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
Deletion	NC_000016.9:g.(?_68842321)_(68867407_?)del	CDH1	Pathogenic	16	68842321	68867407	na	na	criteria provided, single submitter	-
Deletion	NM_004360.4(CDH1):c.2440_2649del	CDH1	Pathogenic	16	68867190	68867399	TTAGAATCTGAAAGCGGCTGATACTGACCCCACAGCCCCGCCTTATGATTCTCTGCTCGTGTTTGACTATGAAGGAAGCGGTTCCGAAGCTGCTAGTCTGAGCTCCCTGAACTCCTCAGAGTCAGACAAAGACCAGGACTATGACTACTTGAACGAATGGGGCAATCGCTTCAAGAAGCTGGCTGACATGTACGGAGGCGGCGAGGACGAC	T	criteria provided, single submitter	-
single nucleotide variant	NM_004360.5(CDH1):c.2506G>T (p.Glu836Ter)	CDH1	Pathogenic	16	68867259	68867259	G	T	reviewed by expert panel	ClinGen:CA396472215
Duplication	NM_004360.5(CDH1):c.2490dup (p.Leu831fs)	CDH1	Likely pathogenic	16	68867242	68867243	T	TG	reviewed by expert panel	ClinGen:CA645369680
Deletion	NM_004360.5(CDH1):c.2474del (p.Pro825fs)	CDH1	Pathogenic	16	68867224	68867224	GC	G	criteria provided, single submitter	-
Duplication	NM_004360.5(CDH1):c.2474dup (p.Pro826fs)	CDH1	Pathogenic	16	68867223	68867224	G	GC	reviewed by expert panel	ClinGen:CA658658499
single nucleotide variant	NM_004360.5(CDH1):c.2446A>T (p.Lys816Ter)	CDH1	Likely pathogenic	16	68867199	68867199	A	T	reviewed by expert panel	ClinGen:CA396471960
Deletion	NM_004360.5(CDH1):c.2444del (p.Leu815fs)	CDH1	Likely pathogenic	16	68867197	68867197	CT	C	criteria provided, single submitter	-
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	NC_000016.10:g.(?_68828168)_(68829803_?)del	CDH1	Pathogenic	16	68862071	68863706	na	na	criteria provided, single submitter	-