Full data view for gene EPHB4

Information The variants shown are described using the NM_004444.4 transcript reference sequence.

126 entries on 2 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.3G>A r.? p.? Unknown ACMG likely pathogenic g.100424650C>T g.100827028C>T - - EPHB4_000110 - - No - Germline ? - - - - DNA SEQ-NG blood - VMCM Pat10 Journal: Romano 2025 - - no Italy - - - - - 1 Ferruccio Romano
+/. - c.33del r.(?) p.(Leu12TrpfsTer10) Unknown - pathogenic g.100424620del g.100826998del 33delG - EPHB4_000031 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? CM-13-HO-II-6A PubMed: Amyere 2017 5-generation family, 7 affected/ (4F, 3M) - - - - - - - - 7 Audrey Debue
-/. - c.52+14C>G r.(=) p.(=) Unknown - benign g.100424587G>C g.100826965G>C EPHB4(NM_004444.5):c.52+14C>G, SLC12A9(NM_001363494.1):c.-64G>C - EPHB4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.52+14del r.(=) p.(=) Unknown - benign g.100424587del g.100826965del EPHB4(NM_004444.5):c.52+14delC, SLC12A9(NM_001363494.1):c.-64delG - EPHB4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.52+14_52+15del r.(=) p.(=) Unknown - benign g.100424587_100424588del g.100826965_100826966del EPHB4(NM_004444.5):c.52+14_52+15delCG, SLC12A9(NM_001363494.1):c.-64_-63delGC - EPHB4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.118G>A r.(?) p.(Gly40Arg) Unknown - VUS g.100421830C>T - EPHB4(NM_004444.5):c.118G>A (p.G40R) - EPHB4_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.123+3G>C r.123_411del p.Trp18Valfs*16 Unknown - pathogenic g.100421822C>G g.100824200C>G - - EPHB4_000042 - PubMed: Amyere 2017 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - ? CM-565-10 PubMed: Amyere 2017 family 3 affected/4 heterozygous carriers - - - - - - - - 4 Audrey Debue
+?/. - c.175G>A r.(?) p.(Glu59Lys) Unknown - likely pathogenic g.100421502C>T g.100823880C>T - - EPHB4_000041 - PubMed: Amyere 2017 691535 - Germline - - - - - DNA SEQ - - ? CM-415-10 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - 1 Audrey Debue
?/. - c.208G>A r.(?) p.(Ala70Thr) Unknown - VUS g.100421469C>T - EPHB4(NM_004444.5):c.208G>A (p.A70T) - EPHB4_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.221G>C r.(?) p.(Arg74Pro) Unknown - likely pathogenic g.100421456C>G g.100823834C>G - - EPHB4_000040 - PubMed: Amyere 2017 691548 - Germline yes - - - - DNA SEQ - - ? CM-184-10 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - 2 Audrey Debue
?/. - c.239G>A r.(?) p.(Arg80Gln) Unknown - VUS g.100421438C>T - EPHB4(NM_004444.4):c.239G>A (p.(Arg80Gln)) - EPHB4_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.267G>A r.(?) p.(Thr89=) Unknown - likely benign g.100421410C>T g.100823788C>T EPHB4(NM_004444.5):c.267G>A (p.T89=) - EPHB4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.286G>A r.(?) p.(Glu96Lys) Unknown - VUS g.100421391C>T g.100823769C>T EPHB4(NM_004444.4):c.286G>A (p.(Glu96Lys)) - EPHB4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.337G>A r.(?) p.(Val113Ile) Unknown - likely benign g.100421340C>T g.100823718C>T EPHB4(NM_004444.4):c.337G>A (p.V113I), EPHB4(NM_004444.5):c.337G>A (p.V113I) - EPHB4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.337G>A r.(?) p.(Val113Ile) Unknown - likely benign g.100421340C>T g.100823718C>T EPHB4(NM_004444.4):c.337G>A (p.V113I), EPHB4(NM_004444.5):c.337G>A (p.V113I) - EPHB4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.345_347del r.(?) p.(Tyr116del) Unknown - likely pathogenic g.100421333_100421335del g.100823711_100823713del 345_347delCTA - EPHB4_000043 - PubMed: Amyere 2017 - - Germline - - - - - DNA SEQ - - ? CM-302-10 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - 1 Audrey Debue
