6307[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 57309	GRCh38/hg38 4q12(chr4:51870025-55102392)x1	CHIC2, DANCR +65 more	Copy number loss	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
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 3040151	NM_002253.4(KDR):c.3988A>T (p.Ile1330Leu)	KDR (I1330L)	Single nucleotide variant (missense variant)	KDR-related disorder	GBenign
Select item 3287999	NM_002253.4(KDR):c.3947C>A (p.Thr1316Asn)	KDR (T1316N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058351	NM_002253.4(KDR):c.3933C>T (p.Ser1311=)	KDR	Single nucleotide variant (synonymous variant)	KDR-related disorder	GLikely benign
Select item 700891	NM_002253.4(KDR):c.3888T>A (p.Ser1296=)	KDR	Single nucleotide variant (synonymous 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 3113938	NM_002253.4(KDR):c.3856G>C (p.Val1286Leu)	KDR (V1286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038057	NM_002253.4(KDR):c.3849T>A (p.Gly1283=)	KDR	Single nucleotide variant (synonymous variant)	KDR-related disorder	GLikely benign
Select item 518355	NM_002253.4(KDR):c.3848+15T>C	KDR	Single nucleotide variant (intron variant)	not provided	GBenign
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 134609	NM_002253.4(KDR):c.3808A>C (p.Lys1270Gln)	KDR (K1270Q)	Single nucleotide variant (missense variant)	not specified	Gnot provided
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 2498268	NM_002253.4(KDR):c.3773C>T (p.Thr1258Met)	KDR (T1258M)	Single nucleotide variant (missense variant)	Teratoma	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 3113936	NM_002253.4(KDR):c.3668A>G (p.Tyr1223Cys)	KDR (Y1223C)	Single nucleotide variant (missense variant)	not specified	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 3057489	NM_002253.4(KDR):c.3510+10C>T	KDR	Single nucleotide variant (intron variant)	KDR-related disorder	GLikely benign
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 204338	NM_002253.4(KDR):c.3487C>T (p.Leu1163Phe)	KDR (L1163F)	Single nucleotide variant (missense variant)	Carcinoma of colon	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 204337	NM_002253.4(KDR):c.3465G>A (p.Glu1155=)	KDR	Single nucleotide variant (synonymous variant)	Carcinoma of colon	GUncertain significance
Select item 3052916	NM_002253.4(KDR):c.3456G>A (p.Thr1152=)	KDR	Single nucleotide variant (synonymous variant)	KDR-related disorder	GLikely benign
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 204336	NM_002253.4(KDR):c.3441C>G (p.Pro1147=)	KDR	Single nucleotide variant (synonymous variant)	Carcinoma of colon	GUncertain significance
Select item 12317	NM_002253.4(KDR):c.3439C>T (p.Pro1147Ser)	KDR (P1147S)	Single nucleotide variant (missense variant)	Capillary infantile hemangioma	GPathogenic
Select item 204335	NM_002253.4(KDR):c.3405-4C>T	KDR	Single nucleotide variant (intron variant)	Carcinoma of colon	GUncertain significance
Select item 2691763	NM_002253.4(KDR):c.3274G>C (p.Gly1092Arg)	KDR (G1092R)	Single nucleotide variant (missense variant)	KDR-related disorder	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 696183	NM_002253.4(KDR):c.3132C>A (p.Ile1044=)	KDR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 695502	NM_002253.4(KDR):c.3090G>A (p.Ala1030=)	KDR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3257859	NM_002253.4(KDR):c.3064C>T (p.Arg1022Ter)	KDR (R1022*)	Single nucleotide variant (nonsense)	Neoplasm	OUncertain 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 3288002	NM_002253.4(KDR):c.2983C>A (p.Leu995Met)	KDR (L995M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 423599	NM_002253.4(KDR):c.2971+3A>G	KDR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3058767	NM_002253.4(KDR):c.2868T>G (p.Pro956=)	KDR	Single nucleotide variant (synonymous variant)	KDR-related disorder	GLikely benign
Select item 3046459	NM_002253.4(KDR):c.2823A>G (p.Lys941=)	KDR	Single nucleotide variant (synonymous variant)	KDR-related disorder	GLikely benign
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 204329	NM_002253.4(KDR):c.2721G>C (p.Lys907Asn)	KDR (K907N)	Single nucleotide variant (missense variant)	Carcinoma of colon	GUncertain significance
