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_000251.3(MSH2):c.94_103del (p.Thr32fs)	MSH2	Pathogenic	2	47630423	47630432	CCACCACAGTG	C	reviewed by expert panel	ClinGen:CA022560
Duplication	NM_000251.3(MSH2):c.958dup (p.Thr320fs)	MSH2	Pathogenic	2	47643449	47643450	T	TA	reviewed by expert panel	ClinGen:CA022621
single nucleotide variant	NM_000251.3(MSH2):c.970C>T (p.Gln324Ter)	MSH2	Pathogenic	2	47643462	47643462	C	T	reviewed by expert panel	ClinGen:CA022678
Deletion	NM_000251.3(MSH2):c.970_971del (p.Gln324fs)	MSH2	Pathogenic	2	47643462	47643463	TCA	T	reviewed by expert panel	ClinGen:CA022671
Insertion	NM_000251.2(MSH2):c.970_971ins4	MSH2	Pathogenic	2	47643462	47643463	na	na	reviewed by expert panel	-
Duplication	NM_000251.3(MSH2):c.973dup (p.Ser325fs)	MSH2	Pathogenic	2	47643464	47643465	G	GT	reviewed by expert panel	ClinGen:CA022687
single nucleotide variant	NM_000251.3(MSH2):c.989T>C (p.Leu330Pro)	MSH2	Pathogenic	2	47643481	47643481	T	C	reviewed by expert panel	ClinGen:CA022706
single nucleotide variant	NM_000251.3(MSH2):c.997T>C (p.Cys333Arg)	MSH2	Pathogenic	2	47643489	47643489	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA022717
single nucleotide variant	NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)	MSH2	Pathogenic	2	47643490	47643490	G	A	reviewed by expert panel	ClinGen:CA022722,UniProtKB:P43246#VAR_043759
Deletion	NM_000535.5(PMS2):c.(?_-87)_1144+?del	PMS2	Pathogenic	7	6029431	6048737	na	na	reviewed by expert panel	-