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.199del (p.Leu67fs)	STK11	Pathogenic/Likely pathogenic	19	1207111	1207111	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509244
single nucleotide variant	NM_000455.5(STK11):c.200T>C (p.Leu67Pro)	STK11	Pathogenic/Likely pathogenic	19	1207112	1207112	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA022714,UniProtKB:Q15831#VAR_006202,OMIM:602216.0008
Duplication	NM_000455.5(STK11):c.209dup (p.Thr71fs)	STK11	Pathogenic	19	1207120	1207121	G	GA	criteria provided, single submitter	ClinGen:CA645369767
Deletion	NM_000455.5(STK11):c.197_225del (p.Val66fs)	STK11	Pathogenic	19	1207103	1207131	AAGGAGGTGCTGGACTCGGAGACGCTGTGC	A	criteria provided, single submitter	-
Deletion	NM_000455.5(STK11):c.218_230del (p.Cys73fs)	STK11	Pathogenic	19	1207128	1207140	TGTGCAGGAGGGCC	T	criteria provided, single submitter	ClinGen:CA022723
single nucleotide variant	NM_000455.5(STK11):c.250A>T (p.Lys84Ter)	STK11	Pathogenic	19	1207162	1207162	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA022756,OMIM:602216.0006
single nucleotide variant	NM_000455.5(STK11):c.256C>T (p.Arg86Ter)	STK11	Pathogenic	19	1207168	1207168	C	T	criteria provided, single submitter	ClinGen:CA402944528
Deletion	NM_000455.5(STK11):c.-1114_290+1del	STK11	Pathogenic	19	1205798	1207202	GGCGTGTCGGGCGCGGAAGGGGGAGGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAAAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000455.5(STK11):c.290+1G>A	STK11	Pathogenic	19	1207203	1207203	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402944662
Deletion	NM_000455.5(STK11):c.290+2_290+4del	STK11	Likely pathogenic	19	1207204	1207206	GTAA	G	criteria provided, multiple submitters, no conflicts	-