Unique variants in the KIF7 gene

Information The variants shown are described using the NM_198525.2 transcript reference sequence.

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

Reported     

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     
-/. 3 - c.-5T>G r.(?) p.(=) - benign g.90196166A>C g.89652935A>C KIF7(NM_198525.2):c.-5T>G - KIF7_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 1 - c.16C>T r.(?) p.(Gln6Ter) - pathogenic g.90196146G>A g.89652915G>A KIF7(NM_198525.2):c.16C>T (p.Q6*) - KIF7_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.61C>T r.(?) p.(Arg21*), p.(Arg21Ter) - pathogenic g.90196101G>A g.89652870G>A - - KIF7_000094 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs794727316 CLASSIFICATION record, Germline - 1/2795 individuals - - - VKGL-NL_Nijmegen, Mohammed Faruq
?/. 1 - c.62G>A r.(?) p.(Arg21Gln) ACMG VUS g.90196100C>T g.89652869C>T - - KIF7_000096 1 more item - - rs935846747 Germline - 1/146574 - - - Andreas Laner
+?/? 2 2 c.67C>T r.(?) p.(Arg23*) - likely pathogenic g.90173634G>A, g.90174940_90174941del g.89631709_89631710del Arg33X - KIF7_000005 1 more item PubMed: Putoux 2011 - - Germline - - - - - Tania Attie-Bitach
-?/. 1 - c.72A>C r.(?) p.(Pro24=) - likely benign g.90196090T>G g.89652859T>G KIF7(NM_198525.2):c.72A>C (p.P24=) - KIF7_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.96C>T r.(?) p.(His32=) - likely benign g.90196066G>A g.89652835G>A - - KIF7_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.99G>A r.(?) p.(Gly33=) - likely benign g.90196063C>T g.89652832C>T KIF7(NM_198525.2):c.99G>A (p.G33=) - KIF7_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.150C>T r.(?) p.(Gly50=) - likely benign g.90196012G>A g.89652781G>A KIF7(NM_198525.2):c.150C>T (p.G50=) - KIF7_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 5 - c.154G>A r.(?) p.(Asp52Asn) - benign g.90196008C>T g.89652777C>T KIF7(NM_198525.2):c.154G>A (p.D52N), KIF7(NM_198525.3):c.154G>A (p.D52N) - KIF7_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.175G>C r.(?) p.(Val59Leu) - likely benign g.90195987C>G g.89652756C>G KIF7(NM_198525.2):c.175G>C (p.(Val59Leu)) - KIF7_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 5 - c.195G>C r.(?) p.(Ala65=) - benign g.90195967C>G g.89652736C>G KIF7(NM_198525.2):c.195G>C (p.A65=), KIF7(NM_198525.3):c.195G>C (p.A65=) - KIF7_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 2 - c.216G>A r.(?) p.(Gln72=) - benign g.90195946C>T g.89652715C>T KIF7(NM_198525.2):c.216G>A (p.Q72=), KIF7(NM_198525.3):c.216G>A (p.Q72=) - KIF7_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+?/? 2 2 c.233_234del r.(?) p.(Leu78Profs*2) - likely pathogenic g.90177008T>C, g.90190209_90190210delinsA - Leu78ProfsX2 - KIF7_000008 1 more item PubMed: Putoux 2011 - - Germline - - - - - Tania Attie-Bitach
+?/. 1 - c.329-1G>A r.spl? p.? - likely pathogenic g.90193173C>T g.89649942C>T KIF7(NM_198525.2):c.329-1G>A - KIF7_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.375C>T r.(?) p.(Ala125=) - likely benign g.90193126G>A - KIF7(NM_198525.2):c.375C>T (p.A125=) - KIF7_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., ?/. 2 3 c.434A>C r.(?) p.(Tyr145Ser) ACMG likely pathogenic, VUS g.90193067T>G g.89649836T>G - - KIF7_000092 VKGL data sharing initiative Nederland PubMed: Tumienė 2018 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+?/? 2 3 c.460C>T r.(?) p.(Arg154*) - likely pathogenic g.90174940_90174941del, g.90189125T>C g.89631709_89631710del Arg154X - KIF7_000002 1 more item PubMed: Putoux 2011 - - Germline - - - - - Tania Attie-Bitach
+?/., ?/. 2 - c.461G>A r.(?) p.(Arg154Gln) - likely pathogenic, VUS g.90193040C>T g.89649809C>T KIF7(NM_198525.2):c.461G>A (p.R154Q) - KIF7_000080 VKGL data sharing initiative Nederland PubMed: Srivastava 2014 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
