"Ambry Genetics"[submitter] AND "LOC107303340"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 237

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1044026	NM_000551.4(VHL):c.340+832T>C	LOC107303340, VHL	Single nucleotide variant (3 prime UTR variant +1 more)	Chuvash polycythemia +2 more	GUncertain significance
Select item 411994	NM_000551.4(VHL):c.341-25_370dup	LOC107303340, VHL	Duplication (intron variant +1 more)	Von Hippel-Lindau syndrome +2 more	GConflicting classifications of pathogenicity
Select item 386138	NM_000551.4(VHL):c.341-5G>A	LOC107303340, VHL	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 560743	NM_000551.4(VHL):c.341-4A>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 428812	NM_000551.4(VHL):c.341-3T>G	LOC107303340, VHL	Single nucleotide variant (intron variant)	Von Hippel-Lindau syndrome +1 more	GConflicting classifications of pathogenicity
Select item 823743	NM_000551.4(VHL):c.341-1G>A	LOC107303340, VHL	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 2451969	NM_000551.4(VHL):c.343C>T (p.His115Tyr)	LOC107303340, VHL (H115Y)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 664415	NM_000551.4(VHL):c.344A>G (p.His115Arg)	LOC107303340, VHL (H115R)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +2 more	GPathogenic
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 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 246383	NM_000551.4(VHL):c.347T>G (p.Leu116Arg)	LOC107303340, VHL (L116R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 167827	NM_000551.4(VHL):c.351G>T (p.Trp117Cys)	LOC107303340, VHL	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 428807	NM_000551.4(VHL):c.353T>C (p.Leu118Pro)	LOC107303340, VHL (L118P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 428802	NM_000551.4(VHL):c.353T>G (p.Leu118Arg)	LOC107303340, VHL (L118R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1092041	NM_000551.4(VHL):c.354C>T (p.Leu118=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Chuvash polycythemia +2 more	GConflicting classifications of pathogenicity
Select item 496059	NM_000551.4(VHL):c.355T>C (p.Phe119Leu)	LOC107303340, VHL (F119L)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +2 more	GPathogenic
Select item 1732864	NM_000551.4(VHL):c.357C>A (p.Phe119Leu)	LOC107303340, VHL (F119L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 625240	NM_000551.4(VHL):c.357C>G (p.Phe119Leu)	LOC107303340, VHL (F119L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 428798	NM_000551.4(VHL):c.358del (p.Arg120fs)	LOC107303340, VHL (R120fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 824019	NM_000551.4(VHL):c.363dup (p.Ala122fs)	LOC107303340, VHL (A122fs)	Duplication (frameshift variant +1 more)	Chuvash polycythemia +2 more	GPathogenic
Select item 480791	NM_000551.4(VHL):c.364G>A (p.Ala122Thr)	LOC107303340, VHL (A122T)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +2 more	GUncertain significance
Select item 1733659	NM_000551.4(VHL):c.365C>A (p.Ala122Glu)	LOC107303340, VHL (A122E)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +2 more	GUncertain significance
Select item 1027087	NM_000551.4(VHL):c.365C>T (p.Ala122Val)	LOC107303340, VHL (A122V)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +2 more	GConflicting classifications of pathogenicity
Select item 739486	NM_000551.4(VHL):c.366A>C (p.Ala122=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Chuvash polycythemia +2 more	GLikely benign
Select item 508246	NM_000551.4(VHL):c.366A>G (p.Ala122=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 411970	NM_000551.4(VHL):c.373C>T (p.His125Tyr)	LOC107303340, VHL (H125Y)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +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)	VHL-related condition +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)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 456585	NM_000551.4(VHL):c.377A>G (p.Asp126Gly)	LOC107303340, VHL (D126G)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 824213	NM_000551.4(VHL):c.378T>G (p.Asp126Glu)	LOC107303340, VHL (D126E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1208816	NM_000551.4(VHL):c.383T>C (p.Leu128Pro)	LOC107303340, VHL (L128P)	Single nucleotide variant (intron variant +1 more)	Chuvash polycythemia +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)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 456587	NM_000551.4(VHL):c.385C>T (p.Leu129=)	LOC107303340, VHL	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1735788	NM_000551.4(VHL):c.387G>A (p.Leu129=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 480868	NM_000551.4(VHL):c.388del (p.Val130fs)	LOC107303340, VHL (V130fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
