家族性副甲状腺機能亢進症 (MEN以外)

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_000001.11:g.(?_193122191)_(193122341_?)del	CDC73	Pathogenic	1	193091321	193091471	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_193236246)_(193236366_?)del	CDC73	Pathogenic	1	193205376	193205496	na	na	criteria provided, single submitter	-
Duplication	NM_024529.5(CDC73):c.12_31dup (p.Tyr11fs)	CDC73	Pathogenic	1	193091339	193091340	C	CGTGCTTAGCGTCCTGCGACA	criteria provided, single submitter	-
single nucleotide variant	NM_024529.5(CDC73):c.1A>G (p.Met1Val)	CDC73	Likely pathogenic	1	193091331	193091331	A	G	criteria provided, single submitter	-
Deletion	NM_024529.5(CDC73):c.53_54del (p.Ile18fs)	CDC73	Pathogenic	1	193091383	193091384	ATT	A	criteria provided, single submitter	-
Indel	NM_000388.4(CASR):c.199delinsTTCGCT (p.Gly67fs)	CASR	Pathogenic	3	121975941	121975941	G	TTCGCT	criteria provided, single submitter	-
Deletion	NM_000388.4(CASR):c.396_410del (p.Glu133_Ser137del)	CASR	Pathogenic	3	121976135	121976149	GCTCAGAGCACATTCC	G	criteria provided, single submitter	-
Duplication	NM_018646.6(TRPV6):c.530_533dup (p.Arg179fs)	TRPV6	Pathogenic	7	142574968	142574969	G	GGCAA	criteria provided, multiple submitters, no conflicts	OMIM:606680.0001
single nucleotide variant	NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr)	TRPV6	Pathogenic/Likely pathogenic	7	142574530	142574530	A	G	criteria provided, multiple submitters, no conflicts	OMIM:606680.0003
single nucleotide variant	NM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln)	TRPV6	Likely pathogenic	7	142572886	142572886	C	T	criteria provided, single submitter	OMIM:606680.0002