ポイツ・イェガース症候群

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_000455.5(STK11):c.923G>T (p.Trp308Leu)	STK11	Likely pathogenic	19	1222986	1222986	G	T	criteria provided, single submitter	ClinGen:CA349711
single nucleotide variant	NM_000455.5(STK11):c.923G>A (p.Trp308Ter)	STK11	Pathogenic/Likely pathogenic	19	1222986	1222986	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402951422
Deletion	NM_000455.5(STK11):c.935_936del (p.Lys312fs)	STK11	Pathogenic	19	1222997	1222998	GAA	G	criteria provided, single submitter	ClinGen:CA16616012
Deletion	NM_000455.5(STK11):c.964del (p.Ile322fs)	STK11	Pathogenic	19	1223027	1223027	CA	C	criteria provided, single submitter	-
Duplication	NM_000455.5(STK11):c.965dup (p.Pro324fs)	STK11	Pathogenic	19	1223027	1223028	A	AT	criteria provided, single submitter	-
Duplication	NM_000455.5(STK11):c.988dup (p.Asp330fs)	STK11	Pathogenic	19	1223049	1223050	A	AG	criteria provided, single submitter	ClinGen:CA273378
Deletion	NM_000455.5(STK11):c.989_996del (p.Asp330fs)	STK11	Pathogenic	19	1223050	1223057	AGGACCGGT	A	criteria provided, single submitter	ClinGen:CA16616228
Deletion	NM_000455.5(STK11):c.1097_1108+1232del	STK11	Pathogenic	19	1223158	1224401	ACTTCACGGTGCCCGGTGAGTCTGGCGGGGGCCCCTGCCCGGCTCTGCTGACTCGGCCAGGATGTCCCACGGGAGCAGGGTGCCTGCCTGTCTGCAACAAGGACAGCTTCTGCCCTCTGGTGGCCAATCCCACGTCCCCAAAGCCTCCAGCCCACCTGCAGGCTGCCTCCGCCCTGCGGGCCGCTGGGACATGGCTGAAAGGTGTGGGGTCAGCGGGGGCACCAGCCCAGGCCTGTCTGGCCAGGAGGGTTCCTCAGGCGTCTCTCCGGGTGCTGCCCAGCCAGGCACCACCCACCGGCCTTGGCCTGAGTCCCAGCAGGAGCAGGCGGGGGAGCCCCAGGGTCGGGGGAGGGTAGGTGAGAGTCAGGGTGCAGGGTGGCCCCTCAGACAGCTGGCATGAGAGAGGGTCCAGTGGCCCTCCCTCCCGTCGTCCCTGAGGCCTGCCCGCTGGCCCTGATGCCGGCCGCCCTTCTTCCCTAGGTGGCGAGGAGGCGTCTGAGGCAGGGCTTAGAGCGGAGCGCGGCTTGCAGAAGAGCGAGGGCTCAGACCTTTCAGGAGAGGAAGCCTCTCGGCCGGCGCCGCAGTAGTGCCTGAGGAGGAGCTCAGGGCCTTAGCGTAGGGGCGGCCCACATTGGCAGCCAGCCCCTCCCCGCCATGCTCCCGGCTTGGCTGTGTTCGGCCCAGGGCTGGGCCGTGTCATAAAGAGTTTTGCAGTGTATCTGCAGGGTGGATGCTTGCTGCGCTCGGGCTGGAGCCTGAGGGGGCTTTCTGCTTTACTGTTTCAGCGGGAAGTGGTGGGCAGGGGCCGGCCTGAGAAGGGGGGTACGCCAGGCAGGTTGGGATGTGAGGACCCAGTGCACAGGGTCCACCCCCGGGCCCGAGGGTCCCAGAATAGTGGGGGCCCTGCAGAGAGCCCCCCATTAGGTCCCTCAGCACTCCTGGGCCCCTCATCAAACCCCTAGGCTCAGCTCAGTAGCTGGTCCCCAGGAGAGTACAGTGTGGGGGCCCCCGAGAGCACAGTGTATGGGGGTCCCCGGGGGGTACAGTGTCTGGGGGCCCCCCAGGAGGATGCAGCATGTGGGGGCCCCCCAGGAGGGTACAGCGTGTGTGGGGCCCCCAGGATCACAGGGTCTCAGCTCCTGGGCTCTTGGATTTGCAGCACCACGACCATCGCGTCTGGTCTGTTGGAACGGGAGGTGCTGCTGGGTACCCTGGTCACTAGGGTGTGCTGGGAGGTGGGGGCCC	A	criteria provided, single submitter	ClinGen:CA658799095