Full data view for gene INF2

Information The variants shown are described using the NM_022489.3 transcript reference sequence.

204 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.-85G>A r.(?) p.(=) Unknown - benign g.105156001G>A g.104689664G>A - - INF2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-10G>A r.(?) p.(=) Unknown - benign g.105156076G>A g.104689739G>A - - INF2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10+16C>A r.(=) p.(=) Unknown - likely benign g.105156092C>A - INF2(NM_022489.3):c.-10+16C>A - INF2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.(?_-1)_(*1_?)dup r.= p.= Parent #1 ACMG likely pathogenic g.(?_105167702)_(105181677_?)dup - duplication entire gene - INF2_000058 ACMG pm2, pm4, pp3, pp4 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat8 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - 1 Johan den Dunnen
-?/. - c.18C>T r.(?) p.(=) Unknown - likely benign g.105167720C>T - INF2(NM_022489.4):c.18C>T (p.G6=) - INF2_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.27dup r.(?) p.(Lys10GlnfsTer136) Unknown - VUS g.105167729dup g.104701392dup INF2(NM_022489.4):c.27dupC (p.K10Qfs*136) - INF2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.42G>A r.(?) p.(Leu14=) Unknown - benign g.105167744G>A g.104701407G>A INF2(NM_022489.3):c.42G>A (p.L14=), INF2(NM_022489.4):c.42G>A (p.L14=) - INF2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.42G>A r.(?) p.(Leu14=) Unknown - benign g.105167744G>A g.104701407G>A INF2(NM_022489.3):c.42G>A (p.L14=), INF2(NM_022489.4):c.42G>A (p.L14=) - INF2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.67T>A r.(?) p.(Ser23Thr) Unknown - likely benign g.105167769T>A - INF2(NM_022489.3):c.67T>A (p.S23T), INF2(NM_022489.4):c.67T>A (p.S23T) - INF2_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.67T>A r.(?) p.(Ser23Thr) Unknown - likely benign g.105167769T>A - INF2(NM_022489.3):c.67T>A (p.S23T), INF2(NM_022489.4):c.67T>A (p.S23T) - INF2_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.105C>T r.(?) p.(Pro35=) Unknown - benign g.105167807C>T g.104701470C>T INF2(NM_022489.3):c.105C>T (p.P35=), INF2(NM_022489.4):c.105C>T (p.P35=) - INF2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.105C>T r.(?) p.(Pro35=) Unknown - benign g.105167807C>T g.104701470C>T INF2(NM_022489.3):c.105C>T (p.P35=), INF2(NM_022489.4):c.105C>T (p.P35=) - INF2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.105C>T r.(?) p.(Pro35=) Unknown - benign g.105167807C>T g.104701470C>T INF2(NM_022489.3):c.105C>T (p.P35=), INF2(NM_022489.4):c.105C>T (p.P35=) - INF2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.158T>G r.(?) p.(Leu53Arg) Unknown - pathogenic g.105167860T>G g.104701523T>G - - INF2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.204C>G r.(?) p.(Phe68Leu) Unknown - VUS g.105167906C>G g.104701569C>G - - INF2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.217G>A r.(?) p.(Gly73Ser) Unknown - pathogenic g.105167919G>A g.104701582G>A INF2(NM_022489.3):c.217G>A (p.G73S) - INF2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.217G>C r.(?) p.(Gly73Arg) Unknown - pathogenic g.105167919G>C g.104701582G>C INF2(NM_022489.3):c.217G>C (p.G73R) - INF2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.217G>T r.(?) p.(Gly73Cys) Unknown - pathogenic g.105167919G>T g.104701582G>T INF2(NM_022489.3):c.217G>T (p.G73C) - INF2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.218G>T r.(?) p.(Gly73Val) Unknown - likely pathogenic g.105167920G>T - - - INF2_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.264C>T r.(?) p.(=) Unknown - likely benign g.105167966C>T - INF2(NM_022489.3):c.264C>T (p.G88=) - INF2_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.310T>C r.