フォン・ヒッペル・リンドウ病

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
Deletion	NM_000551.4(VHL):c.397del (p.Thr133fs)	VHL	Pathogenic	3	10188252	10188252	CA	C	criteria provided, single submitter	-
Deletion	NM_000551.4(VHL):c.413del (p.Pro138fs)	VHL	Pathogenic	3	10188269	10188269	GC	G	criteria provided, single submitter	-
Indel	NM_000551.4(VHL):c.419_427delinsACAATTATTTGTGCCATCTCTCAA (p.Leu140_Asp143delinsHisAsnTyrLeuCysHisLeuSerAsn)	VHL	Likely pathogenic	3	10188276	10188284	TCAATGTTG	ACAATTATTTGTGCCATCTCTCAA	criteria provided, single submitter	-
Deletion	NM_000551.4(VHL):c.433_439del (p.Gln145fs)	VHL	Pathogenic/Likely pathogenic	3	10188289	10188295	GACAGCCT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.433C>T (p.Gln145Ter)	VHL	Pathogenic	3	10188290	10188290	C	T	criteria provided, single submitter	-
Duplication	NM_000551.4(VHL):c.445dup (p.Ala149fs)	VHL	Pathogenic	3	10188301	10188302	T	TG	criteria provided, single submitter	-
Deletion	NM_000551.4(VHL):c.462del (p.Val155fs)	VHL	Pathogenic/Likely pathogenic	3	10188319	10188319	CA	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000551.4(VHL):c.477dup (p.Glu160fs)	VHL	Pathogenic	3	10191481	10191482	G	GA	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.497T>A (p.Val166Asp)	VHL	Pathogenic	3	10191504	10191504	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.509T>A (p.Val170Asp)	VHL	Pathogenic/Likely pathogenic	3	10191516	10191516	T	A	criteria provided, multiple submitters, no conflicts	-