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
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
single nucleotide variant	NM_177438.3(DICER1):c.5123G>A (p.Gly1708Glu)	DICER1	Pathogenic/Likely pathogenic	14	95560466	95560466	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586406
single nucleotide variant	NM_177438.3(DICER1):c.5104C>T (p.Gln1702Ter)	DICER1	Pathogenic	14	95560485	95560485	G	A	reviewed by expert panel	ClinGen:CA10586407
single nucleotide variant	NM_177438.3(DICER1):c.5095+1G>C	DICER1	Pathogenic	14	95562161	95562161	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586408
single nucleotide variant	NM_177438.3(DICER1):c.5053C>T (p.Gln1685Ter)	DICER1	Pathogenic	14	95562204	95562204	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586409
Duplication	NM_177438.3(DICER1):c.4960_4961dup (p.Asp1654fs)	DICER1	Pathogenic	14	95562295	95562296	A	ATC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586410
Deletion	NM_177438.3(DICER1):c.4626del (p.Gln1542fs)	DICER1	Pathogenic	14	95562631	95562631	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586411