DICER1症候群 - MGenReviews

DICER1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_177438.3(DICER1):c.1501C>T (p.Gln501Ter)	DICER1	Pathogenic	14	95583967	95583967	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_177438.3(DICER1):c.2018C>G (p.Ser673Ter)	DICER1	Pathogenic	14	95579451	95579451	G	C	criteria provided, single submitter	-
Deletion	NM_177438.3(DICER1):c.3402del (p.Gln1135fs)	DICER1	Pathogenic	14	95570331	95570331	GA	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_177438.3(DICER1):c.3909_3910del (p.Ser1304fs)	DICER1	Pathogenic	14	95569823	95569824	GAC	G	criteria provided, single submitter	-
single nucleotide variant	NM_177438.3(DICER1):c.5425G>A (p.Gly1809Arg)	DICER1	Pathogenic	14	95557642	95557642	C	T	reviewed by expert panel	-
single nucleotide variant	NM_177438.3(DICER1):c.3591C>A (p.Cys1197Ter)	DICER1	Pathogenic	14	95570142	95570142	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_177438.3(DICER1):c.4031C>G (p.Ser1344Ter)	DICER1	Pathogenic	14	95569702	95569702	G	C	criteria provided, single submitter	-
Deletion	NM_177438.3(DICER1):c.5261_5364+79del	DICER1	Pathogenic	14	95560146	95560328	CACTATGCCGTCAGAACTCTGAAACTACAGAGACTCCTAGTTAGACCACTTTTTTCAACATCGTTTTGAACAGCACTAACCTCAGAATCCATTCCTTGCATTTCATTCTTCTCAAGCTGAAACTGCACAAAGTCATCAATGACATGGAAGAGCTCAGGAGAGACAGCTTTGAAGTACTTGTGGT	C	criteria provided, single submitter	-
Deletion	NM_177438.3(DICER1):c.5504_5507del (p.Tyr1835fs)	DICER1	Pathogenic	14	95557560	95557563	GGGAT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_177438.3(DICER1):c.1847T>A (p.Leu616Ter)	DICER1	Pathogenic	14	95582064	95582064	A	T	criteria provided, single submitter	-