ClinVar for MedGen (Select 237026) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3594266	NM_000245.4(MET):c.3637G>A (p.Asp1213Asn)	MET (D1213N +2 more)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma type 1 +4 more	GUncertain significance
Select item 3594265	NM_000245.4(MET):c.2265-41G>C	MET (E760Q)	Single nucleotide variant (missense variant +1 more)	Papillary renal cell carcinoma type 1 +4 more	GUncertain significance
Select item 3594264	NM_000245.4(MET):c.2253A>T (p.Lys751Asn)	MET (K321N +1 more)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma type 1 +4 more	GUncertain significance
Select item 2585192	NM_000245.4(MET):c.2887+1G>T	MET	Single nucleotide variant (splice donor variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 2501298	NM_000245.4(MET):c.3400T>A (p.Phe1134Ile)	MET (F1134I +2 more)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 2431443	NM_005973.5(PRCC):c.722C>T (p.Ser241Leu)	PRCC (S241L)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 1796442	NM_000245.4(MET):c.2766A>G (p.Lys922=)	MET	Single nucleotide variant (synonymous variant)	Renal cell carcinoma +6 more	GUncertain significance
Select item 1782236	NM_000245.4(MET):c.1067del (p.Pro356fs)	MET (P356fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 1762344	NM_000245.4(MET):c.818C>T (p.Thr273Ile)	MET (T273I)	Single nucleotide variant (missense variant +1 more)	Hepatocellular carcinoma +6 more	GUncertain significance
Select item 1753220	NM_000245.4(MET):c.638C>T (p.Ser213Leu)	MET (S213L)	Single nucleotide variant (missense variant +1 more)	Hepatocellular carcinoma +7 more	GUncertain significance
Select item 1480925	NM_000245.4(MET):c.2893G>A (p.Gly965Ser)	MET (G535S +2 more)	Single nucleotide variant (missense variant)	Renal cell carcinoma +5 more	GUncertain significance
Select item 1444928	NM_000245.4(MET):c.1507C>G (p.Leu503Val)	MET (L73V +1 more)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma type 1 +1 more	GUncertain significance
Select item 1341329	NM_000245.4(MET):c.2828C>T (p.Thr943Ile)	MET (T513I +2 more)	Single nucleotide variant (missense variant)	Renal cell carcinoma +2 more	GConflicting classifications of pathogenicity
Select item 1208570	NM_000245.4(MET):c.3936-13_3936-10del	MET	Microsatellite (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1021858	NM_000245.4(MET):c.3403A>T (p.Ser1135Cys)	MET (S1135C +2 more)	Single nucleotide variant (missense variant)	Renal cell carcinoma +6 more	GConflicting classifications of pathogenicity
Select item 1003318	NC_000007.13:g.(?_116339133)_(116399550_?)dup	MET	Duplication	Renal cell carcinoma +1 more	GUncertain significance
Select item 1003317	NC_000007.14:g.(?_116740846)_(116741031_?)del	MET	Deletion	Renal cell carcinoma +1 more	GUncertain significance
Select item 971936	NM_000245.4(MET):c.4122C>A (p.Asn1374Lys)	MET (N1392K +2 more)	Single nucleotide variant (missense variant)	Renal cell carcinoma +6 more	GConflicting classifications of pathogenicity
Select item 958823	NM_000245.4(MET):c.3208G>T (p.Val1070Leu)	MET (V1088L +2 more)	Single nucleotide variant (missense variant)	Renal cell carcinoma +6 more	GUncertain significance
Select item 912198	NM_000245.4(MET):c.*2147T>C	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 912197	NM_000245.4(MET):c.*2100C>T	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GBenign
Select item 912196	NM_000245.4(MET):c.*1929A>G	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 912134	NM_000245.4(MET):c.*803T>A	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 912133	NM_000245.4(MET):c.*786C>T	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 911965	NM_000245.4(MET):c.-109C>T	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 911964	NM_000245.4(MET):c.-182C>A	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	Papillary renal cell carcinoma type 1	GBenign
Select item 910969	NM_000245.4(MET):c.*1909A>G	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 910968	NM_000245.4(MET):c.*1878A>G	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 910967	NM_000245.4(MET):c.*1871G>A	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GBenign
Select item 910966	NM_000245.4(MET):c.*1714C>A	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 910905	NM_000245.4(MET):c.*530G>A	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 910904	NM_000245.4(MET):c.*493A>C	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 910903	NM_000245.4(MET):c.*480T>C	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 910902	NM_000245.4(MET):c.*438T>A	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 910901	NM_000245.4(MET):c.*397A>G	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GBenign
