Full data view for gene ENG

Information The variants shown are described using the NM_000118.3 transcript reference sequence.

222 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     
-/. 1 c.-35A>G r.(=) p.(=) Parent #1 - benign g.130616669T>C g.127854390T>C - - ENG_000009 - - - - Germline - - - - - DNA SEQ - - HHT - - - - - Germany - - - - - 1 Andreas Laner
-/. 1 c.-35A>G r.(?) p.(=) Unknown - benign g.130616669T>C g.127854390T>C - - ENG_000009 - - - - Germline - - - - - DNA SEQ - - HHT - - - - - Germany - - - - - 1 Andreas Laner
+/. - c.-10C>T r.(?) p.(=) Unknown - pathogenic g.130616644G>A g.127854365G>A ENG(NM_000118.3):c.-10C>T - ENG_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-9G>A r.(?) p.(=) Unknown - likely benign g.130616643C>T g.127854364C>T ENG(NM_000118.3):c.-9G>A, ENG(NM_000118.4):c.-9G>A, ENG(NM_001114753.3):c.-9G>A - ENG_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-9G>A r.(?) p.(=) Unknown - likely benign g.130616643C>T g.127854364C>T ENG(NM_000118.3):c.-9G>A, ENG(NM_000118.4):c.-9G>A, ENG(NM_001114753.3):c.-9G>A - ENG_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-9G>A r.(?) p.(=) Unknown - VUS g.130616643C>T - ENG(NM_000118.3):c.-9G>A, ENG(NM_000118.4):c.-9G>A, ENG(NM_001114753.3):c.-9G>A - ENG_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1A>G r.(?) p.(Met1?) Unknown - pathogenic g.130616634T>C g.127854355T>C ENG(NM_000118.3):c.1A>G (p.M1?) - ENG_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2T>C r.(?) p.(Met1?) Unknown - pathogenic g.130616633A>G - ENG(NM_000118.3):c.2T>C (p.M1?) - ENG_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2T>G r.(?) p.(Met1?) Unknown - pathogenic g.130616633A>C g.127854354A>C ENG(NM_000118.3):c.2T>G (p.M1?) - ENG_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7C>T r.(?) p.(Arg3Cys) Unknown - likely benign g.130616628G>A g.127854349G>A ENG(NM_000118.3):c.7C>T (p.R3C) - ENG_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.14C>A r.(?) p.(Thr5Lys) Unknown - VUS g.130616621G>T g.127854342G>T ENG(NM_000118.3):c.14C>A (p.T5K) - ENG_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.14C>T r.(?) p.(Thr5Met) Unknown - benign g.130616621G>A g.127854342G>A ENG(NM_000118.2):c.14C>T (p.(Thr5Met)), ENG(NM_000118.3):c.14C>T (p.T5M), ENG(NM_000118.4):c.14C>T (p.T5M), ENG(NM_001114753.2):c.14C>T (p.T5M) - ENG_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.14C>T r.(?) p.(Thr5Met) Unknown - benign g.130616621G>A g.127854342G>A ENG(NM_000118.2):c.14C>T (p.(Thr5Met)), ENG(NM_000118.3):c.14C>T (p.T5M), ENG(NM_000118.4):c.14C>T (p.T5M), ENG(NM_001114753.2):c.14C>T (p.T5M) - ENG_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.14C>T r.(?) p.(Thr5Met) Unknown - benign g.130616621G>A g.127854342G>A ENG(NM_000118.2):c.14C>T (p.(Thr5Met)), ENG(NM_000118.3):c.14C>T (p.T5M), ENG(NM_000118.4):c.14C>T (p.T5M), ENG(NM_001114753.2):c.14C>T (p.T5M) - ENG_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.14C>T r.(?) p.(Thr5Met) Unknown - benign g.130616621G>A g.127854342G>A ENG(NM_000118.2):c.14C>T (p.(Thr5Met)), ENG(NM_000118.3):c.14C>T (p.T5M), ENG(NM_000118.4):c.14C>T (p.T5M), ENG(NM_001114753.2):c.14C>T (p.T5M) - ENG_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.14C>T r.(?) p.(Thr5Met) Unknown - likely benign g.130616621G>A g.127854342G>A ENG(NM_000118.2):c.14C>T (p.(Thr5Met)), ENG(NM_000118.3):c.14C>T (p.T5M), ENG(NM_000118.4):c.14C>T (p.T5M), ENG(NM_001114753.2):c.14C>T (p.T5M) - ENG_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.48C>G r.(?) p.