Full data view for gene CIZ1

Information The variants shown are described using the NM_012127.2 transcript reference sequence.

85 entries on 1 page. Showing entries 1 - 85.
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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.-55182T>G r.(?) p.(=) Unknown - likely benign g.131021641A>C g.128259362A>C GOLGA2(NM_004486.4):c.1821T>G (p.(Ser607Arg)) - CIZ1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-54863C>T r.(?) p.(=) Unknown - VUS g.131021322G>A - GOLGA2(NM_004486.6):c.2056C>T (p.R686W) - CIZ1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-53480C>T r.(?) p.(=) Unknown - VUS g.131019939G>A - GOLGA2(NM_004486.6):c.2578C>T (p.R860W) - CIZ1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-52946T>C r.(?) p.(=) Unknown - VUS g.131019405A>G - GOLGA2(NM_004486.6):c.2950T>C (p.C984R) - CIZ1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-50526C>G r.(?) p.(=) Unknown - VUS g.131016985G>C - DNM1(NM_001288739.2):c.2587G>C (p.D863H) - CIZ1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-50521G>C r.(?) p.(=) Unknown - likely benign g.131016980C>G - DNM1(NM_001288739.1):c.2582C>G (p.(Pro861Arg)) - CIZ1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-50507C>G r.(?) p.(=) Unknown - VUS g.131016966G>C - DNM1(NM_001005336.1):c.*49G>C (p.?) - CIZ1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-48929A>G r.(?) p.(=) Unknown - likely benign g.131015388T>C g.128253109T>C DNM1(NM_001288738.1):c.2543T>C (p.I848T) - DNM1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-48918G>C r.(?) p.(=) Unknown - likely benign g.131015377C>G g.128253098C>G DNM1(NM_001005336.3):c.2535-3C>G - DNM1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-46686C>T r.(?) p.(=) Unknown - VUS g.131013145G>A - DNM1(NM_001288738.2):c.2460G>A (p.G820=) - CIZ1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-46646G>C r.(?) p.(=) Unknown - likely benign g.131013105C>G g.128250826C>G - - DNM1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-46641A>C r.(?) p.(=) Unknown - VUS g.131013100T>G g.128250821T>G DNM1(NM_001288738.2):c.2415T>G (p.A805=) - CIZ1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-46177C>T r.(?) p.(=) Unknown - VUS g.131012636G>A - DNM1(NM_004408.4):c.2318+1G>A - CIZ1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-46059G>A r.(?) p.(=) Unknown - VUS g.131012518C>T - DNM1(NM_004408.2):c.2201C>T (p.(Ala734Val)) - CIZ1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-46022C>A r.(?) p.(=) Unknown - VUS g.131012481G>T - DNM1(NM_004408.4):c.2164G>T (p.(Ala722Ser)) - CIZ1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-45996G>A r.(?) p.(=) Unknown - likely benign g.131012455C>T - DNM1(NM_001005336.1):c.2138C>T (p.(Thr713Met)) - CIZ1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-44508C>T r.(?) p.(=) Unknown - VUS g.131010967G>A g.128248688G>A DNM1(NM_001288738.2):c.2011G>A (p.A671T) - CIZ1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-44506A>G r.(?) p.(=) Unknown - VUS g.131010965T>C g.128248686T>C - - DNM1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-44429G>A r.(?) p.(=) Unknown - likely benign g.131010888C>T - DNM1(NM_001288738.1):c.1932C>T (p.S644=) - CIZ1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-43265C>A r.(?) p.(=) Unknown - VUS g.131009724G>T g.128247445G>T - - DNM1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-42284G>C r.(?) p.(=) Unknown - VUS g.131008743C>G - DNM1(NM_001288738.1):c.1742C>G (p.S581W) - CIZ1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-42249G>A r.(?) p.(=) Unknown - likely benign g.131008708C>T g.128246429C>T DNM1(NM_001288738.1):c.1707C>T (p.N569=), DNM1(NM_001288738.2):c.1707C>T (p.N569=) - CIZ1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-42249G>A r.