Select item 910849	NM_000245.4(MET):c.3246A>T (p.Glu1082Asp)	MET (E1082D +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 910796	NM_000245.4(MET):c.847T>C (p.Ser283Pro)	MET (S283P)	Single nucleotide variant (missense variant +1 more)	Papillary renal cell carcinoma type 1 +1 more	GUncertain significance
Select item 910072	NM_000245.4(MET):c.*1637G>A	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 910071	NM_000245.4(MET):c.*1477C>T	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 910070	NM_000245.4(MET):c.*1359T>C	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 910015	NM_000245.4(MET):c.*376G>T	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GBenign
Select item 910014	NM_000245.4(MET):c.*359G>A	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 910013	NM_000245.4(MET):c.*296G>C	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 910012	NM_000245.4(MET):c.*201C>T	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GBenign
Select item 909949	NM_000245.4(MET):c.2673C>T (p.Ala891=)	MET	Single nucleotide variant (synonymous variant)	Papillary renal cell carcinoma type 1 +3 more	GConflicting classifications of pathogenicity
Select item 909032	NM_000245.4(MET):c.-35C>G	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 908192	NM_000245.4(MET):c.*2245G>T	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 908191	NM_000245.4(MET):c.*2202G>T	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 908122	NM_000245.4(MET):c.*1244G>T	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 908121	NM_000245.4(MET):c.*1244G>A	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GBenign
Select item 908120	NM_000245.4(MET):c.*1233G>A	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GBenign
Select item 908058	NM_000245.4(MET):c.*27C>A	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 908057	NM_000245.4(MET):c.*2G>T	MET	Single nucleotide variant (3 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 848962	NM_000245.4(MET):c.1450C>T (p.His484Tyr)	MET (H484Y +1 more)	Single nucleotide variant (missense variant)	Renal cell carcinoma +6 more	GConflicting classifications of pathogenicity
Select item 847503	NM_000245.4(MET):c.2510A>G (p.His837Arg)	MET (H855R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 97 +4 more	GUncertain significance
Select item 832473	NC_000007.14:g.(?_116699075)_(117667118_?)del	ASZ1, CAPZA2 +7 more	Deletion	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 832341	NC_000007.14:g.(?_116699075)_(116796134_?)dup	MET	Duplication	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 832283	NC_000007.14:g.(?_116740842)_(116796134_?)dup	MET	Duplication	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 831589	NC_000007.14:g.(?_116699085)_(116700294_?)dup	MET	Duplication	Renal cell carcinoma +1 more	GUncertain significance
Select item 824911	NM_000245.4(MET):c.446A>G (p.Asn149Ser)	MET (N149S)	Single nucleotide variant (missense variant +1 more)	Renal cell carcinoma +5 more	GUncertain significance
Select item 824062	NM_000245.4(MET):c.367G>A (p.Asp123Asn)	MET (D123N)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 822441	NM_000245.4(MET):c.2935C>T (p.His979Tyr)	MET (H549Y +2 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, IIa 11 +5 more	GUncertain significance
Select item 819874	NM_000245.4(MET):c.16G>T (p.Val6Leu)	MET (V6L)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 819701	NM_000245.4(MET):c.1627G>A (p.Asp543Asn)	MET (D113N +1 more)	Single nucleotide variant (missense variant)	Renal cell carcinoma +3 more	GConflicting classifications of pathogenicity
Select item 802355	NM_000245.4(MET):c.4140C>A (p.Asp1380Glu)	MET (D1380E +2 more)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 802354	NM_000245.4(MET):c.3632+42C>G	MET	Single nucleotide variant (intron variant)	Papillary renal cell carcinoma type 1	GLikely benign
Select item 802353	NM_000245.4(MET):c.2892G>A (p.Leu964=)	MET	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 802352	NM_000245.4(MET):c.2584-1G>T	MET	Single nucleotide variant (splice acceptor variant)	Papillary renal cell carcinoma type 1	GLikely benign
Select item 802351	NM_000245.4(MET):c.2584-9del	MET	Deletion (intron variant)	Autosomal recessive nonsyndromic hearing loss 97 +3 more	GBenign
Select item 802350	NM_000245.4(MET):c.2365-21G>C	MET	Single nucleotide variant (intron variant)	Papillary renal cell carcinoma type 1 +1 more	GLikely benign