(Ser16Arg) Unknown - likely benign g.130616587G>C - ENG(NM_000118.3):c.48C>G (p.S16R) - ENG_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.67+1G>A r.spl? p.? Unknown - pathogenic g.130616567C>T g.127854288C>T ENG(NM_000118.3):c.67+1G>A - ENG_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.67+1G>A r.spl? p.? Unknown - pathogenic g.130616567C>T - ENG(NM_000118.3):c.67+1G>A - ENG_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.67+1G>A r.spl? p.? Unknown - pathogenic g.130616567C>T - ENG(NM_000118.3):c.67+1G>A - ENG_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.67+3A>G r.spl? p.? Unknown - pathogenic g.130616565T>C g.127854286T>C ENG(NM_000118.3):c.67+3A>G - ENG_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.67+5G>A r.spl? p.? Unknown - pathogenic g.130616563C>T g.127854284C>T ENG(NM_000118.3):c.67+5G>A - ENG_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68-18C>T r.(=) p.(=) Unknown - likely benign g.130605542G>A - ENG(NM_000118.3):c.68-18C>T - ENG_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68-9C>G r.(=) p.(=) Unknown - likely benign g.130605533G>C g.127843254G>C ENG(NM_001114753.2):c.68-9C>G - ENG_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.68-3C>G r.spl? p.? Unknown - VUS g.130605527G>C g.127843248G>C ENG(NM_000118.3):c.68-3C>G - ENG_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.116G>A r.(?) p.(Arg39Lys) Unknown - likely benign g.130605476C>T g.127843197C>T ENG(NM_000118.3):c.116G>A (p.R39K) - ENG_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.120C>T r.(?) p.(Gly40=) Unknown - likely benign g.130605472G>A g.127843193G>A ENG(NM_000118.2):c.120C>T (p.(Gly40=)), ENG(NM_000118.3):c.120C>T (p.G40=), ENG(NM_000118.4):c.120C>T (p.G40=), ENG(NM_001114753.2):c.120C>T (p.G40=) - ENG_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.120C>T r.(?) p.(Gly40=) Unknown - likely benign g.130605472G>A g.127843193G>A ENG(NM_000118.2):c.120C>T (p.(Gly40=)), ENG(NM_000118.3):c.120C>T (p.G40=), ENG(NM_000118.4):c.120C>T (p.G40=), ENG(NM_001114753.2):c.120C>T (p.G40=) - ENG_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.120C>T r.(?) p.(Gly40=) Unknown - benign g.130605472G>A g.127843193G>A ENG(NM_000118.2):c.120C>T (p.(Gly40=)), ENG(NM_000118.3):c.120C>T (p.G40=), ENG(NM_000118.4):c.120C>T (p.G40=), ENG(NM_001114753.2):c.120C>T (p.G40=) - ENG_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.120C>T r.(?) p.(Gly40=) Unknown - likely benign g.130605472G>A g.127843193G>A ENG(NM_000118.2):c.120C>T (p.(Gly40=)), ENG(NM_000118.3):c.120C>T (p.G40=), ENG(NM_000118.4):c.120C>T (p.G40=), ENG(NM_001114753.2):c.120C>T (p.G40=) - ENG_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.120C>T r.(?) p.(Gly40=) Unknown - likely benign g.130605472G>A - ENG(NM_000118.2):c.120C>T (p.(Gly40=)), ENG(NM_000118.3):c.120C>T (p.G40=), ENG(NM_000118.4):c.120C>T (p.G40=), ENG(NM_001114753.2):c.120C>T (p.G40=) - ENG_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.120C>T r.(?) p.(Gly40=) Unknown - benign g.130605472G>A - ENG(NM_000118.2):c.120C>T (p.(Gly40=)), ENG(NM_000118.3):c.120C>T (p.G40=), ENG(NM_000118.4):c.120C>T (p.G40=), ENG(NM_001114753.2):c.120C>T (p.G40=) - ENG_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.142C>T r.(?) p.(Gln48Ter) Unknown - pathogenic g.130605450G>A g.127843171G>A ENG(NM_000118.3):c.142C>T (p.Q48*) - ENG_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.154G>C r.(?) p.(Gly52Arg) Unknown - pathogenic g.130605438C>G g.127843159C>G ENG(NM_000118.3):c.154G>C (p.G52R) - ENG_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.159C>A r.(?) p.(Cys53Ter) Unknown - pathogenic g.130605433G>T g.127843154G>T ENG(NM_000118.3):c.159C>A (p.C53*) - ENG_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.159C>T r.(?) p.(Cys53=) Unknown - benign g.130605433G>A g.127843154G>A ENG(NM_000118.3):c.159C>T (p.C53=) - ENG_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.179C>A r.(?) p.(Ala60Asp) Unknown - likely benign g.130605413G>T g.127843134G>T ENG(NM_000118.2):c.179C>A (p.(Ala60Asp)) - ENG_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.179C>T r.(?) p.(Ala60Val) Unknown - VUS g.130605413G>A - ENG(NM_000118.4):c.179C>T (p.A60V) - ENG_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.207G>A r.