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	NC_000019.9:g.(?_852323)_(1222011_?)del	STK11	Pathogenic	19	852323	1222011	na	na	criteria provided, single submitter	-
Deletion	NC_000019.9:g.(?_852323)_(1226652_?)del	STK11	Pathogenic	19	852323	1226652	na	na	criteria provided, single submitter	-
Deletion	NM_000455.4(STK11):c.-1115_*16+?del	STK11	Pathogenic	19	1205798	1226662	na	na	criteria provided, single submitter	-
Deletion	NM_000455.5(STK11):c.-1114_290+1del	STK11	Pathogenic	19	1205798	1207202	GGCGTGTCGGGCGCGGAAGGGGGAGGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAAAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAA	G	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_1206904)_(1226657_?)del	STK11	Pathogenic	19	1206903	1226656	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_1206904)_(1219423_?)del	STK11	Pathogenic	19	1206903	1219422	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_1206908)_(1226652_?)del	STK11	Pathogenic	19	1206907	1226651	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_1206908)_(1221346_?)del	STK11	Pathogenic	19	1206907	1221345	na	na	criteria provided, single submitter	-
Deletion	NM_000455.4(STK11):c.(?_-1)_920+?del	STK11	Pathogenic	19	1206912	1222005	na	na	criteria provided, single submitter	-
Deletion	NM_000455.5(STK11):c.67del (p.Asp23fs)	STK11	Pathogenic	19	1206978	1206978	TG	T	criteria provided, single submitter	ClinGen:CA658656738