?/. 1 - c.505C>T r.(?) p.(Arg169Trp) - VUS g.90192996G>A g.89649765G>A KIF7(NM_198525.2):c.505C>T (p.R169W) - KIF7_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.530-8G>A r.(=) p.(=) - likely benign g.90192606C>T g.89649375C>T KIF7(NM_198525.2):c.530-8G>A (p.(=)) - KIF7_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/? 2 4 c.587dupT r.(?) p.(Glu197Glyfs*19) - likely pathogenic g.90172778G>C, g.90193041G>A - Glu197GlyfsX19 - KIF7_000007 1 more item PubMed: Putoux 2011 - - Germline - - - - - Tania Attie-Bitach
?/. 1 - c.655A>G r.(?) p.(Thr219Ala) - VUS g.90192473T>C - KIF7(NM_198525.2):c.655A>G (p.T219A) - KIF7_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/? 2 4 c.687del r.(?) p.(Arg230Alafs*92) - likely pathogenic g.90177008T>C, g.90193041G>A - Arg230AlafsX92 - KIF7_000006 1 more item PubMed: Putoux 2011 - - Germline - - - - - Tania Attie-Bitach
-?/. 1 - c.710G>T r.(?) p.(Arg237Leu) - likely benign g.90192418C>A - KIF7(NM_198525.3):c.710G>T (p.R237L) - KIF7_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.721G>T r.(?) p.(Gly241Cys) - VUS g.90192407C>A g.89649176C>A KIF7(NM_198525.3):c.721G>T (p.G241C) - KIF7_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.920C>T r.(?) p.(Thr307Ile) - VUS g.90192208G>A g.89648977G>A - - KIF7_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.934G>A r.(?) p.(Asp312Asn) - VUS g.90191995C>T g.89648764C>T KIF7(NM_198525.2):c.934G>A (p.(Asp312Asn)) - KIF7_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.978C>T r.(?) p.(Val326=) - likely benign g.90191951G>A g.89648720G>A KIF7(NM_198525.2):c.978C>T (p.V326=) - KIF7_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1007C>A r.(?) p.(Thr336Asn) - VUS g.90191922G>T g.89648691G>T KIF7(NM_198525.2):c.1007C>A (p.(Thr336Asn)) - KIF7_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1015A>C r.(?) p.(Thr339Pro) - VUS g.90191914T>G g.89648683T>G - - KIF7_000165 - PubMed: Tiwari 2016 - - Germline - - - - - LOVD
?/. 1 - c.1037C>G r.(?) p.(Ala346Gly) - VUS g.90191892G>C g.89648661G>C KIF7(NM_198525.2):c.1037C>G (p.A346G) - KIF7_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1090C>T r.(?) p.(Pro364Ser) - VUS g.90191839G>A g.89648608G>A KIF7(NM_198525.2):c.1090C>T (p.P364S) - KIF7_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 5 - c.1102A>G r.(?) p.(Thr368Ala) - benign g.90191827T>C g.89648596T>C KIF7(NM_198525.2):c.1102A>G (p.T368A), KIF7(NM_198525.3):c.1102A>G (p.T368A) - KIF7_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.1119G>C r.(?) p.(Arg373=) - likely benign g.90191810C>G - KIF7(NM_198525.2):c.1119G>C (p.R373=) - KIF7_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1124C>A r.(?) p.(Pro375Gln) - VUS g.90191805G>T g.89648574G>T KIF7(NM_198525.2):c.1124C>A (p.P375Q) - KIF7_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1163G>A r.(?) p.(Gly388Asp) - VUS g.90191766C>T g.89648535C>T KIF7(NM_198525.2):c.1163G>A (p.(Gly388Asp)) - KIF7_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1180C>G r.(?) p.(Pro394Ala) - likely benign g.90191749G>C g.89648518G>C KIF7(NM_198525.2):c.1180C>G (p.(Pro394Ala)) - KIF7_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1189G>A r.(?) p.(Ala397Thr) - VUS g.90191740C>T g.89648509C>T KIF7(NM_198525.2):c.1189G>A (p.A397T) - KIF7_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1220C>A r.(?) p.(Ala407Asp) - likely benign g.90191709G>T g.89648478G>T KIF7(NM_198525.2):c.1220C>A (p.(Ala407Asp)) - KIF7_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1266C>G r.(?) p.(Leu422=) - likely benign g.90191663G>C g.89648432G>C KIF7(NM_198525.2):c.1266C>G (p.L422=) - KIF7_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1324G>A r.