"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC107303340"[gen - ClinVar - NCBI

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Items: 19

	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 411970	NM_000551.4(VHL):c.373C>T (p.His125Tyr)	LOC107303340, VHL (H125Y)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +5 more	GConflicting classifications of pathogenicity
Select item 411982	NM_000551.4(VHL):c.398C>T (p.Thr133Ile)	LOC107303340, VHL (T133I)	Single nucleotide variant (missense variant +1 more)	Nonpapillary renal cell carcinoma +4 more	GUncertain significance
Select item 238107	NM_000551.4(VHL):c.408T>G (p.Phe136Leu)	LOC107303340, VHL (F136L)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 381572	NM_000551.4(VHL):c.420C>A (p.Leu140=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Von Hippel-Lindau syndrome +5 more	GLikely benign
Select item 423677	NM_000551.4(VHL):c.422A>G (p.Asn141Ser)	LOC107303340, VHL (N141S)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 672121	NM_000551.4(VHL):c.426T>C (p.Val142=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Von Hippel-Lindau syndrome +5 more	GLikely benign
Select item 576437	NM_000551.4(VHL):c.430G>A (p.Gly144Arg)	LOC107303340, VHL (G144R)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +4 more	GUncertain significance
Select item 371833	NM_000551.4(VHL):c.439A>G (p.Ile147Val)	LOC107303340, VHL (I147V)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +6 more	GUncertain significance
Select item 387184	NM_000551.4(VHL):c.463+9G>A	LOC107303340, VHL	Single nucleotide variant (intron variant)	Chuvash polycythemia +5 more	GLikely benign
Select item 223222	NM_000551.4(VHL):c.464-2A>G	LOC107303340, VHL	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 2218	NM_000551.4(VHL):c.499C>T (p.Arg167Trp)	LOC107303340, VHL (R167W +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 486713	NM_000551.4(VHL):c.508G>A (p.Val170Ile)	LOC107303340, VHL (V170I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 1518457	NM_000551.4(VHL):c.530G>C (p.Arg177Thr)	LOC107303340, VHL (R136T +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +3 more	GUncertain significance
Select item 223232	NM_000551.4(VHL):c.554A>G (p.Tyr185Cys)	LOC107303340, VHL (Y185C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 2234	NM_000551.4(VHL):c.574C>T (p.Pro192Ser)	LOC107303340, VHL (P192S +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +5 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 440404	NM_000551.4(VHL):c.634G>T (p.Gly212Ter)	LOC107303340, VHL (G212* +1 more)	Single nucleotide variant (nonsense +1 more)	Von Hippel-Lindau syndrome	GUncertain significance FDA Recognized database
Select item 1376154	NM_000551.4(VHL):c.637G>C (p.Asp213His)	LOC107303340, VHL (D213H +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +3 more	GUncertain significance