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.4754C>G (p.Ser1585Ter)	DICER1	Pathogenic	14	95562503	95562503	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576127
Deletion	NM_177438.3(DICER1):c.4407_4410del (p.Ser1470fs)	DICER1	Pathogenic	14	95562847	95562850	GAGAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576129
single nucleotide variant	NM_177438.3(DICER1):c.1498A>T (p.Lys500Ter)	DICER1	Pathogenic	14	95583970	95583970	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576131
Deletion	NM_177438.3(DICER1):c.5315_5316del (p.Phe1772fs)	DICER1	Pathogenic	14	95560273	95560274	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583185
Duplication	NM_177438.3(DICER1):c.4004dup (p.Tyr1335Ter)	DICER1	Pathogenic	14	95569728	95569729	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583199
Deletion	NM_177438.3(DICER1):c.5394del (p.Glu1799fs)	DICER1	Pathogenic	14	95557673	95557673	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586401
Deletion	NM_177438.3(DICER1):c.5096-498_5364+356del	DICER1	Pathogenic	14	95559869	95560991	AGCTACACTGGGCTTTTACTAAAGCTAAACCTGCCTTGGGGTCCGGCAGTGGAGGCCACTTCTTTGGCATGCCTCAATGCTGGAAGCCCTCATGAAGGCGTGGGAAGGGTACCTAACTGAAAGGCCTGGTTCCTTCTCTTCACCTGAATGACCACACAGCCCACAGTGGGGGCAGACAAGTTCAAGAGGCCTACCTGCAAACTGCAGTTCACTCGTGCTCCCACAGAACACAGCACACTGGGTCCCACACCCCTGACCTCCTGCTGTCCCTTTAGACCACTATGCCGTCAGAACTCTGAAACTACAGAGACTCCTAGTTAGACCACTTTTTTCAACATCGTTTTGAACAGCACTAACCTCAGAATCCATTCCTTGCATTTCATTCTTCTCAAGCTGAAACTGCACAAAGTCATCAATGACATGGAAGAGCTCAGGAGAGACAGCTTTGAAGTACTTGTGGTAGTCGTACTTTACAGCCAGCGATGCAAAGATGGTGTTGTTGACCAGGGCAGACCGCAGGTCTGTCAGGACCCCCGGGGAGTGCTGCCGCGGGTCTTCATAAAGGTGCTTGGTTATGAGGTAGTCCAAAATCGCATCTCCCAGGAATTCTAAGCGCTGGTAACAATCTGAGGGGATCCGAAGTGGAACCGTAAGCTTGTGCAGAAGCATTTACACTATCCCCACATAGCAACTGATCCCCAAATCCGAAGAAGATTTGTATTTACAATCATTTTCATACATATATTCTTCAAAAAGGATATCTGACATATCATACTAAAAAGCCTCTGGAAACTAAATTTTAATGACAAATTAAGTACATTTCTTATATAAACTGGGGTCATAAAATCTTCAAGTGGTCAAAAGACTAACGCTTGTTAAGAAGGAAAAACAAAACCTCACAGGTGCTATCATGATCACTGAATGCTTTTCTCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586402
Deletion	NM_177438.3(DICER1):c.5299del (p.His1767fs)	DICER1	Pathogenic	14	95560290	95560290	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586403
Deletion	NM_177438.3(DICER1):c.5251_5255del (p.Lys1751fs)	DICER1	Pathogenic	14	95560334	95560338	GTACTT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586404
Duplication	NM_177438.3(DICER1):c.5194dup (p.Leu1732fs)	DICER1	Pathogenic	14	95560394	95560395	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586405