Full data view for gene FLT4


This database is one of the "Vascular anomalies and lymphedema" gene variant databases.
Information The variants shown are described using the NM_182925.4 transcript reference sequence.

290 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.11G>C r.(?) p.(Gly4Ala) Unknown - likely benign g.180076535C>G - - - FLT4_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.33G>A r.(?) p.(Leu11=) Unknown - likely benign g.180076513C>T - FLT4(NM_182925.4):c.33G>A (p.L11=) - FLT4_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.76T>G r.(?) p.(Ser26Ala) Unknown - benign g.180058761A>C g.180631761A>C FLT4(NM_182925.4):c.76T>G (p.S26A), FLT4(NM_182925.5):c.76T>G (p.S26A, p.(Ser26Ala)) - FLT4_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.76T>G r.(?) p.(Ser26Ala) Unknown - benign g.180058761A>C g.180631761A>C FLT4(NM_182925.4):c.76T>G (p.S26A), FLT4(NM_182925.5):c.76T>G (p.S26A, p.(Ser26Ala)) - FLT4_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.76T>G r.(?) p.(Ser26Ala) Unknown - likely benign g.180058761A>C - FLT4(NM_182925.4):c.76T>G (p.S26A), FLT4(NM_182925.5):c.76T>G (p.S26A, p.(Ser26Ala)) - FLT4_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.89C>T r.(?) p.(Pro30Leu) Unknown - likely pathogenic g.180058748G>A g.180631748G>A FLT4(NM_182925.5):c.89C>T (p.P30L) - FLT4_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.226G>A r.(?) p.(Glu76Lys) Unknown - likely benign g.180057729C>T - FLT4(NM_182925.4):c.226G>A (p.(Glu76Lys)) - FLT4_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.241G>A r.(?) p.(Val81Met) Unknown - VUS g.180057714C>T - FLT4(NM_182925.4):c.241G>A (p.(Val81Met)) - FLT4_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.253G>C r.(?) p.(Glu85Gln) Unknown - VUS g.180057702C>G - FLT4(NM_182925.5):c.253G>C (p.(Glu85Gln)) - FLT4_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.313G>A r.(?) p.(Asp105Asn) Unknown - likely benign g.180057642C>T g.180630642C>T FLT4(NM_182925.4):c.313G>A (p.D105N) - FLT4_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.371C>T r.(?) p.(Thr124Met) Unknown - VUS g.180057584G>A - FLT4(NM_182925.5):c.371C>T (p.T124M) - FLT4_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.375C>T r.(?) p.(Ala125=) Unknown - likely benign g.180057580G>A - FLT4(NM_182925.4):c.375C>T (p.A125=) - FLT4_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.400+17G>A r.(=) p.(=) Unknown - benign g.180057538C>T g.180630538C>T FLT4(NM_182925.5):c.400+17G>A - FLT4_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.401-19G>C r.(=) p.(=) Unknown - benign g.180057356C>G g.180630356C>G FLT4(NM_182925.5):c.401-19G>C - FLT4_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.401-1G>C r.spl? p.? Unknown - pathogenic g.180057338C>G - FLT4(NM_182925.5):c.401-1G>C - FLT4_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.435G>A r.(?) p.(=) Unknown - likely benign g.180057303C>T - FLT4(NM_182925.5):c.435G>A (p.(Thr145=)) - FLT4_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.445A>G r.(?) p.(Asn149Asp) Unknown - benign g.180057293T>C g.180630293T>C FLT4(NM_182925.5):c.445A>G (p.N149D) - FLT4_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.489C>T r.(?) p.(Pro163=) Unknown - benign g.180057249G>A g.180630249G>A FLT4(NM_182925.5):c.489C>T (p.P163=) - FLT4_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.504G>A r.(?) p.(Thr168=) Unknown - likely benign g.180057234C>T g.180630234C>T FLT4(NM_182925.5):c.504G>A (p.T168=) - FLT4_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.507G>T r.(?) p.(Leu169=) Unknown - benign g.180057231C>A g.180630231C>A FLT4(NM_182925.5):c.507G>T (p.L169=) - FLT4_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.513+5G>A r.spl? p.? Unknown - VUS g.180057220C>T g.180630220C>T - - FLT4_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.563G>A r.