バート・ホッグ・デュベ症候群

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_144997.7(FLCN):c.237_240dup (p.Met81fs)	FLCN	Pathogenic	17	17131211	17131212	T	TGTCC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_144997.7(FLCN):c.241_242del (p.Met81fs)	FLCN	Pathogenic	17	17131210	17131211	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043012
single nucleotide variant	NM_144997.7(FLCN):c.249+1G>T	FLCN	Likely pathogenic	17	17131202	17131202	C	A	criteria provided, single submitter	ClinGen:CA16615127
single nucleotide variant	NM_144997.7(FLCN):c.250-2A>G	FLCN	Pathogenic/Likely pathogenic	17	17129638	17129638	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA224166,OMIM:607273.0014
single nucleotide variant	NM_144997.7(FLCN):c.250-1G>A	FLCN	Pathogenic/Likely pathogenic	17	17129637	17129637	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA191617
Deletion	NM_144997.7(FLCN):c.296del (p.Asp99fs)	FLCN	Pathogenic	17	17129590	17129590	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224167
Deletion	NM_144997.7(FLCN):c.312del (p.Lys105fs)	FLCN	Pathogenic	17	17129574	17129574	TA	T	criteria provided, single submitter	-
Indel	NM_144997.7(FLCN):c.319_320delinsCAC (p.Val107fs)	FLCN	Pathogenic	17	17129566	17129567	AC	GTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA224168
single nucleotide variant	NM_144997.7(FLCN):c.346C>T (p.Gln116Ter)	FLCN	Pathogenic	17	17129540	17129540	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224169
Duplication	NM_144997.7(FLCN):c.347dup (p.Leu117fs)	FLCN	Pathogenic	17	17129538	17129539	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA8416448