(?) p.(Cys104Arg) Unknown - pathogenic g.105168012T>C g.104701675T>C - - INF2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.326T>G r.(?) p.(Met109Arg) Unknown - pathogenic g.105168028T>G g.104701691T>G - - INF2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.341G>A r.(?) p.(Gly114Asp) Unknown - pathogenic g.105168043G>A g.104701706G>A INF2(NM_022489.4):c.341G>A (p.G114D) - INF2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.391+6C>T r.(=) p.(=) Unknown - benign g.105168099C>T g.104701762C>T INF2(NM_022489.3):c.391+6C>T, INF2(NM_022489.4):c.391+6C>T - INF2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.391+6C>T r.(=) p.(=) Unknown - benign g.105168099C>T g.104701762C>T INF2(NM_022489.3):c.391+6C>T, INF2(NM_022489.4):c.391+6C>T - INF2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.391+6C>T r.(=) p.(=) Unknown - benign g.105168099C>T g.104701762C>T INF2(NM_022489.3):c.391+6C>T, INF2(NM_022489.4):c.391+6C>T - INF2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.391+17G>A r.(=) p.(=) Unknown - benign g.105168110G>A g.104701773G>A INF2(NM_022489.4):c.391+17G>A - INF2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.391+18A>T r.(=) p.(=) Unknown - benign g.105168111A>T g.104701774A>T INF2(NM_022489.4):c.391+18A>T - INF2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408C>T r.(?) p.(=) Unknown - likely benign g.105169458C>T - INF2(NM_022489.3):c.408C>T (p.N136=) - INF2_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.474C>T r.(?) p.(His158=) Unknown - likely benign g.105169524C>T - INF2(NM_001031714.4):c.474C>T (p.H158=), INF2(NM_022489.3):c.474C>T (p.H158=) - INF2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.474C>T r.(?) p.(His158=) Unknown - likely benign g.105169524C>T - INF2(NM_001031714.4):c.474C>T (p.H158=), INF2(NM_022489.3):c.474C>T (p.H158=) - INF2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.485T>C r.(?) p.(Leu162Pro) Unknown - likely pathogenic g.105169535T>C - INF2(NM_022489.3):c.485T>C (p.L162P) - INF2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.490G>A r.(?) p.(Ala164Thr) Unknown - VUS g.105169540G>A - INF2(NM_001031714.4):c.490G>A (p.A164T) - INF2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.490G>C r.(?) p.(Ala164Pro) Unknown - likely pathogenic (dominant) g.105169540G>C g.104703203G>C - - INF2_000095 - PubMed: Buscher 2018 - - Germline yes - - - - DNA SEQ-NG blood - FSGS5 - PubMed: Büscher 2018 4-generation family, 14 affected (6F, 8M) M no Germany - 44y - - - 7 Matthias Braunisch
-?/. - c.507+7G>A r.(=) p.(=) Unknown - likely benign g.105169564G>A - INF2(NM_001031714.4):c.507+7G>A - INF2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.529C>T r.(?) p.(Arg177Cys) Unknown - likely pathogenic g.105169653C>T g.104703316C>T - - INF2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.544A>G r.(?) p.Met182Val Unknown ACMG VUS g.105169668A>G g.104703331A>G - - INF2_000057 - - - - Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
+/. - c.550G>A r.(?) p.(Glu184Lys) Unknown - pathogenic g.105169674G>A - INF2(NM_022489.3):c.550G>A (p.E184K) - INF2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.578A>G r.(?) p.(Tyr193Cys) Unknown - likely pathogenic g.105169702A>G g.104703365A>G - - INF2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.586A>T r.(?) p.(Thr196Ser) Unknown - VUS g.105169710A>T - INF2(NM_022489.3):c.586A>T (p.T196S) - INF2_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.597C>T r.(?) p.(Ser199=) Unknown - likely benign g.105169721C>T - INF2(NM_022489.4):c.597C>T (p.S199=) - INF2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.607G>A r.