Full data view for gene OPTN

Information The variants shown are described using the NM_001008211.1 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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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.102G>A r.(?) p.(Thr34=) Unknown - benign g.13151224G>A g.13109224G>A OPTN(NM_001008211.1):c.102G>A (p.T34=) - OPTN_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.102G>A r.(?) p.(Thr34=) Unknown - benign g.13151224G>A g.13109224G>A OPTN(NM_001008211.1):c.102G>A (p.T34=) - OPTN_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.102G>A r.(?) p.(Thr34=) Unknown - benign g.13151224G>A g.13109224G>A OPTN(NM_001008211.1):c.102G>A (p.T34=) - OPTN_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.102G>A r.(?) p.(Thr34=) Unknown - benign g.13151224G>A g.13109224G>A OPTN(NM_001008211.1):c.102G>A (p.T34=) - OPTN_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.123G>A r.(?) p.(Leu41=) Unknown - benign g.13151245G>A g.13109245G>A OPTN(NM_001008211.1):c.123G>A (p.L41=) - OPTN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.147C>T r.(?) p.(Thr49=) Unknown - likely benign g.13151269C>T - OPTN(NM_001008211.1):c.147C>T (p.T49=) - OPTN_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.160C>G r.spl p.(Leu54Val) Unknown - pathogenic g.13151282C>G g.13109282C>G - - OPTN_000036 - PubMed: Huang 2014 - - Germline - - - - - DNA SEQ-NG - WES glaucoma G542 PubMed: Huang 2014 - M - China - - - - - 1 LOVD
-?/. - c.293T>A r.(?) p.(Met98Lys) Unknown - likely benign g.13152400T>A g.13110400T>A OPTN(NM_001008211.1):c.293T>A (p.M98K), OPTN(NM_021980.4):c.293T>A (p.M98K) - OPTN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.293T>A r.(?) p.(Met98Lys) Unknown - benign g.13152400T>A g.13110400T>A OPTN(NM_001008211.1):c.293T>A (p.M98K), OPTN(NM_021980.4):c.293T>A (p.M98K) - OPTN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.293T>A r.(?) p.(Met98Lys) Unknown - benign g.13152400T>A g.13110400T>A OPTN(NM_001008211.1):c.293T>A (p.M98K), OPTN(NM_021980.4):c.293T>A (p.M98K) - OPTN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.293T>A r.(?) p.(Met98Lys) Unknown - benign g.13152400T>A g.13110400T>A OPTN(NM_001008211.1):c.293T>A (p.M98K), OPTN(NM_021980.4):c.293T>A (p.M98K) - OPTN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.293T>A r.(?) p.(Met98Lys) Parent #1 - pathogenic g.13152400T>A g.13110400T>A M98K - OPTN_000005 - PubMed: Jiang 2022 - - Germline - 1/486 cases - - - DNA SEQ - - ALS OPTN#3 PubMed: Jiang 2022 - M - China - - - - - 2 Johan den Dunnen
-?/. 5 c.293T>A r.(?) p.(Met98Lys) Unknown - likely benign g.13152400T>A - OPTN (rs11258194) - OPTN_000005 did not segregate in II:7 PubMed: Mackay 2015 - rs11258194 Germline no - - - - DNA SEQ, SEQ-NG, microsat blood - retinal disease I:1, I:4, II:5, II:7, II:10 PubMed: Mackay 2015 - - - - African-American - - - - 5 LOVD
-?/. - c.295G>T r.(?) p.(Ala99Ser) Unknown - likely benign g.13152402G>T g.13110402G>T OPTN(NM_001008211.1):c.295G>T (p.A99S) - OPTN_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.369+40del r.(=) p.(=) Unknown - benign g.13152516del g.13110516del OPTN(NM_001008211.1):c.369+40delT - OPTN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.370-50_626+50del r.(?) p.(Asp124Glyfs*4) Unknown ACMG likely pathogenic (dominant) g.13154403_13158390del - - - OPTN_000039 ACMG: PVS1, PM2_SUP; out of frame Del Ex 5-6 - VCV000831344.1 - Germline ? - - - - DNA SEQ-NG-I - - ALS12 190239 - - M no Germany - - - - - 1 Andreas Laner
