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.2010del (p.Gly670_Leu671insTer)	MSH6	Pathogenic	2	48027130	48027130	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610913
single nucleotide variant	NM_000179.3(MSH6):c.2735G>A (p.Trp912Ter)	MSH6	Pathogenic	2	48027857	48027857	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610918
Duplication	NM_000179.3(MSH6):c.741dup (p.Arg248fs)	MSH6	Pathogenic/Likely pathogenic	2	48025856	48025857	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610928
Deletion	NM_000179.3(MSH6):c.873_874del (p.Asn291fs)	MSH6	Pathogenic	2	48025994	48025995	AAC	A	criteria provided, single submitter	ClinGen:CA16610929
Deletion	NM_000179.3(MSH6):c.999del (p.Lys334fs)	MSH6	Pathogenic	2	48026120	48026120	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610941
single nucleotide variant	NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg)	MSH6	Pathogenic	2	48030574	48030574	T	G	reviewed by expert panel	ClinGen:CA16610953
Deletion	NM_000179.3(MSH6):c.3253del (p.Thr1085fs)	MSH6	Pathogenic/Likely pathogenic	2	48030639	48030639	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610955
Deletion	NM_000179.3(MSH6):c.1333_1334del (p.Val444_Ser445insTer)	MSH6	Pathogenic	2	48026455	48026456	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610956
single nucleotide variant	NM_000179.3(MSH6):c.1572C>A (p.Tyr524Ter)	MSH6	Pathogenic	2	48026694	48026694	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610964
single nucleotide variant	NM_000179.3(MSH6):c.3973A>T (p.Lys1325Ter)	MSH6	Pathogenic	2	48033762	48033762	A	T	criteria provided, single submitter	ClinGen:CA16610965