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
Duplication	NM_177438.3(DICER1):c.3957dup (p.Asp1320fs)	DICER1	Pathogenic/Likely pathogenic	14	95569775	95569776	C	CG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_177438.3(DICER1):c.5261_5364+79del	DICER1	Pathogenic	14	95560146	95560328	CACTATGCCGTCAGAACTCTGAAACTACAGAGACTCCTAGTTAGACCACTTTTTTCAACATCGTTTTGAACAGCACTAACCTCAGAATCCATTCCTTGCATTTCATTCTTCTCAAGCTGAAACTGCACAAAGTCATCAATGACATGGAAGAGCTCAGGAGAGACAGCTTTGAAGTACTTGTGGT	C	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	-
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.1510-1G>A	DICER1	Likely pathogenic	14	95583033	95583033	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_177438.3(DICER1):c.3682C>T (p.Gln1228Ter)	DICER1	Likely pathogenic	14	95570051	95570051	G	A	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	-
Deletion	NM_177438.3(DICER1):c.3909_3910del (p.Ser1304fs)	DICER1	Pathogenic	14	95569823	95569824	GAC	G	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	-
single nucleotide variant	NM_177438.3(DICER1):c.2018C>G (p.Ser673Ter)	DICER1	Pathogenic	14	95579451	95579451	G	C	criteria provided, single submitter	-