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
Deletion	NM_000251.3(MSH2):c.518del (p.Leu173fs)	MSH2	Pathogenic	2	47637384	47637384	CT	C	reviewed by expert panel	ClinGen:CA021265
single nucleotide variant	NM_000251.3(MSH2):c.529G>T (p.Glu177Ter)	MSH2	Pathogenic	2	47637395	47637395	G	T	reviewed by expert panel	ClinGen:CA021325
Deletion	NM_000251.3(MSH2):c.530_531del (p.Glu177fs)	MSH2	Pathogenic	2	47637396	47637397	GAA	G	reviewed by expert panel	ClinGen:CA021332
single nucleotide variant	NM_000251.3(MSH2):c.547C>T (p.Gln183Ter)	MSH2	Pathogenic	2	47637413	47637413	C	T	reviewed by expert panel	ClinGen:CA021358
Deletion	NM_000251.3(MSH2):c.551del (p.Phe184fs)	MSH2	Pathogenic	2	47637416	47637416	GT	G	reviewed by expert panel	ClinGen:CA021375
single nucleotide variant	NM_000251.3(MSH2):c.560T>C (p.Leu187Pro)	MSH2	Pathogenic	2	47637426	47637426	T	C	reviewed by expert panel	ClinGen:CA021405,UniProtKB:P43246#VAR_043753
single nucleotide variant	NM_000251.3(MSH2):c.560T>G (p.Leu187Arg)	MSH2	Pathogenic	2	47637426	47637426	T	G	reviewed by expert panel	ClinGen:CA021414,UniProtKB:P43246#VAR_076352
Deletion	NM_000251.3(MSH2):c.561_569del (p.Glu188_Leu190del)	MSH2	Pathogenic	2	47637424	47637432	ATCTTGAGGC	A	reviewed by expert panel	ClinGen:CA021421
single nucleotide variant	NM_000251.3(MSH2):c.577C>T (p.Gln193Ter)	MSH2	Pathogenic	2	47637443	47637443	C	T	reviewed by expert panel	ClinGen:CA021466
Deletion	NM_000251.3(MSH2):c.587del (p.Pro196fs)	MSH2	Pathogenic	2	47637452	47637452	AC	A	reviewed by expert panel	ClinGen:CA021490