All variants in the SKIV2L gene

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

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. - c.-12091T>C r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-/. - c.-12080C>T r.(?) p.(=) - benign g.31914890C>T g.31947113C>T - - CFB_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.-12035A>G r.(?) p.(=) - benign g.31914935A>G g.31947158A>G - - CFB_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.-11826G>A r.(?) p.(=) - 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 - - - 0 - VKGL-NL_Utrecht
-/. - c.-11826G>A r.(?) p.(=) - 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 - - - 0 - VKGL-NL_Nijmegen
-/. - c.-11730C>T r.(?) p.(=) - 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 - - - 0 - VKGL-NL_Utrecht
-?/. - c.-11730C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Nijmegen
?/. - c.-11689C>T r.(?) p.(=) - VUS g.31915281C>T - CFB(NM_001710.5):c.641C>T (p.T214M) - C2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-11438C>T r.(?) p.(=) - 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 - - - 0 - VKGL-NL_Utrecht
-/. - c.-11438C>T r.(?) p.(=) - 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 - - - 0 - VKGL-NL_Nijmegen
?/. - c.-11437G>A r.(?) p.(=) - VUS g.31915533G>A - CFB(NM_001710.5):c.673G>A (p.D225N) - C2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-11390G>A r.(?) p.(=) - benign g.31915580G>A g.31947803G>A - - C2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-11386A>C r.(?) p.(=) - likely benign g.31915584A>C g.31947807A>C CFB(NM_001710.5):c.724A>C (p.I242L) - C2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-11386A>C r.(?) p.(=) - VUS g.31915584A>C g.31947807A>C CFB(NM_001710.5):c.724A>C (p.I242L) - C2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-11386A>C r.(?) p.(=) - likely benign g.31915584A>C - CFB(NM_001710.5):c.724A>C (p.I242L) - C2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.-11356G>A r.(?) p.(=) - benign g.31915614G>A g.31947837G>A - - CFB_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.-11151C>T r.(?) p.(=) - benign g.31915819C>T g.31948042C>T - - C2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-10957T>C r.(?) p.(=) - benign g.31916013T>C g.31948236T>C CFB(NM_001710.5):c.898-138T>C - CFB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.-10739A>C r.(?) p.(=) - likely benign g.31916231A>C - CFB(NM_001710.5):c.978A>C (p.E326D) - C2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-10373C>G r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.-10373C>G r.(?) p.(=) - VUS g.31916597C>G g.31948820C>G CFB(NM_001710.5):c.1037-10C>G - C2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-10326C>T r.(?) p.(=) - VUS g.31916644C>T g.31948867C>T - - C2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-10294C>T r.(?) p.(=) - VUS g.31916676C>T - - - C2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-10263C>T r.(?) p.(=) - benign g.31916707C>T g.31948930C>T - - C2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-10257C>T r.(?) p.(=) - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-10257C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Nijmegen
-?/. - c.-10257C>T r.(?) p.(=) - likely benign g.31916713C>T - CFB(NM_001710.5):c.1143C>T (p.R381=) - CFB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.-9985T>A r.(?) p.(=) - benign g.31916985T>A g.31949208T>A CFB(NM_001710.5):c.1169-35T>A - CFB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.-9679C>T r.(?) p.(=) - 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 - - - 0 - VKGL-NL_Utrecht
-/. - c.-9679C>T r.(?) p.(=) - 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 - - - 0 - VKGL-NL_Nijmegen
-?/. - c.-9629A>C r.(?) p.(=) - likely benign g.31917341A>C g.31949564A>C - - C2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-9088C>T r.(?) p.(=) - VUS g.31917882C>T - - - C2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-8890C>T r.(?) p.(=) - 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 - - - 0 - VKGL-NL_Utrecht
-?/. - c.-8890C>T r.(?) p.(=) - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-8890C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Nijmegen
?/. - c.-8816A>G r.(?) p.(=) - VUS g.31918154A>G g.31950377A>G CFB(NM_001710.5):c.1598A>G (p.K533R) - C2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-8816A>G r.(?) p.(=) - likely benign g.31918154A>G g.31950377A>G CFB(NM_001710.5):c.1598A>G (p.K533R) - C2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.-8816A>G r.(?) p.(=) - VUS g.31918154A>G - CFB(NM_001710.5):c.1598A>G (p.K533R) - C2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.-8506A>G r.(?) p.(=) - likely benign g.31918464A>G g.31950687A>G - - CFB_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-8502A>C r.(?) p.(=) - 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 - - - 0 - VKGL-NL_Utrecht