Select item 802349	NM_000245.4(MET):c.2103-2A>T	MET	Single nucleotide variant (splice acceptor variant)	Papillary renal cell carcinoma type 1	GLikely benign
Select item 802348	NM_000245.4(MET):c.1701+59G>T	MET	Single nucleotide variant (intron variant)	Papillary renal cell carcinoma type 1	GBenign
Select item 802347	NM_000245.4(MET):c.1701+58dup	MET	Duplication (intron variant)	not provided +2 more	GBenign
Select item 802346	NM_000245.4(MET):c.1393-1G>T	MET	Single nucleotide variant (splice acceptor variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 802345	NM_000245.4(MET):c.1393-2A>T	MET	Single nucleotide variant (splice acceptor variant)	Papillary renal cell carcinoma type 1	GLikely benign
Select item 802344	NM_000245.4(MET):c.410A>G (p.Asn137Ser)	MET (N137S)	Single nucleotide variant (missense variant +1 more)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 801437	NM_004958.4(MTOR):c.889G>A (p.Asp297Asn)	MTOR (D297N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 801436	NM_004958.4(MTOR):c.3026G>A (p.Arg1009Gln)	MTOR (R1009Q)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma type 1	GPathogenic
Select item 799234	NM_000245.4(MET):c.252C>T (p.Tyr84=)	MET	Single nucleotide variant (synonymous variant +1 more)	Renal cell carcinoma +1 more	GLikely benign
Select item 757215	NM_000245.4(MET):c.51C>T (p.Thr17=)	MET	Single nucleotide variant (synonymous variant +1 more)	Papillary renal cell carcinoma type 1	GLikely benign
Select item 702358	NM_000245.4(MET):c.600C>G (p.Thr200=)	MET	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 694389	NM_000551.4(VHL):c.530_536del (p.Arg177fs)	LOC107303340, VHL (R136fs +1 more)	Deletion (frameshift variant +1 more)	Skin adenoma +3 more	GPathogenic
Select item 665399	NM_000245.4(MET):c.1414C>T (p.Pro472Ser)	MET (P472S +1 more)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma type 1 +7 more	GConflicting classifications of pathogenicity
Select item 665074	NM_000245.4(MET):c.4118A>G (p.Asp1373Gly)	MET (D1391G +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 661068	NM_000245.4(MET):c.1973T>C (p.Val658Ala)	MET (V228A +1 more)	Single nucleotide variant (missense variant)	Renal cell carcinoma +1 more	GConflicting classifications of pathogenicity
Select item 659033	NM_000245.4(MET):c.3091A>G (p.Met1031Val)	MET (M1049V +2 more)	Single nucleotide variant (missense variant)	Renal cell carcinoma +3 more	GConflicting classifications of pathogenicity
Select item 653224	NM_000245.4(MET):c.2914G>A (p.Asp972Asn)	MET (D990N +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 653118	NM_000245.4(MET):c.2917G>A (p.Ala973Thr)	MET (A991T +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 647594	NM_000245.4(MET):c.800A>G (p.Glu267Gly)	MET (E267G)	Single nucleotide variant (missense variant +1 more)	Papillary renal cell carcinoma type 1 +6 more	GConflicting classifications of pathogenicity
Select item 643144	NC_000007.13:g.(?_116395399)_(116395579_?)dup	MET	Duplication	Renal cell carcinoma +1 more	GUncertain significance
Select item 584721	NM_000245.4(MET):c.4041G>T (p.Glu1347Asp)	MET (E1365D +2 more)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 584720	NM_000245.4(MET):c.3991T>G (p.Ser1331Ala)	MET (S1349A +2 more)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma type 1 +1 more	GUncertain significance
Select item 584719	NM_000245.4(MET):c.3878C>G (p.Thr1293Ser)	MET (T1311S +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 584718	NM_000245.4(MET):c.2995G>C (p.Glu999Gln)	MET (E1017Q +2 more)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 584717	NM_000245.4(MET):c.2672C>G (p.Ala891Gly)	MET (A909G +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 584716	NM_000245.4(MET):c.2584-3C>T	MET	Single nucleotide variant (intron variant)	Renal cell carcinoma +1 more	GConflicting classifications of pathogenicity
Select item 584715	NM_000245.4(MET):c.2103-1G>T	MET	Single nucleotide variant (splice acceptor variant)	Papillary renal cell carcinoma type 1	GLikely benign
Select item 584714	NM_000245.4(MET):c.1866G>C (p.Leu622Phe)	MET (L622F +1 more)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 584713	NM_000245.4(MET):c.1640G>A (p.Arg547Gln)	MET (R547Q +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 584712	NM_000245.4(MET):c.1508T>A (p.Leu503Gln)	MET (L503Q +1 more)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma type 1	GUncertain significance

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