Full data view for gene SOD1

Information The variants shown are described using the NM_000454.4 transcript reference sequence.

70 entries on 1 page. Showing entries 1 - 70.
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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.-109A>G r.(?) p.(=) Unknown - likely benign g.33031974A>G g.31659661A>G SOD1(NM_000454.4):c.-109A>G - SOD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-86T>C r.(?) p.(=) Unknown - benign g.33031997T>C g.31659684T>C SOD1(NM_000454.4):c.-86T>C - SOD1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.13G>C r.(?) p.(Ala5Pro) Parent #1 - pathogenic g.33032095G>C g.31659782G>C A4S - SOD1_000024 - PubMed: Jiang 2022 - - Germline - 1/486 cases - - - DNA SEQ - - ALS SOD1#5 PubMed: Jiang 2022 - M - China - - - - - 2 Johan den Dunnen
+/. 1 c.21C>G r.(?) p.(Cys7Trp) Maternal (confirmed) - pathogenic g.33032103C>G g.31659790C>G - - SOD1_000008 - PubMed: Wang 2014, Journal: Wang 2014 - - Germline - - - - - DNA SEQ - - ALS 24094577-FamPatII1 PubMed: Wang 2014, Journal: Wang 2014 4-generation family, 4 affecteds (3F, M), 5 asymptomatic carriers M - China Chinese >75y06m - - - 4 Jamie Zeegers
+/. 1 c.21C>G r.(?) p.(Cys7Trp) Parent #1 - pathogenic g.33032103C>G g.31659790C>G - - SOD1_000008 - PubMed: Wang 2014, Journal: Wang 2014 - - Germline - - - - - DNA SEQ - - ALS 24094577-FamPatI1 PubMed: Wang 2014, Journal: Wang 2014 PatI1 F - China Chinese 75y - - - 1 Jamie Zeegers
+/. 1 c.21C>G r.(?) p.(Cys7Trp) Maternal (confirmed) - pathogenic g.33032103C>G g.31659790C>G - - SOD1_000008 - PubMed: Wang 2014, Journal: Wang 2014 - - Germline - - - - - DNA SEQ - - ALS 24094577-FamPatII3 PubMed: Wang 2014, Journal: Wang 2014 PatII3 F - China Chinese >71y06m - - - 1 Jamie Zeegers
+/. 1 c.21C>G r.(?) p.(Cys7Trp) Maternal (confirmed) - pathogenic g.33032103C>G g.31659790C>G - - SOD1_000008 - PubMed: Wang 2014, Journal: Wang 2014 - - Germline - - - - - DNA SEQ - - ALS 24094577-FamPatII5 PubMed: Wang 2014, Journal: Wang 2014 PatII5 F - China Chinese 55y - - - 1 Jamie Zeegers
+?/. - c.26T>A r.(?) p.(Leu9Gln) Unknown - likely pathogenic g.33032108T>A g.31659795T>A - - SOD1_000019 - - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/. 1 c.32G>C r.(?) p.(Gly11Ala) Parent #1 - pathogenic g.33032114G>C g.31659801G>C - - SOD1_000000 - - - - Germline - - - - - DNA SEQ - - ALS ? - - - - Argentina Latin American - - - - 1 Ariel I Suarez
-?/. - c.59A>G r.(?) p.(Asn20Ser) Unknown - likely benign g.33032141A>G - SOD1(NM_000454.4):c.59A>G (p.N20S) - SOD1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.68A>T r.(?) p.(Gln23Leu) Parent #1 - pathogenic g.33032150A>T g.31659837A>T - - SOD1_000000 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+?/. - c.68A>T r.(?) p.Gln23Leu Unknown ACMG likely pathogenic g.33032150A>T g.31659837A>T - - SOD1_000000 ACMG grading: PM2,PP1,PP5,PS3; Familial ALS, sister also affected,; reported in Andersen 2003; Fujisawa 2012. Ann Neurol 72: 739 - - - Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
