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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 144845	GRCh38/hg38 3p25.3(chr3:9896061-10220962)x1	BRK1, CRELD1 +34 more	Copy number loss	See cases	GPathogenic
Select item 1288206	NM_000551.4(VHL):c.340+174dup	LOC107303340, VHL	Duplication (intron variant)	not provided	GBenign
Select item 1252914	NM_000551.4(VHL):c.340+173_340+174dup	LOC107303340, VHL	Duplication (intron variant)	not provided	GBenign
Select item 1236922	NM_000551.4(VHL):c.340+172_340+174dup	LOC107303340, VHL	Duplication (intron variant)	not provided	GBenign
Select item 827583	NM_000551.4(VHL):c.340+648T>C	LOC107303340, VHL (L138P)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 816685	NM_000551.4(VHL):c.340+770T>C	LOC107303340, VHL (S179P)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1281672	NM_000551.4(VHL):c.340+945dup	LOC107303340, VHL	Duplication (intron variant)	not provided	GBenign
Select item 1252948	NM_000551.4(VHL):c.340+944_340+945dup	LOC107303340, VHL	Duplication (intron variant)	not provided	GBenign
Select item 1180306	NM_000551.4(VHL):c.340+994A>G	LOC107303340, VHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292474	NM_000551.4(VHL):c.341-324dup	LOC107303340, VHL	Duplication (intron variant)	not provided	GBenign
Select item 1187740	NM_000551.4(VHL):c.341-328_341-324dup	LOC107303340, VHL	Duplication (intron variant)	not provided	GLikely benign
Select item 1263082	NM_000551.4(VHL):c.341-314G>A	LOC107303340, VHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197732	NM_000551.4(VHL):c.341-246G>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677242	NM_000551.4(VHL):c.341-216C>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261973	NM_000551.4(VHL):c.341-186del	LOC107303340, VHL	Deletion (intron variant)	not provided	GBenign
Select item 676889	NM_000551.4(VHL):c.341-182C>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220407	NM_000551.4(VHL):c.341-38C>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 496876	NM_000551.4(VHL):c.341-37G>A	LOC107303340, VHL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 456584	NM_000551.4(VHL):c.341-10G>C	LOC107303340, VHL	Single nucleotide variant (intron variant)	Von Hippel-Lindau syndrome +3 more	GLikely benign
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 3340785	NM_000551.4(VHL):c.347T>C (p.Leu116Pro)	LOC107303340, VHL (L116P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 246383	NM_000551.4(VHL):c.347T>G (p.Leu116Arg)	LOC107303340, VHL (L116R)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +3 more	GUncertain significance
Select item 223198	NM_000551.4(VHL):c.352_353insA (p.Leu118fs)	LOC107303340, VHL (L118fs)	Insertion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 429679	NM_000551.4(VHL):c.356_357insGG (p.Phe119fs)	LOC107303340, VHL (F119fs)	Insertion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 223199	NM_000551.4(VHL):c.358A>G (p.Arg120Gly)	LOC107303340, VHL (R120G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 418539	NM_000551.4(VHL):c.364G>T (p.Ala122Ser)	LOC107303340, VHL (A122S)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +2 more	GUncertain significance
Select item 508246	NM_000551.4(VHL):c.366A>G (p.Ala122=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Chuvash polycythemia +3 more	GLikely benign
Select item 582981	NM_000551.4(VHL):c.370A>G (p.Thr124Ala)	LOC107303340, VHL (T124A)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +2 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 215768	NM_000551.4(VHL):c.375C>T (p.His125=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Von Hippel-Lindau syndrome +3 more	GLikely benign
Select item 526681	NM_000551.4(VHL):c.376G>C (p.Asp126His)	LOC107303340, VHL (D126H)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +2 more	GUncertain significance
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 456585	NM_000551.4(VHL):c.377A>G (p.Asp126Gly)	LOC107303340, VHL (D126G)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +3 more	GConflicting classifications of pathogenicity
Select item 3363876	NM_000551.4(VHL):c.380G>A (p.Gly127Glu)	LOC107303340, VHL (G127E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 219470	NM_000551.4(VHL):c.387G>T (p.Leu129=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Von Hippel-Lindau syndrome +3 more	GLikely benign
Select item 496062	NM_000551.4(VHL):c.392A>G (p.Asn131Ser)	LOC107303340, VHL (N131S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 420074	NM_000551.4(VHL):c.393C>A (p.Asn131Lys)	LOC107303340, VHL (N131K)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +2 more	GConflicting classifications of pathogenicity
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 816689	NM_000551.4(VHL):c.413C>T (p.Pro138Leu)	LOC107303340, VHL (P138L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 223206	NM_000551.4(VHL):c.414A>G (p.Pro138=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
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 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 238108	NM_000551.4(VHL):c.427G>C (p.Asp143His)	LOC107303340, VHL (D143H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 416990	NM_000551.4(VHL):c.429C>T (p.Asp143=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Von Hippel-Lindau syndrome +4 more	GConflicting classifications of pathogenicity
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 411964	NM_000551.4(VHL):c.440T>C (p.Ile147Thr)	LOC107303340, VHL (I147T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 127829	NM_000551.4(VHL):c.445G>T (p.Ala149Ser)	LOC107303340, VHL (A149S)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +3 more	GPathogenic
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 560745	NM_000551.4(VHL):c.461C>G (p.Pro154Arg)	LOC107303340, VHL (P154R)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance FDA Recognized database
