リンチ症候群 - MGenReviews

リンチ症候群

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_000251.3(MSH2):c.1865C>T (p.Pro622Leu)	MSH2	Pathogenic	2	47702269	47702269	C	T	reviewed by expert panel	ClinGen:CA019478,UniProtKB:P43246#VAR_004482,OMIM:609309.0001
single nucleotide variant	NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)	MSH2	Pathogenic	2	47657020	47657020	C	T	reviewed by expert panel	ClinGen:CA017519,OMIM:609309.0003
single nucleotide variant	NM_000251.3(MSH2):c.1915C>T (p.His639Tyr)	MSH2	Pathogenic	2	47702319	47702319	C	T	reviewed by expert panel	ClinGen:CA019553,UniProtKB:P43246#VAR_004483,OMIM:609309.0004
Deletion	NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)	MSH2	Pathogenic	2	47702190	47702192	CAAT	C	reviewed by expert panel	ClinGen:CA019297,OMIM:609309.0005
single nucleotide variant	NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter)	MSH2	Pathogenic	2	47702205	47702205	C	T	reviewed by expert panel	ClinGen:CA019344,OMIM:609309.0006
single nucleotide variant	NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)	MSH2	Likely pathogenic	2	47693857	47693857	G	C	reviewed by expert panel	OMIM:609309.0007,ClinGen:CA018643,UniProtKB:P43246#VAR_004479
Deletion	NM_000251.3(MSH2):c.2113del (p.Val705fs)	MSH2	Pathogenic	2	47703613	47703613	TG	T	reviewed by expert panel	ClinGen:CA020044,OMIM:609309.0008
Duplication	NM_000251.3(MSH2):c.269_290dup (p.Tyr98fs)	MSH2	Pathogenic	2	47635595	47635596	A	AAAAGATCTTCTTCTGGTTCGTC	reviewed by expert panel	ClinGen:CA251947,OMIM:609309.0009
single nucleotide variant	NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)	MSH2	Pathogenic	2	47702310	47702310	G	C	reviewed by expert panel	OMIM:609309.0012,ClinGen:CA019533,UniProtKB:P43246#VAR_012944
Deletion	NM_000251.3(MSH2):c.454del (p.Met152fs)	MSH2	Pathogenic	2	47637317	47637317	TA	T	reviewed by expert panel	ClinGen:CA021176,OMIM:609309.0016