-?/. - c.72+5G>A r.spl? p.? Unknown - likely benign g.33032159G>A g.31659846G>A SOD1(NM_000454.5):c.72+5G>A - SOD1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.72+19G>A r.(=) p.(=) Unknown - likely benign g.33032173G>A g.31659860G>A SOD1(NM_000454.4):c.72+19G>A, SOD1(NM_000454.5):c.72+19G>A - SOD1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.72+19G>A r.(=) p.(=) Unknown - likely benign g.33032173G>A - SOD1(NM_000454.4):c.72+19G>A, SOD1(NM_000454.5):c.72+19G>A - SOD1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.73-108T>A r.(=) p.(=) Unknown - benign g.33035995T>A g.31663682T>A SOD1(NM_000454.4):c.73-108T>A - SOD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.140A>G r.(?) p.(His47Arg) Unknown - pathogenic g.33036170A>G g.31663857A>G SOD1(NM_000454.4):c.140A>G (p.H47R) - SOD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.142G>T r.(?) p.(Val48Phe) Unknown - pathogenic g.33036172G>T g.31663859G>T SOD1(NM_000454.4):c.142G>T (p.V48F) - SOD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.146A>G r.(?) p.(His49Arg) Parent #1 - pathogenic g.33036176A>G g.31663863A>G - - SOD1_000002 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.169+52_169+58del r.(=) p.(=) Unknown - likely benign g.33036251_33036257del - SOD1(NM_000454.4):c.169+52_169+58delAACAGTA, SOD1(NM_000454.4):c.169+52_169+58delAACAGTA (p.?) - SOD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.169+52_169+58del r.(=) p.(=) Unknown - likely benign g.33036251_33036257del - SOD1(NM_000454.4):c.169+52_169+58delAACAGTA, SOD1(NM_000454.4):c.169+52_169+58delAACAGTA (p.?) - SOD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.170-20T>C r.(=) p.(=) Unknown - likely benign g.33038742T>C g.31666429T>C SOD1(NM_000454.5):c.170-20T>C - SCAF4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.170-17C>T r.(=) p.(=) Unknown - likely benign g.33038745C>T g.31666432C>T SOD1(NM_000454.5):c.170-17C>T - SCAF4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.170-14C>T r.(=) p.(=) Unknown - likely benign g.33038748C>T g.31666435C>T SOD1(NM_000454.5):c.170-14C>T - SCAF4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.170-11C>T r.(=) p.(=) Unknown - likely benign g.33038751C>T g.31666438C>T SOD1(NM_000454.5):c.170-11C>T - SCAF4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.214C>T r.(?) p.(His72Tyr) Parent #1 - pathogenic g.33038806C>T g.31666493C>T H71Y - SOD1_000025 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA SEQ - - ALS SOD1#1 PubMed: Ozoguz 2015 3-generation family, 3 affected (2F, M), 5 unaffected heterozygous carriers M - Turkey - - - - - 3 Johan den Dunnen
-?/. - c.216C>T r.(?) p.(His72=) Unknown - likely benign g.33038808C>T g.31666495C>T SOD1(NM_000454.5):c.216C>T (p.H72=) - SCAF4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.234_236del r.(?) p.(Glu79del) Unknown - VUS g.33038826_33038828del - SOD1(NM_000454.4):c.234_236delAGA (p.E79del) - SOD1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.255G>T r.(?) p.(Leu85Phe) Parent #1 - pathogenic g.33039586G>T g.31667273G>T L84F - SOD1_000009 - PubMed: Vats 2016, Journal: Vats 2016 - - Germline - - - - - DNA SEQ - - ALS 26630559-FamPatII1 PubMed: Vats 2016, Journal: Vats 2016 3-generation family, 4 affecteds (2F, 2M, 3deceased), 2 asymptomatic carrier family members M - India India, north >58y - - - 4 Jamie Zeegers