(?) p.(Leu69=) Unknown - benign g.130605385C>T g.127843106C>T ENG(NM_000118.3):c.207G>A (p.L69=) - ENG_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.219G>A r.(?) p.(Thr73=) Unknown - pathogenic g.130605373C>T - ENG(NM_001278138.2):c.-328G>A - ENG_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.219+22C>T r.(=) p.(=) Unknown - likely benign g.130605351G>A - ENG(NM_000118.4):c.219+22C>T - ENG_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.220-2A>G r.spl? p.? Unknown - pathogenic g.130592108T>C g.127829829T>C ENG(NM_000118.3):c.220-2A>G - ENG_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.224C>T r.(?) p.(Pro75Leu) Unknown - likely benign g.130592102G>A - ENG(NM_001114753.2):c.224C>T (p.(Pro75Leu)) - ENG_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.225G>A r.(?) p.(Pro75=) Unknown - likely benign g.130592101C>T g.127829822C>T ENG(NM_000118.3):c.225G>A (p.P75=) - ENG_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.229C>T r.(?) p.(Gln77Ter) Unknown - pathogenic g.130592097G>A g.127829818G>A ENG(NM_000118.3):c.229C>T (p.Q77*) - ENG_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.234G>A r.(?) p.(Leu78=) Unknown - likely benign g.130592092C>T g.127829813C>T ENG(NM_000118.3):c.234G>A (p.L78=) - ENG_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.247C>T r.(?) p.(Gln83Ter) Unknown - pathogenic g.130592079G>A g.127829800G>A ENG(NM_000118.3):c.247C>T (p.Q83*) - ENG_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.247C>T r.(?) p.(Gln83Ter) Unknown - pathogenic g.130592079G>A g.127829800G>A ENG(NM_000118.3):c.247C>T (p.Q83*) - ENG_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.277C>T r.(?) p.(Arg93Ter) Unknown - pathogenic g.130592049G>A g.127829770G>A ENG(NM_000118.3):c.277C>T (p.R93*) - ENG_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.296T>A r.(?) p.(Leu99His) Paternal (confirmed) ACMG likely pathogenic (dominant) g.130592030A>T g.127829751A>T - - ENG_000148 ACMG PM1, PM2, PP1, PP2, PP3, PP4 PubMed: Marinakis 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? 9062 PubMed: Marinakis 2021 2-generation family, patient and similarly affected father F - Greece - - - - - 2 Jan Traeger-Synodinos
?/. - c.302T>A r.(?) p.(Val101Glu) Unknown - VUS g.130592024A>T g.127829745A>T ENG(NM_000118.3):c.302T>A (p.V101E) - ENG_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.321G>T r.(?) p.(Leu107=) Unknown - likely benign g.130592005C>A - ENG(NM_000118.3):c.321G>T (p.L107=) - ENG_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.322C>T r.(?) p.(His108Tyr) Unknown - likely benign g.130592004G>A g.127829725G>A ENG(NM_000118.3):c.322C>T (p.H108Y), ENG(NM_001114753.2):c.322C>T (p.(His108Tyr)) - ENG_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.322C>T r.(?) p.(His108Tyr) Unknown - likely benign g.130592004G>A - ENG(NM_000118.3):c.322C>T (p.H108Y), ENG(NM_001114753.2):c.322C>T (p.(His108Tyr)) - ENG_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.322C>T r.(?) p.(His108Tyr) Unknown - likely benign g.130592004G>A - ENG(NM_000118.3):c.322C>T (p.H108Y), ENG(NM_001114753.2):c.322C>T (p.(His108Tyr)) - ENG_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.328C>T r.(?) p.(Gln110Ter) Unknown - pathogenic g.130591998G>A g.127829719G>A ENG(NM_000118.3):c.328C>T (p.Q110*) - ENG_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.360C>A r.(?) p.(Tyr120Ter) Unknown - pathogenic g.130591966G>T g.127829687G>T ENG(NM_000118.3):c.360C>A (p.Y120*) - ENG_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.360+1G>A r.spl? p.? Unknown - pathogenic g.130591965C>T g.127829686C>T ENG(NM_000118.3):c.360+1G>A - ENG_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.360+2T>C r.spl? p.? Unknown - pathogenic g.130591964A>G g.127829685A>G ENG(NM_000118.3):c.360+2T>C - ENG_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.360+5G>A r.spl? p.? Unknown - pathogenic g.130591961C>T g.127829682C>T ENG(NM_000118.3):c.360+5G>A - ENG_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.360+5G>T r.spl? p.? Unknown - VUS g.130591961C>A g.127829682C>A ENG(NM_000118.3):c.360+5G>T - ENG_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.361-2A>G r.spl? p.? Unknown - pathogenic g.130588953T>C g.127826674T>C ENG(NM_000118.3):c.361-2A>G - ENG_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.388C>T r.