(?) p.(Arg188Gln) Unknown - likely benign g.180057056C>T g.180630056C>T FLT4(NM_182925.4):c.563G>A (p.R188Q), FLT4(NM_182925.5):c.563G>A (p.R188Q) - FLT4_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.563G>A r.(?) p.(Arg188Gln) Unknown - likely benign g.180057056C>T - FLT4(NM_182925.4):c.563G>A (p.R188Q), FLT4(NM_182925.5):c.563G>A (p.R188Q) - FLT4_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.564G>A r.(?) p.(Arg188=) Unknown - likely benign g.180057055C>T g.180630055C>T - - FLT4_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.566G>A r.(?) p.(Arg189Gln) Unknown - likely benign g.180057053C>T g.180630053C>T - - FLT4_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.577G>C r.(?) p.(Val193Leu) Unknown - likely benign g.180057042C>G g.180630042C>G - - FLT4_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.618C>T r.(?) p.(Cys206=) Unknown - likely benign g.180057001G>A g.180630001G>A FLT4(NM_182925.4):c.618C>T (p.C206=) - FLT4_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.633A>G r.(?) p.(Gly211=) Unknown - benign g.180056986T>C g.180629986T>C FLT4(NM_182925.5):c.633A>G (p.G211=) - FLT4_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.676+18C>T r.(=) p.(=) Unknown - benign g.180056925G>A g.180629925G>A FLT4(NM_182925.5):c.676+18C>T - FLT4_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.677-28G>A r.(=) p.(=) Parent #1 - benign g.180056863C>T g.180629863C>T - - FLT4_000144 102 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56361806 Germline - 102/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 102 Mohammed Faruq
-/. - c.677-28G>A r.(=) p.(=) Both (homozygous) - benign g.180056863C>T g.180629863C>T - - FLT4_000144 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56361806 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.725T>A r.(?) p.(Leu242Gln) Unknown - VUS g.180056787A>T - FLT4(NM_182925.4):c.725T>A (p.L242Q) - FLT4_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.824G>A r.(?) p.(Arg275Gln) Unknown - VUS g.180056420C>T - FLT4(NM_182925.4):c.824G>A (p.(Arg275Gln)) - FLT4_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.952C>T r.(?) p.(Arg318*) Unknown - likely pathogenic g.180056292G>A - FLT4(NM_182925.5):c.952C>T (p.R318*) - FLT4_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.986-45C>T r.(=) p.(=) Unknown - benign g.180056044G>A - FLT4(NM_182925.5):c.986-45C>T - FLT4_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1038G>A r.(?) p.(Thr346=) Unknown - benign g.180055947C>T g.180628947C>T FLT4(NM_182925.4):c.1038G>A (p.T346=), FLT4(NM_182925.5):c.1038G>A (p.T346=) - FLT4_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1038G>A r.(?) p.(Thr346=) Unknown - likely benign g.180055947C>T - FLT4(NM_182925.4):c.1038G>A (p.T346=), FLT4(NM_182925.5):c.1038G>A (p.T346=) - FLT4_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1048G>A r.(?) p.(Glu350Lys) Unknown - likely benign g.180055937C>T - FLT4(NM_182925.4):c.1048G>A (p.(Glu350Lys)) - FLT4_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1049A>T r.(?) p.(Glu350Val) Unknown - benign g.180055936T>A g.180628936T>A FLT4(NM_182925.4):c.1049A>T (p.E350V) - FLT4_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1070A>T r.(?) p.(Lys357Met) Unknown - VUS g.180055915T>A g.180628915T>A - - FLT4_000191 - PubMed: Mansoorshahi 2024 - rs1167847494 Germline - - - - - DNA SEQ, SEQ-NG - WES CHD BAV917 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - 1 Johan den Dunnen
