遺伝性乳がん・卵巣がん症候群

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_007294.4(BRCA1):c.5136G>A (p.Trp1712Ter)	BRCA1	Pathogenic	17	41215907	41215907	C	T	reviewed by expert panel	ClinGen:CA003260
Deletion	NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer)	BRCA1	Pathogenic	17	41215906	41215906	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5256&base_change=del G,ClinGen:CA003261
single nucleotide variant	NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly)	BRCA1	Pathogenic/Likely pathogenic	17	41215902	41215902	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003263
single nucleotide variant	NM_007294.4(BRCA1):c.5143A>C (p.Ser1715Arg)	BRCA1	Pathogenic	17	41215900	41215900	T	G	reviewed by expert panel	BRCA1-HCI:BRCA1_00051,ClinGen:CA003264,UniProtKB:P38398#VAR_063906
single nucleotide variant	NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys)	BRCA1	Likely pathogenic	17	41215900	41215900	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003265
single nucleotide variant	NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn)	BRCA1	Pathogenic	17	41215899	41215899	C	T	reviewed by expert panel	ClinGen:CA003266
single nucleotide variant	NM_007294.4(BRCA1):c.5145C>G (p.Ser1715Arg)	BRCA1	Pathogenic/Likely pathogenic	17	41215898	41215898	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003268,UniProtKB:P38398#VAR_063906
single nucleotide variant	NM_007294.4(BRCA1):c.5148T>G (p.Tyr1716Ter)	BRCA1	Pathogenic	17	41215895	41215895	A	C	reviewed by expert panel	ClinGen:CA003272
single nucleotide variant	NM_007294.4(BRCA1):c.514C>T (p.Gln172Ter)	BRCA1	Pathogenic	17	41251825	41251825	G	A	reviewed by expert panel	ClinGen:CA003273
Deletion	NM_007294.4(BRCA1):c.514del (p.Gln172fs)	BRCA1	Pathogenic	17	41251825	41251825	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):633&base_change=del C,ClinGen:CA003274