(?) p.(=) Unknown - likely benign g.131008708C>T - DNM1(NM_001288738.1):c.1707C>T (p.N569=), DNM1(NM_001288738.2):c.1707C>T (p.N569=) - CIZ1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-42232T>C r.(?) p.(=) Unknown - VUS g.131008691A>G - - - CIZ1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-38080T>C r.(?) p.(=) Unknown - VUS g.131004539A>G - DNM1(NM_004408.4):c.1586A>G (p.(Asn529Ser)) - CIZ1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-38005C>A r.(?) p.(=) Unknown - likely benign g.131004464G>T - DNM1(NM_004408.4):c.1558-47G>T - CIZ1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-35552G>A r.(?) p.(=) Unknown - likely pathogenic g.131002011C>T g.128239732C>T DNM1(NM_001288739.1):c.1498C>T - DNM1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-35338C>T r.(?) p.(=) Unknown - likely benign g.131001797G>A - DNM1(NM_004408.4):c.1493+3G>A - CIZ1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-29936G>A r.(?) p.(=) Unknown - VUS g.130996395C>T - DNM1(NM_004408.4):c.1422+9C>T - CIZ1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-29934G>T r.(?) p.(=) Unknown - likely benign g.130996393C>A g.128234114C>A DNM1(NM_001005336.1):c.1422+7C>A (p.(=)), DNM1(NM_001288738.2):c.1422+7C>A - CIZ1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-29934G>T r.(?) p.(=) Unknown - likely benign g.130996393C>A - DNM1(NM_001005336.1):c.1422+7C>A (p.(=)), DNM1(NM_001288738.2):c.1422+7C>A - CIZ1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-29883C>G r.(?) p.(=) Unknown - VUS g.130996342G>C g.128234063G>C - - DNM1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-29848T>C r.(?) p.(=) Unknown - likely benign g.130996307A>G - DNM1(NM_004408.2):c.1343A>G (p.(Gln448Arg)) - CIZ1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-21931T>C r.(?) p.(=) Unknown - likely benign g.130988390A>G - DNM1(NM_001288738.1):c.1273A>G (p.(Ile425Val)) - CIZ1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-21847C>T r.(?) p.(=) Unknown - pathogenic g.130988306G>A - - - DNM1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-20135G>A r.(?) p.(=) Unknown - VUS g.130986594C>T - DNM1(NM_001005336.1):c.1261C>T (p.(Arg421*)) - CIZ1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-18421C>T r.(?) p.(=) Unknown - likely benign g.130984880G>A - DNM1(NM_001288738.2):c.1128+5G>A - CIZ1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-18387G>C r.(?) p.(=) Unknown - likely pathogenic g.130984846C>G g.128222567C>G - - CIZ1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-18379C>A r.(?) p.(=) Unknown - VUS g.130984838G>T g.128222559G>T DNM1(NM_001005336.1):c.1091G>T (p.(Arg364Leu)) - CIZ1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-18369G>C r.(?) p.(=) Unknown - likely pathogenic g.130984828C>G g.128222549C>G - - DNM1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-18325C>T r.(?) p.(=) Unknown - likely pathogenic g.130984784G>A g.128222505G>A DNM1(NM_001288738.2):c.1037G>A (p.G346D) - CIZ1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-18296G>A r.(?) p.(=) Unknown - benign g.130984755C>T g.128222476C>T - - CIZ1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-18120C>T r.(?) p.(=) Unknown - VUS g.130984579G>A - DNM1(NM_004408.4):c.953G>A (p.R318H) - CIZ1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-18093T>C r.(?) p.(=) Unknown - VUS g.130984552A>G g.128222273A>G - - CIZ1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-18057C>T r.(?) p.(=) Unknown - likely benign g.130984516G>A - DNM1(NM_001005336.1):c.890G>A (p.(Arg297Gln)) - CIZ1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-16124C>T r.