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 1735887	NM_000551.4(VHL):c.388G>A (p.Val130Ile)	LOC107303340, VHL (V130I)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +2 more	GConflicting classifications of pathogenicity
Select item 2229	NM_000551.4(VHL):c.388G>C (p.Val130Leu)	LOC107303340, VHL (V130L)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +2 more	GPathogenic
Select item 1736103	NM_000551.4(VHL):c.390del (p.Asn131fs)	LOC107303340, VHL (N131fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1736176	NM_000551.4(VHL):c.391A>G (p.Asn131Asp)	LOC107303340, VHL (N131D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1736331	NM_000551.4(VHL):c.393C>T (p.Asn131=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 496063	NM_000551.4(VHL):c.395A>C (p.Gln132Pro)	LOC107303340, VHL (Q132P)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +1 more	GPathogenic/Likely pathogenic
Select item 428808	NM_000551.4(VHL):c.397A>C (p.Thr133Pro)	LOC107303340, VHL (T133P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 411982	NM_000551.4(VHL):c.398C>T (p.Thr133Ile)	LOC107303340, VHL (T133I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 1737106	NM_000551.4(VHL):c.402_428del (p.Glu134_Val142del)	LOC107303340, VHL	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1737544	NM_000551.4(VHL):c.406T>G (p.Phe136Val)	LOC107303340, VHL (F136V)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1737542	NM_000551.4(VHL):c.406T>C (p.Phe136Leu)	LOC107303340, VHL (F136L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 496065	NM_000551.4(VHL):c.407T>G (p.Phe136Cys)	LOC107303340, VHL (F136C)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +1 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)	Chuvash polycythemia +5 more	GUncertain significance
Select item 1737815	NM_000551.4(VHL):c.409G>A (p.Val137Met)	LOC107303340, VHL (V137M)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +2 more	GUncertain significance
Select item 526700	NM_000551.4(VHL):c.411G>C (p.Val137=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Von Hippel-Lindau syndrome +2 more	GLikely benign
Select item 223206	NM_000551.4(VHL):c.414A>G (p.Pro138=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Von Hippel-Lindau 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)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1636759	NM_000551.4(VHL):c.417T>G (p.Ser139=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Chuvash polycythemia +2 more	GLikely benign
Select item 1593324	NM_000551.4(VHL):c.417T>A (p.Ser139=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 1393300	NM_000551.4(VHL):c.418C>G (p.Leu140Val)	LOC107303340, VHL (L140V)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +2 more	GUncertain significance
Select item 428797	NM_000551.4(VHL):c.418_419insA (p.Leu140fs)	LOC107303340, VHL (L140fs)	Insertion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 411979	NM_000551.4(VHL):c.422dup (p.Asn141fs)	LOC107303340, VHL (N141fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 381572	NM_000551.4(VHL):c.420C>A (p.Leu140=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Pheochromocytoma +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)	Chuvash polycythemia +5 more	GUncertain significance
Select item 1739241	NM_000551.4(VHL):c.426del (p.Asp143fs)	LOC107303340, VHL (D143fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 672121	NM_000551.4(VHL):c.426T>C (p.Val142=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Pheochromocytoma +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)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 576437	NM_000551.4(VHL):c.430G>A (p.Gly144Arg)	LOC107303340, VHL (G144R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 1055805	NM_000551.4(VHL):c.431G>A (p.Gly144Glu)	LOC107303340, VHL (G144E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1739759	NM_000551.4(VHL):c.432A>T (p.Gly144=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 766867	NM_000551.4(VHL):c.432A>G (p.Gly144=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Von Hippel-Lindau syndrome +2 more	GLikely benign
