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.442C>T (p.Gln148Ter)	FH	Pathogenic	1	241675380	241675380	G	A	criteria provided, single submitter	-
Duplication	NM_000143.4(FH):c.443dup (p.Thr149fs)	FH	Pathogenic	1	241675378	241675379	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_000143.4(FH):c.450T>A (p.Asn150Lys)	FH	Likely pathogenic	1	241675372	241675372	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA345440080
single nucleotide variant	NM_000143.4(FH):c.478A>G (p.Arg160Gly)	FH	Pathogenic/Likely pathogenic	1	241675344	241675344	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581784
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.521C>A (p.Pro174His)	FH	Likely pathogenic	1	241675301	241675301	G	T	criteria provided, single submitter	-
Deletion	NM_000143.4(FH):c.524del (p.Val175fs)	FH	Pathogenic	1	241675298	241675298	CA	C	criteria provided, single submitter	ClinGen:CA16609373
single nucleotide variant	NM_000143.4(FH):c.539A>G (p.His180Arg)	FH	Pathogenic/Likely pathogenic	1	241675283	241675283	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA324566,UniProtKB:P07954#VAR_013499
single nucleotide variant	NM_000143.4(FH):c.554A>C (p.Gln185Pro)	FH	Likely pathogenic	1	241675268	241675268	T	G	criteria provided, single submitter	-
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