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.5103C>A (p.Tyr1701Ter)	DICER1	Pathogenic/Likely pathogenic	14	95560486	95560486	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576126
single nucleotide variant	NM_177438.3(DICER1):c.5103C>G (p.Tyr1701Ter)	DICER1	Pathogenic	14	95560486	95560486	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA390865441
single nucleotide variant	NM_177438.3(DICER1):c.5096-12G>A	DICER1	Likely pathogenic	14	95560505	95560505	C	T	reviewed by expert panel	-
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
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.5095+1G>A	DICER1	Likely pathogenic	14	95562161	95562161	C	T	criteria provided, multiple submitters, no conflicts	-
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
single nucleotide variant	NM_177438.3(DICER1):c.4999G>T (p.Glu1667Ter)	DICER1	Pathogenic	14	95562258	95562258	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA390866134
Deletion	NM_177438.3(DICER1):c.4984del (p.Ile1663fs)	DICER1	Pathogenic	14	95562273	95562273	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369628
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