Full data view for gene SKIV2L

Information The variants shown are described using the NM_006929.4 transcript reference sequence.

177 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.-12091T>C 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.-12080C>T 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.-12080C>T 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.-12035A>G r.(?) p.(=) Unknown - benign g.31914935A>G g.31947158A>G - - CFB_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-11826G>A 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.-11826G>A 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.-11819C>A 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.-11771G>A 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.-11771G>A 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.-11730C>T 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.-11730C>T 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.-11689C>T 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.-11438C>T 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.-11438C>T 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.-11437G>A 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.-11406T>C 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.-11390G>A r.(?) p.(=) Unknown - benign g.31915580G>A g.31947803G>A - - C2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-11386A>C 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.-11386A>C 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.-11386A>C 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.-11386A>C 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.-11386A>C 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.-11374G>A r.(?) p.(=) Unknown - VUS g.31915596G>A - - - C2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-11356G>A r.(?) p.(=) Unknown - benign g.31915614G>A g.31947837G>A - - CFB_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-11151C>T 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.-11151C>T 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.-11095_-11092del 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.-10957T>C 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.-10739A>C 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.-10702C>T r.(?) p.(=) Unknown - VUS g.31916268C>T - - - C2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10373C>G 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.-10373C>G 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.-10373C>G 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.-10326C>T r.(?) p.(=) Unknown - VUS g.31916644C>T g.31948867C>T - - C2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-10294C>T 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.-10294C>T 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.-10263C>T r.(?) p.(=) Unknown - benign g.31916707C>T g.31948930C>T - - C2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10257C>T 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.-10257C>T 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.-10257C>T 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.-10249T>C 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.-9985T>A 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.-9902G>A r.(?) p.(=) Unknown - VUS g.31917068G>A - - - C2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-9703C>A r.(?) p.(=) Unknown - VUS g.31917267C>A - - - C2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-9679C>T 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.-9679C>T 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.-9670G>A r.(?) p.(=) Unknown - VUS g.31917300G>A - - - C2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-9670G>A r.(?) p.(=) Unknown - VUS g.31917300G>A - - - C2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-9629A>C 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.-9629A>C 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.-9088C>T r.(?) p.(=) Unknown - VUS g.31917882C>T - - - C2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-8890C>T 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.-8890C>T 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.-8890C>T 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.-8866G>A 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.-8816A>G 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.-8816A>G 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.-8816A>G 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.-8506A>G r.(?) p.(=) Unknown - likely benign g.31918464A>G g.31950687A>G - - CFB_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-8502A>C r.(?) p.(=) Unknown - likely benign g.31918468A>C g.31950691A>C CFB(NM_001710.5):c.1697A>C (p.E566A) - CFB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-8502A>C r.(?) p.(=) Unknown - likely benign g.31918468A>C g.31950691A>C CFB(NM_001710.5):c.1697A>C (p.E566A) - CFB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-8494A>C r.(?) p.(=) Unknown - VUS g.31918476A>C g.31950699A>C - - CFB_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-8470G>A r.(?) p.(=) Unknown - VUS g.31918500G>A g.31950723G>A CFB(NM_001710.5):c.1729G>A (p.V577I) - CFB_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-8470G>A r.(?) p.(=) Unknown - VUS g.31918500G>A - CFB(NM_001710.5):c.1729G>A (p.V577I) - CFB_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-8413C>T r.(?) p.(=) Unknown - likely benign g.31918557C>T - - - CFB_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-8412G>A r.(?) p.(=) Unknown - likely benign g.31918558G>A g.31950781G>A CFB(NM_001710.5):c.1778+9G>A - CFB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-8412G>A r.