多発性内分泌腫瘍症1型、2A・2B型／甲状腺髄様がん

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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_001370259.2(MEN1):c.824+1G>T	MEN1	Pathogenic	11	64574650	64574650	C	A	criteria provided, single submitter	ClinGen:CA16613409
single nucleotide variant	NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp)	MEN1	Pathogenic/Likely pathogenic	11	64577447	64577447	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613432
single nucleotide variant	NM_001370259.2(MEN1):c.1412G>A (p.Trp471Ter)	MEN1	Pathogenic	11	64572227	64572227	C	T	criteria provided, single submitter	ClinGen:CA16613444
single nucleotide variant	NM_001370259.2(MEN1):c.1351-2A>G	MEN1	Pathogenic	11	64572290	64572290	T	C	criteria provided, single submitter	ClinGen:CA16613456
single nucleotide variant	NM_001370259.2(MEN1):c.758C>G (p.Ser253Trp)	MEN1	Pathogenic	11	64575049	64575049	G	C	criteria provided, single submitter	ClinGen:CA16613469
single nucleotide variant	NM_001370259.2(MEN1):c.346G>T (p.Glu116Ter)	MEN1	Pathogenic	11	64577236	64577236	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613475
Duplication	NM_001370259.2(MEN1):c.280_284dup (p.Gln96fs)	MEN1	Pathogenic	11	64577297	64577298	G	GGCGGT	criteria provided, single submitter	ClinGen:CA16613482
Insertion	NM_001370259.2(MEN1):c.252_253insTT (p.Ile85fs)	MEN1	Pathogenic	11	64577329	64577330	T	TAA	criteria provided, single submitter	ClinGen:CA16613485
Duplication	NM_001370259.2(MEN1):c.1382_1404dup (p.Glu469fs)	MEN1	Pathogenic	11	64572234	64572235	C	CCTCGGCCTCGGCCGCCTCGGCCT	criteria provided, single submitter	ClinGen:CA16613611
single nucleotide variant	NM_001370259.2(MEN1):c.1328C>A (p.Ser443Tyr)	MEN1	Likely pathogenic	11	64572528	64572528	G	T	criteria provided, single submitter	ClinGen:CA16613613