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
single nucleotide variant	NM_000143.4(FH):c.560C>A (p.Ser187Ter)	FH	Pathogenic	1	241672081	241672081	G	T	criteria provided, single submitter	ClinGen:CA16610114
single nucleotide variant	NM_000143.4(FH):c.1445T>G (p.Leu482Ter)	FH	Pathogenic/Likely pathogenic	1	241661216	241661216	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617112
Deletion	NM_000143.4(FH):c.1391-2del	FH	Likely pathogenic	1	241661272	241661272	CT	C	criteria provided, single submitter	ClinGen:CA16617113
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.566A>T (p.Asp189Val)	FH	Likely pathogenic	1	241672075	241672075	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617118
Deletion	NM_000143.4(FH):c.504del (p.Glu168fs)	FH	Pathogenic/Likely pathogenic	1	241675318	241675318	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA1478674
single nucleotide variant	NM_000143.4(FH):c.1439C>G (p.Ser480Ter)	FH	Pathogenic	1	241661222	241661222	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA345450690
single nucleotide variant	NM_000143.4(FH):c.1256C>T (p.Ser419Leu)	FH	Likely pathogenic	1	241663871	241663871	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA345436872
single nucleotide variant	NM_000143.4(FH):c.1236+1G>C	FH	Pathogenic	1	241665742	241665742	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA345437205
single nucleotide variant	NM_000143.4(FH):c.1094G>A (p.Ser365Asn)	FH	Pathogenic/Likely pathogenic	1	241667356	241667356	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA345437940