ClinVar for Gene (Select 3791) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3113939	NM_002253.4(KDR):c.52C>T (p.Arg18Trp)	KDR (R18W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113938	NM_002253.4(KDR):c.3856G>C (p.Val1286Leu)	KDR (V1286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113936	NM_002253.4(KDR):c.3668A>G (p.Tyr1223Cys)	KDR (Y1223C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113935	NM_002253.4(KDR):c.3190G>A (p.Asp1064Asn)	KDR (D1064N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113934	NM_002253.4(KDR):c.2627A>G (p.His876Arg)	KDR (H876R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113933	NM_002253.4(KDR):c.2494G>C (p.Asp832His)	KDR (D832H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113932	NM_002253.4(KDR):c.2427T>G (p.Asp809Glu)	KDR (D809E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113931	NM_002253.4(KDR):c.2383G>A (p.Gly795Arg)	KDR (G795R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113930	NM_002253.4(KDR):c.2300T>C (p.Ile767Thr)	KDR (I767T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113929	NM_002253.4(KDR):c.2205C>T (p.Tyr735=)	KDR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3113928	NM_002253.4(KDR):c.2044G>A (p.Glu682Lys)	KDR (E682K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113927	NM_002253.4(KDR):c.1819G>C (p.Asp607His)	KDR (D607H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113926	NM_002253.4(KDR):c.1639G>A (p.Val547Met)	KDR (V547M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113924	NM_002253.4(KDR):c.1418C>A (p.Ala473Asp)	KDR (A473D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113923	NM_002253.4(KDR):c.1247T>C (p.Val416Ala)	KDR (V416A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062017	NM_002253.4(KDR):c.2614+1G>A	KDR	Single nucleotide variant (splice donor variant)	Tetralogy of Fallot	GLikely pathogenic
Select item 3058767	NM_002253.4(KDR):c.2868T>G (p.Pro956=)	KDR	Single nucleotide variant (synonymous variant)	KDR-related condition	GLikely benign
Select item 3058351	NM_002253.4(KDR):c.3933C>T (p.Ser1311=)	KDR	Single nucleotide variant (synonymous variant)	KDR-related condition	GLikely benign
Select item 3057489	NM_002253.4(KDR):c.3510+10C>T	KDR	Single nucleotide variant (intron variant)	KDR-related condition	GLikely benign
Select item 3052916	NM_002253.4(KDR):c.3456G>A (p.Thr1152=)	KDR	Single nucleotide variant (synonymous variant)	KDR-related condition	GLikely benign
Select item 3051014	NM_002253.4(KDR):c.1537-6G>A	KDR	Single nucleotide variant (intron variant)	KDR-related condition	GLikely benign
Select item 3046459	NM_002253.4(KDR):c.2823A>G (p.Lys941=)	KDR	Single nucleotide variant (synonymous variant)	KDR-related condition	GLikely benign
Select item 3040151	NM_002253.4(KDR):c.3988A>T (p.Ile1330Leu)	KDR (I1330L)	Single nucleotide variant (missense variant)	KDR-related condition	GBenign
Select item 3038057	NM_002253.4(KDR):c.3849T>A (p.Gly1283=)	KDR	Single nucleotide variant (synonymous variant)	KDR-related condition	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2691763	NM_002253.4(KDR):c.3274G>C (p.Gly1092Arg)	KDR (G1092R)	Single nucleotide variant (missense variant)	KDR-related condition	GUncertain significance
Select item 2685108	GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 2685038	GRCh37/hg19 4q12(chr4:55517082-56227984)x4	KDR, KIT +1 more	Copy number gain	not provided	GUncertain significance
Select item 2672215	NM_002253.4(KDR):c.3663T>C (p.Ser1221=)	KDR	Single nucleotide variant (synonymous variant)	Capillary infantile hemangioma	GUncertain significance
Select item 2672213	NM_002253.4(KDR):c.1136C>T (p.Ala379Val)	KDR (A379V)	Single nucleotide variant (missense variant)	Tufted angioma of skin	GUncertain significance
Select item 2654762	NM_002253.4(KDR):c.1768C>T (p.Pro590Ser)	KDR (P590S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654761	NM_002253.4(KDR):c.3872G>T (p.Arg1291Met)	KDR (R1291M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2609178	NM_002253.4(KDR):c.2243T>G (p.Val748Gly)	KDR (V748G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2558677	NM_002253.4(KDR):c.1745C>G (p.Thr582Arg)	KDR (T582R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554334	NM_002253.4(KDR):c.2182A>G (p.Arg728Gly)	KDR (R728G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552980	NM_002253.4(KDR):c.2258T>A (p.Ile753Lys)	KDR (I753K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540343	NM_002253.4(KDR):c.1621A>T (p.Arg541Trp)	KDR (R541W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535076	NM_002253.4(KDR):c.1176C>G (p.Asp392Glu)	KDR (D392E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535047	NM_002253.4(KDR):c.548A>G (p.Lys183Arg)	KDR (K183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533981	NM_002253.4(KDR):c.304A>G (p.Lys102Glu)	KDR (K102E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498268	NM_002253.4(KDR):c.3773C>T (p.Thr1258Met)	KDR (T1258M)	Single nucleotide variant (missense variant)	Teratoma	GUncertain significance
Select item 2479393	NM_002253.4(KDR):c.3790C>T (p.Leu1264Phe)	KDR (L1264F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426476	NC_000004.11:g.(?_55124936)_(57368027_?)del	AASDH, CEP135 +13 more	Deletion	not provided	GPathogenic
