"GeneDx"[submitter] AND "VHL"[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 265138	NM_001018115.3(FANCD2):c.2605+1G>A	FANCD2, LOC107303338 +1 more	Single nucleotide variant (splice donor variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 1178859	NC_000003.12:g.10141318G>C	VHL	Single nucleotide variant	not provided	GBenign
Select item 1676867	NC_000003.12:g.10141556_10141557insAAA	VHL	Insertion	not provided	GLikely benign
Select item 1292417	NC_000003.12:g.10141570_10141571dup	VHL	Duplication	not provided	GBenign
Select item 1267817	NC_000003.12:g.10141569_10141571dup	VHL	Duplication	not provided	GBenign
Select item 1274684	NC_000003.12:g.10141590C>T	VHL	Single nucleotide variant	not provided	GBenign
Select item 342397	NC_000003.12:g.10141653G>A	VHL	Single nucleotide variant	Von Hippel-Lindau syndrome +2 more	GBenign
Select item 560737	NC_000003.12:g.10141751T>G	VHL	Single nucleotide variant	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 256649	NM_000551.3(VHL):c.-77C>T	VHL	Single nucleotide variant	Von Hippel-Lindau syndrome +2 more	GBenign/Likely benign
Select item 517152	NM_000551.4(VHL):c.-61_-51dup	VHL	Duplication (5 prime UTR variant)	Chuvash polycythemia +4 more	GConflicting classifications of pathogenicity
Select item 342400	NM_000551.4(VHL):c.-64C>T	VHL	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 182985	NM_000551.4(VHL):c.-54_-35dup	VHL	Duplication (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 511068	NM_000551.4(VHL):c.-48C>G	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 511159	NM_000551.4(VHL):c.-47C>T	VHL	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 382948	NM_000551.4(VHL):c.-47C>G	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1290627	NM_000551.4(VHL):c.-45C>A	VHL	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 507432	NM_000551.4(VHL):c.-44G>T	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 384826	NM_000551.4(VHL):c.-40C>T	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 380659	NM_000551.4(VHL):c.-38C>T	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 513189	NM_000551.4(VHL):c.-36C>T	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 511831	NM_000551.4(VHL):c.-36C>G	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 137904	NM_000551.4(VHL):c.-35G>A	VHL	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 389597	NM_000551.4(VHL):c.-29C>A	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 378851	NM_000551.4(VHL):c.-26C>G	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 508543	NM_000551.4(VHL):c.-25C>A	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 378852	NM_000551.4(VHL):c.-16C>T	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2446103	NM_000551.4(VHL):c.-11_10dup (p.Arg3_Arg4insIleAlaGluGlyMetProArg)	VHL	Duplication (inframe_insertion +2 more)	not provided +1 more	GUncertain significance
Select item 1311090	NM_000551.4(VHL):c.-15_4delinsCGGCCCGGGTGGTCTGGTCTCCG (p.Met1fs)	VHL (M1fs)	Indel (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 381125	NM_000551.4(VHL):c.-15T>C	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 386209	NM_000551.4(VHL):c.-13G>T	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 279916	NM_000551.4(VHL):c.-12_2dup (p.Met1fs)	VHL (M1fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 182987	NM_000551.4(VHL):c.-9_5dup (p.Ala5fs)	VHL (A5fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 510481	NM_000551.4(VHL):c.-10C>T	VHL	Single nucleotide variant (5 prime UTR variant)	Pheochromocytoma +4 more	GLikely benign
Select item 182989	NM_000551.4(VHL):c.-5A>C	VHL	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1710797	NM_000551.4(VHL):c.-1A>G	VHL	Single nucleotide variant (5 prime UTR variant +1 more)	Von Hippel-Lindau syndrome +2 more	GConflicting classifications of pathogenicity
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)	Von Hippel-Lindau syndrome +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)	Von Hippel-Lindau syndrome +6 more	GConflicting classifications of pathogenicity