-?/. - c.1088C>T r.(?) p.(Pro363Leu) Unknown - likely benign g.180055897G>A g.180628897G>A - - FLT4_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1103+18C>T r.(=) p.(=) Unknown - benign g.180055864G>A g.180628864G>A FLT4(NM_182925.5):c.1103+18C>T - FLT4_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1103+20A>C r.(=) p.(=) Unknown - benign g.180055862T>G g.180628862T>G FLT4(NM_182925.5):c.1103+20A>C - FLT4_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1103+20A>G r.(=) p.(=) Unknown - benign g.180055862T>C g.180628862T>C FLT4(NM_182925.5):c.1103+20A>G - FLT4_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1104-42T>C r.(=) p.(=) Unknown - benign g.180053307A>G - FLT4(NM_182925.5):c.1104-42T>C - FLT4_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1133G>C r.(?) p.(Arg378Pro) Unknown - VUS g.180053236C>G - FLT4(NM_182925.4):c.1133G>C (p.(Arg378Pro)) - FLT4_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1174G>A r.(?) p.(Ala392Thr) Unknown - VUS g.180053195C>T - FLT4(NM_182925.4):c.1174G>A (p.(Ala392Thr)) - FLT4_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1179C>G r.(?) p.(Ser393Arg) Unknown - VUS g.180053190G>C - FLT4(NM_182925.5):c.1179C>G (p.(Ser393Arg)) - FLT4_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1258+14G>A r.(=) p.(=) Unknown - benign g.180053097C>T g.180626097C>T FLT4(NM_182925.5):c.1258+14G>A - FLT4_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1308G>A r.(?) p.(Ser436=) Unknown - likely benign g.180052982C>T g.180625982C>T - - FLT4_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1344C>T r.(?) p.(Tyr448=) Unknown - benign g.180052946G>A g.180625946G>A FLT4(NM_182925.5):c.1344C>T (p.Y448=, p.(Tyr448=)) - FLT4_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1344C>T r.(?) p.(Tyr448=) Unknown - likely benign g.180052946G>A - FLT4(NM_182925.5):c.1344C>T (p.Y448=, p.(Tyr448=)) - FLT4_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1381C>T r.(?) p.(Arg461Trp) Unknown - VUS g.180052909G>A - - - FLT4_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1421+19_1421+37del r.(=) p.(=) Unknown - benign g.180052837_180052855del g.180625837_180625855del FLT4(NM_182925.5):c.1421+19_1421+37delTCAGGTCCCCTGCACAGCC - FLT4_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1422-10G>A r.(=) p.(=) Unknown - likely benign g.180051071C>T - FLT4(NM_182925.5):c.1422-10G>A - FLT4_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1429C>T r.(?) p.(Arg477Trp) Unknown - VUS g.180051054G>A g.180624054G>A FLT4(NM_182925.5):c.1429C>T (p.R477W) - FLT4_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1459C>T r.(?) p.(Arg487Cys) Unknown - VUS g.180051024G>A - FLT4(NM_182925.4):c.1459C>T (p.(Arg487Cys)) - FLT4_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1480A>G r.(?) p.(Thr494Ala) Unknown - benign g.180051003T>C g.180624003T>C FLT4(NM_182925.5):c.1480A>G (p.T494A) - FLT4_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1481C>T r.(?) p.(Thr494Met) Unknown - likely benign g.180051002G>A g.180624002G>A FLT4(NM_182925.4):c.1481C>T (p.T494M, p.(Thr494Met)) - FLT4_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1481C>T r.(?) p.(Thr494Met) Unknown - likely benign g.180051002G>A - FLT4(NM_182925.4):c.1481C>T (p.T494M, p.(Thr494Met)) - FLT4_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1580A>G r.(?) p.(Asn527Ser) Unknown - benign g.180049808T>C g.180622808T>C FLT4(NM_182925.5):c.1580A>G (p.N527S) - FLT4_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1634G>A r.(?) p.(Arg545Gln) Unknown - VUS g.180049754C>T - FLT4(NM_182925.4):c.1634G>A (p.(Arg545Gln)) - FLT4_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1904C>G r.(?) p.(Thr635Arg) Unknown - VUS g.180048658G>C - FLT4(NM_182925.4):c.1904C>G (p.(Thr635Arg)) - FLT4_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1911C>G r.(?) p.(Ser637Arg) Unknown - benign g.180048651G>C - FLT4(NM_182925.5):c.1911C>G (p.S637R, p.(Ser637Arg)) - FLT4_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1911C>G r.(?) p.(Ser637Arg) Unknown - likely benign g.180048651G>C - FLT4(NM_182925.5):c.1911C>G (p.S637R, p.(Ser637Arg)) - FLT4_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1921C>T r.