-?/. - c.360G>A r.(?) p.(Ala120=) Unknown - likely benign g.100421317C>T g.100823695C>T EPHB4(NM_004444.5):c.360G>A (p.A120=) - EPHB4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.389G>A r.(?) p.(Trp130Ter) Unknown - pathogenic g.100421288C>T g.100823666C>T - - EPHB4_000039 - PubMed: Amyere 2017 691531 - Germline yes - - - - DNA SEQ - - ? CM-177-10 PubMed: Amyere 2017 isolated case - - - - - - - - 1 Audrey Debue
?/. - c.399C>A r.(?) p.(Asn133Lys) Unknown - VUS g.100421278G>T - EPHB4(NM_004444.5):c.399C>A (p.N133K) - EPHB4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.412-9del r.(=) p.(=) Unknown - likely benign g.100420304del - EPHB4(NM_004444.5):c.412-9delC - EPHB4_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.412-1G>T r.spl p.? Unknown - pathogenic g.100420290C>A g.100822668C>A - - EPHB4_000038 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-219-10 PubMed: Amyere 2017 family 3 affected/4 heterozygous carriers - - - - - - - - 4 Audrey Debue
+/. - c.444_447dup r.(?) p.(Arg150GlufsTer74) Unknown - pathogenic g.100420255_100420258dup g.100822633_100822636dup 447_448insGAAG - EPHB4_000034 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-378-10 PubMed: Amyere 2017 family 2 affected/3 heterozygous carriers - - - - - - - - 3 Audrey Debue
-?/. - c.469G>A r.(?) p.(Gly157Arg) Unknown - likely benign g.100420232C>T - EPHB4(NM_004444.4):c.469G>A (p.(Gly157Arg)) - EPHB4_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.481_485delinsTT r.(?) p.(Val161_Lys162delinsLeu) Unknown - likely pathogenic g.100420216_100420220delinsAA g.100822594_100822598delinsAA 481_485delGTCAAinsTT - EPHB4_000032 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-348-10 PubMed: Amyere 2017 family, 1 case analysed - - - - - - - - 1 Audrey Debue
-/. - c.489G>A r.(?) p.(Thr163=) Unknown - benign g.100420212C>T - EPHB4(NM_004444.5):c.489G>A (p.T163=) - EPHB4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.494G>A r.(?) p.(Arg165His) Unknown - VUS g.100420207C>T - EPHB4(NM_004444.5):c.494G>A (p.R165H) - EPHB4_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.546T>C r.(?) p.(Gly182=) Unknown - benign g.100420155A>G g.100822533A>G EPHB4(NM_004444.5):c.546T>C (p.G182=) - EPHB4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.560T>C r.(?) p.(Leu187Pro) Unknown - likely pathogenic g.100420141A>G g.100822519A>G - - EPHB4_000037 - PubMed: Amyere 2017 691541 - Germline - - - - - DNA SEQ - - ? CM-115-100 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - 1 Audrey Debue
-?/. - c.623C>A r.(?) p.(Pro208Gln) Unknown - likely benign g.100420078G>T - EPHB4(NM_004444.5):c.623C>A (p.(Pro208Gln)) - EPHB4_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.632_633del r.(?) p.(Val211AlafsTer11) Unknown - pathogenic g.100420070_100420071del g.100822448_100822449del 632_633delTG - EPHB4_000033 - PubMed: Amyere 2017 590872 - Germline yes - - - - DNA SEQ - - ? CM-291-10 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - 2 Audrey Debue
-?/. - c.691C>T r.(?) p.(Pro231Ser) Unknown - likely benign g.100420010G>A g.100822388G>A EPHB4(NM_004444.5):c.691C>T (p.P231S) - EPHB4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.730C>T r.(?) p.(Gln244Ter) Unknown - pathogenic g.100419971G>A g.100822349G>A - - EPHB4_000036 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-568-10 PubMed: Amyere 2017 family 3 affected/3 heterozygous carriers - - - - - - - - 3 Audrey Debue
