遺伝性平滑筋腫症−腎細胞がん症候群

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
Duplication	NM_000143.4(FH):c.1294_1336dup (p.Asn446fs)	FH	Pathogenic	1	241663790	241663791	T	TTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTTTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617114
single nucleotide variant	NM_000143.4(FH):c.1339A>T (p.Lys447Ter)	FH	Pathogenic	1	241663788	241663788	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA324795
Duplication	NM_000143.4(FH):c.1298_1340dup (p.Met449fs)	FH	Pathogenic	1	241663786	241663787	C	CTTGTTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGT	criteria provided, single submitter	ClinGen:CA16609360
Deletion	NM_000143.4(FH):c.1347del (p.Met449fs)	FH	Pathogenic	1	241663780	241663780	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610100
single nucleotide variant	NM_000143.4(FH):c.1351G>T (p.Glu451Ter)	FH	Pathogenic	1	241663776	241663776	C	A	criteria provided, single submitter	-
Insertion	NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs)	FH	Pathogenic	1	241663756	241663757	T	TGTGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA322840
single nucleotide variant	NM_000143.4(FH):c.1390+1G>T	FH	Pathogenic/Likely pathogenic	1	241663736	241663736	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588288,OMIM:136850.0013
Deletion	NM_000143.4(FH):c.1391-2del	FH	Likely pathogenic	1	241661272	241661272	CT	C	criteria provided, single submitter	ClinGen:CA16617113
single nucleotide variant	NM_000143.4(FH):c.1391-2A>T	FH	Pathogenic	1	241661272	241661272	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA323468
single nucleotide variant	NM_000143.4(FH):c.1391-1G>A	FH	Pathogenic	1	241661271	241661271	C	T	criteria provided, single submitter	ClinGen:CA16610035