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
Deletion	NM_000455.5(STK11):c.105_106del (p.Tyr36fs)	STK11	Pathogenic	19	1207016	1207017	ATC	A	criteria provided, single submitter	-
Deletion	NM_000455.5(STK11):c.-1114_290+1del	STK11	Pathogenic	19	1205798	1207202	GGCGTGTCGGGCGCGGAAGGGGGAGGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAAAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAA	G	criteria provided, single submitter	-
Indel	NM_000455.5(STK11):c.541_543delinsGAA (p.Asn181Glu)	STK11	Likely pathogenic	19	1220448	1220450	AAC	GAA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000455.5(STK11):c.540del (p.Asn181fs)	STK11	Pathogenic	19	1220444	1220444	CG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000455.5(STK11):c.1097_1108+1232del	STK11	Pathogenic	19	1223158	1224401	ACTTCACGGTGCCCGGTGAGTCTGGCGGGGGCCCCTGCCCGGCTCTGCTGACTCGGCCAGGATGTCCCACGGGAGCAGGGTGCCTGCCTGTCTGCAACAAGGACAGCTTCTGCCCTCTGGTGGCCAATCCCACGTCCCCAAAGCCTCCAGCCCACCTGCAGGCTGCCTCCGCCCTGCGGGCCGCTGGGACATGGCTGAAAGGTGTGGGGTCAGCGGGGGCACCAGCCCAGGCCTGTCTGGCCAGGAGGGTTCCTCAGGCGTCTCTCCGGGTGCTGCCCAGCCAGGCACCACCCACCGGCCTTGGCCTGAGTCCCAGCAGGAGCAGGCGGGGGAGCCCCAGGGTCGGGGGAGGGTAGGTGAGAGTCAGGGTGCAGGGTGGCCCCTCAGACAGCTGGCATGAGAGAGGGTCCAGTGGCCCTCCCTCCCGTCGTCCCTGAGGCCTGCCCGCTGGCCCTGATGCCGGCCGCCCTTCTTCCCTAGGTGGCGAGGAGGCGTCTGAGGCAGGGCTTAGAGCGGAGCGCGGCTTGCAGAAGAGCGAGGGCTCAGACCTTTCAGGAGAGGAAGCCTCTCGGCCGGCGCCGCAGTAGTGCCTGAGGAGGAGCTCAGGGCCTTAGCGTAGGGGCGGCCCACATTGGCAGCCAGCCCCTCCCCGCCATGCTCCCGGCTTGGCTGTGTTCGGCCCAGGGCTGGGCCGTGTCATAAAGAGTTTTGCAGTGTATCTGCAGGGTGGATGCTTGCTGCGCTCGGGCTGGAGCCTGAGGGGGCTTTCTGCTTTACTGTTTCAGCGGGAAGTGGTGGGCAGGGGCCGGCCTGAGAAGGGGGGTACGCCAGGCAGGTTGGGATGTGAGGACCCAGTGCACAGGGTCCACCCCCGGGCCCGAGGGTCCCAGAATAGTGGGGGCCCTGCAGAGAGCCCCCCATTAGGTCCCTCAGCACTCCTGGGCCCCTCATCAAACCCCTAGGCTCAGCTCAGTAGCTGGTCCCCAGGAGAGTACAGTGTGGGGGCCCCCGAGAGCACAGTGTATGGGGGTCCCCGGGGGGTACAGTGTCTGGGGGCCCCCCAGGAGGATGCAGCATGTGGGGGCCCCCCAGGAGGGTACAGCGTGTGTGGGGCCCCCAGGATCACAGGGTCTCAGCTCCTGGGCTCTTGGATTTGCAGCACCACGACCATCGCGTCTGGTCTGTTGGAACGGGAGGTGCTGCTGGGTACCCTGGTCACTAGGGTGTGCTGGGAGGTGGGGGCCC	A	criteria provided, single submitter	ClinGen:CA658799095
Indel	NM_000455.4(STK11):c.918_919delinsTCC (p.Ser307fs)	STK11	Pathogenic	19	1222003	1222004	CA	TCC	criteria provided, single submitter	ClinGen:CA658799093
Indel	NM_000455.4(STK11):c.821delinsAC (p.Ile274fs)	STK11	Pathogenic	19	1221298	1221298	T	AC	criteria provided, single submitter	ClinGen:CA658799090
Duplication	NM_000455.5(STK11):c.895_901dup (p.Arg301fs)	STK11	Pathogenic	19	1221978	1221979	T	TCTCCATC	criteria provided, single submitter	ClinGen:CA658799092
single nucleotide variant	NM_000455.5(STK11):c.598-1G>A	STK11	Pathogenic	19	1220579	1220579	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402949386
single nucleotide variant	NM_000455.5(STK11):c.468C>G (p.Tyr156Ter)	STK11	Pathogenic	19	1220375	1220375	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA402948779