FLT4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995188, LOC129995189 +863 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	LOC129995377, LOC129995378 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	ADAMTS2, ARL10 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	ADAMTS2, ARL10 +386 more	Copy number loss	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	LOC129995370, LOC129995371 +325 more	Copy number loss	See cases	GPathogenic
Select item 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance
Select item 145959	GRCh38/hg38 5q35.3(chr5:179669736-180897169)x1	CANX, CBY3 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 146663	GRCh38/hg38 5q35.3(chr5:180581319-180846638)x3	FLT4, HEIH +16 more	Copy number gain	See cases	GBenign
Select item 1274028	NM_182925.5(FLT4):c.*60G>A	FLT4	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2502010	NM_182925.5(FLT4):c.4079ACA[1] (p.Asn1361del)	FLT4 (N1361del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3042470	NM_182925.5(FLT4):c.4063G>A (p.Val1355Met)	FLT4 (V1355M)	Single nucleotide variant (missense variant)	FLT4-related condition	GBenign
Select item 2634512	NM_182925.5(FLT4):c.4051C>T (p.Pro1351Ser)	FLT4 (P1351S)	Single nucleotide variant (missense variant)	FLT4-related condition	GUncertain significance
Select item 3030230	NM_182925.5(FLT4):c.4033G>A (p.Glu1345Lys)	FLT4 (E1345K)	Single nucleotide variant (missense variant)	FLT4-related condition	GUncertain significance
Select item 1330670	NM_182925.5(FLT4):c.4006G>A (p.Glu1336Lys)	FLT4 (E1336K)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 263059	NM_182925.5(FLT4):c.4005C>T (p.Ser1335=)	FLT4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2307716	NM_182925.5(FLT4):c.4001A>G (p.Asn1334Ser)	FLT4 (N1334S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1300689	NM_182925.5(FLT4):c.3999C>A (p.Tyr1333Ter)	FLT4 (Y1333*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3032945	NM_182925.5(FLT4):c.3993G>A (p.Val1331=)	FLT4	Single nucleotide variant (synonymous variant)	FLT4-related condition	GLikely benign
Select item 2689081	NM_182925.5(FLT4):c.3977C>T (p.Ala1326Val)	FLT4 (A1326V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 263057	NM_182925.5(FLT4):c.3971G>T (p.Arg1324Leu)	FLT4 (R1324L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 263056	NM_182925.5(FLT4):c.3971G>C (p.Arg1324Pro)	FLT4 (R1324P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 263055	NM_182925.5(FLT4):c.3962G>A (p.Arg1321Gln)	FLT4 (R1321Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2217717	NM_182925.5(FLT4):c.3961C>T (p.Arg1321Trp)	FLT4 (R1321W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 263054	NM_182925.5(FLT4):c.3959G>A (p.Arg1320Gln)	FLT4 (R1320Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 263053	NM_182925.5(FLT4):c.3908G>C (p.Gly1303Ala)	FLT4 (G1303A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 997920	NM_182925.5(FLT4):c.3894-1G>A	FLT4	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 812613	NM_182925.5(FLT4):c.3332-356_3894-1373del	FLT4	Deletion (splice acceptor variant +1 more)	Congenital heart defects, multiple types, 7	GPathogenic
Select item 1279900	NM_182925.5(FLT4):c.3893+621G>A	FLT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252124	NM_182925.5(FLT4):c.3893+464G>A	FLT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268187	NM_182925.5(FLT4):c.3893+176G>A	FLT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2656151	NM_182925.5(FLT4):c.3893+131G>A	FLT4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 695345	NM_182925.5(FLT4):c.3886G>A (p.Gly1296Ser)	FLT4 (G1296S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3045605	NM_182925.5(FLT4):c.3885C>T (p.Ser1295=)	FLT4	Single nucleotide variant (synonymous variant)	FLT4-related condition	GLikely benign