?/. - c.770C>T r.(?) p.(Pro257Leu) Unknown - VUS g.100419931G>A - EPHB4(NM_004444.5):c.770C>T (p.P257L) - EPHB4_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.794A>G r.(?) p.(Asn265Ser) Unknown - VUS g.100419907T>C - EPHB4(NM_004444.5):c.794A>G (p.(Asn265Ser)) - EPHB4_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.802T>C r.(?) p.(Cys268Arg) Unknown - likely pathogenic g.100419899A>G g.100822277A>G - - EPHB4_000035 - PubMed: Amyere 2017 590871 - Germline yes - - - - DNA SEQ - - ? CM-90-10 PubMed: Amyere 2017 5-generation family, 4 affected (F, 3M) - - - - - - - - 4 Audrey Debue
?/. - c.830A>G r.(?) p.(Lys277Arg) Unknown - VUS g.100417897T>C - - - EPHB4_000114 - - - rs1813192079 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.901G>A r.(?) p.(Val301Ile) Unknown - likely benign g.100417826C>T - EPHB4(NM_004444.4):c.901G>A (p.(Val301Ile)) - EPHB4_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.928C>T r.(?) p.(Arg310Trp) Unknown - VUS g.100417799G>A - EPHB4(NM_004444.4):c.928C>T (p.(Arg310Trp)) - EPHB4_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.981G>A r.(?) p.(Pro327=) Unknown - likely benign g.100417495C>T - EPHB4(NM_004444.5):c.981G>A (p.P327=) - EPHB4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1017G>T r.(?) p.(Leu339=) Unknown - likely benign g.100417459C>A - EPHB4(NM_004444.5):c.1017G>T (p.L339=) - EPHB4_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1054C>T r.(?) p.(Arg352Ter) Unknown - pathogenic g.100417422G>A g.100819800G>A - - EPHB4_000044 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-455-10 PubMed: Amyere 2017 2-generation family, affected father/daughter - - - - - - - - 2 Audrey Debue
+/. - c.1054C>T r.(?) p.(Arg352Ter) Unknown - pathogenic g.100417422G>A g.100819800G>A - - EPHB4_000044 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-558-10 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - 2 Audrey Debue
-?/. - c.1067C>G r.(?) p.(Thr356Ser) Unknown - likely benign g.100417409G>C g.100819787G>C EPHB4(NM_004444.5):c.1067C>G (p.T356S) - EPHB4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1067C>G r.(?) p.(Thr356Ser) Unknown - likely benign g.100417409G>C g.100819787G>C EPHB4(NM_004444.5):c.1067C>G (p.T356S) - EPHB4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1077_1081del r.(?) p.(Arg360ProfsTer19) Unknown - pathogenic g.100417397_100417401del g.100819775_100819779del 1077_1081delCCGCT - EPHB4_000045 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-546-2 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - 2 Audrey Debue
-?/. - c.1079G>A r.(?) p.(Arg360His) Unknown - likely benign g.100417397C>T - EPHB4(NM_004444.4):c.1079G>A (p.(Arg360His)) - EPHB4_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1099G>A r.(?) p.(Gly367Arg) Unknown - likely benign g.100417377C>T - EPHB4(NM_004444.4):c.1099G>A (p.(Gly367Arg)) - EPHB4_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1123G>T r.(?) p.(Gly375Ter) Unknown - pathogenic g.100417353C>A g.100819731C>A - - EPHB4_000046 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-337-106 PubMed: Amyere 2017 3-generation family, 8 affected (4F, 4M) - - - - - - - - 8 Audrey Debue
+/. - c.1177del r.(?) p.(Val393PhefsTer17) Unknown - pathogenic g.100417300del g.100819678del 1177_1177delG - EPHB4_000047 - PubMed: Amyere 2017 - - Germline - - - - - DNA SEQ - - ? CM-345-10 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - 1 Audrey Debue
