"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC107303 - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1463138	NM_000551.4(VHL):c.340+587C>G	LOC107303340, VHL (P118A)	Single nucleotide variant (missense variant +1 more)	VHL-related disorder +2 more	GUncertain significance
Select item 1088219	NM_000551.4(VHL):c.340+621T>C	LOC107303340, VHL (V129A)	Single nucleotide variant (missense variant +1 more)	VHL-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 840469	NM_000551.4(VHL):c.340+634C>T	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	VHL-related disorder +2 more	GLikely benign
Select item 840470	NM_000551.4(VHL):c.340+646A>T	LOC107303340, VHL (R137S)	Single nucleotide variant (missense variant +1 more)	VHL-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1169843	NM_000551.4(VHL):c.340+679T>G	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	VHL-related disorder +2 more	GBenign/Likely benign
Select item 1141392	NM_000551.4(VHL):c.340+686_340+687del	LOC107303340, VHL (G151fs)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome +2 more	GLikely benign
Select item 1047639	NM_000551.4(VHL):c.340+695_340+702dup	LOC107303340, VHL (D156fs)	Duplication (frameshift variant +1 more)	VHL-related disorder +2 more	GUncertain significance
Select item 840899	NM_000551.4(VHL):c.340+696G>T	LOC107303340, VHL (R154I)	Single nucleotide variant (missense variant +1 more)	VHL-related disorder +2 more	GUncertain significance
Select item 864466	NM_000551.4(VHL):c.340+727T>G	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	VHL-related disorder +2 more	GLikely benign
Select item 2630211	NM_000551.4(VHL):c.340+767G>A	LOC107303340, VHL (V178I)	Single nucleotide variant (missense variant +2 more)	VHL-related disorder	GUncertain significance
Select item 842710	NM_000551.4(VHL):c.340+790G>A	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	VHL-related disorder +2 more	GLikely benign
Select item 851353	NM_000551.4(VHL):c.340+800G>A	LOC107303340, VHL (E189K)	Single nucleotide variant (missense variant +1 more)	VHL-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3048471	NM_000551.4(VHL):c.341-50G>A	LOC107303340, VHL	Single nucleotide variant (intron variant)	VHL-related disorder	GLikely benign
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 560743	NM_000551.4(VHL):c.341-4A>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	Chuvash polycythemia +3 more	GConflicting classifications of pathogenicity
Select item 560744	NM_000551.4(VHL):c.344A>C (p.His115Pro)	LOC107303340, VHL (H115P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
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 36902	NM_000551.4(VHL):c.371C>T (p.Thr124Ile)	LOC107303340, VHL (T124I)	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GLikely pathogenic
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 43601	NM_000551.4(VHL):c.408del (p.Phe136fs)	LOC107303340, VHL (F136fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 496064	NM_000551.4(VHL):c.407T>C (p.Phe136Ser)	LOC107303340, VHL (F136S)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +2 more	GPathogenic/Likely pathogenic
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 2451974	NM_000551.4(VHL):c.439A>T (p.Ile147Phe)	LOC107303340, VHL (I147F)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 560745	NM_000551.4(VHL):c.461C>G (p.Pro154Arg)	LOC107303340, VHL (P154R)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +3 more	GUncertain significance
Select item 245895	NM_000551.4(VHL):c.463+4C>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	Von Hippel-Lindau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 127830	NM_000551.4(VHL):c.463+8C>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	Von Hippel-Lindau syndrome +4 more	GConflicting classifications of pathogenicity
Select item 182983	NM_000551.4(VHL):c.482G>A (p.Arg161Gln)	LOC107303340, VHL (R161Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 223227	NM_000551.4(VHL):c.486C>G (p.Cys162Trp)	LOC107303340, VHL (C162W +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 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 2216	NM_000551.4(VHL):c.500G>A (p.Arg167Gln)	LOC107303340, VHL (R167Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
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 231869	NM_000551.4(VHL):c.545G>A (p.Arg182Lys)	LOC107303340, VHL (R182K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 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)	Von Hippel-Lindau syndrome +6 more	GConflicting classifications of pathogenicity
Select item 161403	NM_000551.4(VHL):c.556G>A (p.Glu186Lys)	LOC107303340, VHL (E186K +1 more)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +3 more	GUncertain significance
Select item 526677	NM_000551.4(VHL):c.575C>T (p.Pro192Leu)	LOC107303340, VHL (P192L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 421558	NM_000551.4(VHL):c.599G>A (p.Arg200Gln)	LOC107303340, VHL (R200Q +1 more)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +4 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)	Hereditary cancer-predisposing syndrome +5 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 342404	NM_000551.4(VHL):c.639T>C (p.Asp213=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 40