Select item 695503	NM_182925.5(FLT4):c.3867C>T (p.Ser1289=)	FLT4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2632448	NM_182925.5(FLT4):c.3865A>C (p.Ser1289Arg)	FLT4 (S1289R)	Single nucleotide variant (missense variant)	FLT4-related condition	GUncertain significance
Select item 1314540	NM_182925.5(FLT4):c.3862G>C (p.Glu1288Gln)	FLT4 (E1288Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635102	NM_182925.5(FLT4):c.3827G>A (p.Gly1276Glu)	FLT4 (G1276E)	Single nucleotide variant (missense variant)	FLT4-related condition	GLikely pathogenic
Select item 3043868	NM_182925.5(FLT4):c.3825T>C (p.Ser1275=)	FLT4	Single nucleotide variant (synonymous variant)	FLT4-related condition	GLikely benign
Select item 2636556	NM_182925.5(FLT4):c.3824_3825delinsTC (p.Ser1275Ile)	FLT4 (S1275I)	Indel (missense variant)	FLT4-related condition	GUncertain significance
Select item 2443468	NM_182925.5(FLT4):c.3824G>C (p.Ser1275Thr)	FLT4 (S1275T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030389	NM_182925.5(FLT4):c.3821A>T (p.Asp1274Val)	FLT4 (D1274V)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I	GLikely pathogenic
Select item 2562460	NM_182925.5(FLT4):c.3813C>G (p.Asn1271Lys)	FLT4 (N1271K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498995	NM_182925.5(FLT4):c.3808-127G>C	FLT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236979	NM_182925.5(FLT4):c.3808-186C>T	FLT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263780	NM_182925.5(FLT4):c.3808-265T>C	FLT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 263052	NM_182925.5(FLT4):c.3807+34G>C	FLT4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2270022	NM_182925.5(FLT4):c.3784C>T (p.Pro1262Ser)	FLT4 (P1262S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292955	NM_182925.5(FLT4):c.3778A>G (p.Met1260Val)	FLT4 (M1260V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246059	NM_182925.5(FLT4):c.3753G>T (p.Arg1251Ser)	FLT4 (R1251S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048685	NM_182925.5(FLT4):c.3712G>T (p.Gly1238Trp)	FLT4 (G1238W)	Single nucleotide variant (missense variant)	FLT4-related condition	GUncertain significance
Select item 1279155	NM_182925.5(FLT4):c.3687-292G>A	FLT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247425	NM_182925.5(FLT4):c.3686+79dup	FLT4	Duplication (intron variant)	not provided	GBenign
Select item 701829	NM_182925.5(FLT4):c.3681C>T (p.Ala1227=)	FLT4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2592701	NM_182925.5(FLT4):c.3653C>T (p.Pro1218Leu)	FLT4 (P1218L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 930555	NM_182925.5(FLT4):c.3610A>G (p.Thr1204Ala)	FLT4 (T1204A)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I	GUncertain significance
Select item 3029080	NM_182925.5(FLT4):c.3588G>A (p.Glu1196=)	FLT4	Single nucleotide variant (synonymous variant)	FLT4-related condition	GLikely benign
Select item 812614	NM_182925.5(FLT4):c.3574C>T (p.Gln1192Ter)	FLT4 (Q1192*)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 7	GPathogenic
Select item 3031890	NM_182925.5(FLT4):c.3571T>C (p.Ser1191Pro)	FLT4 (S1191P)	Single nucleotide variant (missense variant)	FLT4-related condition	GUncertain significance
Select item 2520989	NM_182925.5(FLT4):c.3566G>A (p.Arg1189His)	FLT4 (R1189H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468053	NM_182925.5(FLT4):c.3556A>G (p.Met1186Val)	FLT4 (M1186V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399927	NM_182925.5(FLT4):c.3546G>C (p.Glu1182Asp)	FLT4 (E1182D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1282154	NM_182925.5(FLT4):c.3538-66T>C	FLT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227962	NM_182925.5(FLT4):c.3538-201_3538-200del	FLT4	Deletion (intron variant)	not provided	GBenign