(?) p.(Ala203Thr) Unknown - VUS g.105169731G>A - INF2(NM_022489.3):c.607G>A (p.A203T) - INF2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.609C>T r.(?) p.(Ala203=) Unknown - benign g.105169733C>T g.104703396C>T INF2(NM_022489.3):c.609C>T (p.A203=) - INF2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.610G>A r.(?) p.(Val204Ile) Unknown - benign g.105169734G>A g.104703397G>A INF2(NM_022489.3):c.610G>A (p.V204I) - INF2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.636C>T r.(?) p.(Arg212=) Unknown - likely benign g.105169760C>T g.104703423C>T INF2(NM_022489.4):c.636C>T (p.R212=) - INF2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.653G>A r.(?) p.(Arg218Gln) Unknown - pathogenic g.105169777G>A - INF2(NM_022489.3):c.653G>A (p.R218Q) - INF2_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.658G>A r.(?) p.(Glu220Lys) Maternal (confirmed) - likely pathogenic g.105169782G>A g.104703445G>A - - INF2_000001 - PubMed: Bullich 2015, Journal: Bullich 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: Bullich 2015, Journal: Bullich 2015 - - - Spain - - - - - 1 Elisabet Ars Criach
-/. - c.668-46C>T r.(=) p.(=) Unknown - benign g.105170207C>T g.104703870C>T INF2(NM_022489.3):c.668-46C>T - INF2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.668-12G>A r.(=) p.(=) Unknown - likely benign g.105170241G>A - INF2(NM_001031714.4):c.668-12G>A - INF2_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.671T>G r.(?) p.(Leu224Arg) Unknown - likely pathogenic g.105170256T>G g.104703919T>G - - INF2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.782G>A r.(?) p.(Arg261Gln) Unknown - likely benign g.105172452G>A - INF2(NM_022489.3):c.782G>A (p.R261Q) - INF2_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.798C>G r.(?) p.(Val266=) Unknown - likely benign g.105172468C>G g.104706131C>G INF2(NM_022489.4):c.798C>G (p.V266=) - INF2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.799G>A r.(?) p.(Asp267Asn) Unknown - likely benign g.105172469G>A - INF2(NM_022489.3):c.799G>A (p.D267N) - INF2_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.843+16C>T r.(=) p.(=) Unknown - benign g.105172529C>T g.104706192C>T INF2(NM_022489.4):c.843+16C>T - INF2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.843+16C>T r.(=) p.(=) Unknown - benign g.105172529C>T g.104706192C>T INF2(NM_022489.4):c.843+16C>T - INF2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.844-6G>A r.(=) p.(=) Unknown - likely benign g.105173241G>A - INF2(NM_022489.3):c.844-6G>A - INF2_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.858G>A r.(?) p.(Pro286=) Unknown - likely benign g.105173261G>A - INF2(NM_022489.3):c.858G>A (p.P286=) - INF2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.879G>A r.(?) p.(Ser293=) Unknown - benign g.105173282G>A g.104706945G>A INF2(NM_022489.4):c.879G>A (p.S293=) - INF2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.879G>A r.(?) p.(Ser293=) Unknown - benign g.105173282G>A g.104706945G>A INF2(NM_022489.4):c.879G>A (p.S293=) - INF2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.885G>A r.(?) p.(Leu295=) Unknown - likely benign g.105173288G>A g.104706951G>A INF2(NM_022489.3):c.885G>A (p.L295=), INF2(NM_022489.4):c.885G>A (p.L295=) - INF2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.885G>A r.(?) p.(Leu295=) Unknown - likely benign g.105173288G>A - INF2(NM_022489.3):c.885G>A (p.L295=), INF2(NM_022489.4):c.885G>A (p.L295=) - INF2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1003G>C r.(?) p.(Glu335Gln) Unknown - VUS g.105173607G>C g.104707270G>C INF2(NM_022489.4):c.1003G>C (p.E335Q) - INF2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1049C>T r.