+/. - c.381_382insAG r.(?) p.(Asp128Argfs*22) Both (homozygous) - pathogenic (recessive) g.13154464_13154465insAG g.13112464_13112465insAG 691_692insAG - OPTN_000002 - PubMed: Goldstein 2016, Journal: Goldstein 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ALS 26740678-FamPatII1 PubMed: Goldstein 2016, Journal: Goldstein 2016 2-generation family, affected father, 4 sisters F - Morocco Jewish 46y - - - 5 Jamie Zeegers
+/. - c.381_382insAG r.(?) p.(Asp128Argfs*22) Both (homozygous) - pathogenic (recessive) g.13154464_13154465insAG g.13112464_13112465insAG - - OPTN_000002 - PubMed: Goldstein 2016, Journal: Goldstein 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ALS 26740678-FamPatII2 PubMed: Goldstein 2016, Journal: Goldstein 2016 - F - Morocco Jewish 43y - - - 1 Jamie Zeegers
+/. - c.381_382insAG r.(?) p.(Asp128Argfs*22) Both (homozygous) - pathogenic (recessive) g.13154464_13154465insAG g.13112464_13112465insAG - - OPTN_000002 - PubMed: Goldstein 2016, Journal: Goldstein 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ALS 26740678-FamPatII4 PubMed: Goldstein 2016, Journal: Goldstein 2016 PatII4 F - Morocco Jewish 52y - - - 1 Jamie Zeegers
+/. - c.381_382insAG r.(?) p.(Asp128Argfs*22) Paternal (inferred) - pathogenic (recessive) g.13154464_13154465insAG g.13112464_13112465insAG - - OPTN_000002 - PubMed: Goldstein 2016, Journal: Goldstein 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG-I - - Healthy/Control 26740678-FamPatII5 PubMed: Goldstein 2016, Journal: Goldstein 2016 PatII5 F - Morocco Jewish >70y - - - 1 Jamie Zeegers
-?/. - c.398G>A r.(?) p.(Arg133Lys) Unknown - likely benign g.13154481G>A g.13112481G>A OPTN(NM_001008211.1):c.398G>A (p.R133K) - OPTN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.402C>A r.(?) p.(Ala134=) Unknown - benign g.13154485C>A g.13112485C>A OPTN(NM_001008211.1):c.402C>A (p.A134=) - OPTN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.403G>A r.(?) p.(Glu135Lys) Unknown - likely benign g.13154486G>A g.13112486G>A OPTN(NM_001008211.1):c.403G>A (p.E135K) - OPTN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.404A>C r.(?) p.(Glu135Ala) Unknown - likely benign g.13154487A>C g.13112487A>C OPTN(NM_001008211.1):c.404A>C (p.E135A) - OPTN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.447G>A r.(?) p.(Arg149=) Unknown - likely benign g.13154530G>A - OPTN(NM_001008211.1):c.447G>A (p.R149=) - OPTN_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.476G>T r.(?) p.(Gly159Val) Unknown - VUS g.13154559G>T g.13112559G>T OPTN(NM_001008211.1):c.476G>T (p.G159V) - OPTN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.489A>G r.(?) p.(Glu163=) Unknown - likely benign g.13154572A>G g.13112572A>G OPTN(NM_001008211.1):c.489A>G (p.E163=), OPTN(NM_021980.4):c.489A>G (p.E163=) - OPTN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.489A>G r.(?) p.(Glu163=) Unknown - likely benign g.13154572A>G g.13112572A>G OPTN(NM_001008211.1):c.489A>G (p.E163=), OPTN(NM_021980.4):c.489A>G (p.E163=) - OPTN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.489A>G r.(?) p.(Glu163=) Unknown - likely benign g.13154572A>G - OPTN(NM_001008211.1):c.489A>G (p.E163=), OPTN(NM_021980.4):c.489A>G (p.E163=) - OPTN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.493C>T r.(?) p.(Gln165Ter) Unknown - pathogenic g.13154576C>T g.13112576C>T OPTN(NM_001008211.1):c.493C>T (p.Q165*), OPTN(NM_001008212.2):c.493C>T (p.(Gln165Ter)) - OPTN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.493C>T r.(?) p.(Gln165Ter) Unknown - pathogenic g.13154576C>T - OPTN(NM_001008211.1):c.493C>T (p.Q165*), OPTN(NM_001008212.2):c.493C>T (p.(Gln165Ter)) - OPTN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.553-10G>A r.(=) p.(=) Unknown - likely benign g.13158257G>A g.13116257G>A OPTN(NM_001008211.1):c.553-10G>A - OPTN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.553-10G>C r.