C0019562[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 548790	NM_000551.4(VHL):c.1A>G (p.Met1Val)	VHL (M1V)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 411967	NM_000551.4(VHL):c.1A>T (p.Met1Leu)	VHL (M1L)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +3 more	GConflicting classifications of pathogenicity
Select item 238106	NM_000551.4(VHL):c.3G>T (p.Met1Ile)	VHL (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 135406	NM_000551.4(VHL):c.3G>A (p.Met1Ile)	VHL (M1I)	Single nucleotide variant (missense variant +1 more)	Nonpapillary renal cell carcinoma +6 more	GConflicting classifications of pathogenicity
Select item 216476	NM_000551.4(VHL):c.14C>T (p.Ala5Val)	VHL (A5V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 135953	NM_000551.4(VHL):c.25G>A (p.Asp9Asn)	VHL (D9N)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 548745	NM_000551.4(VHL):c.28G>T (p.Glu10Ter)	VHL (E10*)	Single nucleotide variant (nonsense)	Von Hippel-Lindau syndrome +2 more	GUncertain significance
Select item 220099	NM_000551.4(VHL):c.47A>C (p.Glu16Ala)	VHL (E16A)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +2 more	GUncertain significance
Select item 548874	NM_000551.4(VHL):c.69C>A (p.Tyr23Ter)	VHL (Y23*)	Single nucleotide variant (nonsense)	Von Hippel-Lindau syndrome +2 more	GUncertain significance
Select item 238113	NM_000551.4(VHL):c.71G>A (p.Gly24Asp)	VHL (G24D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 371945	NM_000551.4(VHL):c.83_100dup (p.Asp28_Ser33dup)	VHL	Duplication (inframe_insertion)	Chuvash polycythemia +1 more	GUncertain significance
Select item 456598	NM_000551.4(VHL):c.91G>T (p.Glu31Ter)	VHL (E31*)	Single nucleotide variant (nonsense)	Von Hippel-Lindau syndrome +2 more	GUncertain significance
Select item 132707	NM_000551.4(VHL):c.104C>A (p.Ala35Asp)	VHL (A35D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 220918	NM_000551.4(VHL):c.114C>T (p.Ser38=)	VHL	Single nucleotide variant (synonymous variant)	Von Hippel-Lindau syndrome +4 more	GBenign/Likely benign
Select item 135405	NM_000551.4(VHL):c.119C>T (p.Pro40Leu)	VHL (P40L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 215765	NM_000551.4(VHL):c.135G>A (p.Pro45=)	VHL	Single nucleotide variant (synonymous variant)	Von Hippel-Lindau syndrome +4 more	GBenign/Likely benign
Select item 182982	NM_000551.4(VHL):c.154G>T (p.Glu52Ter)	VHL (E52*)	Single nucleotide variant (nonsense)	Pheochromocytoma +7 more	GUncertain significance
Select item 161402	NM_000551.4(VHL):c.154G>A (p.Glu52Lys)	VHL (E52K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 371800	NM_000551.4(VHL):c.167C>G (p.Ala56Gly)	VHL (A56G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 238102	NM_000551.4(VHL):c.172C>T (p.Arg58Trp)	VHL (R58W)	Single nucleotide variant (missense variant)	Pheochromocytoma +5 more	GConflicting classifications of pathogenicity
Select item 411990	NM_000551.4(VHL):c.181C>T (p.Pro61Ser)	VHL (P61S)	Single nucleotide variant (missense variant)	Chuvash polycythemia +2 more	GUncertain significance
Select item 93326	NM_000551.4(VHL):c.233A>G (p.Asn78Ser)	VHL (N78S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 161400	NM_000551.4(VHL):c.235C>T (p.Arg79Cys)	VHL (R79C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 137905	NM_000551.4(VHL):c.246C>T (p.Arg82=)	VHL	Single nucleotide variant (synonymous variant)	Von Hippel-Lindau syndrome +4 more	GBenign/Likely benign
Select item 238104	NM_000551.4(VHL):c.258C>G (p.Pro86=)	VHL	Single nucleotide variant (synonymous variant)	Von Hippel-Lindau syndrome +3 more	GLikely benign
Select item 184664	NM_000551.4(VHL):c.275A>T (p.Asp92Val)	VHL (D92V)	Single nucleotide variant (missense variant)	Chuvash polycythemia +6 more	GUncertain significance
Select item 371898	NM_000551.4(VHL):c.341-6C>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	not provided +5 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)	Hereditary cancer-predisposing 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)	Hereditary cancer-predisposing syndrome +4 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)	not specified +4 more	GConflicting classifications of pathogenicity
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)	not provided +4 more	GUncertain significance
Select item 127830	NM_000551.4(VHL):c.463+8C>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 238111	NM_000551.4(VHL):c.541G>A (p.Val181Ile)	LOC107303340, VHL (V181I +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +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)	Hereditary cancer-predisposing 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)	Chuvash polycythemia +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)	Von Hippel-Lindau 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)	Chuvash polycythemia +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)	Maffucci syndrome +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 +5 more	GConflicting classifications of pathogenicity
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

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Items: 42