(?) p.(=) Unknown - VUS g.130982583G>A - DNM1(NM_004408.2):c.812G>A (p.(Arg271His)) - CIZ1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-16123G>A r.(?) p.(=) Unknown - likely pathogenic g.130982582C>T g.128220303C>T - - CIZ1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-16108G>A r.(?) p.(=) Unknown - VUS g.130982567C>T - DNM1(NM_004408.4):c.796C>T (p.(Arg266Cys)) - CIZ1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-16087A>G r.(?) p.(=) Unknown - VUS g.130982546T>C - DNM1(NM_001288738.2):c.775T>C (p.F259L) - CIZ1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-16021G>A r.(?) p.(=) Unknown - pathogenic g.130982480C>T - DNM1(NM_001288738.2):c.709C>T (p.R237W) - DNM1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-15817G>A r.(?) p.(=) Unknown - VUS g.130982276C>T g.128219997C>T - - DNM1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-15003C>T r.(?) p.(=) Unknown - VUS g.130981462G>A - DNM1(NM_001288738.2):c.520G>A (p.V174M) - CIZ1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-14933G>C r.(?) p.(=) Unknown - likely benign g.130981392C>G - DNM1(NM_001288738.1):c.450C>G (p.P150=) - CIZ1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-14132G>A r.(?) p.(=) Unknown - likely benign g.130980591C>T - DNM1(NM_001288738.1):c.235+8C>T - CIZ1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-14113T>C r.(?) p.(=) Unknown - likely benign g.130980572A>G - DNM1(NM_004408.4):c.224A>G (p.N75S) - CIZ1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-6+593G>T r.(=) p.(=) Unknown - likely pathogenic g.130965872C>A g.128203593C>A DNM1(NM_001288738.2):c.123C>A (p.S41R) - CIZ1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6+607C>A r.(=) p.(=) Unknown - VUS g.130965858G>T g.128203579G>T - - CIZ1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5-1044C>T r.(=) p.(=) Unknown - VUS g.130954185G>A g.128191906G>A CIZ1(NM_001257975.1):c.34C>T (p.R12C) - CIZ1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5-1033G>T r.(=) p.(=) Unknown - likely benign g.130954174C>A g.128191895C>A CIZ1(NM_001257975.1):c.45G>T (p.A15=), CIZ1(NM_001257975.2):c.45G>T (p.A15=) - CIZ1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5-1033G>T r.(=) p.(=) Unknown - likely benign g.130954174C>A g.128191895C>A CIZ1(NM_001257975.1):c.45G>T (p.A15=), CIZ1(NM_001257975.2):c.45G>T (p.A15=) - CIZ1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5-1009G>A r.(=) p.(=) Unknown - likely benign g.130954150C>T g.128191871C>T CIZ1(NM_001257975.1):c.69G>A (p.P23=) - CIZ1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.100_102dup r.(?) p.(Gln34dup) Unknown - VUS g.130953045_130953047dup g.128190766_128190768dup CIZ1(NM_001257975.2):c.190_192dupCAG (p.Q64dup) - CIZ1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.182C>T r.(?) p.(Pro61Leu) Unknown - likely benign g.130952712G>A g.128190433G>A CIZ1(NM_001257975.1):c.272C>T (p.P91L) - CIZ1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.753T>C r.(?) p.(Pro251=) Unknown - likely benign g.130942732A>G g.128180453A>G CIZ1(NM_001257975.2):c.843T>C (p.P281=) - CIZ1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.795A>C r.(?) p.(Ser265=) Unknown - likely benign g.130941691T>G g.128179412T>G CIZ1(NM_001257975.1):c.885A>C (p.S295=) - CIZ1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.892C>T r.(?) p.(Leu298=) Unknown - likely benign g.130941594G>A - CIZ1(NM_001257975.1):c.982C>T (p.L328=) - CIZ1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.929G>A r.(?) p.(Arg310Gln) Unknown - VUS g.130941557C>T g.128179278C>T CIZ1(NM_001257975.1):c.1019G>A (p.R340Q) - CIZ1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.933C>G r.(?) p.