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_000179.3(MSH6):c.1108_1109del (p.Leu370fs)	MSH6	Pathogenic/Likely pathogenic	2	48026229	48026230	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008050
Deletion	NM_000535.7(PMS2):c.1185del (p.Met396fs)	PMS2	Pathogenic	7	6027211	6027211	TG	T	criteria provided, single submitter	ClinGen:CA009283
Deletion	NM_000251.3(MSH2):c.1278_1386+1del	MSH2	Pathogenic	2	47672685	47672794	TAGGAAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATC	T	criteria provided, single submitter	ClinGen:CA273852
single nucleotide variant	NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter)	MSH2	Pathogenic/Likely pathogenic	2	47702388	47702388	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019647
single nucleotide variant	NM_000249.4(MLH1):c.791-1G>A	MLH1	Pathogenic/Likely pathogenic	3	37058996	37058996	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012269
Deletion	NM_001040108.2(MLH3):c.2116del (p.Thr706fs)	MLH3	Likely pathogenic	14	75514243	75514243	GT	G	criteria provided, single submitter	ClinGen:CA204588
single nucleotide variant	NM_003242.6(TGFBR2):c.998T>A (p.Leu333Gln)	TGFBR2	Likely pathogenic	3	30713673	30713673	T	A	criteria provided, single submitter	ClinGen:CA324102
single nucleotide variant	NM_003242.6(TGFBR2):c.1120C>T (p.Pro374Ser)	TGFBR2	Likely pathogenic	3	30713795	30713795	C	T	criteria provided, single submitter	ClinGen:CA320627
single nucleotide variant	NM_003242.6(TGFBR2):c.1255G>T (p.Val419Leu)	TGFBR2	Likely pathogenic	3	30715597	30715597	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA322630
single nucleotide variant	NM_003242.6(TGFBR2):c.1256T>A (p.Val419Glu)	TGFBR2	Likely pathogenic	3	30715598	30715598	T	A	criteria provided, single submitter	ClinGen:CA324927