(?) p.(=) Unknown - likely benign g.31918558G>A g.31950781G>A CFB(NM_001710.5):c.1778+9G>A - CFB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-8412G>A r.(?) p.(=) Unknown - likely benign g.31918558G>A - CFB(NM_001710.5):c.1778+9G>A - CFB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-8067C>T r.(?) p.(=) Unknown - benign g.31918903C>T g.31951126C>T - - CFB_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-8027G>A r.(?) p.(=) Unknown - likely benign g.31918943G>A g.31951166G>A CFB(NM_001710.5):c.1878G>A (p.Q626=) - CFB_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-8027G>A r.(?) p.(=) Unknown - likely benign g.31918943G>A - CFB(NM_001710.5):c.1878G>A (p.Q626=) - CFB_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-7984A>T r.(?) p.(=) Unknown - likely benign g.31918986A>T - CFB(NM_001710.5):c.1921A>T (p.T641S) - CFB_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-7952T>G r.(?) p.(=) Unknown - benign g.31919018T>G - CFB(NM_001710.5):c.1953T>G (p.D651E) - CFB_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-7952T>G r.(?) p.(=) Unknown - likely benign g.31919018T>G - CFB(NM_001710.5):c.1953T>G (p.D651E) - CFB_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-7939G>A r.(?) p.(=) Unknown - likely benign g.31919031G>A - CFB(NM_001710.5):c.1956+10G>A - CFB_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-7860C>T r.(?) p.(=) Unknown - likely benign g.31919110C>T g.31951333C>T CFB(NM_001710.5):c.1957-8C>T - CFB_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-7834_-7833del r.(?) p.(=) Unknown - likely pathogenic g.31919136_31919137del - CFB(NM_001710.6):c.1975_1976delGA (p.D659Cfs*8) - CFB_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-7804G>C r.(?) p.(=) Unknown - likely benign g.31919166G>C g.31951389G>C CFB(NM_001710.5):c.2005G>C (p.V669L) - CFB_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-7804G>C r.(?) p.(=) Unknown - VUS g.31919166G>C - CFB(NM_001710.5):c.2005G>C (p.V669L) - CFB_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-7786G>A r.(?) p.(=) Unknown - VUS g.31919184G>A - - - CFB_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-7186G>A r.(?) p.(=) Unknown - likely benign g.31919784G>A g.31952007G>A CFB(NM_001710.5):c.2272G>A (p.D758N) - CFB_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-7140C>T r.(?) p.(=) Unknown - benign g.31919830C>T - - - CFB_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4413G>A r.(?) p.(=) Unknown - likely benign g.31922557G>A - NELFE(NM_002904.6):c.517C>T (p.R173C) - CFB_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.116C>T r.(?) p.(Pro39Leu) Unknown - VUS g.31927167C>T g.31959390C>T SKIV2L(NM_006929.4):c.116C>T (p.P39L), SKIV2L(NM_006929.5):c.116C>T (p.P39L) - SKIV2L_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.116C>T r.(?) p.(Pro39Leu) Unknown - VUS g.31927167C>T - SKIV2L(NM_006929.4):c.116C>T (p.P39L), SKIV2L(NM_006929.5):c.116C>T (p.P39L) - SKIV2L_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.179A>G r.(?) p.(Gln60Arg) Unknown - likely benign g.31927839A>G - SKIV2L(NM_006929.4):c.179A>G (p.Q60R) - SKIV2L_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.235C>T r.(?) p.(Arg79*) Unknown - pathogenic g.31927895C>T - SKIV2L(NM_006929.5):c.235C>T (p.(Arg79*)) - SKIV2L_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.279C>G r.(?) p.(Val93=) Unknown - likely benign g.31928039C>G g.31960262C>G SKIV2L(NM_006929.4):c.279C>G (p.V93=) - SKIV2L_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.353A>G r.(?) p.(Glu118Gly) Unknown - VUS g.31928113A>G - SKIV2L(NM_006929.5):c.353A>G (p.(Glu118Gly)) - SKIV2L_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.354+9T>G r.(=) p.(=) Unknown - likely benign g.31928123T>G - SKIV2L(NM_006929.5):c.354+9T>G - SKIV2L_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.355-10C>T r.(=) p.(=) Unknown - likely benign g.31928199C>T - SKIV2L(NM_006929.4):c.355-10C>T - SKIV2L_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.384T>C r.(?) p.(Ala128=) Unknown - likely benign g.31928238T>C - SKIV2L(NM_006929.5):c.384T>C (p.A128=) - SKIV2L_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.545-19T>C r.(=) p.(=) Unknown - benign g.31928799T>C g.31961022T>C SKIC2(NM_006929.5):c.545-19T>C - SKIV2L_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.640A>C r.(?) p.(Met214Leu) Unknown - benign g.31929014A>C g.31961237A>C SKIC2(NM_006929.5):c.640A>C (p.M214L) - SKIV2L_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.669T>A r.(?) p.(Gly223=) Unknown - likely benign g.31929043T>A g.31961266T>A SKIV2L(NM_006929.4):c.669T>A (p.G223=) - SKIV2L_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.741C>G r.(?) p.(Cys247Trp) Unknown - likely benign g.31929115C>G - SKIV2L(NM_006929.5):c.741C>G (p.C247W) - SKIV2L_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.774A>G r.(?) p.(Glu258=) Unknown - likely benign g.31929148A>G - SKIV2L(NM_006929.5):c.774A>G (p.E258=) - SKIV2L_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.848G>A r.(?) p.(Trp283*) Parent #1 - pathogenic g.31929382G>A g.31961605G>A - - SKIV2L_000004 - PubMed: Fabre 2012 - - Germline - - BtsI- - - DNA SEQ - - THES2 - PubMed: Fabre 2012 - - no France - - - - - 1 Johan den Dunnen
+/. - c.848G>A r.(?) p.(Trp283Ter) Unknown - pathogenic g.31929382G>A g.31961605G>A SKIV2L(NM_006929.5):c.848G>A (p.W283*) - SKIV2L_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.970C>T r.(?) p.(Arg324Trp) Parent #1 - likely benign g.31929737C>T g.31961960C>T - - SKIV2L_000012 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs36038685 Germline - 3/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
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