(Phe311Leu) Unknown - likely benign g.130941553G>C g.128179274G>C CIZ1(NM_001131015.1):c.933C>G (p.(Phe311Leu)) - CIZ1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1075A>G r.(?) p.(Lys359Glu) Unknown - likely benign g.130941411T>C g.128179132T>C CIZ1(NM_001257975.2):c.1165A>G (p.K389E) - CIZ1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1109A>G r.(?) p.(Glu370Gly) Unknown - likely benign g.130941377T>C g.128179098T>C CIZ1(NM_001257975.2):c.1199A>G (p.E400G) - CIZ1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1170G>T r.(?) p.(Gln390His) Unknown - likely benign g.130941316C>A g.128179037C>A CIZ1(NM_001257975.1):c.1260G>T (p.Q420H), CIZ1(NM_001257975.2):c.1260G>T (p.Q420H) - CIZ1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1170G>T r.(?) p.(Gln390His) Unknown - likely benign g.130941316C>A g.128179037C>A CIZ1(NM_001257975.1):c.1260G>T (p.Q420H), CIZ1(NM_001257975.2):c.1260G>T (p.Q420H) - CIZ1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1180C>G r.(?) p.(Gln394Glu) Unknown - likely benign g.130941306G>C g.128179027G>C CIZ1(NM_001131016.1):c.1180C>G (p.(Gln394Glu)) - CIZ1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1352C>T r.(?) p.(Ala451Val) Unknown - benign g.130941134G>A g.128178855G>A CIZ1(NM_001257975.1):c.1442C>T (p.A481V) - CIZ1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1365A>G r.(?) p.(Val455=) Unknown - likely benign g.130941121T>C g.128178842T>C CIZ1(NM_001257975.2):c.1455A>G (p.V485=) - CIZ1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1499-6T>C r.(=) p.(=) Unknown - VUS g.130940775A>G - CIZ1(NM_001131016.2):c.1499-6T>C - CIZ1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1944-12_1944-11del r.(=) p.(=) Unknown - benign g.130932398_130932399del g.128170119_128170120del CIZ1(NM_001257975.2):c.2034-12_2034-11delGT - CIZ1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1957A>C r.(=) p.(=) Parent #1 - benign g.130932373T>G g.128170094T>G - - CIZ1_000033 39 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs45611034 Germline - 39/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 39 Mohammed Faruq
-/. - c.1957A>C r.(=) p.(=) Both (homozygous) - benign g.130932373T>G g.128170094T>G - - CIZ1_000033 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs45611034 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.2145+13C>T r.(=) p.(=) Unknown - likely benign g.130931672G>A g.128169393G>A CIZ1(NM_001257975.2):c.2313+13C>T - CIZ1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2205C>T r.(=) p.(=) Parent #1 - benign g.130931421G>A g.128169142G>A - - CIZ1_000032 13 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41276236 Germline - 13/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 13 Mohammed Faruq
?/. - c.2242G>A r.(?) p.(Glu748Lys) Unknown - VUS g.130931384C>T g.128169105C>T CIZ1(NM_001131015.1):c.2074G>A (p.(Glu692Lys)) - CIZ1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2540G>A r.(?) p.(Arg847Gln) Parent #1 - benign g.130928633C>T g.128166354C>T - - CIZ1_000031 51 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11549260 Germline - 51/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 51 Mohammed Faruq
-?/. - c.2562C>T r.(?) p.(Asn854=) Unknown - likely benign g.130928611G>A g.128166332G>A CIZ1(NM_001257975.1):c.2730C>T (p.N910=), CIZ1(NM_001257975.2):c.2730C>T (p.N910=) - C9orf16_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2562C>T r.(?) p.(Asn854=) Unknown - likely benign g.130928611G>A g.128166332G>A CIZ1(NM_001257975.1):c.2730C>T (p.N910=), CIZ1(NM_001257975.2):c.2730C>T (p.N910=) - C9orf16_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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