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_000077.5(CDKN2A):c.175_212del (p.Val59fs)	CDKN2A	Pathogenic	9	21971146	21971183	GTTGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCAC	G	criteria provided, single submitter	ClinGen:CA10578843
Deletion	NM_000077.5(CDKN2A):c.212del (p.Asn71fs)	CDKN2A	Pathogenic	9	21971146	21971146	GT	G	criteria provided, single submitter	ClinGen:CA10578844
Indel	NM_000077.5(CDKN2A):c.202_203delinsTT (p.Ala68Leu)	CDKN2A	Likely pathogenic	9	21971155	21971156	GC	AA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578845
single nucleotide variant	NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg)	CDKN2A	Pathogenic/Likely pathogenic	9	21974678	21974678	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578849,UniProtKB:P42771#VAR_001423
single nucleotide variant	NM_000077.5(CDKN2A):c.44G>A (p.Trp15Ter)	CDKN2A	Pathogenic	9	21974783	21974783	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578852
single nucleotide variant	NM_000059.4(BRCA2):c.171C>A (p.Tyr57Ter)	BRCA2	Pathogenic	13	32893317	32893317	C	A	reviewed by expert panel	ClinGen:CA10579446
Deletion	NM_000059.4(BRCA2):c.176del (p.Pro59fs)	BRCA2	Pathogenic	13	32893321	32893321	AC	A	reviewed by expert panel	ClinGen:CA10579447
Deletion	NM_000059.4(BRCA2):c.413_417del (p.Ser137_Cys138insTer)	BRCA2	Pathogenic	13	32899305	32899309	TTCTTG	T	reviewed by expert panel	ClinGen:CA10579457
Duplication	NM_000059.4(BRCA2):c.451_452dup (p.Val151_Thr152insTer)	BRCA2	Pathogenic	13	32900261	32900262	A	ATG	reviewed by expert panel	ClinGen:CA10579459
Deletion	NM_000059.4(BRCA2):c.668del (p.His223fs)	BRCA2	Pathogenic	13	32903616	32903616	CA	C	reviewed by expert panel	ClinGen:CA10579466