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.129T>G (p.Tyr43Ter)	MSH2	Pathogenic	2	47630459	47630459	T	G	reviewed by expert panel	ClinGen:CA017923
Indel	NM_000251.2(MSH2):c.1311_1334del24insNM_000251.1:c.1338_1361inv24 (p.Thr438_Ser445delinsPheSerLysPheGlnGluMetIle)	MSH2	Pathogenic	2	47672721	47672744	na	na	reviewed by expert panel	-
single nucleotide variant	NM_000251.3(MSH2):c.1319T>C (p.Leu440Pro)	MSH2	Pathogenic	2	47672729	47672729	T	C	reviewed by expert panel	ClinGen:CA017968
Duplication	NM_000251.3(MSH2):c.1321dup (p.Thr441fs)	MSH2	Pathogenic	2	47672730	47672731	T	TA	reviewed by expert panel	ClinGen:CA017993
Insertion	NM_000251.3(MSH2):c.1340_1341insGG (p.Phe447fs)	MSH2	Pathogenic	2	47672750	47672751	T	TGG	reviewed by expert panel	ClinGen:CA018011
single nucleotide variant	NM_000251.3(MSH2):c.1345A>T (p.Lys449Ter)	MSH2	Pathogenic	2	47672755	47672755	A	T	reviewed by expert panel	ClinGen:CA018043
Deletion	NM_000251.3(MSH2):c.1345_1348del (p.Lys449fs)	MSH2	Pathogenic	2	47672755	47672758	CAAGT	C	reviewed by expert panel	ClinGen:CA018036
Deletion	NM_000251.3(MSH2):c.1352_1353del (p.Gln451fs)	MSH2	Pathogenic	2	47672762	47672763	CAG	C	reviewed by expert panel	ClinGen:CA018067
single nucleotide variant	NM_000251.3(MSH2):c.1354G>T (p.Glu452Ter)	MSH2	Pathogenic	2	47672764	47672764	G	T	reviewed by expert panel	ClinGen:CA018073
single nucleotide variant	NM_000251.3(MSH2):c.1358T>A (p.Met453Lys)	MSH2	Pathogenic	2	47672768	47672768	T	A	reviewed by expert panel	ClinGen:CA018085