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
single nucleotide variant	NM_000059.4(BRCA2):c.3280A>T (p.Lys1094Ter)	BRCA2	Pathogenic	13	32911772	32911772	A	T	reviewed by expert panel	ClinGen:CA017703
Duplication	NM_000059.4(BRCA2):c.3291dup (p.Asn1098Ter)	BRCA2	Pathogenic	13	32911779	32911780	A	AT	reviewed by expert panel	ClinGen:CA273052
Deletion	NM_000059.4(BRCA2):c.3641del (p.Val1214fs)	BRCA2	Pathogenic	13	32912133	32912133	GT	G	reviewed by expert panel	ClinGen:CA018454
single nucleotide variant	NM_007294.4(BRCA1):c.4468G>T (p.Glu1490Ter)	BRCA1	Pathogenic	17	41228521	41228521	C	A	reviewed by expert panel	ClinGen:CA002864
single nucleotide variant	NM_007294.4(BRCA1):c.4358-2786G>A	BRCA1	Likely pathogenic	17	41231417	41231417	C	T	criteria provided, single submitter	ClinGen:CA002798
Deletion	NM_007294.4(BRCA1):c.5133del (p.Lys1711fs)	BRCA1	Pathogenic	17	41215910	41215910	AT	A	reviewed by expert panel	ClinGen:CA003259
Indel	NM_007294.4(BRCA1):c.4837_4838delinsGCC (p.Ser1613fs)	BRCA1	Pathogenic	17	41223093	41223094	CT	GGC	reviewed by expert panel	ClinGen:CA003043
Deletion	NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs)	CDKN2A	Pathogenic	9	21971105	21971118	GCGTCGTGCACGGGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA299024
Deletion	NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs)	CDKN2A	Pathogenic	9	21971115	21971133	CGGGTCGGGTGAGAGTGGCG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA299023
single nucleotide variant	NM_000077.5(CDKN2A):c.151-1G>C	CDKN2A	Pathogenic	9	21971208	21971208	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA299032