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
Duplication	NM_007294.4(BRCA1):c.3413dup (p.Ser1139fs)	BRCA1	Pathogenic	17	41244134	41244135	T	TC	reviewed by expert panel	ClinGen:CA10589754
single nucleotide variant	NM_007294.4(BRCA1):c.3412G>T (p.Gly1138Ter)	BRCA1	Pathogenic	17	41244136	41244136	C	A	reviewed by expert panel	ClinGen:CA10589755
Deletion	NM_007294.4(BRCA1):c.3396del (p.Asn1132_Leu1133insTer)	BRCA1	Pathogenic	17	41244152	41244152	AG	A	reviewed by expert panel	ClinGen:CA10589756
Deletion	NM_007294.4(BRCA1):c.3395del (p.Asn1132fs)	BRCA1	Pathogenic	17	41244153	41244153	GT	G	reviewed by expert panel	ClinGen:CA10589757
Deletion	NM_007294.4(BRCA1):c.3384_3391del (p.Leu1128_Ile1129insTer)	BRCA1	Pathogenic	17	41244157	41244164	TCTGAAATC	T	reviewed by expert panel	ClinGen:CA10589758
Deletion	NM_007294.4(BRCA1):c.3388del (p.Ser1130fs)	BRCA1	Pathogenic	17	41244160	41244160	GA	G	reviewed by expert panel	ClinGen:CA10589759
single nucleotide variant	NM_007294.4(BRCA1):c.3381T>G (p.Tyr1127Ter)	BRCA1	Pathogenic	17	41244167	41244167	A	C	reviewed by expert panel	ClinGen:CA10589760
Duplication	NM_007294.4(BRCA1):c.3373dup (p.Ser1125fs)	BRCA1	Pathogenic	17	41244174	41244175	G	GA	reviewed by expert panel	ClinGen:CA10589761
Deletion	NM_007294.4(BRCA1):c.3358_3368del (p.Val1120fs)	BRCA1	Pathogenic	17	41244180	41244190	ATCTGTATTAAC	A	reviewed by expert panel	ClinGen:CA10589762
Duplication	NM_007294.4(BRCA1):c.3360dup (p.Asn1121Ter)	BRCA1	Pathogenic	17	41244187	41244188	T	TA	reviewed by expert panel	ClinGen:CA10589763