(?) p.(Pro641Ser) Unknown - likely benign g.180048641G>A g.180621641G>A FLT4(NM_182925.4):c.1921C>T (p.P641S, p.(Pro641Ser)), FLT4(NM_182925.5):c.1921C>T (p.P641S) - FLT4_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1921C>T r.(?) p.(Pro641Ser) Unknown - likely benign g.180048641G>A g.180621641G>A FLT4(NM_182925.4):c.1921C>T (p.P641S, p.(Pro641Ser)), FLT4(NM_182925.5):c.1921C>T (p.P641S) - FLT4_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1921C>T r.(?) p.(Pro641Ser) Unknown - benign g.180048641G>A g.180621641G>A FLT4(NM_182925.4):c.1921C>T (p.P641S, p.(Pro641Ser)), FLT4(NM_182925.5):c.1921C>T (p.P641S) - FLT4_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1921C>T r.(?) p.(Pro641Ser) Unknown - likely benign g.180048641G>A g.180621641G>A FLT4(NM_182925.4):c.1921C>T (p.P641S, p.(Pro641Ser)), FLT4(NM_182925.5):c.1921C>T (p.P641S) - FLT4_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1921C>T r.(?) p.(Pro641Ser) Unknown - likely benign g.180048641G>A - FLT4(NM_182925.4):c.1921C>T (p.P641S, p.(Pro641Ser)), FLT4(NM_182925.5):c.1921C>T (p.P641S) - FLT4_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 13 c.1985A>T r.(1985a>u) p.(Asp662Val) Unknown - VUS g.180048577T>A g.180621577T>A - - FLT4_000069 - - - - Unknown ? - - - - DNA SEQ-NG-I - - OHSS - - - - no - - - - - - 1 Katrien Stouffs
-/. - c.2008C>T r.(?) p.(Leu670=) Unknown - benign g.180048554G>A g.180621554G>A FLT4(NM_182925.5):c.2008C>T (p.L670=) - FLT4_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2059C>G r.(?) p.(Leu687Val) Unknown - benign g.180048214G>C - FLT4(NM_182925.5):c.2059C>G (p.L687V, p.(Leu687Val)) - FLT4_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2059C>G r.(?) p.(Leu687Val) Unknown - likely benign g.180048214G>C - FLT4(NM_182925.5):c.2059C>G (p.L687V, p.(Leu687Val)) - FLT4_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2091dup r.(?) p.(Gln698Alafs*74) Unknown - likely pathogenic g.180048182dup - - - FLT4_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2104G>T r.(?) p.(Ala702Ser) Unknown - likely benign g.180048169C>A - FLT4(NM_182925.4):c.2104G>T (p.(Ala702Ser)) - FLT4_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2112G>A r.(?) p.(Ala704=) Unknown - likely benign g.180048161C>T g.180621161C>T - - FLT4_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2168-49G>A r.(=) p.(=) Unknown - benign g.180048056C>T - FLT4(NM_182925.5):c.2168-49G>A - FLT4_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2180C>T r.(?) p.(Ala727Val) Unknown - likely benign g.180047995G>A - FLT4(NM_182925.4):c.2180C>T (p.(Ala727Val)) - FLT4_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2199G>A r.(?) p.(Leu733=) Unknown - benign g.180047976C>T - FLT4(NM_182925.5):c.2199G>A (p.L733=, p.(Leu733=)) - FLT4_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2199G>A r.(?) p.(Leu733=) Unknown - likely benign g.180047976C>T - FLT4(NM_182925.5):c.2199G>A (p.L733=, p.(Leu733=)) - FLT4_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2215C>A r.(?) p.(Arg739Ser) Unknown - VUS g.180047960G>T - FLT4(NM_182925.5):c.2215C>A (p.R739S) - FLT4_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2299+13G>C r.(=) p.(=) Unknown - benign g.180047863C>G g.180620863C>G FLT4(NM_182925.5):c.2299+13G>C - FLT4_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2299+13G>C r.(=) p.(=) Unknown - benign g.180047863C>G g.180620863C>G FLT4(NM_182925.5):c.2299+13G>C - FLT4_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2300-28_2300-25dup r.(=) p.(=) Unknown - benign g.180047754_180047757dup - FLT4(NM_182925.5):c.2300-28_2300-25dupACAC - FLT4_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2304C>G r.(?) p.(Ser768=) Unknown - likely benign g.180047711G>C g.180620711G>C FLT4(NM_182925.5):c.2304C>G (p.S768=) - FLT4_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2356G>A r.