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
Deletion	NM_000059.4(BRCA2):c.3723del (p.Phe1241fs)	BRCA2	Pathogenic	13	32912213	32912213	GT	G	reviewed by expert panel	ClinGen:CA10589217
Duplication	NM_000059.4(BRCA2):c.3724dup (p.Ser1242fs)	BRCA2	Pathogenic	13	32912215	32912216	T	TA	reviewed by expert panel	ClinGen:CA10589218
Duplication	NM_000059.4(BRCA2):c.3728dup (p.Asp1243fs)	BRCA2	Pathogenic	13	32912219	32912220	G	GA	reviewed by expert panel	ClinGen:CA10589219
Deletion	NM_000059.4(BRCA2):c.3739del (p.Ile1247fs)	BRCA2	Pathogenic	13	32912231	32912231	TA	T	reviewed by expert panel	ClinGen:CA10589220
Deletion	NM_000059.4(BRCA2):c.3741del (p.Ser1248fs)	BRCA2	Pathogenic	13	32912232	32912232	AT	A	reviewed by expert panel	ClinGen:CA10589221
Duplication	NM_000059.4(BRCA2):c.3779dup (p.Leu1260fs)	BRCA2	Pathogenic	13	32912268	32912269	G	GT	reviewed by expert panel	ClinGen:CA10589222
single nucleotide variant	NM_000059.4(BRCA2):c.3812C>G (p.Ser1271Ter)	BRCA2	Pathogenic	13	32912304	32912304	C	G	reviewed by expert panel	ClinGen:CA10589223
Insertion	NM_000059.4(BRCA2):c.3814_3815insC (p.Met1272fs)	BRCA2	Pathogenic	13	32912306	32912307	A	AC	reviewed by expert panel	ClinGen:CA10589224
Duplication	NM_000059.4(BRCA2):c.3819dup (p.Lys1274Ter)	BRCA2	Pathogenic	13	32912308	32912309	G	GT	reviewed by expert panel	ClinGen:CA10589225
Deletion	NM_000059.4(BRCA2):c.3829_3830del (p.Asn1277fs)	BRCA2	Pathogenic	13	32912319	32912320	GAA	G	reviewed by expert panel	ClinGen:CA10589226