"Myriad Genetics, Inc."[submitter] AND "LOC107303340"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 849869	NM_000551.4(VHL):c.340+578C>T	LOC107303340, VHL (L115F)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +4 more	GConflicting classifications of pathogenicity
Select item 371898	NM_000551.4(VHL):c.341-6C>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 386138	NM_000551.4(VHL):c.341-5G>A	LOC107303340, VHL	Single nucleotide variant (intron variant)	Von Hippel-Lindau syndrome +3 more	GBenign/Likely benign
Select item 2034796	NM_000551.4(VHL):c.341-2A>T	LOC107303340, VHL	Single nucleotide variant (intron variant +1 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 2674429	NM_000551.4(VHL):c.341-1G>T	LOC107303340, VHL	Single nucleotide variant (intron variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 428807	NM_000551.4(VHL):c.353T>C (p.Leu118Pro)	LOC107303340, VHL (L118P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1106045	NM_000551.4(VHL):c.357C>T (p.Phe119=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Von Hippel-Lindau syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3148727	NM_000551.4(VHL):c.369del (p.Thr124fs)	LOC107303340, VHL (T124fs)	Deletion (frameshift variant +2 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 625241	NM_000551.4(VHL):c.381del (p.Leu128fs)	LOC107303340, VHL (L128fs)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 1208816	NM_000551.4(VHL):c.383T>C (p.Leu128Pro)	LOC107303340, VHL (L128P)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 486710	NM_000551.4(VHL):c.385C>G (p.Leu129Val)	LOC107303340, VHL (L129V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 223204	NM_000551.4(VHL):c.402del (p.Glu134fs)	LOC107303340, VHL (E134fs)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 223212	NM_000551.4(VHL):c.444del (p.Phe148fs)	LOC107303340, VHL (F148fs)	Deletion (frameshift variant +1 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 1457709	NM_000551.4(VHL):c.463+1G>T	LOC107303340, VHL	Single nucleotide variant (intron variant +1 more)	Von Hippel-Lindau syndrome +2 more	GPathogenic
Select item 428796	NM_000551.4(VHL):c.463+3A>G	LOC107303340, VHL	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GConflicting classifications of pathogenicity
Select item 2231	NM_000551.4(VHL):c.488T>C (p.Leu163Pro)	LOC107303340, VHL (L163P +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +2 more	GLikely pathogenic
Select item 2215	NM_000551.4(VHL):c.548C>A (p.Ser183Ter)	LOC107303340, VHL (S183* +1 more)	Single nucleotide variant (nonsense +1 more)	Chuvash polycythemia +2 more	GPathogenic
Select item 1385557	NM_000551.4(VHL):c.553T>A (p.Tyr185Asn)	LOC107303340, VHL (Y144N +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2674431	NM_000551.4(VHL):c.555_557del (p.Tyr185_Glu186delinsTer)	LOC107303340, VHL	Deletion (nonsense +2 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 2225	NM_000551.4(VHL):c.562C>G (p.Leu188Val)	LOC107303340, VHL (L188V +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance FDA Recognized database
Select item 411974	NM_000551.4(VHL):c.613C>T (p.Arg205Cys)	LOC107303340, VHL (R205C +1 more)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +3 more	GConflicting classifications of pathogenicity
Select item 421823	NM_000551.4(VHL):c.614G>A (p.Arg205His)	LOC107303340, VHL (R205H +1 more)	Single nucleotide variant (missense variant +1 more)	Nonpapillary renal cell carcinoma +5 more	GConflicting classifications of pathogenicity
Select item 182990	NM_000551.4(VHL):c.631A>C (p.Met211Leu)	LOC107303340, VHL (M211L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity

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Items: 23