家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.3059del (p.Pro1020fs)	BRCA1	Pathogenic	17	41244489	41244489	TG	T	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.3621del (p.Lys1208fs)	BRCA1	Pathogenic	17	41243927	41243927	TC	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.82_147del (p.Leu29_Ser50del)	BRCA2	Likely pathogenic	13	32893227	32893292	TAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTATAATTCTGAACCTGCAGAAGA	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.6256_6259del (p.Ile2086fs)	BRCA2	Pathogenic	13	32914747	32914750	TAATC	T	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.7068dup (p.Leu2357fs)	BRCA2	Pathogenic	13	32929055	32929056	A	AT	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5879del (p.Cys1960fs)	BRCA2	Pathogenic	13	32914371	32914371	TG	T	criteria provided, single submitter	-
Duplication	NM_024675.4(PALB2):c.1652dup (p.Tyr551Ter)	PALB2	Pathogenic	16	23646214	23646215	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.778C>T (p.Gln260Ter)	PALB2	Pathogenic	16	23647089	23647089	G	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs)	BRCA2	Pathogenic/Likely pathogenic	13	32971125	32971126	CTG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000077.5(CDKN2A):c.238del (p.Arg80fs)	CDKN2A	Likely pathogenic	9	21971120	21971120	CG	C	criteria provided, single submitter	-