遺伝性びまん性胃がん

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_004360.5(CDH1):c.2440-2A>G	CDH1	Likely pathogenic	16	68867191	68867191	A	G	reviewed by expert panel	ClinGen:CA396471928
Deletion	NM_004360.4(CDH1):c.2440_2649del	CDH1	Pathogenic	16	68867190	68867399	TTAGAATCTGAAAGCGGCTGATACTGACCCCACAGCCCCGCCTTATGATTCTCTGCTCGTGTTTGACTATGAAGGAAGCGGTTCCGAAGCTGCTAGTCTGAGCTCCCTGAACTCCTCAGAGTCAGACAAAGACCAGGACTATGACTACTTGAACGAATGGGGCAATCGCTTCAAGAAGCTGGCTGACATGTACGGAGGCGGCGAGGACGAC	T	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_68833284)_(68833505_?)del	CDH1	Pathogenic	16	68867187	68867408	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_68833280)_(68833509_?)del	CDH1	Pathogenic	16	68867183	68867412	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004360.5(CDH1):c.2439+1G>T	CDH1	Likely pathogenic	16	68863701	68863701	G	T	criteria provided, single submitter	-
Deletion	NM_004360.5(CDH1):c.2430del (p.Phe810fs)	CDH1	Pathogenic	16	68863688	68863688	AT	A	reviewed by expert panel	ClinGen:CA197715
Deletion	NM_004360.5(CDH1):c.2398del (p.Arg800fs)	CDH1	Pathogenic	16	68863656	68863656	TC	T	reviewed by expert panel	ClinGen:CA281459
Deletion	NM_004360.5(CDH1):c.2387_2406del (p.Arg796fs)	CDH1	Likely pathogenic	16	68863646	68863665	CCCGGTATCTTCCCCGCCCTG	C	reviewed by expert panel	ClinGen:CA658798634
Duplication	NM_004360.5(CDH1):c.2386dup (p.Arg796fs)	CDH1	Likely pathogenic	16	68863642	68863643	T	TC	reviewed by expert panel	OMIM:192090.0006
Deletion	NM_004360.5(CDH1):c.2324del (p.Gly775fs)	CDH1	Pathogenic	16	68863582	68863582	AG	A	reviewed by expert panel	ClinGen:CA16615415