?/. - c.1195G>A r.(?) p.(Asp399Asn) Unknown - VUS g.100417281C>T - EPHB4(NM_004444.5):c.1195G>A (p.D399N) - EPHB4_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1291C>T r.(?) p.(Arg431Ter) Unknown - pathogenic g.100417185G>A g.100819563G>A - - EPHB4_000048 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-391-100 PubMed: Amyere 2017 family 3 affected/3 heterozygous carriers - - - - - - - - 3 Audrey Debue
-/. - c.1314T>C r.(?) p.(Ser438=) Unknown - benign g.100416250A>G g.100818628A>G EPHB4(NM_004444.5):c.1314T>C (p.S438=) - EPHB4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1384G>A r.(?) p.(Gly462Arg) Unknown - likely benign g.100416180C>T - EPHB4(NM_004444.5):c.1384G>A (p.G462R) - EPHB4_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1406T>G r.(?) p.(Val469Gly) Unknown - likely pathogenic g.100416158A>C g.100818536A>C - - EPHB4_000049 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-377-10 PubMed: Amyere 2017 family 4 affected/4 heterozygous carriers - - - - - - - - 4 Audrey Debue
-/. - c.1422+3A>G r.spl? p.? Unknown - benign g.100416139T>C g.100818517T>C EPHB4(NM_004444.5):c.1422+3A>G - EPHB4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1423-15A>G r.(=) p.(=) Unknown - benign g.100414994T>C - EPHB4(NM_004444.5):c.1423-15A>G - EPHB4_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1423-6G>A r.1422 1423insacag p.Gly475Thrfs*39 Unknown - pathogenic g.100414985C>T g.100817363C>T - - EPHB4_000050 - PubMed: Amyere 2017 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - ? CM-120-10 PubMed: Amyere 2017 family 3 affected/4 heterozygous carriers - - - - - - - - 4 Audrey Debue
?/. - c.1429G>A r.(?) p.(Glu477Lys) Unknown - VUS g.100414973C>T - EPHB4(NM_004444.5):c.1429G>A (p.E477K) - EPHB4_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1528C>A r.(?) p.(Arg510Ser) Unknown - VUS g.100414874G>T g.100817252G>T EPHB4(NM_004444.4):c.1528C>A (p.R510S) - EPHB4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1546G>A r.(?) p.(Gly516Arg) Unknown - likely pathogenic g.100414856C>T g.100817234C>T - - EPHB4_000051 - PubMed: Amyere 2017 - - Germline - - - - - DNA SEQ - - ? CM-147-100 PubMed: Amyere 2017 family 1 affected/2 heterozygous carriers - - - - - - - - 2 Audrey Debue
+?/. - c.1546G>A r.(?) p.(Gly516Arg) Unknown - likely pathogenic g.100414856C>T g.100817234C>T - - EPHB4_000051 - PubMed: Amyere 2017 - - Germline - - - - - DNA SEQ - - ? CM-162-100 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - 1 Audrey Debue
+?/. - c.1546G>A r.(?) p.(Gly516Arg) Unknown - likely pathogenic g.100414856C>T g.100817234C>T - - EPHB4_000051 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-538-10 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - 2 Audrey Debue
?/. - c.1546G>A r.(?) p.(Gly516Arg) Unknown - VUS g.100414856C>T - EPHB4(NM_004444.5):c.1546G>A (p.G516R) - EPHB4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1558C>T r.(?) p.(Gln520Ter) Unknown - pathogenic g.100414844G>A g.100817222G>A - - EPHB4_000052 - PubMed: Amyere 2017 - - Germline - - - - - DNA SEQ - - ? CM-487-10 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - 1 Audrey Debue
+/. - c.1558C>T r.(?) p.(Gln520Ter) Unknown - pathogenic g.100414844G>A g.100817222G>A - - EPHB4_000052 - PubMed: Amyere 2017 - - Germline - - - - - DNA SEQ - - ? CM-544-10 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - 1 Audrey Debue
+?/. - c.1588+5G>C r.spl p.? Unknown - likely pathogenic g.100414809C>G g.100817187C>G - - EPHB4_000053 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-470-10 PubMed: Amyere 2017 family, 1 case analysed - - - - - - - - 1 Audrey Debue
