Full data view for gene KIF7

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

342 entries on 4 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.-24-9_-24-6del r.(=) p.(=) Unknown - likely benign g.90196199_90196202del - KIF7(NM_198525.3):c.-24-9_-24-6del - KIF7_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5T>G r.(?) p.(=) Unknown - benign g.90196166A>C g.89652935A>C KIF7(NM_198525.2):c.-5T>G, KIF7(NM_198525.3):c.-5T>G - KIF7_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5T>G r.(?) p.(=) Unknown - benign g.90196166A>C g.89652935A>C KIF7(NM_198525.2):c.-5T>G, KIF7(NM_198525.3):c.-5T>G - KIF7_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5T>G r.(?) p.(=) Unknown - benign g.90196166A>C g.89652935A>C KIF7(NM_198525.2):c.-5T>G, KIF7(NM_198525.3):c.-5T>G - KIF7_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.16C>T r.(?) p.(Gln6Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.37G>A r.(?) p.(Glu13Lys) Unknown - likely benign g.90196125C>T - KIF7(NM_198525.2):c.37G>A (p.(Glu13Lys)) - KIF7_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.61C>T r.(?) p.(Arg21Ter) Unknown - pathogenic g.90196101G>A g.89652870G>A - - KIF7_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.61C>T r.(?) p.(Arg21*) Parent #1 - pathogenic g.90196101G>A g.89652870G>A - - KIF7_000094 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs794727316 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.62G>A r.(?) p.(Arg21Gln) Unknown ACMG VUS g.90196100C>T g.89652869C>T - - KIF7_000096 ACMG grading: PM2,PP3; macrocephaly (+6 SD), truncal hypotonia, Chiari 1, mild ventricular dilation in brain MRI, large HCs/macrocephaly in maternal side / no second variant in KIF7 detected, CNV analysis negative - - rs935846747 Germline - 1/146574 - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+?/? 2 c.67C>T r.(?) p.(Arg23*) Parent #1 - likely pathogenic g.90174940_90174941del g.89631709_89631710del Arg33X - KIF7_000005 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - ACLS;JBTS12 - PubMed: Putoux 2011 consanguineous family ? yes Turkey - - - - - 1 Tania Attie-Bitach
+?/? 2 c.67C>T r.(?) p.(Arg23*) Parent #2 - likely pathogenic g.90173634G>A - Arg33X - KIF7_000005 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - ACLS;JBTS12 - PubMed: Putoux 2011 consanguineous family ? yes Turkey - - - - - 1 Tania Attie-Bitach
-?/. - c.72A>C r.(?) p.(Pro24=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.96C>T r.(?) p.(His32=) Unknown - likely benign g.90196066G>A g.89652835G>A - - KIF7_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.99G>A r.(?) p.(Gly33=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150C>T r.(?) p.(Gly50=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.154G>A r.(?) p.(Asp52Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.154G>A r.(?) p.(Asp52Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.154G>A r.(?) p.(Asp52Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.154G>A r.(?) p.(Asp52Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.154G>A r.(?) p.(Asp52Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.158G>C r.(?) p.(Arg53Pro) Unknown - VUS g.90196004C>G - KIF7(NM_198525.3):c.158G>C (p.(Arg53Pro)) - KIF7_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.175G>C r.(?) p.(Val59Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.195G>C r.(?) p.(Ala65=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.195G>C r.(?) p.(Ala65=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.195G>C r.(?) p.(Ala65=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.195G>C r.(?) p.(Ala65=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.195G>C r.(?) p.(Ala65=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.216G>A r.(?) p.(Gln72=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.216G>A r.(?) p.(Gln72=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/? 2 c.233_234del r.(?) p.(Leu78Profs*2) Parent #1 - likely pathogenic g.90190209_90190210delinsA - Leu78ProfsX2 - KIF7_000008 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - ACLS;JBTS12 - PubMed: Putoux 2011 consanguineous family ? yes Egypt - - - - - 1 Tania Attie-Bitach
+?/? 2 c.233_234del r.(?) p.(Leu78Profs*2) Parent #2 - likely pathogenic g.90177008T>C - Leu78ProfsX2 - KIF7_000008 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - ACLS;JBTS12 - PubMed: Putoux 2011 consanguineous family ? yes Egypt - - - - - 1 Tania Attie-Bitach
+?/. - c.329-1G>A r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.340G>C r.(?) p.(Glu114Gln) Unknown - VUS g.90193161C>G - KIF7(NM_198525.2):c.340G>C (p.(Glu114Gln)) - KIF7_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.375C>T r.(?) p.(Ala125=) Unknown - likely benign g.90193126G>A - KIF7(NM_198525.2):c.375C>T (p.A125=) - KIF7_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.434A>C r.(?) p.(Tyr145Ser) Unknown - VUS g.90193067T>G g.89649836T>G - - KIF7_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.434A>C r.(?) p.(Tyr145Ser) Both (homozygous) ACMG likely pathogenic g.90193067T>G g.89649836T>G - - KIF7_000092 - PubMed: Tumienė 2018 - - Germline - - - - - DNA SEQ-NG - WES ? 29286531-Pat21 PubMed: Tumienė 2018 - - - (Slovenia) - - - - - 1 Johan den Dunnen
