ClinVar for PubMed (Select 11409863) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1732864	NM_000551.4(VHL):c.357C>A (p.Phe119Leu)	LOC107303340, VHL (F119L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 625240	NM_000551.4(VHL):c.357C>G (p.Phe119Leu)	LOC107303340, VHL (F119L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 583075	NM_000551.4(VHL):c.278_279delinsTT (p.Gly93Val)	VHL (G93V)	Indel (missense variant)	Chuvash polycythemia +2 more	GLikely pathogenic
Select item 496065	NM_000551.4(VHL):c.407T>G (p.Phe136Cys)	LOC107303340, VHL (F136C)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +1 more	GConflicting classifications of pathogenicity
Select item 496059	NM_000551.4(VHL):c.355T>C (p.Phe119Leu)	LOC107303340, VHL (F119L)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +2 more	GPathogenic
Select item 376222	NM_000551.4(VHL):c.254T>C (p.Leu85Pro)	VHL (L85P)	Single nucleotide variant (missense variant)	Chuvash polycythemia +1 more	GUncertain significance
Select item 371897	NM_000551.4(VHL):c.*7C>G	LOC107303340, VHL	Single nucleotide variant (3 prime UTR variant)	Chuvash polycythemia +1 more	GUncertain significance
Select item 229860	NM_000551.4(VHL):c.250G>C (p.Val84Leu)	VHL (V84L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 223200	NM_000551.4(VHL):c.362A>G (p.Asp121Gly)	LOC107303340, VHL (D121G)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 223174	NM_000551.4(VHL):c.277G>C (p.Gly93Arg)	VHL (G93R)	Single nucleotide variant (missense variant)	Chuvash polycythemia +2 more	GLikely pathogenic
Select item 223166	NM_000551.4(VHL):c.224TCT[1] (p.Phe76del)	VHL (F76del)	Microsatellite (inframe_deletion)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 223161	NM_000551.4(VHL):c.194C>A (p.Ser65Ter)	VHL (S65*)	Single nucleotide variant (nonsense)	Von Hippel-Lindau syndrome +2 more	GPathogenic
Select item 182979	NM_000551.4(VHL):c.266T>C (p.Leu89Pro)	VHL (L89P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 182974	NM_000551.4(VHL):c.525C>G (p.Tyr175Ter)	LOC107303340, VHL (Y175* +1 more)	Single nucleotide variant (nonsense +1 more)	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 127830	NM_000551.4(VHL):c.463+8C>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	Chuvash polycythemia +4 more	GConflicting classifications of pathogenicity
Select item 2236	NM_000551.4(VHL):c.250G>T (p.Val84Leu)	VHL (V84L)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +3 more	GPathogenic