Full data view for gene ZBTB12

Information The variants shown are described using the NM_181842.2 transcript reference sequence.

120 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-48561T>C r.(?) p.(=) Unknown - likely benign g.31918154A>G g.31950377A>G CFB(NM_001710.5):c.1598A>G (p.K533R), CFB(NM_001710.6):c.1598A>G (p.K533R) - C2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-48561T>C r.(?) p.(=) Unknown - likely benign g.31918154A>G g.31950377A>G CFB(NM_001710.5):c.1598A>G (p.K533R), CFB(NM_001710.6):c.1598A>G (p.K533R) - C2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-48561T>C r.(?) p.(=) Unknown - VUS g.31918154A>G - CFB(NM_001710.5):c.1598A>G (p.K533R), CFB(NM_001710.6):c.1598A>G (p.K533R) - C2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-48511C>T r.(?) p.(=) Unknown - likely benign g.31918104G>A - CFB(NM_001710.5):c.1548G>A (p.V516=) - C2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-48487G>A r.(?) p.(=) Unknown - likely benign g.31918080C>T g.31950303C>T CFB(NM_001710.5):c.1524C>T (p.H508=) - CFB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-48487G>A r.(?) p.(=) Unknown - likely benign g.31918080C>T g.31950303C>T CFB(NM_001710.5):c.1524C>T (p.H508=) - CFB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-48487G>A r.(?) p.(=) Unknown - likely benign g.31918080C>T g.31950303C>T CFB(NM_001710.5):c.1524C>T (p.H508=) - CFB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-48289G>A r.(?) p.(=) Unknown - VUS g.31917882C>T - - - C2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-47748T>G r.(?) p.(=) Unknown - likely benign g.31917341A>C g.31949564A>C CFB(NM_001710.5):c.1408+7A>C - C2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-47748T>G r.(?) p.(=) Unknown - likely benign g.31917341A>C - CFB(NM_001710.5):c.1408+7A>C - C2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-47707C>T r.(?) p.(=) Unknown - VUS g.31917300G>A - - - C2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-47698G>A r.(?) p.(=) Unknown - benign g.31917291C>T g.31949514C>T CFB(NM_001710.5):c.1365C>T (p.V455=) - CFB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-47698G>A r.(?) p.(=) Unknown - benign g.31917291C>T g.31949514C>T CFB(NM_001710.5):c.1365C>T (p.V455=) - CFB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-47674G>T r.(?) p.(=) Unknown - VUS g.31917267C>A - - - C2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-47475C>T r.(?) p.(=) Unknown - VUS g.31917068G>A - - - C2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-47392A>T r.(?) p.(=) Unknown - benign g.31916985T>A g.31949208T>A CFB(NM_001710.5):c.1169-35T>A - CFB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-47128A>G r.(?) p.(=) Unknown - VUS g.31916721T>C - CFB(NM_001710.6):c.1151T>C (p.I384T) - C2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-47120G>A r.(?) p.(=) Unknown - likely benign g.31916713C>T g.31948936C>T CFB(NM_001710.5):c.1143C>T (p.R381=) - CFB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-47120G>A r.(?) p.(=) Unknown - likely benign g.31916713C>T g.31948936C>T CFB(NM_001710.5):c.1143C>T (p.R381=) - CFB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-47120G>A r.(?) p.(=) Unknown - likely benign g.31916713C>T - CFB(NM_001710.5):c.1143C>T (p.R381=) - CFB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-47114G>A r.(?) p.(=) Unknown - benign g.31916707C>T g.31948930C>T - - C2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-47083G>A r.(?) p.(=) Unknown - VUS g.31916676C>T - CFB(NM_001710.5):c.1106C>T (p.P369L) - C2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-47083G>A r.(?) p.(=) Unknown - likely benign g.31916676C>T - CFB(NM_001710.5):c.1106C>T (p.P369L) - C2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-47051G>A r.(?) p.(=) Unknown - VUS g.31916644C>T g.31948867C>T - - C2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-47004G>C r.(?) p.(=) Unknown - likely benign g.31916597C>G g.31948820C>G CFB(NM_001710.5):c.1037-10C>G - C2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-47004G>C r.(?) p.