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_020975.6(RET):c.1879+1G>A	RET	Pathogenic/Likely pathogenic	10	43609124	43609124	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter)	MEN1	Pathogenic/Likely pathogenic	11	64577351	64577351	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA381187598
single nucleotide variant	NM_001370259.2(MEN1):c.784-1G>C	MEN1	Pathogenic/Likely pathogenic	11	64574692	64574692	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA381184025
Deletion	NM_001370259.2(MEN1):c.1602_1618del (p.Ala535fs)	MEN1	Pathogenic/Likely pathogenic	11	64572021	64572037	GGTGCTGGCACCTGAGCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797660
Deletion	NM_001370259.2(MEN1):c.108_122del (p.Leu37_Leu41del)	MEN1	Pathogenic/Likely pathogenic	11	64577460	64577474	CAGCACCAAGGAAAGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369572
single nucleotide variant	NM_001370259.2(MEN1):c.514G>T (p.Asp172Tyr)	MEN1	Pathogenic/Likely pathogenic	11	64575503	64575503	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA381186018
single nucleotide variant	NM_001370259.2(MEN1):c.913-2A>G	MEN1	Pathogenic/Likely pathogenic	11	64573842	64573842	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA381183467
single nucleotide variant	NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu)	MEN1	Pathogenic/Likely pathogenic	11	64573794	64573794	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA381183361
single nucleotide variant	NM_001370259.2(MEN1):c.1049+1G>C	MEN1	Pathogenic/Likely pathogenic	11	64573703	64573703	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA381183126
Deletion	NM_001370259.2(MEN1):c.1665_1668del (p.Ser555fs)	MEN1	Pathogenic/Likely pathogenic	11	64571971	64571974	TCTCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369569