?/. - c.1603C>T r.(?) p.(Arg535Trp) Unknown - VUS g.100411629G>A - EPHB4(NM_004444.5):c.1603C>T (p.R535W) - EPHB4_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1615del r.(?) p.(Ala539ProfsTer2) Unknown - pathogenic g.100411618del g.100813996del 1615delG - EPHB4_000054 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-323-10 PubMed: Amyere 2017 family 3 affected/3 heterozygous carriers - - - - - - - - 3 Audrey Debue
-?/. - c.1692-6C>A r.(=) p.(=) Unknown - likely benign g.100411344G>T - EPHB4(NM_004444.5):c.1692-6C>A - EPHB4_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1692-1G>A r.spl p.? Unknown - likely pathogenic g.100411339C>T g.100813717C>T - - EPHB4_000055 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-131-101 PubMed: Amyere 2017 family, 1 case analysed - - - - - - - - 1 Audrey Debue
+/. - c.1733dup r.(?) p.(His578GlnfsTer11) Unknown - pathogenic g.100411297dup g.100813675dup 1733_1734insA (G579Rfs*10) - EPHB4_000056 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-401-10 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - 2 Audrey Debue
?/. - c.1736G>T r.(?) p.(Gly579Val) Unknown - VUS g.100411294C>A - EPHB4(NM_004444.5):c.1736G>T (p.G579V) - EPHB4_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1743T>C r.(?) p.(Tyr581=) Unknown - benign g.100411287A>G - EPHB4(NM_004444.5):c.1743T>C (p.Y581=) - EPHB4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1749C>T r.(?) p.(Ile583=) Unknown - likely benign g.100411281G>A g.100813659G>A EPHB4(NM_004444.5):c.1749C>T (p.I583=) - EPHB4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1752A>G r.(?) p.(Gly584=) Unknown - benign g.100411278T>C g.100813656T>C EPHB4(NM_004444.5):c.1752A>G (p.G584=) - EPHB4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1788T>G r.(?) p.(Tyr596Ter) Unknown - pathogenic g.100410799A>C g.100813177A>C - - EPHB4_000057 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-224-11 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - 2 Audrey Debue
+?/. - c.1870+2T>C r.spl p.? Unknown - likely pathogenic g.100410715A>G g.100813093A>G - - EPHB4_000058 - PubMed: Amyere 2017 - - Germline - - - - - DNA SEQ - - ? CM-239-10 PubMed: Amyere 2017 family 1 affected/2 heterozygous carriers - - - - - - - - 2 Audrey Debue
?/. - c.1870+7G>A r.(=) p.(=) Unknown - VUS g.100410710C>T - EPHB4(NM_004444.5):c.1870+7G>A - EPHB4_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1890C>T r.(?) p.(Cys630=) Unknown - benign g.100410597G>A g.100812975G>A EPHB4(NM_004444.5):c.1890C>T (p.C630=) - EPHB4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1951G>C r.(?) p.(Gly651Arg) Unknown - VUS g.100410536C>G - EPHB4(NM_004444.5):c.1951G>C (p.(Gly651Arg)) - EPHB4_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1961C>T r.(?) p.(Thr654Met) Unknown - likely benign g.100410526G>A - EPHB4(NM_004444.5):c.1961C>T (p.T654M) - EPHB4_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1966C>T r.(?) p.(Arg656Trp) Unknown - likely pathogenic g.100410521G>A g.100812899G>A - - EPHB4_000059 - PubMed: Amyere 2017 - - Germline - - - - - DNA SEQ - - ? CM-298-10 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - 1 Audrey Debue
+?/. - c.1990G>A r.(?) p.(Glu664Lys) Unknown - likely pathogenic g.100410497C>T g.100812875C>T - - EPHB4_000060 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-397-10 PubMed: Amyere 2017 family 3 affected/4 heterozygous carriers - - - - - - - - 4 Audrey Debue