(=) Unknown - VUS g.31916597C>G g.31948820C>G CFB(NM_001710.5):c.1037-10C>G - C2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-47004G>C r.(?) p.(=) Unknown - likely benign g.31916597C>G - CFB(NM_001710.5):c.1037-10C>G - C2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-46675G>A r.(?) p.(=) Unknown - VUS g.31916268C>T - - - C2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-46638T>G r.(?) p.(=) Unknown - likely benign g.31916231A>C - CFB(NM_001710.5):c.978A>C (p.E326D) - C2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-46420A>G r.(?) p.(=) Unknown - benign g.31916013T>C g.31948236T>C CFB(NM_001710.5):c.898-138T>C - CFB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-46285_-46282del r.(?) p.(=) Unknown - likely benign g.31915875_31915878del - CFB(NM_001710.5):c.897+17_897+20delCCTG - C2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-46226G>A r.(?) p.(=) Unknown - benign g.31915819C>T g.31948042C>T CFB(NM_001710.5):c.858C>T (p.F286=) - C2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-46226G>A r.(?) p.(=) Unknown - benign g.31915819C>T - CFB(NM_001710.5):c.858C>T (p.F286=) - C2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-46021C>T r.(?) p.(=) Unknown - benign g.31915614G>A g.31947837G>A - - CFB_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-46003C>T r.(?) p.(=) Unknown - VUS g.31915596G>A - - - C2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-45991T>G r.(?) p.(=) Unknown - likely benign g.31915584A>C g.31947807A>C CFB(NM_001710.5):c.724A>C (p.I242L, p.(Ile242Leu)), CFB(NM_001710.6):c.724A>C (p.I242L) - C2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45991T>G r.(?) p.(=) Unknown - VUS g.31915584A>C g.31947807A>C CFB(NM_001710.5):c.724A>C (p.I242L, p.(Ile242Leu)), CFB(NM_001710.6):c.724A>C (p.I242L) - C2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-45991T>G r.(?) p.(=) Unknown - likely benign g.31915584A>C - CFB(NM_001710.5):c.724A>C (p.I242L, p.(Ile242Leu)), CFB(NM_001710.6):c.724A>C (p.I242L) - C2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45991T>G r.(?) p.(=) Unknown - VUS g.31915584A>C - CFB(NM_001710.5):c.724A>C (p.I242L, p.(Ile242Leu)), CFB(NM_001710.6):c.724A>C (p.I242L) - C2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-45991T>G r.(?) p.(=) Unknown - likely benign g.31915584A>C - CFB(NM_001710.5):c.724A>C (p.I242L, p.(Ile242Leu)), CFB(NM_001710.6):c.724A>C (p.I242L) - C2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-45987C>T r.(?) p.(=) Unknown - benign g.31915580G>A g.31947803G>A - - C2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45971A>G r.(?) p.(=) Unknown - VUS g.31915564T>C - CFB(NM_001710.5):c.704T>C (p.L235P) - C2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45940C>T r.(?) p.(=) Unknown - VUS g.31915533G>A - CFB(NM_001710.5):c.673G>A (p.D225N) - C2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-45939G>A r.(?) p.(=) Unknown - benign g.31915532C>T g.31947755C>T CFB(NM_001710.5):c.672C>T (p.Y224=) - CFB_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-45939G>A r.(?) p.(=) Unknown - benign g.31915532C>T g.31947755C>T CFB(NM_001710.5):c.672C>T (p.Y224=) - CFB_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45688G>A r.(?) p.(=) Unknown - VUS g.31915281C>T - CFB(NM_001710.5):c.641C>T (p.T214M) - C2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-45647G>A r.(?) p.(=) Unknown - benign g.31915240C>T g.31947463C>T CFB(NM_001710.5):c.600C>T (p.S200=) - CFB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-45647G>A r.(?) p.(=) Unknown - likely benign g.31915240C>T g.31947463C>T CFB(NM_001710.5):c.600C>T (p.S200=) - CFB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45606C>T r.(?) p.(=) Unknown - VUS g.31915199G>A - CFB(NM_001710.6):c.559G>A (p.V187I) - C2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45606C>T r.(?) p.(=) Unknown - VUS g.31915199G>A - CFB(NM_001710.6):c.559G>A (p.V187I) - C2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45558G>T r.(?) p.(=) Unknown - VUS g.31915151C>A - CFB(NM_001710.6):c.511C>A (p.P171T) - C2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-45551C>T r.(?) p.