ポリメラーゼ校正関連ポリポーシス

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_002691.4(POLD1):c.1421T>C (p.Leu474Pro)	POLD1	Pathogenic/Likely pathogenic	19	50909701	50909701	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA170564,UniProtKB:P28340#VAR_071966,OMIM:174761.0004
single nucleotide variant	NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn)	POLD1	Pathogenic/Likely pathogenic	19	50909713	50909713	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA130715,UniProtKB:P28340#VAR_069335,OMIM:174761.0001
Indel	NM_006231.4(POLE):c.6651_6657+6delinsTGC	POLE	Likely pathogenic	12	133202225	133202237	ACTCACCAGGTCC	GCA	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.6434_6438del (p.Arg2145fs)	POLE	Pathogenic	12	133202796	133202800	GGTCTC	G	criteria provided, single submitter	ClinGen:CA658798011
Deletion	NC_000012.12:g.(?_132632305)_(132632805_?)del	POLE	Pathogenic	12	133208891	133209391	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.6330+1G>A	POLE	Likely pathogenic	12	133208900	133208900	C	T	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.6273_6280del (p.Gly2092fs)	POLE	Pathogenic	12	133208951	133208958	TGGGAACCG	T	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.6072del (p.Pro2024_Val2025insTer)	POLE	Pathogenic	12	133209314	133209314	CG	C	criteria provided, single submitter	ClinGen:CA6892286
Deletion	NM_006231.4(POLE):c.6026del (p.His2009fs)	POLE	Pathogenic	12	133209360	133209360	GT	G	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.6023del (p.Tyr2008fs)	POLE	Pathogenic	12	133209363	133209363	GT	G	criteria provided, single submitter	-