?/. - c.-8494A>C r.(?) p.(=) - VUS g.31918476A>C g.31950699A>C - - CFB_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.-8470G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.-8412G>A r.(?) p.(=) - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-8412G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Nijmegen
-?/. - c.-8412G>A r.(?) p.(=) - likely benign g.31918558G>A - CFB(NM_001710.5):c.1778+9G>A - CFB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.-8067C>T r.(?) p.(=) - benign g.31918903C>T g.31951126C>T - - CFB_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.-8027G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.-7984A>T r.(?) p.(=) - likely benign g.31918986A>T - CFB(NM_001710.5):c.1921A>T (p.T641S) - CFB_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-7939G>A r.(?) p.(=) - likely benign g.31919031G>A - CFB(NM_001710.5):c.1956+10G>A - CFB_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-7860C>T r.(?) p.(=) - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-7804G>C r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.-7186G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Utrecht
-?/. - c.-4413G>A r.(?) p.(=) - likely benign g.31922557G>A - NELFE(NM_002904.6):c.517C>T (p.R173C) - CFB_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.116C>T r.(?) p.(Pro39Leu) - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - c.116C>T r.(?) p.(Pro39Leu) - 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 - - - - - VKGL-NL_Utrecht
-?/. - c.179A>G r.(?) p.(Gln60Arg) - likely benign g.31927839A>G - SKIV2L(NM_006929.4):c.179A>G (p.Q60R) - SKIV2L_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.279C>G r.(?) p.(Val93=) - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.355-10C>T r.(=) p.(=) - likely benign g.31928199C>T - SKIV2L(NM_006929.4):c.355-10C>T - SKIV2L_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.384T>C r.(?) p.(Ala128=) - likely benign g.31928238T>C - SKIV2L(NM_006929.5):c.384T>C (p.A128=) - SKIV2L_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.545-19T>C r.(=) p.(=) - benign g.31928799T>C g.31961022T>C SKIV2L(NM_006929.5):c.545-19T>C - SKIV2L_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.640A>C r.(?) p.(Met214Leu) - benign g.31929014A>C g.31961237A>C SKIV2L(NM_006929.5):c.640A>C (p.M214L) - SKIV2L_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.669T>A r.(?) p.(Gly223=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.774A>G r.(?) p.(Glu258=) - likely benign g.31929148A>G - SKIV2L(NM_006929.5):c.774A>G (p.E258=) - SKIV2L_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 9 c.848G>A r.(?) p.(Trp283*) - pathogenic g.31929382G>A g.31961605G>A - - SKIV2L_000004 - PubMed: Fabre 2012 - - Germline - - BtsI- 0 - Johan den Dunnen
+/. - c.848G>A r.(?) p.(Trp283Ter) - 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 - - - 0 - VKGL-NL_Utrecht
-?/. - c.970C>T r.(?) p.(Arg324Trp) - 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 - 0 - Mohammed Faruq
-?/. - c.990C>T r.(?) p.(Val330=) - likely benign g.31929757C>T g.31961980C>T SKIV2L(NM_006929.4):c.990C>T (p.V330=) - SKIV2L_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.991G>A r.(?) p.(Ala331Thr) - VUS g.31929758G>A g.31961981G>A SKIV2L(NM_006929.4):c.991G>A (p.A331T) - SKIV2L_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1020T>C r.(?) p.(Val340=) - likely benign g.31929787T>C g.31962010T>C SKIV2L(NM_006929.4):c.1020T>C (p.V340=) - SKIV2L_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 10 c.1022T>G r.(?) p.(Val341Gly) - pathogenic g.31929789T>G g.31962012T>G - - SKIV2L_000005 - PubMed: Fabre 2012 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1041C>T r.(=) p.(=) - likely benign g.31929808C>T g.31962031C>T - - SKIV2L_000034 226 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35664695 Germline - 226/2795 individuals - 0 - Mohammed Faruq
-?/. - c.1041C>T r.(=) p.(=) - likely benign g.31929808C>T g.31962031C>T - - SKIV2L_000034 8 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35664695 Germline - 8/2795 individuals - 0 - Mohammed Faruq