+/. 4 c.255G>T r.(?) p.(Leu85Phe) Parent #1 - pathogenic g.33039586G>T g.31667273G>T - - SOD1_000009 - PubMed: Vats 2016, Journal: Vats 2016 - - Germline - - - - - DNA SEQ - - ALS 26630559-FamPatII7 PubMed: Vats 2016, Journal: Vats 2016 PatII7 F - India India, north 44y - - - 1 Jamie Zeegers
+/. - c.260A>G r.(?) p.(Asn87Ser) Both (homozygous) - pathogenic g.33039591A>G g.31667278A>G N86S - SOD1_000026 - PubMed: Jiang 2022 - - Germline - 1/486 cases - - - DNA SEQ - - ALS SOD1#6 PubMed: Jiang 2022 - M yes China - - - - - 1 Johan den Dunnen
+?/. - c.269C>T r.(?) p.(Ala90Val) Unknown - likely pathogenic g.33039600C>T g.31667287C>T - - SCAF4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.272A>C r.(?) p.Asp91Ala Unknown ACMG VUS g.33039603A>C g.31667290A>C - - SOD1_000017 ACMG grading: PP5,BP4,BS1; reduced penetrance or possible modifier? described 2x homozygous in gnomAD, not in line with a penetrant mendelian pathogenic variant; reported in Anderson 1995. NatGenet 10: 61; Das 2013. JMolBiol 425: 850; Khoris 2000. EurJNeurol 7: 207-11 - - rs80265967 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+/. 4 c.272A>C r.(?) p.(Asp91Ala) Both (homozygous) - pathogenic (recessive) g.33039603A>C g.31667290A>C - - SOD1_000017 - - - - Germline yes - - - - DNA SEQ blood - ALS - family, patient and maternal female cousin with similar condition - M yes Egypt - - - - - 2 Sherifa Ahmed Hamed
+/. - c.272A>C r.(?) p.(Asp91Ala) Both (homozygous) - pathogenic g.33039603A>C g.31667290A>C D90A - SOD1_000017 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA SEQ - - ALS SOD1#2 PubMed: Ozoguz 2015 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.272A>C r.(?) p.(Asp91Ala) Both (homozygous) - pathogenic g.33039603A>C g.31667290A>C D90A - SOD1_000017 - PubMed: Jiang 2022 - - Germline - 1/486 cases - - - DNA SEQ - - ALS SOD1#3 PubMed: Jiang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.272A>C r.(?) p.(Asp91Ala) Both (homozygous) - pathogenic g.33039603A>C g.31667290A>C D90A - SOD1_000017 - PubMed: Jiang 2022 - - Germline - 1/486 cases - - - DNA SEQ - - ALS SOD1#4 PubMed: Jiang 2022 - F - China - - - - - 1 Johan den Dunnen
?/. - c.298A>G r.(?) p.(Ile100Val) Unknown - VUS g.33039629A>G g.31667316A>G SOD1(NM_000454.4):c.298A>G (p.I100V) - SOD1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.341T>C r.(?) p.(Ile114Thr) Unknown - pathogenic g.33039672T>C - SOD1(NM_000454.5):c.341T>C (p.(Ile114Thr)) - SOD1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.346C>T r.(?) p.(Arg116Cys) Parent #1 - likely pathogenic g.33039677C>T g.31667364C>T - - SOD1_000007 - PubMed: Tortelli 2013, Journal: Tortelli 2013 - - Germline - - - - - DNA SEQ - - ALS 23182243-Pat1 PubMed: Tortelli 2013, Journal: Tortelli 2013 - M - Italy Italian >74y - - - 1 Jamie Zeegers
+/. 5 c.365A>G r.(?) p.(Glu122Gly) Parent #1 - pathogenic g.33040791A>G g.31668478A>G - - SOD1_000003 performed functional assay PubMed: Dangoumau 2015, Journal: Dangoumau 2015 - - Germline - - - - - DNA, RNA PCR, SEQ - - ALS 25336041-Pat PubMed: Dangoumau 2015, Journal: Dangoumau 2015 no familial history F - France - >74y - - - 1 Jamie Zeegers