(?) p.(Asp442Asn) - VUS g.90191605C>T - KIF7(NM_198525.2):c.1324G>A (p.(Asp442Asn)) - KIF7_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1366T>G r.(?) p.(Ser456Ala) - VUS g.90191563A>C g.89648332A>C KIF7(NM_198525.2):c.1366T>G (p.S456A) - KIF7_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1390A>G r.(?) p.(Ile464Val) - VUS g.90191539T>C - KIF7(NM_198525.2):c.1390A>G (p.I464V) - KIF7_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1429G>A r.(?) p.(Ala477Thr) - benign g.90191500C>T g.89648269C>T KIF7(NM_198525.2):c.1429G>A (p.A477T) - KIF7_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 3 - c.1444-4A>G r.spl? p.? - benign, likely benign g.90190947T>C g.89647716T>C KIF7(NM_198525.2):c.1444-4A>G (, p.?), KIF7(NM_198525.3):c.1444-4A>G - KIF7_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+?/? 2 7 c.1639_1640delinsT r.(?) p.(Gly547Serfs*5) - likely pathogenic g.90174940_90174941del, g.90185552A>G g.89631709_89631710del Gly547SerfsX5 - KIF7_000003 1 more item PubMed: Putoux 2011 - - Germline - - - - - Tania Attie-Bitach
+/. 1 - c.1709dup r.(?) p.(Ala571Cysfs*18) - pathogenic g.90190145dup - KIF7(NM_198525.2):c.1709dupG (p.A571Cfs*18) - KIF7_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1722T>C r.(?) p.(His574=) - likely benign g.90190127A>G - KIF7(NM_198525.2):c.1722T>C (p.H574=) - KIF7_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.1788+13T>C r.(=) p.(=) - benign g.90190048A>G g.89646817A>G KIF7(NM_198525.2):c.1788+13T>C, KIF7(NM_198525.3):c.1788+13T>C - KIF7_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.1789-7C>T r.(=) p.(=) - likely benign g.90189264G>A g.89646033G>A KIF7(NM_198525.2):c.1789-7C>T (p.(=)) - KIF7_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 4 - c.1885G>A r.(?) p.(Glu629Lys) - benign, likely benign g.90189161C>T g.89645930C>T KIF7(NM_198525.2):c.1885G>A (p.E629K, p.(Glu629Lys)), KIF7(NM_198525.3):c.1885G>A (p.E629K) - KIF7_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
+?/?, ?/. 2 8 c.1895C>T r.(?) p.(Pro632Leu) - likely pathogenic, VUS g.90189151G>A, g.90196095G>A g.89645920G>A KIF7(NM_198525.2):c.1895C>T (p.P632L), P632L - KIF7_000001, KIF7_000011 VKGL data sharing initiative Nederland, 1 more item PubMed: Putoux 2011 - - CLASSIFICATION record, Germline - - - - - Tania Attie-Bitach, VKGL-NL_Rotterdam
?/. 1 - c.1918C>T r.(?) p.(Arg640Cys) - VUS g.90189128G>A g.89645897G>A KIF7(NM_198525.2):c.1918C>T (p.(Arg640Cys)) - KIF7_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/? 1 8 c.1921A>G r.(?) p.(Arg641Gly) - likely pathogenic g.90192441del - R641G - KIF7_000013 1 more item PubMed: Putoux 2011 - - Germline - - - - - Tania Attie-Bitach
-?/. 1 - c.1926T>C r.(?) p.(Asn642=) - likely benign g.90188679A>G g.89645448A>G KIF7(NM_198525.2):c.1926T>C (p.N642=) - KIF7_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1968G>A r.(?) p.(Gly656=) - likely benign g.90188637C>T g.89645406C>T KIF7(NM_198525.2):c.1968G>A (p.G656=) - KIF7_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1989C>G r.(?) p.(Gly663=) - likely benign g.90188616G>C g.89645385G>C KIF7(NM_198525.2):c.1989C>G (p.G663=) - KIF7_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 4 - c.2043T>A r.(?) p.(Val681=) - benign g.90188392A>T g.89645161A>T KIF7(NM_198525.2):c.2043T>A (p.V681=), KIF7(NM_198525.3):c.2043T>A (p.V681=) - KIF7_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.2059C>A r.(?) p.(Arg687=) - likely benign g.90188376G>T g.89645145G>T KIF7(NM_198525.2):c.2059C>A (p.R687=) - KIF7_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.2074C>G r.(?) p.(Gln692Glu) - likely benign g.90188361G>C g.89645130G>C KIF7(NM_198525.2):c.2074C>G (p.Q692E, p.(Gln692Glu)) - KIF7_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/., ?/. 2 - c.2077G>T r.(?) p.(Val693Phe) - likely benign, VUS g.90188358C>A g.89645127C>A KIF7(NM_198525.2):c.2077G>T (p.V693F, p.(Val693Phe)) - KIF7_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+?/? 1 10 c.2105G>A r.(?) p.(Arg702Gln) - likely pathogenic g.90196095G>A - R702Q - KIF7_000012 1 more item PubMed: Putoux 2011 - - Germline - - - - - Tania Attie-Bitach
