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.2026T>C (p.Ser676Pro)	MSH2	Likely pathogenic	2	47703526	47703526	T	C	criteria provided, single submitter	-
Deletion	NM_000251.3(MSH2):c.2046_2047del (p.Val684fs)	MSH2	Pathogenic	2	47703546	47703547	CTG	C	reviewed by expert panel	ClinGen:CA019895
single nucleotide variant	NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg)	MSH2	Pathogenic	2	47703547	47703547	G	A	reviewed by expert panel	ClinGen:CA019900
Duplication	NM_000251.2(MSH2):c.2048_2111dup (p.Ile704Metfs)	MSH2	Pathogenic	2	47703547	47703548	G	GGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCAT	reviewed by expert panel	ClinGen:CA331444
Deletion	NM_000251.3(MSH2):c.204del (p.Pro69fs)	MSH2	Pathogenic	2	47630534	47630534	TG	T	reviewed by expert panel	ClinGen:CA019912
single nucleotide variant	NM_000251.3(MSH2):c.2063T>G (p.Met688Arg)	MSH2	Pathogenic	2	47703563	47703563	T	G	reviewed by expert panel	ClinGen:CA019937
Duplication	NM_000251.3(MSH2):c.2071dup (p.Ile691fs)	MSH2	Pathogenic	2	47703568	47703569	C	CA	reviewed by expert panel	ClinGen:CA019953
single nucleotide variant	NM_000251.3(MSH2):c.2074G>C (p.Gly692Arg)	MSH2	Likely pathogenic	2	47703574	47703574	G	C	reviewed by expert panel	ClinGen:CA019963,UniProtKB:P43246#VAR_009250
Deletion	NM_000251.3(MSH2):c.2074_2081del (p.Gly692fs)	MSH2	Pathogenic	2	47703572	47703579	ATTGGGTGT	A	reviewed by expert panel	ClinGen:CA019958
single nucleotide variant	NM_000251.3(MSH2):c.2075G>T (p.Gly692Val)	MSH2	Likely pathogenic	2	47703575	47703575	G	T	reviewed by expert panel	ClinGen:CA019969