(=) Unknown - benign g.31915144G>A g.31947367G>A CFB(NM_001710.5):c.504G>A (p.P168=) - CFB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-45551C>T r.(?) p.(=) Unknown - benign g.31915144G>A g.31947367G>A CFB(NM_001710.5):c.504G>A (p.P168=) - CFB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-45342T>C r.(?) p.(=) Unknown - benign g.31914935A>G g.31947158A>G - - CFB_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-45297G>A r.(?) p.(=) Unknown - benign g.31914890C>T g.31947113C>T CFB(NM_001710.5):c.405C>T (p.Y135=) - CFB_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-45297G>A r.(?) p.(=) Unknown - benign g.31914890C>T - CFB(NM_001710.5):c.405C>T (p.Y135=) - CFB_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45286A>G r.(?) p.(=) Unknown - VUS g.31914879T>C g.31947102T>C CFB(NM_001710.5):c.394T>C (p.Y132H) - C2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45254T>C r.(?) p.(=) Unknown - VUS g.31914847A>G - CFB(NM_001710.6):c.362A>G (p.Y121C) - C2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-44783C>T r.(?) p.(=) Unknown - likely benign g.31914376G>A - - - C2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-44766T>A r.(?) p.(=) Unknown - likely benign g.31914359A>T - CFB(NM_001710.5):c.274A>T (p.T92S) - C2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-44658G>C r.(?) p.(=) Unknown - likely benign g.31914251C>G - CFB(NM_001710.5):c.166C>G (p.(Gln56Glu)) - C2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-44587C>T r.(?) p.(=) Unknown - benign g.31914180G>A g.31946403G>A CFB(NM_001710.5):c.95G>A (p.R32Q) - CFB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-44587C>T r.(?) p.(=) Unknown - benign g.31914180G>A g.31946403G>A CFB(NM_001710.5):c.95G>A (p.R32Q) - CFB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-44586G>A r.(?) p.(=) Unknown - benign g.31914179C>T g.31946402C>T CFB(NM_001710.5):c.94C>T (p.R32W) - CFB_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-44586G>A r.(?) p.(=) Unknown - VUS g.31914179C>T g.31946402C>T CFB(NM_001710.5):c.94C>T (p.R32W) - CFB_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-44574A>G r.(?) p.(=) Unknown - VUS g.31914167T>C - - - C2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-44431A>T r.(?) p.(=) Unknown - likely benign g.31914024T>A g.31946247T>A CFB(NM_001710.5):c.26T>A (p.(Leu9His), p.L9H), CFB(NM_001710.6):c.26T>A (p.L9H) - CFB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-44431A>T r.(?) p.(=) Unknown - likely benign g.31914024T>A g.31946247T>A CFB(NM_001710.5):c.26T>A (p.(Leu9His), p.L9H), CFB(NM_001710.6):c.26T>A (p.L9H) - CFB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-44431A>T r.(?) p.(=) Unknown - benign g.31914024T>A g.31946247T>A CFB(NM_001710.5):c.26T>A (p.(Leu9His), p.L9H), CFB(NM_001710.6):c.26T>A (p.L9H) - CFB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-44431A>T r.(?) p.(=) Unknown - benign g.31914024T>A g.31946247T>A CFB(NM_001710.5):c.26T>A (p.(Leu9His), p.L9H), CFB(NM_001710.6):c.26T>A (p.L9H) - CFB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-43453G>A r.(?) p.(=) Unknown - VUS g.31913046C>T g.31945269C>T C2(NM_000063.6):c.2171C>T (p.P724L), C2(NM_001282458.1):c.2084C>T (p.P695L) - C2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43453G>A r.(?) p.(=) Unknown - likely benign g.31913046C>T - C2(NM_000063.6):c.2171C>T (p.P724L), C2(NM_001282458.1):c.2084C>T (p.P695L) - C2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-43180T>C r.(?) p.(=) Unknown - benign g.31912773A>G g.31944996A>G C2(NM_001282458.1):c.1959A>G (p.A653=) - C2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-42930A>G r.(?) p.(=) Unknown - benign g.31912523T>C g.31944746T>C C2(NM_000063.4):c.1922T>C (p.V641A) - C2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-42930A>G r.(?) p.(=) Unknown - benign g.31912523T>C - C2(NM_000063.4):c.1922T>C (p.V641A) - C2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-42416C>G r.(?) p.(=) Unknown - benign g.31912009G>C g.31944232G>C C2(NM_000063.4):c.1902+6G>C - C2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-42316A>G r.(?) p.(=) Unknown - VUS g.31911909T>C - - - C2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-41976C>G r.