+?/. 5 c.383_392dup r.(?) p.(Asn132Glnfs*5) Parent #1 - likely pathogenic g.33040809_33040818dup g.31668496_31668505dup 392_393insGCAAAGGTGG - SOD1_000004 - PubMed: Chen 2016, Journal: Chen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - ALS 27297615-FamPatIII3 PubMed: Chen 2016, Journal: Chen 2016 4-generation family, 4-affecteds (3 deceased F) F - China Chinese 37y - - - 4 Jamie Zeegers
+/. 5 c.383_392dup r.(?) p.(Asn132Glnfs*5) Maternal (inferred) - pathogenic g.33040809_33040818dup g.31668496_31668505dup 392_393insGCAAAGGTGG - SOD1_000004 - PubMed: Chen 2016, Journal: Chen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - ALS 27297615-FamPatIII5 PubMed: Chen 2016, Journal: Chen 2016 PatIII5 M - China Chinese >33y - - - 1 Jamie Zeegers
+/. 5 c.404G>C r.(?) p.(Ser135Thr) Parent #1 - pathogenic g.33040830G>C g.31668517G>C - - SOD1_000005 - PubMed: Cui 2013, Journal: Cui 2013 - - De novo - - - - - DNA PCR, SEQ - - ALS 23889606-FamPatII6 PubMed: Cui 2013, Journal: Cui 2013 3-generation faily, 1 affected F - China Chinese >47y - - - 1 Jamie Zeegers
-?/. - c.408A>G r.(?) p.(Thr136=) Unknown - likely benign g.33040834A>G g.31668521A>G SOD1(NM_000454.5):c.408A>G (p.T136=) - SCAF4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.423T>A r.(?) p.(Ala141=) Unknown - likely benign g.33040849T>A g.31668536T>A SOD1(NM_000454.4):c.423T>A (p.A141=), SOD1(NM_000454.5):c.423T>A (p.A141=) - SCAF4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.423T>A r.(?) p.(Ala141=) Unknown - likely benign g.33040849T>A g.31668536T>A SOD1(NM_000454.4):c.423T>A (p.A141=), SOD1(NM_000454.5):c.423T>A (p.A141=) - SCAF4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.423T>A r.(?) p.(Ala141=) Unknown - likely benign g.33040849T>A g.31668536T>A SOD1(NM_000454.4):c.423T>A (p.A141=), SOD1(NM_000454.5):c.423T>A (p.A141=) - SCAF4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.434T>C r.(?) p.(Leu145Ser) Unknown - pathogenic g.33040860T>C - SOD1(NM_000454.4):c.434T>C (p.L145S) - SOD1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.435G>C r.(?) p.(Leu145Phe) Unknown - pathogenic g.33040861G>C g.31668548G>C - - SOD1_000020 BC at age 26y, mother OC under age 50y; Adem et al. 2003. Cancer 97: 1; Thomassen et al. 2008. Acta Oncol 47: 772-7; Wappenschmidt et al. 2012. PLoS one 7: e50800 - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - F - Germany - - - - - 1 Andreas Laner
+/. - c.435G>C r.(?) p.(Leu145Phe) Unknown - pathogenic g.33040861G>C g.31668548G>C L144F - SOD1_000020 - PubMed: Jiang 2022 - - Germline - 1/486 cases - - - DNA SEQ - - ALS SOD1#7 PubMed: Jiang 2022 - F - China - - - - - 1 Johan den Dunnen
+/. - c.435G>C r.(?) p.(Leu145Phe) Unknown - pathogenic g.33040861G>C g.31668548G>C L144F - SOD1_000020 - PubMed: Jiang 2022 - - Germline - 1/486 cases - - - DNA SEQ - - ALS SOD1#8 PubMed: Jiang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.435G>C r.(?) p.(Leu145Phe) Unknown - pathogenic g.33040861G>C g.31668548G>C L144F - SOD1_000020 - PubMed: Jiang 2022 - - Germline - 1/486 cases - - - DNA SEQ - - ALS SOD1#9 PubMed: Jiang 2022 - F - China - - - - - 1 Johan den Dunnen