(=) p.(=) Unknown - likely benign g.13158257G>C - OPTN(NM_001008211.1):c.553-10G>C - OPTN_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.553-5C>T r.spl? p.? Unknown - benign g.13158262C>T g.13116262C>T OPTN(NM_001008211.1):c.553-5C>T - OPTN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.553-5C>T r.spl? p.? Unknown - benign g.13158262C>T g.13116262C>T OPTN(NM_001008211.1):c.553-5C>T - OPTN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.553-5C>T r.spl? p.? Unknown - benign g.13158262C>T g.13116262C>T OPTN(NM_001008211.1):c.553-5C>T - OPTN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.553-5C>T r.spl? p.? Unknown - benign g.13158262C>T g.13116262C>T OPTN(NM_001008211.1):c.553-5C>T - OPTN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6i c.553-5C>T r.spl? p.? Unknown - likely pathogenic g.13158262C>T - c.553-5C>T - OPTN_000010 - PubMed: Booij-2011 - rs2244380 Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
-?/. - c.627-10T>C r.(=) p.(=) Unknown - likely benign g.13160878T>C g.13118878T>C OPTN(NM_001008211.1):c.627-10T>C - OPTN_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.754G>A r.(?) p.(Val252Ile) Unknown - VUS g.13161015G>A - OPTN(NM_001008212.2):c.754G>A (p.(Val252Ile)) - OPTN_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.758C>T r.(?) p.(Ala253Val) Unknown - likely benign g.13161019C>T - OPTN(NM_001008212.1):c.758C>T (p.(Ala253Val)) - OPTN_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.777A>T r.(?) p.(Glu259Asp) Unknown - likely benign g.13161038A>T g.13119038A>T OPTN(NM_001008211.1):c.777A>T (p.E259D) - OPTN_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.844A>C r.(?) p.(Thr282Pro) Unknown - likely benign g.13164449A>C - OPTN(NM_001008212.1):c.844A>C (p.(Thr282Pro)) - OPTN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.872del r.(?) p.(Gly291AlafsTer12) Parent #2 - pathogenic g.13164477del g.13122477del G291fs* - OPTN_000040 - PubMed: Jiang 2022 - - Germline - >1/309 cases - - - DNA SEQ - - ALS OPTN#3 PubMed: Jiang 2022 - M - China - - - - - 2 Johan den Dunnen
?/. - c.882+5G>C r.spl? p.? Unknown - VUS g.13164492G>C g.13122492G>C OPTN(NM_001008211.1):c.882+5G>C - OPTN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.882+5G>C r.spl? p.? Unknown - VUS g.13164492G>C - OPTN(NM_001008211.1):c.882+5G>C - OPTN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.891C>T r.(?) p.(Ser297=) Unknown - likely benign g.13166003C>T g.13124003C>T OPTN(NM_001008211.1):c.891C>T (p.S297=) - OPTN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.909C>A r.(?) p.(Asn303Lys) Unknown - likely benign g.13166021C>A g.13124021C>A OPTN(NM_001008211.1):c.909C>A (p.N303K) - OPTN_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.941A>T r.(?) p.(Gln314Leu) Unknown - VUS g.13166053A>T g.13124053A>T OPTN(NM_001008211.1):c.941A>T (p.Q314L) - OPTN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.963C>T r.(?) p.(Ser321=) Unknown - likely benign g.13166075C>T g.13124075C>T OPTN(NM_001008211.1):c.963C>T (p.S321=) - OPTN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.964= r.(=) p.(Glu322=) Unknown - benign g.13166076A>G g.13124076= OPTN(NM_001008211.1):c.964A>G (p.K322E), OPTN(NM_021980.4):c.964A>G (p.K322E) - OPTN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.964= r.(=) p.(Glu322=) Unknown - benign g.13166076A>G g.13124076= OPTN(NM_001008211.1):c.964A>G (p.K322E), OPTN(NM_021980.4):c.964A>G (p.K322E) - OPTN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.964= r.(=) p.(Glu322=) Unknown - benign g.13166076A>G g.13124076= OPTN(NM_001008211.1):c.964A>G (p.K322E), OPTN(NM_021980.4):c.964A>G (p.K322E) - OPTN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.964= r.