?/. 1 - c.2114A>C r.(?) p.(Gln705Pro) - VUS g.90188321T>G g.89645090T>G - - KIF7_000164 - PubMed: Tiwari 2016 - - Germline - - - - - LOVD
?/. 1 - c.2131C>T r.(?) p.(Arg711Trp) - VUS g.90188304G>A - KIF7(NM_198525.2):c.2131C>T (p.R711W) - KIF7_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.2153G>C r.(?) p.(Arg718Pro) - VUS g.90188282C>G g.89645051C>G KIF7(NM_198525.2):c.2153G>C (p.(Arg718Pro)) - KIF7_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
-?/. 2 - c.2173G>A r.(?) p.(Gly725Ser) - likely benign g.90188262C>T g.89645031C>T KIF7(NM_198525.2):c.2173G>A (p.G725S, p.(Gly725Ser)) - KIF7_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.2186G>A r.(?) p.(Arg729His) - VUS g.90188249C>T g.89645018C>T KIF7(NM_198525.2):c.2186G>A (p.(Arg729His)) - KIF7_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2191+6G>C r.(=) p.(=) - likely benign g.90188238C>G g.89645007C>G KIF7(NM_198525.2):c.2191+6G>C - KIF7_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.2192-13C>T r.(=) p.(=) - benign, likely benign g.90185649G>A g.89642418G>A KIF7(NM_198525.2):c.2192-13C>T, KIF7(NM_198525.3):c.2192-13C>T - KIF7_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.2231G>A r.(?) p.(Arg744His) - likely benign g.90185597C>T g.89642366C>T KIF7(NM_198525.2):c.2231G>A (p.R744H) - KIF7_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.2237G>A r.(?) p.(Arg746Gln) - likely benign g.90185591C>T g.89642360C>T KIF7(NM_198525.2):c.2237G>A (p.R746Q, p.(Arg746Gln)) - KIF7_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.2271C>T r.(?) p.(Ala757=) - likely benign g.90185557G>A g.89642326G>A KIF7(NM_198525.2):c.2271C>T (p.A757=) - KIF7_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/? 1 11 c.2276T>C r.(?) p.(Leu759Pro) - likely pathogenic g.90192441del - L759P - KIF7_000014 1 more item PubMed: Putoux 2011 - - Germline - - - - - Tania Attie-Bitach
?/. 1 - c.2328T>G r.(?) p.(Asp776Glu) - VUS g.90185500A>C g.89642269A>C KIF7(NM_198525.2):c.2328T>G (p.D776E) - KIF7_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2335G>C r.(?) p.(Glu779Gln) - benign g.90185493C>G g.89642262C>G KIF7(NM_198525.2):c.2335G>C (p.E779Q) - KIF7_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2337G>A r.(?) p.(Glu779=) - likely benign g.90185491C>T g.89642260C>T KIF7(NM_198525.2):c.2337G>A (p.E779=) - KIF7_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2421G>C r.(?) p.(Thr807=) - likely benign g.90177088C>G - KIF7(NM_198525.2):c.2421G>C (p.T807=) - KIF7_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2451T>A r.(?) p.(Ser817Arg) - VUS g.90177058A>T - KIF7(NM_198525.2):c.2451T>A (p.S817R) - KIF7_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2453A>G r.(?) p.(Glu818Gly) - VUS g.90177056T>C g.89633825T>C KIF7(NM_198525.2):c.2453A>G (p.E818G) - KIF7_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2459G>A r.(?) p.(Arg820Gln) - VUS g.90177050C>T g.89633819C>T - - KIF7_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2473G>A r.(?) p.(Glu825Lys) - VUS g.90177036C>T g.89633805C>T KIF7(NM_198525.2):c.2473G>A (p.E825K) - KIF7_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2481C>T r.(?) p.(Asn827=) - benign g.90177028G>A g.89633797G>A KIF7(NM_198525.2):c.2481C>T (p.N827=) - KIF7_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., +?/?, -?/., -?/?, ?/. 9 12 c.2501A>G r.(?) p.