?/. 5 c.436G>A r.(?) p.(Ala146Thr) Unknown - VUS g.33040862G>A g.31668549G>A - - SOD1_000023 - PubMed: Ganapathy 2019 ClinVar-RCV000015892.26 rs121912447 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-5011 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. - c.443G>C r.(?) p.(Gly148Ala) Unknown - likely pathogenic g.33040869G>C - SOD1(NM_000454.4):c.443G>C (p.G148A) - SOD1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.446T>G r.(?) p.(Val149Gly) Unknown - pathogenic g.33040872T>G g.31668559T>G V149G - SOD1_000027 - PubMed: Jiang 2022 - - Germline - 1/486 cases - - - DNA SEQ - - ALS SOD1#10 PubMed: Jiang 2022 - F - China - - - - - 1 Johan den Dunnen
+/. 5 c.449T>C r.(?) p.(Ile150Thr) Maternal (inferred) - pathogenic g.33040875T>C g.31668562T>C - - SOD1_000006 - PubMed: Trosji 2013 - - Germline - - - - - DNA PCR, SEQ - - ALS 23853506-FamPatIV9 PubMed: Trosji 2013 5-generation family, 24 affecteds (15F, 10M), PatIV9 F - Italy Italian >49y - - - 24 Jamie Zeegers
-?/. - c.*2871A>T r.(=) p.(=) Unknown - likely benign g.33043762A>T g.31671449A>T SCAF4(NM_020706.2):c.3394T>A (p.S1132T) - SCAF4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2871A>T r.(=) p.(=) Unknown - VUS g.33043762A>T - SCAF4(NM_020706.2):c.3394T>A (p.S1132T) - SCAF4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2895_*2896del r.(=) p.(=) Unknown - VUS g.33043786_33043787del - SCAF4(NM_020706.2):c.3371_3372delAG (p.E1124Vfs*4) - SOD1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3048C>T r.(=) p.(=) Unknown - likely benign g.33043939C>T - SCAF4(NM_020706.2):c.3217G>A (p.(Glu1073Lys)) - SOD1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3379_*3387del r.(=) p.(=) Unknown - VUS g.33044270_33044278del - SCAF4(NM_020706.2):c.2891_2899delAGCAGCAGC (p.Q964_Q966del) - SOD1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3386_*3388del r.(=) p.(=) Unknown - likely benign g.33044277_33044279del - SCAF4(NM_020706.2):c.2877_2879delACA (p.Q966del) - SOD1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3469C>A r.(=) p.(=) Unknown - likely benign g.33044360C>A g.31672047C>A SCAF4(NM_020706.2):c.2796G>T (p.G932=) - SCAF4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3472T>C r.(=) p.(=) Unknown - likely benign g.33044363T>C g.31672050T>C SCAF4(NM_020706.2):c.2793A>G (p.P931=) - SCAF4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3514C>A r.(=) p.(=) Unknown - VUS g.33044405C>A - SCAF4(NM_020706.2):c.2751G>T (p.R917S) - SOD1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3533G>A r.(=) p.(=) Unknown - VUS g.33044424G>A - SCAF4(NM_020706.2):c.2732C>T (p.(Pro911Leu)) - SOD1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3617G>A r.(=) p.(=) Unknown - VUS g.33044508G>A - SCAF4(NM_020706.2):c.2648C>T (p.(Pro883Leu)) - SOD1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3703G>A r.(=) p.(=) Unknown - likely benign g.33044594G>A g.31672281G>A SCAF4(NM_020706.2):c.2562C>T (p.P854=) - SCAF4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3779A>G r.(=) p.(=) Unknown - likely benign g.33044670A>G g.31672357A>G SCAF4(NM_020706.2):c.2489-3T>C - SCAF4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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