Select item 625251	NM_000551.4(VHL):c.462del (p.Val155fs)	LOC107303340, VHL (V155fs)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome +1 more	GPathogenic/Likely pathogenic
Select item 411977	NM_000551.4(VHL):c.462A>G (p.Pro154=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Chuvash polycythemia +2 more	GConflicting classifications of pathogenicity
Select item 1023631	NM_000551.4(VHL):c.463G>C (p.Val155Leu)	LOC107303340, VHL (V155L)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +2 more	GConflicting classifications of pathogenicity
Select item 245895	NM_000551.4(VHL):c.463+4C>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing 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	GBenign FDA Recognized database
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 512738	NM_000551.4(VHL):c.463+12T>C	LOC107303340, VHL	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 223218	NM_000551.4(VHL):c.463+37_463+39del	LOC107303340, VHL	Microsatellite (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 1244574	NM_000551.4(VHL):c.463+43A>G	LOC107303340, VHL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1292423	NM_000551.4(VHL):c.463+108T>G	LOC107303340, VHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277054	NM_000551.4(VHL):c.463+174del	LOC107303340, VHL	Deletion (intron variant)	not provided	GBenign
Select item 1213450	NM_000551.4(VHL):c.463+256G>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235805	NM_000551.4(VHL):c.464-252C>G	LOC107303340, VHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677861	NM_000551.4(VHL):c.464-153C>G	LOC107303340, VHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201249	NM_000551.4(VHL):c.464-94T>A	LOC107303340, VHL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247794	NM_000551.4(VHL):c.464-30C>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 456589	NM_000551.4(VHL):c.464-10G>A	LOC107303340, VHL	Single nucleotide variant (intron variant)	Chuvash polycythemia +2 more	GBenign/Likely benign
Select item 1313685	NM_000551.4(VHL):c.464-3C>A	LOC107303340, VHL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 644549	NM_000551.4(VHL):c.464-3C>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	Chuvash polycythemia +3 more	GUncertain significance
Select item 1712100	NM_000551.4(VHL):c.464T>C (p.Val155Ala)	LOC107303340, VHL (V114A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 43600	NM_000551.4(VHL):c.467A>G (p.Tyr156Cys)	VHL, LOC107303340 (Y156C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 567944	NM_000551.4(VHL):c.472C>G (p.Leu158Val)	LOC107303340, VHL (L158V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 182980	NM_000551.4(VHL):c.473T>C (p.Leu158Pro)	LOC107303340, VHL (L158P +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +3 more	GPathogenic
Select item 182959	NM_000551.4(VHL):c.477del (p.Glu160fs)	LOC107303340, VHL (E119fs +1 more)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database
Select item 419677	NM_000551.4(VHL):c.482_486del (p.Arg161fs)	LOC107303340, VHL (R120fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2217	NM_000551.4(VHL):c.481C>T (p.Arg161Ter)	LOC107303340, VHL (R161* +1 more)	Single nucleotide variant (nonsense +1 more)	Von Hippel-Lindau syndrome +3 more	GPathogenic
Select item 182983	NM_000551.4(VHL):c.482G>A (p.Arg161Gln)	LOC107303340, VHL (R161Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 223228	NM_000551.4(VHL):c.490C>T (p.Gln164Ter)	LOC107303340, VHL (Q164* +1 more)	Single nucleotide variant (nonsense +1 more)	Chuvash polycythemia +3 more	GPathogenic
Select item 618485	NM_000551.4(VHL):c.492G>C (p.Gln164His)	LOC107303340, VHL (Q164H +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +3 more	GPathogenic/Likely pathogenic
Select item 456566	NM_000551.4(VHL):c.492G>T (p.Gln164His)	LOC107303340, VHL (Q164H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2224	NM_000551.4(VHL):c.496G>T (p.Val166Phe)	LOC107303340, VHL (V166F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +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)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database
Select item 2087988	NM_000551.4(VHL):c.503G>A (p.Ser168Asn)	LOC107303340, VHL (S127N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
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 526669	NM_000551.4(VHL):c.513G>T (p.Lys171Asn)	LOC107303340, VHL (K171N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 390882	NM_000551.4(VHL):c.522T>C (p.Asn174=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Chuvash polycythemia +3 more	GLikely benign
Select item 825586	NM_000551.4(VHL):c.524A>T (p.Tyr175Phe)	LOC107303340, VHL (Y134F +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 36905	NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)	LOC107303340, VHL (Y175C +1 more)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +3 more	GPathogenic/Likely pathogenic
Select item 545823	NM_000551.4(VHL):c.531_542delinsTC (p.Arg177fs)	LOC107303340, VHL (R136fs +1 more)	Indel (frameshift variant +1 more)	Von Hippel-Lindau syndrome +1 more	GPathogenic/Likely pathogenic
Select item 428795	NM_000551.4(VHL):c.533T>C (p.Leu178Pro)	LOC107303340, VHL (L178P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 419861	NM_000551.4(VHL):c.535G>A (p.Asp179Asn)	LOC107303340, VHL (D179N +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +3 more	GUncertain significance
Select item 161401	NM_000551.4(VHL):c.538A>G (p.Ile180Val)	LOC107303340, VHL (I180V +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +4 more	GUncertain significance
Select item 386669	NM_000551.4(VHL):c.540C>T (p.Ile180=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Von Hippel-Lindau syndrome +3 more	GLikely benign

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