+?/. - c.1061C>T r.(?) p.(Thr354Ile) - likely pathogenic g.31929828C>T g.31962051C>T SKIV2L(NM_006929.5):c.1061C>T (p.T354I) - SKIV2L_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1094_1102del r.(?) p.(Leu365_Asn367del) - VUS g.31930245_31930253del - SKIV2L(NM_006929.4):c.1094_1102delTGAGCAACC (p.L365_N367del) - SKIV2L_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1167G>T r.(?) p.(Leu389=) - likely benign g.31930318G>T g.31962541G>T SKIV2L(NM_006929.4):c.1167G>T (p.L389=) - SKIV2L_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1172C>T r.(?) p.(Pro391Leu) - VUS g.31930323C>T - SKIV2L(NM_006929.4):c.1172C>T (p.P391L) - SKIV2L_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1173G>A r.(?) p.(Pro391=) - likely benign g.31930324G>A g.31962547G>A SKIV2L(NM_006929.4):c.1173G>A (p.P391=) - SKIV2L_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1200A>G r.(=) p.(=) - likely benign g.31930351A>G g.31962574A>G - - SKIV2L_000035 176 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2734331 Germline - 176/2795 individuals - 0 - Mohammed Faruq
-?/. - c.1200A>G r.(=) p.(=) - likely benign g.31930351A>G g.31962574A>G - - SKIV2L_000035 5 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2734331 Germline - 5/2795 individuals - 0 - Mohammed Faruq
?/. - c.1216A>G r.(?) p.(Met406Val) - VUS g.31930495A>G g.31962718A>G SKIV2L(NM_006929.5):c.1216A>G (p.M406V) - SKIV2L_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1287C>T r.(?) p.(Asn429=) - likely benign g.31930566C>T g.31962789C>T SKIV2L(NM_006929.4):c.1287C>T (p.N429=) - SKIV2L_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 14 c.1434del r.(?) p.(Ser479Alafs*3) - pathogenic g.31931220del g.31963443del - - SKIV2L_000008 - PubMed: Fabre 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1528C>T r.(?) p.(Arg510Ter) - pathogenic g.31931314C>T g.31963537C>T SKIV2L(NM_006929.5):c.1528C>T (p.R510*) - SKIV2L_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 11 c.1635_1636insA r.(?) p.(Gly546Argfs*35) - pathogenic g.31931498_31931499insA g.31963721_31963722insA - - SKIV2L_000001 - PubMed: Fabre 2012 - - Germline - - MnlI+; ApaI- 0 - Johan den Dunnen
-?/. - c.1705G>A r.(?) p.(Val569Met) - likely benign g.31931747G>A g.31963970G>A SKIV2L(NM_006929.4):c.1705G>A (p.V569M), SKIV2L(NM_006929.5):c.1705G>A (p.V569M) - SKIV2L_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1705G>A r.(?) p.(Val569Met) - likely benign g.31931747G>A g.31963970G>A SKIV2L(NM_006929.4):c.1705G>A (p.V569M), SKIV2L(NM_006929.5):c.1705G>A (p.V569M) - SKIV2L_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1705G>A r.(?) p.(Val569Met) - VUS g.31931747G>A g.31963970G>A - - SKIV2L_000031 22 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs144147284 Germline - 22/2795 individuals - 0 - Mohammed Faruq
-?/. - c.1791G>A r.(?) p.(Lys597=) - likely benign g.31931833G>A - SKIV2L(NM_006929.4):c.1791G>A (p.K597=) - SKIV2L_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1816C>T r.(?) p.(Arg606Cys) - VUS g.31931858C>T - SKIV2L(NM_006929.4):c.1816C>T (p.R606C) - SKIV2L_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1860+17_1860+26del r.(=) p.(=) - likely benign g.31931919_31931928del g.31964142_31964151del SKIV2L(NM_006929.4):c.1860+17_1860+26delCTGTGTGCGT - SKIV2L_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1971+4C>G r.spl? p.? - likely benign g.31932123C>G g.31964346C>G SKIV2L(NM_006929.4):c.1971+4C>G - SKIV2L_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2145T>C r.(?) p.(Val715=) - likely benign g.31933733T>C g.31965956T>C SKIV2L(NM_006929.5):c.2145T>C (p.V715=) - DOM3Z_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2147T>C r.(?) p.(Ile716Thr) - VUS g.31933735T>C g.31965958T>C SKIV2L(NM_006929.4):c.2147T>C (p.I716T) - DOM3Z_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2165G>A r.(?) p.(Arg722Gln) - VUS g.31933753G>A g.31965976G>A SKIV2L(NM_006929.4):c.2165G>A (p.R722Q) - DOM3Z_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2192G>A r.(?) p.(Arg731His) - VUS g.31933780G>A - SKIV2L(NM_006929.5):c.2192G>A (p.R731H) - DOM3Z_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2203-12A>G r.(=) p.(=) - likely benign g.31934474A>G g.31966697A>G SKIV2L(NM_006929.5):c.2203-12A>G - DOM3Z_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 19 c.2266C>T r.(?) p.(Arg756*) - pathogenic g.31934549C>T g.31966772C>T - - SKIV2L_000002 - PubMed: Fabre 2012 - - Germline - - TseI- 0 - Johan den Dunnen
-?/. - c.2373G>C r.(?) p.(Lys791Asn) - likely benign g.31934813G>C - SKIV2L(NM_006929.4):c.2373G>C (p.K791N) - DOM3Z_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2401A>G r.(?) p.(Met801Val) - likely benign g.31934841A>G g.31967064A>G SKIV2L(NM_006929.4):c.2401A>G (p.M801V) - DOM3Z_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 20 c.2442G>A r.(?) p.(Trp814*) - pathogenic g.31934882G>A g.31967105G>A - - SKIV2L_000003 - PubMed: Fabre 2012 - - Germline - - MnlI+; BseYI- 0 - Johan den Dunnen
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