Select item 3365139	NM_000551.4(VHL):c.4_5delinsTT (p.Pro2Phe)	VHL (P2F)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 574321	NM_000551.4(VHL):c.4C>T (p.Pro2Ser)	VHL (P2S)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +3 more	GUncertain significance
Select item 182981	NM_000551.4(VHL):c.5C>T (p.Pro2Leu)	VHL (P2L)	Single nucleotide variant (missense variant)	Chuvash polycythemia +5 more	GConflicting classifications of pathogenicity
Select item 759757	NM_000551.4(VHL):c.6C>T (p.Pro2=)	VHL	Single nucleotide variant (synonymous variant)	Chuvash polycythemia +3 more	GConflicting classifications of pathogenicity
Select item 238114	NM_000551.4(VHL):c.7C>T (p.Arg3Trp)	VHL (R3W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1313664	NM_000551.4(VHL):c.13_31dup (p.Ala11fs)	VHL (A11fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 575760	NM_000551.4(VHL):c.8G>C (p.Arg3Pro)	VHL (R3P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 456572	NM_000551.4(VHL):c.12G>A (p.Arg4=)	VHL	Single nucleotide variant (synonymous variant)	Chuvash polycythemia +3 more	GConflicting classifications of pathogenicity
Select item 423088	NM_000551.4(VHL):c.16_34dup (p.Glu12fs)	VHL (E12fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 216476	NM_000551.4(VHL):c.14C>T (p.Ala5Val)	VHL (A5V)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +3 more	GUncertain significance
Select item 514042	NM_000551.4(VHL):c.21C>T (p.Asn7=)	VHL	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 411973	NM_000551.4(VHL):c.21C>A (p.Asn7Lys)	VHL (N7K)	Single nucleotide variant (missense variant)	Chuvash polycythemia +3 more	GConflicting classifications of pathogenicity
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 411975	NM_000551.4(VHL):c.27C>A (p.Asp9Glu)	VHL (D9E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 374982	NM_000551.4(VHL):c.28G>A (p.Glu10Lys)	VHL (E10K)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +5 more	GConflicting classifications of pathogenicity
Select item 937122	NM_000551.4(VHL):c.34_35delinsTT (p.Glu12Leu)	VHL (E12L)	Indel (missense variant)	Chuvash polycythemia +3 more	GUncertain significance
Select item 420914	NM_000551.4(VHL):c.34G>C (p.Glu12Gln)	VHL (E12Q)	Single nucleotide variant (missense variant)	Chuvash polycythemia +3 more	GUncertain significance
Select item 419711	NM_000551.4(VHL):c.36G>C (p.Glu12Asp)	VHL (E12D)	Single nucleotide variant (missense variant)	Chuvash polycythemia +5 more	GUncertain significance
Select item 1017783	NM_000551.4(VHL):c.40G>A (p.Gly14Ser)	VHL (G14S)	Single nucleotide variant (missense variant)	Chuvash polycythemia +2 more	GUncertain significance
Select item 456590	NM_000551.4(VHL):c.46G>T (p.Glu16Ter)	VHL (E16*)	Single nucleotide variant (nonsense)	not provided +3 more	GUncertain significance
Select item 385167	NM_000551.4(VHL):c.48G>A (p.Glu16=)	VHL	Single nucleotide variant (synonymous variant)	Chuvash polycythemia +3 more	GLikely benign
Select item 546000	NM_000551.4(VHL):c.49G>T (p.Glu17Ter)	VHL (E17*)	Single nucleotide variant (nonsense)	not provided +3 more	GUncertain significance
Select item 1052300	NM_000551.4(VHL):c.51G>T (p.Glu17Asp)	VHL (E17D)	Single nucleotide variant (missense variant)	Chuvash polycythemia +3 more	GUncertain significance
Select item 456591	NM_000551.4(VHL):c.53C>T (p.Ala18Val)	VHL (A18V)	Single nucleotide variant (missense variant)	Chuvash polycythemia +3 more	GUncertain significance
Select item 411957	NM_000551.4(VHL):c.62A>C (p.Glu21Ala)	VHL (E21A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 389023	NM_000551.4(VHL):c.66G>A (p.Glu22=)	VHL	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 93330	NM_000551.4(VHL):c.74C>T (p.Pro25Leu)	VHL (P25L)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GBenign FDA Recognized database
Select item 486718	NM_000551.4(VHL):c.82G>A (p.Asp28Asn)	VHL (D28N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 2070014	NM_000551.4(VHL):c.85G>T (p.Gly29Cys)	VHL (G29C)	Single nucleotide variant (missense variant)	Chuvash polycythemia +3 more	GUncertain significance