?/. - c.2009A>C r.(?) p.(Gln670Pro) Unknown - VUS g.100410478T>G - EPHB4(NM_004444.5):c.2009A>C (p.(Gln670Pro)) - EPHB4_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2013C>G r.(?) p.(Phe671Leu) Unknown - VUS g.100410474G>C - EPHB4(NM_004444.5):c.2013C>G (p.F671L) - EPHB4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2037_2038insT r.(?) p.(Glu680Ter) Unknown - pathogenic g.100410449_100410450insA g.100812827_100812828insA - - EPHB4_000061 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-105-11 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - 2 Audrey Debue
?/. - c.2069T>C r.(?) p.(Met690Thr) Unknown - VUS g.100410418A>G - EPHB4(NM_004444.5):c.2069T>C (p.M690T) - EPHB4_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2172_2183dup r.(?) p.(Ile724_Gly727dup) Unknown - VUS g.100405144_100405155dup - EPHB4(NM_004444.5):c.2172_2183dupCGCCTCGGGCAT (p.I724_G727dup) - EPHB4_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2173G>A r.(?) p.(Ala725Thr) Unknown - likely pathogenic g.100405148C>T g.100807526C>T - - EPHB4_000062 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-340-10 PubMed: Amyere 2017 family, 1 case analysed - - - - - - - - 1 Audrey Debue
?/. - c.2210T>G r.(?) p.(Val737Gly) Unknown - VUS g.100405111A>C - EPHB4(NM_004444.5):c.2210T>G (p.V737G) - EPHB4_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2215C>T r.(?) p.(Arg739Ter) Unknown - pathogenic g.100405106G>A g.100807484G>A - - EPHB4_000063 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-459-10-1 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - 2 Audrey Debue
+/. - c.2215C>T r.(?) p.(Arg739Ter) Unknown - pathogenic g.100405106G>A g.100807484G>A - - EPHB4_000063 - PubMed: Amyere 2017 - - Germline - - - - - DNA SEQ - - ? CM-74-II-1 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - 1 Audrey Debue
+/. 13 c.2216G>A r.(?) p.(Arg739Gln) Unknown - pathogenic g.100405105C>T g.100807483C>T - - EPHB4_000001 - PubMed: Martin-Almedina 2016 - - Unknown yes - - - - DNA SEQ-NG-I - - ? - PubMed: Martin-Almedina 2016 - M no United Kingdom (Great Britain) - - - - - 1 Pia Ostergaard
+?/. - c.2221C>G r.(?) p.(Leu741Val) Unknown - likely pathogenic g.100405100G>C - EPHB4(NM_004444.4):c.2221C>G (p.(Leu741Val)) - EPHB4_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2231G>A r.(?) p.(Arg744His) Unknown ACMG VUS g.100405090C>T g.100807468C>T - - EPHB4_000109 - Journal: Romano 2025 No - Germline - - - - - DNA SEQ-NG blood - VMCM Pat3 Journal: Romano 2025 - - no Italy - - - - - 1 Ferruccio Romano
+?/. - c.2233A>G r.(?) p.(Asn745Asp) Unknown - likely pathogenic g.100405088T>C g.100807466T>C - - EPHB4_000064 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-297-2 PubMed: Amyere 2017 family, 1 case analysed - - - - - - - - 1 Audrey Debue
+?/. - c.2233A>G r.(?) p.(Asn745Asp) Unknown - likely pathogenic g.100405088T>C g.100807466T>C - - EPHB4_000064 - PubMed: Amyere 2017 - - Germline yes - - - - DNA SEQ - - ? CM-433-11 PubMed: Amyere 2017 family 4 affected/4 heterozygous carriers - - - - - - - - 4 Audrey Debue
+/. 14 c.2345T>G r.(?) p.(Ile782Ser) Unknown - pathogenic g.100404181A>C g.100806559A>C - - EPHB4_000002 - PubMed: Martin-Almedina 2016 - - De novo yes - - - - DNA SEQ-NG-S - - ? - PubMed: Martin-Almedina 2016 - F no Norway - - - - - 1 Pia Ostergaard
+/. - c.2353C>T r.(?) p.(Arg785*) Unknown - pathogenic g.100404173G>A - - - EPHB4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2354G>A r.(?) p.(Arg785Gln) Unknown - pathogenic (dominant) g.100404172C>T g.100806550C>T - - EPHB4_000023 - - - - De novo - - - - - DNA SEQ-NG - - LMPHM 8 - - M - China - - - - - 1 Sha Hong
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