(?) p.(Pro130Ser) Unknown - likely benign g.130588924G>A g.127826645G>A ENG(NM_000118.3):c.388C>T (p.P130S) - ENG_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.392C>T r.(?) p.(Pro131Leu) Unknown - likely benign g.130588920G>A g.127826641G>A ENG(NM_000118.3):c.392C>T (p.P131L) - ENG_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.392C>T r.(?) p.(Pro131Leu) Unknown - benign g.130588920G>A g.127826641G>A ENG(NM_000118.3):c.392C>T (p.P131L) - ENG_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.393G>C r.(?) p.(Pro131=) Unknown - likely benign g.130588919C>G - ENG(NM_000118.4):c.393G>C (p.P131=) - ENG_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.412C>T r.(?) p.(Leu138=) Unknown - likely benign g.130588900G>A g.127826621G>A ENG(NM_000118.3):c.412C>T (p.L138=) - ENG_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.475G>C r.(?) p.(Ala159Pro) Unknown - VUS g.130588837C>G g.127826558C>G ENG(NM_000118.3):c.475G>C (p.A159P) - ENG_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.503T>A r.(?) p.(Ile168Asn) Unknown - VUS g.130588809A>T g.127826530A>T ENG(NM_000118.3):c.503T>A (p.I168N) - ENG_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.503T>C r.(?) p.(Ile168Thr) Unknown - pathogenic g.130588809A>G g.127826530A>G ENG(NM_000118.3):c.503T>C (p.I168T) - ENG_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.511C>T r.(?) p.(Arg171Ter) Unknown - pathogenic g.130588801G>A g.127826522G>A ENG(NM_000118.3):c.511C>T (p.R171*) - ENG_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.512G>C r.(?) p.(Arg171Pro) Unknown - pathogenic g.130588800C>G g.127826521C>G ENG(NM_000118.3):c.512G>C (p.R171P) - ENG_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.523+1G>T r.spl? p.? Unknown - pathogenic g.130588788C>A g.127826509C>A ENG(NM_000118.3):c.523+1G>T - ENG_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.524-15C>T r.(=) p.(=) Unknown - benign g.130588154G>A g.127825875G>A ENG(NM_000118.3):c.524-15C>T - ENG_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.526C>T r.(?) p.(Gln176Ter) Unknown - pathogenic g.130588137G>A g.127825858G>A ENG(NM_000118.3):c.526C>T (p.Q176*) - ENG_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.533C>G r.(?) p.(Ser178Ter) Unknown - pathogenic g.130588130G>C g.127825851G>C ENG(NM_000118.3):c.533C>G (p.S178*) - ENG_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.553G>T r.(?) p.(Glu185Ter) Unknown - pathogenic g.130588110C>A g.127825831C>A ENG(NM_000118.3):c.553G>T (p.E185*) - ENG_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.562C>T r.(?) p.(Gln188Ter) Unknown - pathogenic g.130588101G>A g.127825822G>A ENG(NM_000118.3):c.562C>T (p.Q188*) - ENG_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.572G>A r.(?) p.(Gly191Asp) Parent #1 - benign g.130588091C>T g.127825812C>T - - ENG_000008 - - - rs41322046 Germline - frequency up to 6%; Mutation Database - - - DNA SEQ - - HHT - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.572G>A r.(?) p.(Gly191Asp) Unknown - benign g.130588091C>T g.127825812C>T ENG(NM_000118.3):c.572G>A (p.G191D), ENG(NM_000118.4):c.572G>A (p.G191D), ENG(NM_001114753.2):c.572G>A (p.(Gly191Asp), p.G191D) - ENG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.572G>A r.(?) p.(Gly191Asp) Unknown - likely benign g.130588091C>T g.127825812C>T ENG(NM_000118.3):c.572G>A (p.G191D), ENG(NM_000118.4):c.572G>A (p.G191D), ENG(NM_001114753.2):c.572G>A (p.