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
Deletion	NM_007294.4(BRCA1):c.3485_3491del (p.Asp1162fs)	BRCA1	Pathogenic	17	41244057	41244063	ACTAGTAT	A	reviewed by expert panel	ClinGen:CA10589748
Deletion	NM_007294.4(BRCA1):c.3485_3488del (p.Asp1162fs)	BRCA1	Pathogenic	17	41244060	41244063	AGTAT	A	reviewed by expert panel	ClinGen:CA10589749
Deletion	NM_007294.4(BRCA1):c.3479_3483del (p.Lys1160fs)	BRCA1	Pathogenic	17	41244065	41244069	CTTCCT	C	reviewed by expert panel	ClinGen:CA10589750
Deletion	NM_007294.4(BRCA1):c.3478_3479del (p.Lys1160fs)	BRCA1	Pathogenic	17	41244069	41244070	CTT	C	reviewed by expert panel	ClinGen:CA10589751
single nucleotide variant	NM_007294.4(BRCA1):c.3461T>G (p.Leu1154Ter)	BRCA1	Pathogenic	17	41244087	41244087	A	C	reviewed by expert panel	ClinGen:CA10589752
Indel	NM_007294.4(BRCA1):c.3416_3427delinsC (p.Ser1139fs)	BRCA1	Pathogenic	17	41244121	41244132	ATGCATGACTAC	G	reviewed by expert panel	ClinGen:CA10589753
Duplication	NM_007294.4(BRCA1):c.3413dup (p.Ser1139fs)	BRCA1	Pathogenic	17	41244134	41244135	T	TC	reviewed by expert panel	ClinGen:CA10589754
single nucleotide variant	NM_007294.4(BRCA1):c.3412G>T (p.Gly1138Ter)	BRCA1	Pathogenic	17	41244136	41244136	C	A	reviewed by expert panel	ClinGen:CA10589755
Deletion	NM_007294.4(BRCA1):c.3396del (p.Asn1132_Leu1133insTer)	BRCA1	Pathogenic	17	41244152	41244152	AG	A	reviewed by expert panel	ClinGen:CA10589756
Deletion	NM_007294.4(BRCA1):c.3395del (p.Asn1132fs)	BRCA1	Pathogenic	17	41244153	41244153	GT	G	reviewed by expert panel	ClinGen:CA10589757