Select item 1273581	NM_182925.5(FLT4):c.3538-217G>A	FLT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268628	NM_182925.5(FLT4):c.3538-232G>A	FLT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252296	NM_182925.5(FLT4):c.3537+319T>C	FLT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 263051	NM_182925.5(FLT4):c.3537+21G>A	FLT4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2656152	NM_182925.5(FLT4):c.3532C>T (p.Leu1178=)	FLT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656153	NM_182925.5(FLT4):c.3525C>A (p.Gly1175=)	FLT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3035015	NM_182925.5(FLT4):c.3519C>G (p.Leu1173=)	FLT4	Single nucleotide variant (synonymous variant)	FLT4-related condition	GLikely benign
Select item 2509031	NM_182925.5(FLT4):c.3469A>C (p.Lys1157Gln)	FLT4 (K1157Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 702108	NM_182925.5(FLT4):c.3460G>A (p.Gly1154Arg)	FLT4 (G1154R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 263050	NM_182925.5(FLT4):c.3437G>A (p.Arg1146His)	FLT4 (R1146H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 994302	NM_182925.5(FLT4):c.3436C>G (p.Arg1146Gly)	FLT4 (R1146G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 932061	NM_182925.5(FLT4):c.3410C>T (p.Pro1137Leu)	FLT4 (P1137L)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I +1 more	GLikely pathogenic
Select item 1209909	NM_182925.5(FLT4):c.3391G>C (p.Gly1131Arg)	FLT4 (G1131R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 521648	NM_182925.5(FLT4):c.3391G>A (p.Gly1131Ser)	FLT4 (G1131S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 16262	NM_182925.5(FLT4):c.3341C>T (p.Pro1114Leu)	FLT4 (P1114L)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I	GPathogenic
Select item 2445224	NM_182925.5(FLT4):c.3332G>A (p.Gly1111Glu)	FLT4 (G1111E)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I	GPathogenic
Select item 1273729	NM_182925.5(FLT4):c.3331+328A>G	FLT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260711	NM_182925.5(FLT4):c.3331+150C>T	FLT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264373	NM_182925.5(FLT4):c.3331+67C>G	FLT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247834	NM_182925.5(FLT4):c.3331+60A>G	FLT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 16268	NM_182925.5(FLT4):c.3320TCT[1] (p.Phe1108del)	FLT4 (F1108del)	Microsatellite (inframe_deletion)	not provided	GPathogenic
Select item 16267	NM_182925.5(FLT4):c.3316G>A (p.Glu1106Lys)	FLT4 (E1106K)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I	GPathogenic
Select item 1334598	NM_182925.5(FLT4):c.3298T>C (p.Phe1100Leu)	FLT4 (F1100L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500428	NM_182925.5(FLT4):c.3289G>A (p.Val1097Met)	FLT4 (V1097M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309907	NM_182925.5(FLT4):c.3262G>A (p.Asp1088Asn)	FLT4 (D1088N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 706922	NM_182925.5(FLT4):c.3261C>T (p.Phe1087=)	FLT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 16266	NM_182925.5(FLT4):c.3257T>C (p.Ile1086Thr)	FLT4 (I1086T)	Single nucleotide variant (missense variant)	FLT4-related condition	GUncertain significance
Select item 930398	NM_182925.5(FLT4):c.3247C>T (p.Pro1083Ser)	FLT4 (P1083S)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I	GUncertain significance
Select item 1803467	NM_182925.5(FLT4):c.3242T>G (p.Met1081Arg)	FLT4 (M1081R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1691360	NM_182925.5(FLT4):c.3232C>G (p.Leu1078Val)	FLT4 (L1078V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 782101	NM_182925.5(FLT4):c.3220-35_3220-2del	FLT4	Deletion (splice acceptor variant)	not provided	GBenign
Select item 2441522	NM_182925.5(FLT4):c.3220-10G>A	FLT4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 263046	NM_182925.5(FLT4):c.3220-10G>T	FLT4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 263047	NM_182925.5(FLT4):c.3220-11T>C	FLT4	Single nucleotide variant (intron variant)	not specified	GLikely benign

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