(?) p.(Pro350Leu) Unknown - benign g.105173653C>T - INF2(NM_022489.4):c.1049C>T (p.P350L) - INF2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1050G>C r.(?) p.(Pro350=) Unknown - likely benign g.105173654G>C g.104707317G>C INF2(NM_022489.4):c.1050G>C (p.P350=) - INF2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1144A>G r.(?) p.(Ser382Gly) Unknown - likely benign g.105173748A>G g.104707411A>G INF2(NM_022489.3):c.1144A>G (p.S382G), INF2(NM_022489.4):c.1144A>G (p.S382G) - INF2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1144A>G r.(?) p.(Ser382Gly) Unknown - likely benign g.105173748A>G - INF2(NM_022489.3):c.1144A>G (p.S382G), INF2(NM_022489.4):c.1144A>G (p.S382G) - INF2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1182C>T r.(?) p.(=) Unknown - likely benign g.105173786C>T - INF2(NM_022489.4):c.1182C>T (p.C394=) - INF2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1198G>A r.(?) p.(Ala400Thr) Unknown - VUS g.105173802G>A - INF2(NM_022489.4):c.1198G>A (p.A400T) - INF2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1221A>T r.(?) p.(Lys407Asn) Unknown - VUS g.105173825A>T - INF2(NM_001031714.4):c.1221A>T (p.K407N) - INF2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1227G>T r.(?) p.(Ser409=) Unknown - benign g.105173831G>T g.104707494G>T INF2(NM_022489.3):c.1227G>T (p.S409=), INF2(NM_022489.4):c.1227G>T (p.S409=) - INF2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1227G>T r.(?) p.(Ser409=) Unknown - benign g.105173831G>T g.104707494G>T INF2(NM_022489.3):c.1227G>T (p.S409=), INF2(NM_022489.4):c.1227G>T (p.S409=) - INF2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1263A>C r.(?) p.(Pro421=) Unknown - benign g.105173867A>C - INF2(NM_001031714.4):c.1263A>C (p.P421=) - INF2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1269A>C r.(?) p.(Pro423=) Unknown - benign g.105173873A>C - INF2(NM_001031714.4):c.1269A>C (p.P423=) - INF2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1274_1285del r.(?) p.(Pro425_Pro428del) Unknown - benign g.105173878_105173889del g.104707541_104707552del INF2(NM_022489.4):c.1274_1285delCACCCCCACCCC (p.P425_P428del) - INF2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1275A>C r.(?) p.(Pro425=) Unknown - benign g.105173879A>C - INF2(NM_001031714.4):c.1275A>C (p.P425=) - INF2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1280_1285del r.(?) p.(Pro427_Pro428del) Unknown - benign g.105173884_105173889del g.104707547_104707552del INF2(NM_022489.3):c.1280_1285delCACCCC (p.P427_P428del), INF2(NM_022489.4):c.1280_1285delCACCCC (p.P427_P428del) - INF2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1280_1285del r.(?) p.(Pro427_Pro428del) Unknown - benign g.105173884_105173889del g.104707547_104707552del INF2(NM_022489.3):c.1280_1285delCACCCC (p.P427_P428del), INF2(NM_022489.4):c.1280_1285delCACCCC (p.P427_P428del) - INF2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1281A>C r.(?) p.(Pro427=) Unknown - benign g.105173885A>C g.104707548A>C INF2(NM_001031714.4):c.1281A>C (p.P427=) - INF2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1281_1286del r.(?) p.(Pro428_Leu429del) Unknown - benign g.105173885_105173890del g.104707548_104707553del INF2(NM_022489.4):c.1281_1286delACCCCT (p.P428_L429del) - INF2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1286_1289del r.(?) p.(Leu429Profs*128) Unknown - benign g.105173890_105173893del - INF2(NM_001031714.4):c.1286_1289delTGCT (p.L429Pfs*128) - INF2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1309C>T r.(?) p.(Pro437Ser) Unknown - VUS g.105173913C>T g.104707576C>T INF2(NM_022489.4):c.1309C>T (p.P437S) - INF2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1360C>T r.(?) p.(Leu454Phe) Unknown - VUS g.105173964C>T g.104707627C>T INF2(NM_001031714.4):c.1360C>T (p.L454F) - INF2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1372C>T r.(?) p.(Pro458Ser) Unknown - likely pathogenic g.105173976C>T g.104707639C>T SLC7A9(NM_014270.4):c.829G>A(p.V277M);INF2(NM_022489.3):c.1372C>T(p.P458S) - INF2_000124 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 247 - - - DNA SEQ-NG-I blood - ? WHP147 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
