	13	32912703	32912703	TC	T	reviewed by expert panel	ClinGen:CA019731
single nucleotide variant	NM_000059.4(BRCA2):c.426-2A>G	BRCA2	Pathogenic/Likely pathogenic	13	32900236	32900236	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA019852
single nucleotide variant	NM_000059.4(BRCA2):c.4325C>G (p.Ser1442Ter)	BRCA2	Pathogenic	13	32912817	32912817	C	G	reviewed by expert panel	ClinGen:CA019993
Deletion	NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)	BRCA2	Pathogenic	13	32913044	32913044	AG	A	reviewed by expert panel	ClinGen:CA020414
single nucleotide variant	NM_000059.4(BRCA2):c.4847T>G (p.Leu1616Ter)	BRCA2	Pathogenic	13	32913339	32913339	T	G	reviewed by expert panel	ClinGen:CA020903
Duplication	NM_000059.4(BRCA2):c.4964dup (p.Tyr1655Ter)	BRCA2	Pathogenic	13	32913455	32913456	T	TA	reviewed by expert panel	ClinGen:CA021064
Deletion	NM_000059.4(BRCA2):c.4990_4991del (p.Val1663_Ile1664insTer)	BRCA2	Pathogenic	13	32913482	32913483	CAT	C	reviewed by expert panel	ClinGen:CA021114
single nucleotide variant	NM_000059.4(BRCA2):c.5054C>A (p.Ser1685Ter)	BRCA2	Pathogenic	13	32913546	32913546	C	A	reviewed by expert panel	ClinGen:CA021187
Duplication	NM_000059.4(BRCA2):c.512dup (p.Lys172fs)	BRCA2	Pathogenic	13	32900414	32900415	G	GT	reviewed by expert panel	ClinGen:CA021323