家族性膵がん - MGenReviews

家族性膵がん

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
Indel	NM_000059.4(BRCA2):c.4030_4035delinsC (p.Asn1344fs)	BRCA2	Pathogenic	13	32912522	32912527	AATGAT	C	reviewed by expert panel	ClinGen:CA10589238
single nucleotide variant	NM_000059.4(BRCA2):c.4051A>T (p.Lys1351Ter)	BRCA2	Pathogenic	13	32912543	32912543	A	T	reviewed by expert panel	ClinGen:CA10589239
Duplication	NM_000059.4(BRCA2):c.4092dup (p.Cys1365fs)	BRCA2	Pathogenic	13	32912583	32912584	T	TA	reviewed by expert panel	ClinGen:CA10589240
Insertion	NM_000059.4(BRCA2):c.4098_4099insCATC (p.Lys1367fs)	BRCA2	Pathogenic	13	32912590	32912591	T	TCATC	reviewed by expert panel	ClinGen:CA10589241
Deletion	NM_000059.4(BRCA2):c.4124del (p.Glu1375fs)	BRCA2	Pathogenic	13	32912616	32912616	GA	G	reviewed by expert panel	ClinGen:CA10589242
Deletion	NM_000059.4(BRCA2):c.4146_4149del (p.Glu1382fs)	BRCA2	Pathogenic	13	32912638	32912641	AAGAT	A	reviewed by expert panel	ClinGen:CA10589243
Duplication	NM_000059.4(BRCA2):c.4169dup (p.Leu1390fs)	BRCA2	Pathogenic	13	32912655	32912656	C	CT	reviewed by expert panel	ClinGen:CA10589244
single nucleotide variant	NM_000059.4(BRCA2):c.4211C>G (p.Ser1404Ter)	BRCA2	Pathogenic	13	32912703	32912703	C	G	reviewed by expert panel	ClinGen:CA10589245
Deletion	NM_000059.4(BRCA2):c.4221del (p.Glu1407fs)	BRCA2	Pathogenic	13	32912712	32912712	GA	G	reviewed by expert panel	ClinGen:CA10589246
Insertion	NM_000059.4(BRCA2):c.4229_4230insA (p.Ala1411fs)	BRCA2	Pathogenic	13	32912721	32912722	C	CA	reviewed by expert panel	ClinGen:CA10589247