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_000077.5(CDKN2A):c.159G>C (p.Met53Ile)	CDKN2A	Pathogenic	9	21971199	21971199	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA120391,UniProtKB:P42771#VAR_001424,OMIM:600160.0007
single nucleotide variant	NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro)	CDKN2A	Pathogenic/Likely pathogenic	9	21974756	21974756	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA120395,UniProtKB:P42771#VAR_001414,OMIM:600160.0008
single nucleotide variant	NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp)	CDKN2A	Pathogenic	9	21970981	21970981	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA120398,UniProtKB:P42771#VAR_001479,OMIM:600160.0013
single nucleotide variant	NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly)	CDKN2A	Pathogenic/Likely pathogenic	9	21971182	21971182	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA120402,UniProtKB:P42771#VAR_001427,OMIM:600160.0016
single nucleotide variant	NM_000077.5(CDKN2A):c.167G>T (p.Ser56Ile)	CDKN2A	Pathogenic/Likely pathogenic	9	21971191	21971191	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA120412,UniProtKB:P42771#VAR_001425,OMIM:600160.0018
single nucleotide variant	NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly)	BRCA1	Pathogenic	17	41258495	41258495	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA001250,UniProtKB:P38398#VAR_007758,OMIM:113705.0001
single nucleotide variant	NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)	BRCA1	Pathogenic	17	41258504	41258504	A	C	reviewed by expert panel	BRCA1-HCI:BRCA1_00099,ClinGen:CA001182,UniProtKB:P38398#VAR_007757,OMIM:113705.0002
Deletion	NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)	BRCA1	Pathogenic	17	41246334	41246373	TGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1294&base_change=del 40,ClinGen:CA000776,OMIM:113705.0006
Deletion	NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs)	BRCA1	Pathogenic	17	41244866	41244867	GTT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2800&base_change=del AA,ClinGen:CA001761,OMIM:113705.0008
Deletion	NM_007294.4(BRCA1):c.3005del (p.Asn1002fs)	BRCA1	Pathogenic	17	41244543	41244543	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3121&base_change=del A,Breast Cancer Information Core (BIC) (BRCA1):3124&base_change=del A,ClinGen:CA001956,OMIM:113705.0010