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.(211+1_212-1)_(1076+1_1077-1)del (p.Gly71Aspfs*2)	MSH2	Pathogenic	2	47630542	47656880	na	na	reviewed by expert panel	LOVD 3:MSH2_000088
single nucleotide variant	NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)	MSH2	Pathogenic	2	47703631	47703631	C	T	reviewed by expert panel	ClinGen:CA020107
Duplication	NM_000251.3(MSH2):c.2135dup (p.Gly713fs)	MSH2	Pathogenic	2	47703634	47703635	G	GT	reviewed by expert panel	ClinGen:CA020112
Duplication	NM_000251.3(MSH2):c.2141dup (p.Gly715fs)	MSH2	Pathogenic	2	47703640	47703641	G	GC	reviewed by expert panel	ClinGen:CA020127
single nucleotide variant	NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)	MSH2	Pathogenic	2	47703652	47703652	C	T	reviewed by expert panel	ClinGen:CA020138
Deletion	NM_000251.3(MSH2):c.2160_2163del (p.Gly721fs)	MSH2	Pathogenic	2	47703659	47703662	AAAGG	A	reviewed by expert panel	ClinGen:CA020149
Duplication	NM_000251.3(MSH2):c.2167dup (p.Ser723fs)	MSH2	Pathogenic	2	47703666	47703667	C	CT	reviewed by expert panel	ClinGen:CA331473
single nucleotide variant	NM_000251.3(MSH2):c.2191G>T (p.Glu731Ter)	MSH2	Pathogenic	2	47703691	47703691	G	T	reviewed by expert panel	ClinGen:CA020196
Duplication	NM_000251.3(MSH2):c.21dup (p.Thr8fs)	MSH2	Pathogenic	2	47630350	47630351	A	AG	reviewed by expert panel	ClinGen:CA331483
Deletion	NM_000251.3(MSH2):c.2204del (p.Ile735fs)	MSH2	Pathogenic	2	47703704	47703704	AT	A	reviewed by expert panel	ClinGen:CA020222