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.929T>C (p.Leu310Pro)	MSH2	Pathogenic	2	47641544	47641544	T	C	reviewed by expert panel	ClinGen:CA022549
single nucleotide variant	NM_000251.3(MSH2):c.929T>G (p.Leu310Arg)	MSH2	Pathogenic	2	47641544	47641544	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA022554
single nucleotide variant	NM_000251.3(MSH2):c.942+1G>T	MSH2	Likely pathogenic	2	47641558	47641558	G	T	reviewed by expert panel	ClinGen:CA022570
single nucleotide variant	NM_000251.3(MSH2):c.942+2T>G	MSH2	Likely pathogenic	2	47641559	47641559	T	G	reviewed by expert panel	ClinGen:CA022580
Deletion	NM_000251.3(MSH2):c.942+2del	MSH2	Likely pathogenic	2	47641559	47641559	GT	G	reviewed by expert panel	ClinGen:CA331712
single nucleotide variant	NM_000251.3(MSH2):c.942G>A (p.Gln314=)	MSH2	Pathogenic	2	47641557	47641557	G	A	reviewed by expert panel	ClinGen:CA022591
single nucleotide variant	NM_000251.3(MSH2):c.943-1G>A	MSH2	Likely pathogenic	2	47643434	47643434	G	A	reviewed by expert panel	ClinGen:CA022598
single nucleotide variant	NM_000251.3(MSH2):c.943-1G>C	MSH2	Likely pathogenic	2	47643434	47643434	G	C	reviewed by expert panel	ClinGen:CA022602
single nucleotide variant	NM_000251.3(MSH2):c.943-2A>G	MSH2	Likely pathogenic	2	47643433	47643433	A	G	reviewed by expert panel	ClinGen:CA022606
Deletion	NM_000251.1(MSH2):c.943-926_1077-1449del	MSH2	Pathogenic	2	47642509	47655432	na	na	reviewed by expert panel	-