Select item 2401448	NM_002253.4(KDR):c.2374G>A (p.Ala792Thr)	KDR (A792T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391266	NM_002253.4(KDR):c.2078A>C (p.Asn693Thr)	KDR (N693T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387037	NM_002253.4(KDR):c.1978A>G (p.Thr660Ala)	KDR (T660A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366684	NM_002253.4(KDR):c.1930G>A (p.Ala644Thr)	KDR (A644T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348108	NM_002253.4(KDR):c.2270C>G (p.Ala757Gly)	KDR (A757G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339818	NM_002253.4(KDR):c.2549A>C (p.Glu850Ala)	KDR (E850A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335202	NM_002253.4(KDR):c.1674C>A (p.Asp558Glu)	KDR (D558E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311158	NM_002253.4(KDR):c.3496G>A (p.Ala1166Thr)	KDR (A1166T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285729	NM_002253.4(KDR):c.350A>G (p.Tyr117Cys)	KDR (Y117C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254929	NM_002253.4(KDR):c.4010G>A (p.Gly1337Asp)	KDR (G1337D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252425	NM_002253.4(KDR):c.259A>G (p.Thr87Ala)	KDR (T87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242501	NM_002253.4(KDR):c.1216A>G (p.Lys406Glu)	KDR (K406E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234243	NM_002253.4(KDR):c.716G>A (p.Gly239Glu)	KDR (G239E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233916	NM_002253.4(KDR):c.3817G>C (p.Glu1273Gln)	KDR (E1273Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227055	NM_002253.4(KDR):c.1362T>A (p.His454Gln)	KDR (H454Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223352	NM_002253.4(KDR):c.3686G>A (p.Arg1229Gln)	KDR (R1229Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222958	NM_002253.4(KDR):c.1697G>A (p.Ser566Asn)	KDR (S566N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220614	NM_002253.4(KDR):c.3475C>T (p.His1159Tyr)	KDR (H1159Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809135	GRCh37/hg19 4q12(chr4:55800120-55960636)x1	KDR	Copy number loss	not provided	GUncertain significance
Select item 1808462	GRCh37/hg19 4q11-12(chr4:52685980-59272025)x3	AASDH, ARL9 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1710210	NM_002253.4(KDR):c.3006G>C (p.Leu1002Phe)	KDR (L1002F)	Single nucleotide variant (missense variant)	Capillary infantile hemangioma	GUncertain significance
Select item 1703552	GRCh37/hg19 4q12(chr4:53688710-56491447)	CHIC2, CLOCK +12 more	Copy number loss	Piebaldism	GPathogenic
Select item 1433363	NC_000004.11:g.(?_55124936)_(57798318_?)dup	SPINK2, SRP72 +18 more	Duplication	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1340920	GRCh37/hg19 4q11-12(chr4:52685685-58104722)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1110788	NM_002253.4(KDR):c.2525G>A (p.Arg842His)	KDR (R842H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	LOC110120745, LOC129992610 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 1050415	NM_002253.4(KDR):c.3445C>G (p.Gln1149Glu)	KDR (Q1149E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 932462	NM_002253.4(KDR):c.2012G>A (p.Gly671Glu)	KDR (G671E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 765114	NM_002253.4(KDR):c.1440C>T (p.Tyr480=)	KDR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749389	NM_002253.4(KDR):c.837C>T (p.Thr279=)	KDR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 747904	NM_002253.4(KDR):c.1593A>G (p.Glu531=)	KDR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 700891	NM_002253.4(KDR):c.3888T>A (p.Ser1296=)	KDR	Single nucleotide variant (synonymous variant)	KDR-related condition +1 more	GLikely benign
Select item 700436	NM_002253.4(KDR):c.2022G>C (p.Glu674Asp)	KDR (E674D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 699937	NM_002253.4(KDR):c.2556T>C (p.Asp852=)	KDR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 699555	NM_002253.4(KDR):c.1575A>G (p.Ser525=)	KDR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 698917	NM_002253.4(KDR):c.1137G>A (p.Ala379=)	KDR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 698514	NM_002253.4(KDR):c.1326G>A (p.Thr442=)	KDR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 697553	NM_002253.4(KDR):c.1092-6T>C	KDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 697203	NM_002253.4(KDR):c.1029G>A (p.Thr343=)	KDR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 697105	NM_002253.4(KDR):c.1638C>T (p.His546=)	KDR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 696183	NM_002253.4(KDR):c.3132C>A (p.Ile1044=)	KDR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 695647	NM_002253.4(KDR):c.204T>C (p.Ser68=)	KDR	Single nucleotide variant (synonymous variant)	KDR-related condition +1 more	GBenign
Select item 695646	NM_002253.4(KDR):c.1596G>A (p.Ala532=)	KDR	Single nucleotide variant (synonymous variant)	KDR-related condition +1 more	GBenign
Select item 695607	NM_002253.4(KDR):c.1834T>C (p.Leu612=)	KDR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 695564	NM_002253.4(KDR):c.2743A>G (p.Ile915Val)	KDR (I915V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 695502	NM_002253.4(KDR):c.3090G>A (p.Ala1030=)	KDR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 695374	NM_002253.4(KDR):c.1256-10C>T	KDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 623416	NM_002253.4(KDR):c.2312C>T (p.Thr771Met)	KDR (T771M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 518355	NM_002253.4(KDR):c.3848+15T>C	KDR	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 423599	NM_002253.4(KDR):c.2971+3A>G	KDR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 391912	NM_002253.4(KDR):c.2266+1G>T	KDR	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance

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