(Gly191Asp), p.G191D) - ENG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.572G>A r.(?) p.(Gly191Asp) Unknown - benign g.130588091C>T g.127825812C>T ENG(NM_000118.3):c.572G>A (p.G191D), ENG(NM_000118.4):c.572G>A (p.G191D), ENG(NM_001114753.2):c.572G>A (p.(Gly191Asp), p.G191D) - ENG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.572G>A r.(?) p.(Gly191Asp) Unknown - likely benign g.130588091C>T g.127825812C>T ENG(NM_000118.3):c.572G>A (p.G191D), ENG(NM_000118.4):c.572G>A (p.G191D), ENG(NM_001114753.2):c.572G>A (p.(Gly191Asp), p.G191D) - ENG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.572G>A r.(?) p.(Gly191Asp) Unknown - benign g.130588091C>T g.127825812C>T ENG(NM_000118.3):c.572G>A (p.G191D), ENG(NM_000118.4):c.572G>A (p.G191D), ENG(NM_001114753.2):c.572G>A (p.(Gly191Asp), p.G191D) - ENG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.572G>A r.(?) p.(Gly191Asp) Parent #1 - likely benign g.130588091C>T g.127825812C>T - - ENG_000008 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41322046 Germline - 10/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 10 Mohammed Faruq
?/. - c.583G>A r.(?) p.(Glu195Lys) Unknown - VUS g.130588080C>T g.127825801C>T ENG(NM_000118.3):c.583G>A (p.E195K) - ENG_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.583G>A r.(?) p.(Glu195Lys) Unknown - VUS g.130588080C>T - ENG(NM_000118.3):c.583G>A (p.E195K) - ENG_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.589C>T r.(?) p.(Arg197Trp) Maternal (confirmed) - VUS g.130588074G>A g.127825795G>A - - ENG_000145 - PubMed: Wang 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? AVM359 PubMed: Wang 2018 - - - China - - - - - 1 Johan den Dunnen
-?/. - c.595C>T r.(?) p.(Arg199Cys) Unknown - likely benign g.130588068G>A g.127825789G>A ENG(NM_000118.3):c.595C>T (p.R199C) - ENG_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.617dup r.(?) p.(Cys207Leufs*127) Unknown - pathogenic g.130588049dup g.127825770dup - - ENG_000011 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - HHT - - - - - Germany - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
-?/. - c.627G>C r.(?) p.(Leu209Phe) Unknown - likely benign g.130588036C>G g.127825757C>G ENG(NM_000118.3):c.627G>C (p.L209F) - ENG_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.636G>C r.(?) p.(Val212=) Unknown - likely benign g.130588027C>G g.127825748C>G ENG(NM_000118.3):c.636G>C (p.V212=) - ENG_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.640G>A r.(?) p.(Gly214Ser) Parent #1 - VUS g.130588023C>T g.127825744C>T - - ENG_000138 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs150932144 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 5 c.640_643del r.(?) p.(Gly214Thrfs*7) Parent #1 - pathogenic g.130588024_130588027del g.127825745_127825748del - - ENG_000007 - - - - Germline - - - - - DNA SEQ - - HHT - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.653C>A r.(?) p.(Ala218Glu) Unknown - VUS g.130588010G>T g.127825731G>T ENG(NM_000118.3):c.653C>A (p.A218E) - ENG_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.689+2T>C r.spl? p.? Unknown - pathogenic g.130587972A>G g.127825693A>G ENG(NM_000118.3):c.689+2T>C - ENG_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.690-19C>T r.(=) p.(=) Unknown - likely benign g.130587655G>A g.127825376G>A ENG(NM_000118.3):c.690-19C>T - ENG_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.690-19del r.(=) p.(=) Unknown - likely benign g.130587656del - ENG(NM_000118.3):c.690-19delC - ENG_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.690-17C>T r.(=) p.(=) Unknown - likely benign g.130587653G>A g.127825374G>A ENG(NM_000118.3):c.690-17C>T - ENG_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.690-4_690-3dup r.spl? p.? Unknown - likely benign g.130587640_130587641dup - ENG(NM_000118.3):c.690-4_690-3dupGC - ENG_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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