?/. - c.1438C>G r.(?) p.(Leu480Val) Unknown - VUS g.105174042C>G g.104707705C>G INF2(NM_022489.4):c.1438C>G (p.L480V) - INF2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1448C>T r.(?) p.(Ser483Phe) Unknown - likely benign g.105174052C>T - INF2(NM_022489.3):c.1448C>T (p.S483F) - INF2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1451G>A r.(?) p.(Cys484Tyr) Unknown - benign g.105174055G>A g.104707718G>A INF2(NM_022489.3):c.1451G>A (p.C484Y), INF2(NM_022489.4):c.1451G>A (p.C484Y, p.(Cys484Tyr)) - INF2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1451G>A r.(?) p.(Cys484Tyr) Unknown - likely benign g.105174055G>A - INF2(NM_022489.3):c.1451G>A (p.C484Y), INF2(NM_022489.4):c.1451G>A (p.C484Y, p.(Cys484Tyr)) - INF2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1451G>A r.(?) p.(Cys484Tyr) Unknown - likely benign g.105174055G>A - INF2(NM_022489.3):c.1451G>A (p.C484Y), INF2(NM_022489.4):c.1451G>A (p.C484Y, p.(Cys484Tyr)) - INF2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1452T>C r.(?) p.(Cys484=) Unknown - likely benign g.105174056T>C g.104707719T>C INF2(NM_001031714.4):c.1452T>C (p.C484=), INF2(NM_022489.4):c.1452T>C (p.C484=) - INF2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1458C>T r.(?) p.(Phe486=) Unknown - likely benign g.105174062C>T g.104707725C>T INF2(NM_022489.4):c.1458C>T (p.F486=) - INF2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1500G>C r.(?) p.(Pro500=) Unknown - likely benign g.105174104G>C - INF2(NM_022489.3):c.1500G>C (p.P500=) - INF2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1547C>T r.(?) p.(Pro516Leu) Unknown - benign g.105174151C>T g.104707814C>T INF2(NM_022489.4):c.1547C>T (p.P516L) - INF2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1582C>T r.(?) p.(Pro528Ser) Unknown - benign g.105174186C>T g.104707849C>T INF2(NM_022489.3):c.1582C>T (p.P528S), INF2(NM_022489.4):c.1582C>T (p.P528S) - INF2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1582C>T r.(?) p.(Pro528Ser) Unknown - benign g.105174186C>T g.104707849C>T INF2(NM_022489.3):c.1582C>T (p.P528S), INF2(NM_022489.4):c.1582C>T (p.P528S) - INF2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1587C>T r.(?) p.(=) Unknown - benign g.105174191C>T - INF2(NM_022489.4):c.1587C>T (p.P529=) - INF2_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1593G>A r.(?) p.(Ala531=) Unknown - likely benign g.105174197G>A - INF2(NM_022489.3):c.1593G>A (p.A531=) - INF2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1614C>T r.(?) p.(Ile538=) Unknown - likely benign g.105174218C>T - INF2(NM_022489.3):c.1614C>T (p.I538=) - INF2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1732C>T r.(?) p.(Arg578Cys) Unknown - likely benign g.105174336C>T - INF2(NM_022489.3):c.1732C>T (p.R578C) - INF2_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1735+73G>A r.(=) p.(=) Unknown - benign g.105174412G>A g.104708075G>A INF2(NM_022489.3):c.1735+73G>A - INF2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1736-6C>T r.(=) p.(=) Unknown - benign g.105174767C>T - INF2(NM_022489.3):c.1736-6C>T - INF2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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