(Gln834Arg) - likely benign, likely pathogenic, likely pathogenic (recessive), VUS g.90174836G>A, g.90174940_90174941del, g.90177008T>C, g.90195928_90195929del, g.94505604A>C g.89631709_89631710del, g.89633777T>C A2501A>G, KIF7(NM_198525.2):c.2501A>G (p.Q834R), KIF7(NM_198525.3):c.2501A>G (p.Q834R), Q834R - KIF7_000001, KIF7_000010 15 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland, 2 more items PubMed: Bryant 2018, PubMed: Narang 2020, Journal: Narang 2020, PubMed: Putoux 2011 - rs138354681 CLASSIFICATION record, Germline - 15/2795 individuals, 3/384 - - - Tania Attie-Bitach, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, Mohammed Faruq
-?/. 1 - c.2529C>T r.(?) p.(Arg843=) - likely benign g.90176980G>A g.89633749G>A KIF7(NM_198525.2):c.2529C>T (p.R843=) - KIF7_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2536A>T r.(?) p.(Thr846Ser) - likely benign g.90176973T>A - KIF7(NM_198525.2):c.2536A>T (p.T846S) - KIF7_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.2549G>T r.(?) p.(Arg850Leu) - VUS g.90176960C>A g.89633729C>A KIF7(NM_198525.2):c.2549G>T (p.(Arg850Leu)) - KIF7_000050 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs141514601 CLASSIFICATION record, Germline - 1/2795 individuals - - - VKGL-NL_Leiden, Mohammed Faruq
?/. 1 - c.2552G>A r.(?) p.(Arg851His) - VUS g.90176957C>T - KIF7(NM_198525.2):c.2552G>A (p.R851H) - KIF7_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2575C>T r.(?) p.(Arg859Trp) - VUS g.90176934G>A g.89633703G>A NM_198525.2:c.2575C>T - KIF7_000169 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
-/. 2 - c.2592+11C>A r.(=) p.(=) - benign g.90176906G>T g.89633675G>T KIF7(NM_198525.2):c.2592+11C>A - KIF7_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.2602C>T r.(?) p.(Leu868=) - likely benign g.90176488G>A g.89633257G>A KIF7(NM_198525.2):c.2602C>T (p.L868=) - KIF7_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 5 - c.2658A>C r.(?) p.(Ala886=) - benign g.90176432T>G g.89633201T>G KIF7(NM_198525.2):c.2658A>C (p.A886=), KIF7(NM_198525.3):c.2658A>C (p.A886=) - KIF7_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.2689G>A r.(?) p.(Gly897Ser) - VUS g.90176401C>T g.89633170C>T - - KIF7_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2695G>C r.(?) p.(Val899Leu) - VUS g.90176395C>G g.89633164C>G KIF7(NM_198525.2):c.2695G>C (p.V899L) - KIF7_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.2719-28_2719-13dup r.(=) p.(=) - benign g.90176241_90176256dup g.89633010_89633025dup 1 more item - KIF7_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 1 - c.2719-24_2719-13dup r.(=) p.(=) - benign g.90176245_90176256dup g.89633014_89633025dup KIF7(NM_198525.2):c.2719-24_2719-13dupCCCTCCCTCCCT - KIF7_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.2719-20_2719-13dup r.(=) p.(=) - benign g.90176249_90176256dup g.89633018_89633025dup KIF7(NM_198525.2):c.2719-20_2719-13dupCCCTCCCT, KIF7(NM_198525.3):c.2719-20_2719-13dupCCCTCCCT - KIF7_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 1 - c.2719-16_2719-13dup r.(=) p.(=) - benign g.90176253_90176256dup - KIF7(NM_198525.3):c.2719-16_2719-13dupCCCT - KIF7_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.2719-13_2719-12insCCCTCCCTCCCTCCCTCCCT r.(=) p.(=) - benign g.90176256_90176257insGGGAGGGAGGGAGGGAGGGA g.89633025_89633026insGGGAGGGAGGGAGGGAGGGA KIF7(NM_198525.2):c.2719-13_2719-12insCCCTCCCTCCCTCCCTCCCT - KIF7_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2719-13_2719-12insCCCTCCCTCCCTCCCTCCCTCCCT r.(=) p.(=) - benign g.90176256_90176257insGGGAGGGAGGGAGGGAGGGAGGGA g.89633025_89633026insGGGAGGGAGGGAGGGAGGGAGGGA KIF7(NM_198525.2):c.2719-13_2719-12insCCCTCCCTCCCTCCCTCCCTCCCT - KIF7_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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