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.1138dup (p.Met380fs)	FH	Pathogenic	1	241665840	241665841	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA1478537
single nucleotide variant	NM_000143.4(FH):c.1063G>T (p.Glu355Ter)	FH	Pathogenic	1	241667387	241667387	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609363
Deletion	NM_000143.4(FH):c.1041del (p.Gly348fs)	FH	Pathogenic	1	241667409	241667409	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609364
single nucleotide variant	NM_000143.4(FH):c.820G>C (p.Ala274Pro)	FH	Likely pathogenic	1	241669387	241669387	C	G	criteria provided, single submitter	ClinGen:CA16609367
Deletion	NM_000143.4(FH):c.808del (p.Tyr270fs)	FH	Pathogenic	1	241669399	241669399	TA	T	criteria provided, single submitter	ClinGen:CA16609368
Deletion	NM_000143.4(FH):c.722_738+3del	FH	Pathogenic	1	241671900	241671919	ATACCTGCCCAAGAGTAAGTG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609369
single nucleotide variant	NM_000143.4(FH):c.703C>G (p.His235Asp)	FH	Likely pathogenic	1	241671938	241671938	G	C	criteria provided, single submitter	ClinGen:CA16609371
Deletion	NM_000143.4(FH):c.578_583del (p.Thr193_Ala194del)	FH	Pathogenic/Likely pathogenic	1	241672058	241672063	ATTGCTG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609372
single nucleotide variant	NM_000143.4(FH):c.556-2A>T	FH	Pathogenic/Likely pathogenic	1	241672087	241672087	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1478651
Insertion	NM_000143.4(FH):c.553_554insTG (p.Gln185fs)	FH	Pathogenic	1	241675268	241675269	T	TCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA1478668