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_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_000179.3(MSH6):c.4002-1G>A	MSH6	Likely pathogenic	2	48033917	48033917	G	A	criteria provided, single submitter	ClinGen:CA346761618
single nucleotide variant	NM_000179.3(MSH6):c.4002-2A>G	MSH6	Likely pathogenic	2	48033916	48033916	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582095
Inversion	NM_000179.3(MSH6):c.4002-31_4002-8inv	MSH6	Pathogenic	2	48033887	48033910	AAACTTTTTTTTTTTTTTTTTTAA	TTAAAAAAAAAAAAAAAAAAGTTT	reviewed by expert panel	-
single nucleotide variant	NM_000179.3(MSH6):c.4001+2T>C	MSH6	Pathogenic	2	48033792	48033792	T	C	reviewed by expert panel	ClinGen:CA015138
single nucleotide variant	NM_000179.3(MSH6):c.4001+1G>C	MSH6	Likely pathogenic	2	48033791	48033791	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA346761612
single nucleotide variant	NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)	MSH6	Pathogenic	2	48033790	48033790	G	A	reviewed by expert panel	ClinGen:CA015202
Duplication	NM_000179.3(MSH6):c.3999dup (p.Arg1334fs)	MSH6	Pathogenic/Likely pathogenic	2	48033785	48033786	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA279676
Duplication	NM_000179.3(MSH6):c.3996_4000dup (p.Arg1334fs)	MSH6	Pathogenic	2	48033784	48033785	T	TATTTC	reviewed by expert panel	ClinGen:CA330585
single nucleotide variant	NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)	MSH6	Pathogenic	2	48033780	48033780	C	T	reviewed by expert panel	ClinGen:CA015060