ClinVar for PubMed (Select 10567493) - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2925347	NM_000551.4(VHL):c.493del (p.Val165fs)	LOC107303340, VHL (V165fs +1 more)	Deletion (frameshift variant +2 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 2921844	NM_000551.4(VHL):c.372_375del (p.His125fs)	LOC107303340, VHL (H125fs)	Microsatellite (frameshift variant +2 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 2673948	NM_000551.4(VHL):c.331A>C (p.Ser111Arg)	VHL (S111R)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 2119727	NM_000551.4(VHL):c.524dup (p.Tyr175Ter)	LOC107303340, VHL (Y134* +1 more)	Duplication (nonsense +1 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 1426858	NM_000551.4(VHL):c.193T>A (p.Ser65Thr)	VHL (S65T)	Single nucleotide variant (missense variant)	Chuvash polycythemia +1 more	GPathogenic
Select item 1070973	NM_000551.4(VHL):c.504_519del (p.Ser168fs)	LOC107303340, VHL (S127fs +1 more)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 1070179	NM_000551.4(VHL):c.239G>A (p.Ser80Asn)	VHL (S80N)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1070024	NC_000003.11:g.10106407-?_10191654+?del	FANCD2, VHL	Deletion	Chuvash polycythemia +1 more	GPathogenic
Select item 1068736	NC_000003.11:g.10094065-?_10191654+?del	FANCD2, VHL	Deletion	Chuvash polycythemia +1 more	GPathogenic
Select item 952355	NM_000551.4(VHL):c.505dup (p.Leu169fs)	LOC107303340, VHL (L169fs +1 more)	Duplication (frameshift variant +1 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 857570	NM_000551.4(VHL):c.451A>G (p.Ile151Val)	LOC107303340, VHL (I151V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 856153	NM_000551.4(VHL):c.448_449del (p.Asn150fs)	LOC107303340, VHL (N150fs)	Deletion (frameshift variant +1 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 833211	NC_000003.12:g.(?_10052377)_(10150035_?)del	BRK1, FANCD2 +2 more	Deletion	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 833032	NC_000003.12:g.(?_10072861)_(10150035_?)del	FANCD2, BRK1 +2 more	Deletion	Von Hippel-Lindau syndrome +1 more	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 665653	NC_000003.12:g.(?_10052377)_(10149975_?)del	BRK1, FANCD2 +7 more	Deletion	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 640445	NC_000003.12:g.(?_10141838)_(10149975_?)del	LOC107303340, VHL	Deletion	Chuvash polycythemia +1 more	GPathogenic
Select item 625259	NM_000551.4(VHL):c.533_534del (p.Leu178fs)	LOC107303340, VHL (L137fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 618484	NM_000551.4(VHL):c.481C>G (p.Arg161Gly)	LOC107303340, VHL (R161G +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +3 more	GPathogenic
Select item 580847	NM_000551.4(VHL):c.264G>C (p.Trp88Cys)	VHL (W88C)	Single nucleotide variant (missense variant)	Chuvash polycythemia +1 more	GPathogenic
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 496064	NM_000551.4(VHL):c.407T>C (p.Phe136Ser)	LOC107303340, VHL (F136S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
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 496053	NM_000551.4(VHL):c.262T>C (p.Trp88Arg)	VHL (W88R)	Single nucleotide variant (missense variant)	Chuvash polycythemia +1 more	GPathogenic
Select item 456577	NM_000551.4(VHL):c.262T>A (p.Trp88Arg)	VHL (W88R)	Single nucleotide variant (missense variant)	Chuvash polycythemia +3 more	GPathogenic
Select item 456565	NM_000551.4(VHL):c.377del (p.Asp126fs)	LOC107303340, VHL (D126fs)	Deletion (frameshift variant +1 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 456559	NC_000003.12:g.(?_10064723)_(10149971_?)del	BRK1, FANCD2 +7 more	Deletion	Chuvash polycythemia +1 more	GPathogenic
Select item 428803	NM_000551.4(VHL):c.452T>C (p.Ile151Thr)	LOC107303340, VHL (I151T)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +3 more	GPathogenic
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 223227	NM_000551.4(VHL):c.486C>G (p.Cys162Trp)	LOC107303340, VHL (C162W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 223226	NM_000551.4(VHL):c.486C>A (p.Cys162Ter)	LOC107303340, VHL (C162* +1 more)	Single nucleotide variant (nonsense +1 more)	Chuvash polycythemia +2 more	GPathogenic
Select item 223212	NM_000551.4(VHL):c.444del (p.Phe148fs)	LOC107303340, VHL (F148fs)	Deletion (frameshift variant +1 more)	Chuvash polycythemia +1 more	GPathogenic
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 223171	NM_000551.4(VHL):c.264G>T (p.Trp88Cys)	VHL (W88C)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GLikely pathogenic FDA Recognized database
Select item 223161	NM_000551.4(VHL):c.194C>A (p.Ser65Ter)	VHL (S65*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 195093	NM_000551.4(VHL):c.449del (p.Asn150fs)	LOC107303340, VHL (N150fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 182975	NM_000551.4(VHL):c.194C>T (p.Ser65Leu)	VHL (S65L)	Single nucleotide variant (missense variant)	Pancreatic cysts +5 more	GPathogenic
Select item 93329	NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)	LOC107303340, VHL (S168fs +1 more)	Insertion (frameshift variant +1 more)	Von Hippel-Lindau syndrome +3 more	GPathogenic/Likely pathogenic
Select item 43597	NM_000551.4(VHL):c.194C>G (p.Ser65Trp)	VHL (S65W)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database
Select item 2233	NM_000551.4(VHL):c.241C>T (p.Pro81Ser)	VHL (P81S)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GBenign FDA Recognized database
Select item 2223	NM_000551.4(VHL):c.292T>C (p.Tyr98His)	VHL (Y98H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	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 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 2215	NM_000551.4(VHL):c.548C>A (p.Ser183Ter)	LOC107303340, VHL (S183* +1 more)	Single nucleotide variant (nonsense +1 more)	Chuvash polycythemia +2 more	GPathogenic

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Items: 44