(?) p.(=) Unknown - VUS g.31911569G>C g.31943792G>C C2(NM_001282458.2):c.1629G>C (p.K543N) - C2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-41837T>C r.(?) p.(=) Unknown - likely benign g.31911430A>G - C2(NM_000063.4):c.1577A>G (p.K526R) - C2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-41639C>T r.(?) p.(=) Unknown - likely benign g.31911232G>A g.31943455G>A C2(NM_000063.4):c.1495G>A (p.D499N) - C2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-41638G>A r.(?) p.(=) Unknown - likely benign g.31911231C>T - C2(NM_001282458.1):c.1407C>T (p.S469=) - C2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-41606del r.(?) p.(=) Unknown - likely pathogenic g.31911199del - - - C2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-41462C>T r.(?) p.(=) Unknown - likely benign g.31911055G>A - C2(NM_000063.4):c.1414G>A (p.A472T) - C2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-41437G>A r.(?) p.(=) Unknown - likely benign g.31911030C>T g.31943253C>T C2(NM_001282458.2):c.1302C>T (p.C434=) - C2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-41437G>A r.(?) p.(=) Unknown - VUS g.31911030C>T - C2(NM_001282458.2):c.1302C>T (p.C434=) - C2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-41405T>C r.(?) p.(=) Unknown - likely benign g.31910998A>G g.31943221A>G C2(NM_000063.4):c.1361-4A>G - C2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-41345C>A r.(?) p.(=) Unknown - benign g.31910938G>T g.31943161G>T C2(NM_000063.4):c.1360+62G>T - C2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-41171_-41168del r.(?) p.(=) Unknown - pathogenic g.31910762_31910765del - C2(NM_001282458.1):c.1159_1162delCTGG (p.L387Mfs*7) - C2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-35638G>C r.(?) p.(=) Unknown - VUS g.31905231C>G - C2(NM_001282458.1):c.1037C>G (p.T346R) - C2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-35537C>T r.(?) p.(=) Unknown - benign g.31905130G>A g.31937353G>A - - C2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-34237T>C r.(?) p.(=) Unknown - likely benign g.31903830A>G g.31936053A>G C2(NM_001282458.1):c.893A>G (p.N298S) - C2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-34211C>G r.(?) p.(=) Unknown - benign g.31903804G>C g.31936027G>C C2(NM_000063.4):c.954G>C (p.E318D), C2(NM_001282458.2):c.867G>C (p.E289D) - C2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-34211C>G r.(?) p.(=) Unknown - benign g.31903804G>C g.31936027G>C C2(NM_000063.4):c.954G>C (p.E318D), C2(NM_001282458.2):c.867G>C (p.E289D) - C2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-34211C>G r.(?) p.(=) Unknown - benign g.31903804G>C g.31936027G>C C2(NM_000063.4):c.954G>C (p.E318D), C2(NM_001282458.2):c.867G>C (p.E289D) - C2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-34188C>T r.(?) p.(=) Unknown - likely benign g.31903781G>A - C2(NM_001282458.1):c.844G>A (p.D282N) - C2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-34186T>C r.(?) p.(=) Unknown - likely benign g.31903779A>G g.31936002A>G C2(NM_000063.4):c.929A>G (p.N310S), C2(NM_001282458.1):c.842A>G (p.N281S) - C2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-34186T>C r.(?) p.(=) Unknown - likely benign g.31903779A>G - C2(NM_000063.4):c.929A>G (p.N310S), C2(NM_001282458.1):c.842A>G (p.N281S) - C2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-34100G>A r.(?) p.(=) Unknown - VUS g.31903693C>T - - - C2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-32500_-32473del r.(?) p.(=) Unknown - pathogenic g.31902068_31902095del g.31934291_31934318del C2(NM_000063.4):c.839_849+17delTGGTGGACAGGGTCAGGAATCAGGAGTC, C2(NM_001282459.1):c.841_868delGTGGACAGGGTCAGGAATCAGGAGTCTG (p.V281Pfs*110), C2(NM_00...) - C2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-32500_-32473del r.(?) p.(=) Unknown - pathogenic g.31902068_31902095del g.31934291_31934318del C2(NM_000063.4):c.839_849+17delTGGTGGACAGGGTCAGGAATCAGGAGTC, C2(NM_001282459.1):c.841_868delGTGGACAGGGTCAGGAATCAGGAGTCTG (p.V281Pfs*110), C2(NM_00...) - C2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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