(=) p.(Glu322=) Unknown - benign g.13166076A>G g.13124076= OPTN(NM_001008211.1):c.964A>G (p.K322E), OPTN(NM_021980.4):c.964A>G (p.K322E) - OPTN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.964= r.(=) p.(Glu322=) Unknown - benign g.13166076A>G g.13124076= OPTN(NM_001008211.1):c.964A>G (p.K322E), OPTN(NM_021980.4):c.964A>G (p.K322E) - OPTN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.964A>G r.(?) p.(Lys322Glu) Both (homozygous) - likely pathogenic g.13166076A>G - c.964A>G - OPTN_000013 - PubMed: Booij-2011 - rs523747 Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
-?/. - c.1077A>G r.(?) p.(Lys359=) Unknown - likely benign g.13167496A>G g.13125496A>G OPTN(NM_001008211.1):c.1077A>G (p.K359=) - OPTN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1078_1079del r.(?) p.(Lys360ValfsTer18) Unknown - pathogenic g.13167497_13167498del - OPTN(NM_001008211.1):c.1078_1079delAA (p.K360Vfs*18) - OPTN_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1078_1079del r.(?) p.(Lys360ValfsTer18) Both (homozygous) - pathogenic g.13167497_13167498del g.13125497_13125498del delAA del at P.359 - OPTN_000025 - PubMed: Jiang 2022 - - Germline - 1/486 cases - - - DNA SEQ - - ALS OPTN#1 PubMed: Jiang 2022 family, 4 affected M yes China - - - - - 4 Johan den Dunnen
+/. - c.1078_1079del r.(?) p.(Lys360ValfsTer18) Both (homozygous) - pathogenic g.13167497_13167498del g.13125497_13125498del delAA del at P.359 - OPTN_000025 - PubMed: Jiang 2022 - - Germline - 1/486 cases - - - DNA SEQ - - ALS OPTN#2 PubMed: Jiang 2022 - F yes China - - - - - 1 Johan den Dunnen
?/. - c.1229T>C r.(?) p.(Leu410Pro) Unknown - VUS g.13168026T>C - - - OPTN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1242+1G>A r.spl? p.? Unknown - pathogenic g.13168040G>A g.13126040G>A OPTN(NM_001008211.1):c.1242+1G>A - OPTN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1242+1G>A r.spl? p.? Unknown - pathogenic g.13168040G>A g.13126040G>A OPTN(NM_001008211.1):c.1242+1G>A - OPTN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1324C>T r.(?) p.(Leu442=) Unknown - likely benign g.13169826C>T g.13127826C>T OPTN(NM_001008211.1):c.1324C>T (p.L442=) - OPTN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1340T>A r.(?) p.(Met447Lys) Unknown - VUS g.13169842T>A - OPTN(NM_021980.4):c.1340T>A (p.M447K) - OPTN_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1401+4A>G r.spl? p.? Unknown - VUS g.13169907A>G - OPTN(NM_001008211.1):c.1401+4A>G - OPTN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1433A>G r.(?) p.(Glu478Gly) Unknown - pathogenic g.13174098A>G g.13132098A>G - - OPTN_000001 - - - - Germline - - - - - DNA SEQ - - ALS - - - - - - - - - - - 1 Aritoshi Iida
-?/. - c.1442C>T r.(?) p.(Ala481Val) Unknown - likely benign g.13174107C>T - OPTN(NM_001008211.1):c.1442C>T (p.A481V) - OPTN_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1612+10G>A r.(=) p.(=) Unknown - benign g.13175591G>A g.13133591G>A OPTN(NM_001008211.1):c.1612+10G>A - OPTN_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1613-5C>T r.spl? p.? Unknown - likely benign g.13178740C>T g.13136740C>T OPTN(NM_001008211.1):c.1613-5C>T - OPTN_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1618G>C r.(?) p.(Glu540Gln) Unknown - VUS g.13178750G>C - OPTN(NM_001008211.1):c.1618G>C (p.E540Q) - OPTN_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1634G>A r.(?) p.(Arg545Gln) Unknown - likely benign g.13178766G>A g.13136766G>A OPTN(NM_001008211.1):c.1634G>A (p.R545Q) - OPTN_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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