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_000179.3(MSH6):c.4001+1G>C	MSH6	Likely pathogenic	2	48033791	48033791	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA346761612
Deletion	NM_000179.2(MSH6):c.458-?_4001+?del	MSH6	Pathogenic	2	48023033	48033790	na	na	criteria provided, single submitter	-
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
Insertion	NM_000179.3(MSH6):c.3984_3985insATCA (p.Ser1329fs)	MSH6	Pathogenic	2	48033773	48033774	G	GATCA	reviewed by expert panel	ClinGen:CA015027
Duplication	NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)	MSH6	Pathogenic	2	48033769	48033770	A	ATCAG	reviewed by expert panel	ClinGen:CA015007
Deletion	NM_000179.3(MSH6):c.3955_3980del (p.Lys1319fs)	MSH6	Pathogenic	2	48033743	48033768	GAAAAGCAAGAGAATTTGAGAAGATGA	G	criteria provided, single submitter	ClinGen:CA10578169
Duplication	NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)	MSH6	Pathogenic/Likely pathogenic	2	48033767	48033768	G	GAATC	criteria provided, multiple submitters, no conflicts	ClinGen:CA014990