"Counsyl"[submitter] AND "LOC107303340"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 371898	NM_000551.4(VHL):c.341-6C>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 220751	NM_000551.4(VHL):c.345C>T (p.His115=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Von Hippel-Lindau syndrome +2 more	GLikely benign
Select item 215768	NM_000551.4(VHL):c.375C>T (p.His125=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 141044	NM_000551.4(VHL):c.376G>A (p.Asp126Asn)	LOC107303340, VHL (D126N)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance FDA Recognized database
Select item 135956	NM_000551.4(VHL):c.416C>G (p.Ser139Cys)	LOC107303340, VHL (S139C)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +3 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 371992	NM_000551.4(VHL):c.449A>G (p.Asn150Ser)	LOC107303340, VHL (N150S)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +4 more	GUncertain significance
Select item 127830	NM_000551.4(VHL):c.463+8C>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	Von Hippel-Lindau syndrome	GBenign FDA Recognized database
Select item 238111	NM_000551.4(VHL):c.541G>A (p.Val181Ile)	LOC107303340, VHL (V181I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 220655	NM_000551.4(VHL):c.544A>G (p.Arg182Gly)	LOC107303340, VHL (R182G +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 215769	NM_000551.4(VHL):c.552C>T (p.Leu184=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Von Hippel-Lindau syndrome +4 more	GBenign/Likely benign
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 2232	NM_000551.4(VHL):c.598C>T (p.Arg200Trp)	LOC107303340, VHL (R200W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 220627	NM_000551.4(VHL):c.628C>T (p.Arg210Trp)	LOC107303340, VHL (R210W +1 more)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +4 more	GConflicting classifications of pathogenicity
Select item 127828	NM_000551.4(VHL):c.629G>A (p.Arg210Gln)	LOC107303340, VHL (R210Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 371897	NM_000551.4(VHL):c.*7C>G	LOC107303340, VHL	Single nucleotide variant (3 prime UTR variant)	Von Hippel-Lindau syndrome +1 more	GUncertain significance