Select item 246132	NM_000551.4(VHL):c.86_87delinsTT (p.Gly29Val)	VHL (G29V)	Indel (missense variant)	Chuvash polycythemia +4 more	GUncertain significance
Select item 456597	NM_000551.4(VHL):c.87C>T (p.Gly29=)	VHL	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 1766167	NM_000551.4(VHL):c.91del (p.Glu31fs)	VHL (E31fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 566162	NM_000551.4(VHL):c.88G>A (p.Gly30Arg)	VHL (G30R)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 418538	NM_000551.4(VHL):c.89G>A (p.Gly30Glu)	VHL (G30E)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GLikely benign FDA Recognized database
Select item 856826	NM_000551.4(VHL):c.99_113dup (p.Ala35_Gly39dup)	VHL	Duplication (inframe_insertion)	Von Hippel-Lindau syndrome +3 more	GUncertain significance
Select item 186635	NM_000551.4(VHL):c.95A>G (p.Glu32Gly)	VHL (E32G)	Single nucleotide variant (missense variant)	Pheochromocytoma +5 more	GUncertain significance
Select item 1421024	NM_000551.4(VHL):c.97del (p.Ser33fs)	VHL (S33fs)	Deletion (frameshift variant)	not provided +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 456569	NM_000551.4(VHL):c.105C>G (p.Ala35=)	VHL	Single nucleotide variant (synonymous variant)	Chuvash polycythemia +3 more	GConflicting classifications of pathogenicity
Select item 456571	NM_000551.4(VHL):c.123_137dup (p.38SGPEE[3])	VHL	Duplication (inframe_insertion)	Chuvash polycythemia +3 more	GConflicting classifications of pathogenicity
Select item 216870	NM_000551.4(VHL):c.123_137del (p.38SGPEE[1])	VHL	Deletion (inframe_deletion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1303980	NM_000551.4(VHL):c.111G>C (p.Glu37Asp)	VHL (E37D)	Single nucleotide variant (missense variant)	Chuvash polycythemia +2 more	GUncertain significance
Select item 220918	NM_000551.4(VHL):c.114C>T (p.Ser38=)	VHL	Single nucleotide variant (synonymous variant)	Chuvash polycythemia +3 more	GBenign/Likely benign
Select item 411992	NM_000551.4(VHL):c.115G>C (p.Gly39Arg)	VHL (G39R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 1437880	NM_000551.4(VHL):c.116G>T (p.Gly39Val)	VHL (G39V)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 456570	NM_000551.4(VHL):c.116G>A (p.Gly39Asp)	VHL (G39D)	Single nucleotide variant (missense variant)	Chuvash polycythemia +3 more	GUncertain significance
Select item 383196	NM_000551.4(VHL):c.117C>T (p.Gly39=)	VHL	Single nucleotide variant (synonymous variant)	Chuvash polycythemia +3 more	GLikely benign
Select item 809420	NM_000551.4(VHL):c.119C>G (p.Pro40Arg)	VHL (P40R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 135405	NM_000551.4(VHL):c.119C>T (p.Pro40Leu)	VHL (P40L)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GBenign FDA Recognized database
Select item 423120	NM_000551.4(VHL):c.125A>C (p.Glu42Ala)	VHL (E42A)	Single nucleotide variant (missense variant)	Chuvash polycythemia +5 more	GUncertain significance
Select item 1035388	NM_000551.4(VHL):c.127T>C (p.Ser43Pro)	VHL (S43P)	Single nucleotide variant (missense variant)	Chuvash polycythemia +2 more	GUncertain significance
Select item 238100	NM_000551.4(VHL):c.134C>G (p.Pro45Arg)	VHL (P45R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 215765	NM_000551.4(VHL):c.135G>A (p.Pro45=)	VHL	Single nucleotide variant (synonymous variant)	Von Hippel-Lindau syndrome +3 more	GBenign/Likely benign
Select item 421185	NM_000551.4(VHL):c.149C>T (p.Ala50Val)	VHL (A50V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 43596	NM_000551.4(VHL):c.150C>G (p.Ala50=)	VHL	Single nucleotide variant (synonymous variant)	Von Hippel-Lindau syndrome	GBenign FDA Recognized database
Select item 182982	NM_000551.4(VHL):c.154G>T (p.Glu52Ter)	VHL (E52*)	Single nucleotide variant (nonsense)	Von Hippel-Lindau syndrome +7 more	GUncertain significance
Select item 161402	NM_000551.4(VHL):c.154G>A (p.Glu52Lys)	VHL (E52K)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GBenign FDA Recognized database
Select item 280053	NM_000551.4(VHL):c.164_171dup (p.Arg60fs)	VHL (R60fs)	Duplication (frameshift variant)	Chuvash polycythemia +2 more	GPathogenic

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