Select item 1060596	NM_000551.4(VHL):c.433C>G (p.Gln145Glu)	LOC107303340, VHL (Q145E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1740000	NM_000551.4(VHL):c.435G>A (p.Gln145=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 216479	NM_000551.4(VHL):c.435G>C (p.Gln145His)	LOC107303340, VHL (Q145H)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +2 more	GUncertain significance
Select item 1740140	NM_000551.4(VHL):c.437C>G (p.Pro146Arg)	LOC107303340, VHL (P146R)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +2 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)	VHL-related condition +1 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 411964	NM_000551.4(VHL):c.440T>C (p.Ile147Thr)	LOC107303340, VHL (I147T)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +3 more	GUncertain significance
Select item 223213	NM_000551.4(VHL):c.445G>A (p.Ala149Thr)	LOC107303340, VHL (A149T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
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 1118459	NM_000551.4(VHL):c.447C>T (p.Ala149=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Chuvash polycythemia +2 more	GLikely benign
Select item 1740944	NM_000551.4(VHL):c.448A>G (p.Asn150Asp)	LOC107303340, VHL (N150D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1740939	NM_000551.4(VHL):c.448A>C (p.Asn150His)	LOC107303340, VHL (N150H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 371992	NM_000551.4(VHL):c.449A>G (p.Asn150Ser)	LOC107303340, VHL (N150S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 857570	NM_000551.4(VHL):c.451A>G (p.Ile151Val)	LOC107303340, VHL (I151V)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +2 more	GConflicting classifications of pathogenicity
Select item 231711	NM_000551.4(VHL):c.451A>C (p.Ile151Leu)	LOC107303340, VHL (I151L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 428803	NM_000551.4(VHL):c.452T>C (p.Ile151Thr)	LOC107303340, VHL (I151T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 1741538	NM_000551.4(VHL):c.456A>G (p.Thr152=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 36903	NM_000551.4(VHL):c.458T>A (p.Leu153Gln)	LOC107303340, VHL (L153Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 486714	NM_000551.4(VHL):c.460C>T (p.Pro154Ser)	LOC107303340, VHL (P154S)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +2 more	GPathogenic/Likely pathogenic
Select item 649525	NM_000551.4(VHL):c.461C>T (p.Pro154Leu)	LOC107303340, VHL (P154L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 560745	NM_000551.4(VHL):c.461C>G (p.Pro154Arg)	LOC107303340, VHL (P154R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 825062	NM_000551.4(VHL):c.463G>T (p.Val155Leu)	LOC107303340, VHL (V155L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1457709	NM_000551.4(VHL):c.463+1G>T	LOC107303340, VHL	Single nucleotide variant (intron variant +1 more)	Chuvash polycythemia +2 more	GPathogenic
Select item 526679	NM_000551.4(VHL):c.463+1G>A	LOC107303340, VHL	Single nucleotide variant (intron variant +1 more)	Chuvash polycythemia +3 more	GPathogenic
Select item 1495217	NM_000551.4(VHL):c.463+3A>C	LOC107303340, VHL	Single nucleotide variant (intron variant)	Von Hippel-Lindau syndrome +2 more	GConflicting classifications of pathogenicity
Select item 428796	NM_000551.4(VHL):c.463+3A>G	LOC107303340, VHL	Single nucleotide variant (intron variant)	Von Hippel-Lindau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1742039	NM_000551.4(VHL):c.463+4C>G	LOC107303340, VHL	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	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 947386	NM_000551.4(VHL):c.463+5T>G	LOC107303340, VHL	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 2586592	NM_000551.4(VHL):c.464-7_464-3del	LOC107303340, VHL	Deletion (intron variant)	Hereditary cancer-predisposing syndrome	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

<< First< Prev

Page of 3