(?) p.(Ala786Thr) Unknown - VUS g.180047659C>T - FLT4(NM_182925.5):c.2356G>A (p.(Ala786Thr)) - FLT4_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2474A>G r.(?) p.(Glu825Gly) Unknown - VUS g.180047241T>C - FLT4(NM_182925.4):c.2474A>G (p.(Glu825Gly)) - FLT4_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17 c.2531G>C r.(?) p.(Arg844Pro) Parent #1 - pathogenic g.180047184C>G g.180620184C>G - - FLT4_000023 - PubMed: Connell 2009 - - Germline yes - - - - DNA SEQ - - LMPHM1 - PubMed: Connell 2009 - - no (United Kingdom (Great Britain)) - - - - - 2 Michel van Geel
+/. 17i c.2542+2del r.spl? p.? Maternal (confirmed) - pathogenic g.180047171del g.180620171del IVS17+2delT - FLT4_000021 invariant sequence of a splice donor site leading to premature termination PubMed: Futatani 2008 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - LMPHM1 - PubMed: Futatani 2008 - F no (Japan) Japan - - - - 1 Michel van Geel
-?/. - c.2543-14C>T r.(=) p.(=) Unknown - likely benign g.180046783G>A g.180619783G>A FLT4(NM_182925.5):c.2543-14C>T - FLT4_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2543G>A r.(?) p.(Gly848Glu) Unknown - VUS g.180046769C>T g.180619769C>T - - FLT4_000190 - PubMed: Mansoorshahi 2024 - rs368752216 Germline - - - - - DNA SEQ, SEQ-NG - WES CHD BAV975 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - 1 Johan den Dunnen
+/. 18 c.2554G>A r.(?) p.(Gly852Ser) Paternal (confirmed) - pathogenic g.180046758C>T g.180619758C>T - - FLT4_000024 - PubMed: Connell 2009 - - Germline yes - - - - DNA SEQ - - LMPHM1 - PubMed: Connell 2009 - - no (United Kingdom (Great Britain)) - - - - - 2 Michel van Geel
+/. 18 c.2554G>A r.(?) p.(Gly852Ser) Paternal (confirmed) - pathogenic g.180046758C>T g.180619758C>T - - FLT4_000024 - PubMed: Connell 2009 - - Germline yes - - - - DNA SEQ - - LMPHM1 - PubMed: Gordon 2012 Family history: son has congenital lymphoedema of the right foot. Her father had bilateral hydrocoeles. Paternal great-grandmother had bilateral lower limb lymphoedema. F no United Kingdom (Great Britain) white - - - - 4 Pia Ostergaard
+/. 18 c.2554G>A r.(?) p.(Gly852Ser) Unknown - pathogenic g.180046758C>T g.180619758C>T - - FLT4_000024 - PubMed: Connell 2009 - - Germline yes - - - - DNA SEQ - - LMPHM1 - PubMed: Gordon 2012 His son has the same phenotype. Distant cousin of Ped 2. M no United Kingdom (Great Britain) white - - - - 2 Pia Ostergaard
+/. 18 c.2554G>A r.(?) p.(Gly852Ser) Paternal (confirmed) - pathogenic g.180046758C>T g.180619758C>T - - FLT4_000024 - PubMed: Connell 2009 - - Germline yes - - - - DNA SEQ - - LMPHM1 - PubMed: Gordon 2012 Family history: his father is an asymptomatic carrier of VEGFR3 mutation. M no (United Kingdom (Great Britain)) white - - - - 1 Pia Ostergaard
+?/. - c.2554G>A r.(?) p.(Gly852Ser) Unknown - likely pathogenic g.180046758C>T g.180619758C>T FLT4(NM_182925.5):c.2554G>A (p.G852S) - FLT4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.2554G>C r.(?) p.(Gly852Arg) Parent #1 - pathogenic g.180046758C>G g.180619758C>G - - FLT4_000025 - PubMed: Connell 2009 - - Germline yes - - - - DNA SEQ - - LMPHM1 - PubMed: Connell 2009 - - no (United Kingdom (Great Britain)) - - - - - 2 Michel van Geel
+/. 18 c.2554G>C r.(?) p.(Gly852Arg) Maternal (confirmed) - pathogenic g.180046758C>G g.180619758C>G - - FLT4_000025 - PubMed: Connell 2009 - - Germline yes - - - - DNA SEQ - - LMPHM1 - PubMed: Gordon 2012 Family history: two sisters, mother and maternal grandmother affected. Son and nephew have hydrocoeles. M no United Kingdom (Great Britain) white - - - - 7 Pia Ostergaard
?/. - c.2554G>C r.(?) p.(Gly852Arg) Unknown - VUS g.180046758C>G g.180619758C>G - - FLT4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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