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
single nucleotide variant	NM_000551.4(VHL):c.376G>T (p.Asp126Tyr)	VHL	Likely pathogenic	3	10188233	10188233	G	T	criteria provided, single submitter	ClinGen:CA020319,UniProtKB:P40337#VAR_034994,OMIM:608537.0022
single nucleotide variant	NM_000551.4(VHL):c.488T>C (p.Leu163Pro)	VHL	Likely pathogenic	3	10191495	10191495	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020423,UniProtKB:P40337#VAR_034998,OMIM:608537.0018
single nucleotide variant	NM_000551.4(VHL):c.571C>G (p.His191Asp)	VHL	Likely pathogenic	3	10191578	10191578	C	G	criteria provided, single submitter	ClinGen:CA020495,UniProtKB:P40337#VAR_034999,OMIM:608537.0024
single nucleotide variant	NM_000551.4(VHL):c.371C>T (p.Thr124Ile)	VHL	Likely pathogenic	3	10188228	10188228	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020308
Deletion	NM_000551.3(VHL):c.-75_-55del	VHL	Likely pathogenic	3	10183457	10183477	AGCGCGCACGCAGCTCCGCCCC	A	criteria provided, single submitter	ClinGen:CA020542
single nucleotide variant	NM_000551.4(VHL):c.232A>T (p.Asn78Tyr)	VHL	Likely pathogenic	3	10183763	10183763	A	T	criteria provided, single submitter	ClinGen:CA357056
single nucleotide variant	NM_000551.4(VHL):c.233A>T (p.Asn78Ile)	VHL	Likely pathogenic	3	10183764	10183764	A	T	criteria provided, single submitter	ClinGen:CA357063
single nucleotide variant	NM_000551.4(VHL):c.269A>T (p.Asn90Ile)	VHL	Likely pathogenic	3	10183800	10183800	A	T	criteria provided, single submitter	ClinGen:CA357043
single nucleotide variant	NM_000551.4(VHL):c.277G>C (p.Gly93Arg)	VHL	Likely pathogenic	3	10183808	10183808	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA357130
Deletion	NM_000551.4(VHL):c.335_340+5del	VHL	Likely pathogenic	3	10183866	10183876	TACCGAGGTACG	T	criteria provided, single submitter	ClinGen:CA357040