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.904+1G>A	FH	Pathogenic/Likely pathogenic	1	241669302	241669302	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000143.4(FH):c.797dup (p.Met266fs)	FH	Pathogenic	1	241669409	241669410	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA320163
single nucleotide variant	NM_000143.4(FH):c.736C>T (p.Gln246Ter)	FH	Pathogenic	1	241671905	241671905	G	A	criteria provided, single submitter	ClinGen:CA324662
single nucleotide variant	NM_000143.4(FH):c.703C>T (p.His235Tyr)	FH	Pathogenic/Likely pathogenic	1	241671938	241671938	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA323994
single nucleotide variant	NM_000143.4(FH):c.688A>G (p.Lys230Glu)	FH	Pathogenic	1	241671953	241671953	T	C	criteria provided, single submitter	ClinGen:CA323255
single nucleotide variant	NM_000143.4(FH):c.584T>C (p.Met195Thr)	FH	Pathogenic/Likely pathogenic	1	241672057	241672057	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA324917
single nucleotide variant	NM_000143.4(FH):c.554A>G (p.Gln185Arg)	FH	Pathogenic/Likely pathogenic	1	241675268	241675268	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA320867,UniProtKB:P07954#VAR_013500
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.439A>G (p.Thr147Ala)	FH	Pathogenic/Likely pathogenic	1	241675383	241675383	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA322337
Deletion	NM_000143.4(FH):c.295_301del (p.Leu99fs)	FH	Pathogenic	1	241676980	241676986	CGCTTCAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA324132