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.709G>C (p.Asp237His)	STK11	Likely pathogenic	19	1220691	1220691	G	C	criteria provided, single submitter	ClinGen:CA402949902
single nucleotide variant	NM_000455.5(STK11):c.734+2T>C	STK11	Likely pathogenic	19	1220718	1220718	T	C	criteria provided, single submitter	ClinGen:CA402950022
single nucleotide variant	NM_000455.5(STK11):c.863-2A>G	STK11	Likely pathogenic	19	1221946	1221946	A	G	criteria provided, single submitter	ClinGen:CA402951135
Deletion	NM_000455.5(STK11):c.890_907del (p.Arg297_Gln302del)	STK11	Likely pathogenic	19	1221972	1221989	AAGAGGTTCTCCATCCGGC	A	criteria provided, single submitter	ClinGen:CA645369740
Deletion	NM_000455.5(STK11):c.290+1_290+7del	STK11	Likely pathogenic	19	1207202	1207208	AAGTAAGT	A	criteria provided, single submitter	ClinGen:CA658656744
Deletion	NM_000455.5(STK11):c.851del (p.Asp284fs)	STK11	Likely pathogenic	19	1221328	1221328	GA	G	criteria provided, single submitter	ClinGen:CA658684212
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.290+2_290+4del	STK11	Likely pathogenic	19	1207204	1207206	GTAA	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000455.5(STK11):c.781_788dup (p.Leu263fs)	STK11	Likely pathogenic	19	1221257	1221258	C	CTACAAGTT	criteria provided, single submitter	-
Deletion	NM_000455.5(STK11):c.291-15_292del	STK11	Likely pathogenic	19	1218400	1218416	TGTCCTCTCTGTCCCAGG	T	criteria provided, single submitter	-