Select item 204328	NM_002253.4(KDR):c.2705T>A (p.Leu902Gln)	KDR (L902Q)	Single nucleotide variant (missense variant)	Carcinoma of colon	GUncertain significance
Select item 204327	NM_002253.4(KDR):c.2676T>A (p.Ile892=)	KDR	Single nucleotide variant (synonymous variant)	Carcinoma of colon	GUncertain significance
Select item 134608	NM_002253.4(KDR):c.2674A>G (p.Ile892Val)	KDR (I892V)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 204326	NM_002253.4(KDR):c.2656C>A (p.Leu886Ile)	KDR (L886I)	Single nucleotide variant (missense variant)	Carcinoma of colon	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 204325	NM_002253.4(KDR):c.2615-23C>T	KDR	Single nucleotide variant (intron variant)	Carcinoma of colon	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 204334	NM_002253.4(KDR):c.2598A>C (p.Ala866=)	KDR	Single nucleotide variant (synonymous variant)	Carcinoma of colon	GUncertain significance
Select item 699937	NM_002253.4(KDR):c.2556T>C (p.Asp852=)	KDR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 204333	NM_002253.4(KDR):c.2544G>T (p.Val848=)	KDR	Single nucleotide variant (synonymous variant)	Carcinoma of colon	GUncertain significance
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 204332	NM_002253.4(KDR):c.2510-27del	KDR	Deletion (intron variant)	Carcinoma of colon	GUncertain significance
Select item 204331	NM_002253.4(KDR):c.2509+20T>A	KDR	Single nucleotide variant (intron variant)	Carcinoma of colon	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 204330	NM_002253.4(KDR):c.2380G>A (p.Gly794Arg)	KDR (G794R)	Single nucleotide variant (missense variant)	Carcinoma of colon	GUncertain significance
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 161593	NM_002253.4(KDR):c.2360G>A (p.Arg787Gln)	KDR (R787Q)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
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 134607	NM_002253.4(KDR):c.2305G>A (p.Val769Ile)	KDR (V769I)	Single nucleotide variant (missense variant)	not specified	Gnot provided
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 2348108	NM_002253.4(KDR):c.2270C>G (p.Ala757Gly)	KDR (A757G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 391912	NM_002253.4(KDR):c.2266+1G>T	KDR	Single nucleotide variant (splice donor variant)	not provided	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 2609178	NM_002253.4(KDR):c.2243T>G (p.Val748Gly)	KDR (V748G)	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 2554334	NM_002253.4(KDR):c.2182A>G (p.Arg728Gly)	KDR (R728G)	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 134606	NM_002253.4(KDR):c.2066C>T (p.Thr689Met)	KDR (T689M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3288003	NM_002253.4(KDR):c.2056G>C (p.Val686Leu)	KDR (V686L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 700436	NM_002253.4(KDR):c.2022G>C (p.Glu674Asp)	KDR (E674D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 932462	NM_002253.4(KDR):c.2012G>A (p.Gly671Glu)	KDR (G671E)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 135551	NM_002253.4(KDR):c.1987+28C>T	KDR	Single nucleotide variant (intron variant)	not specified	Gnot provided
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 695607	NM_002253.4(KDR):c.1834T>C (p.Leu612=)	KDR	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2654762	NM_002253.4(KDR):c.1768C>T (p.Pro590Ser)	KDR (P590S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2222958	NM_002253.4(KDR):c.1697G>A (p.Ser566Asn)	KDR (S566N)	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 3288006	NM_002253.4(KDR):c.1648G>T (p.Gly550Cys)	KDR (G550C)	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 697105	NM_002253.4(KDR):c.1638C>T (p.His546=)	KDR	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3237450	NM_002253.4(KDR):c.1616G>A (p.Gly539Glu)	KDR (G539E)	Single nucleotide variant (missense variant)	Capillary infantile hemangioma	GUncertain significance
Select item 134605	NM_002253.4(KDR):c.1615G>A (p.Gly539Arg)	KDR (G539R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 695646	NM_002253.4(KDR):c.1596G>A (p.Ala532=)	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 699555	NM_002253.4(KDR):c.1575A>G (p.Ser525=)	KDR	Single nucleotide variant (synonymous variant)	not provided	GBenign

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