+?/? 3 c.460C>T r.(?) p.(Arg154*) Parent #1 - likely pathogenic g.90174940_90174941del g.89631709_89631710del Arg154X - KIF7_000002 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - ACLS;JBTS12 - PubMed: Putoux 2011 consanguineous family ? yes Turkey - - - - - 1 Tania Attie-Bitach
+?/? 3 c.460C>T r.(?) p.(Arg154*) Parent #2 - likely pathogenic g.90189125T>C - Arg154X - KIF7_000002 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - ACLS;JBTS12 - PubMed: Putoux 2011 consanguineous family ? yes Turkey - - - - - 1 Tania Attie-Bitach
?/. - c.461G>A r.(?) p.(Arg154Gln) Unknown - VUS g.90193040C>T g.89649809C>T KIF7(NM_198525.2):c.461G>A (p.R154Q) - KIF7_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.461G>A r.(?) p.(Arg154Gln) Parent #1 - likely pathogenic g.90193040C>T g.89649809C>T - - KIF7_000080 - PubMed: Srivastava 2014 - - Germline - - - - - DNA SEQ-NG - WES ? Pat78 PubMed: Srivastava 2014 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.505C>T r.(?) p.(Arg169Trp) Unknown - VUS g.90192996G>A g.89649765G>A KIF7(NM_198525.2):c.505C>T (p.R169W, p.(Arg169Trp)) - KIF7_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.505C>T r.(?) p.(Arg169Trp) Unknown - VUS g.90192996G>A - KIF7(NM_198525.2):c.505C>T (p.R169W, p.(Arg169Trp)) - KIF7_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.516G>A r.(?) p.(Glu172=) Unknown - likely benign g.90192985C>T - KIF7(NM_198525.3):c.516G>A (p.E172=) - KIF7_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.530-8G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/? 4 c.587dupT r.(?) p.(Glu197Glyfs*19) Parent #1 - likely pathogenic g.90193041G>A - Glu197GlyfsX19 - KIF7_000007 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - ACLS;JBTS12 - PubMed: Putoux 2011 consanguineous family: ? ? ? Finland - - - - - 1 Tania Attie-Bitach
+?/? 4 c.587dupT r.(?) p.(Glu197Glyfs*19) Parent #2 - likely pathogenic g.90172778G>C - Glu197GlyfsX19 - KIF7_000007 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - ACLS;JBTS12 - PubMed: Putoux 2011 consanguineous family: ? ? ? Finland - - - - - 1 Tania Attie-Bitach
?/. - c.655A>G r.(?) p.(Thr219Ala) Unknown - VUS g.90192473T>C - KIF7(NM_198525.2):c.655A>G (p.T219A) - KIF7_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 4 c.687del r.(?) p.(Arg230Alafs*92) Parent #1 - likely pathogenic g.90193041G>A - Arg230AlafsX92 - KIF7_000006 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - ACLS;JBTS12 - PubMed: Putoux 2011 consanguineous family ? yes Pakistan - - - - - 1 Tania Attie-Bitach
+?/? 4 c.687del r.(?) p.(Arg230Alafs*92) Parent #2 - likely pathogenic g.90177008T>C - Arg230AlafsX92 - KIF7_000006 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - ACLS;JBTS12 - PubMed: Putoux 2011 consanguineous family ? yes Pakistan - - - - - 1 Tania Attie-Bitach
-?/. - c.710G>T r.(?) p.(Arg237Leu) Unknown - likely benign g.90192418C>A - KIF7(NM_198525.3):c.710G>T (p.R237L) - KIF7_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.721G>T r.(?) p.(Gly241Cys) Unknown - VUS g.90192407C>A g.89649176C>A KIF7(NM_198525.2):c.721G>T (p.(Gly241Cys)), KIF7(NM_198525.3):c.721G>T (p.G241C) - KIF7_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.721G>T r.(?) p.(Gly241Cys) Unknown - likely benign g.90192407C>A - KIF7(NM_198525.2):c.721G>T (p.(Gly241Cys)), KIF7(NM_198525.3):c.721G>T (p.G241C) - KIF7_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.773G>A r.(?) p.(Arg258Lys) Unknown - VUS g.90192355C>T - KIF7(NM_198525.3):c.773G>A (p.(Arg258Lys)) - KIF7_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.920C>T r.(?) p.(Thr307Ile) Unknown - VUS g.90192208G>A g.89648977G>A - - KIF7_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.934G>A r.(?) p.(Asp312Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.936C>T r.(?) p.(Asp312=) Unknown - likely benign g.90191993G>A - KIF7(NM_198525.2):c.936C>T (p.D312=) - KIF7_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.952G>A r.(?) p.(Ala318Thr) Unknown - VUS g.90191977C>T - KIF7(NM_198525.3):c.952G>A (p.(Ala318Thr)) - KIF7_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.978C>T r.(?) p.(Val326=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1007C>A r.(?) p.(Thr336Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1015A>C r.(?) p.(Thr339Pro) Unknown - VUS g.90191914T>G g.89648683T>G - - KIF7_000165 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case70559 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
?/. - c.1037C>G r.(?) p.(Ala346Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1062G>A r.(?) p.(Thr354=) Unknown - likely benign g.90191867C>T - KIF7(NM_198525.3):c.1062G>A (p.T354=) - KIF7_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1090C>T r.(?) p.(Pro364Ser) Unknown - VUS g.90191839G>A g.89648608G>A KIF7(NM_198525.2):c.1090C>T (p.P364S, p.(Pro364Ser)) - KIF7_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1090C>T r.(?) p.(Pro364Ser) Unknown - VUS g.90191839G>A - KIF7(NM_198525.2):c.1090C>T (p.P364S, p.(Pro364Ser)) - KIF7_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1102A>G r.(?) p.(Thr368Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1102A>G r.(?) p.(Thr368Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1102A>G r.(?) p.(Thr368Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1102A>G r.(?) p.(Thr368Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1102A>G r.(?) p.(Thr368Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1119G>C r.(?) p.(Arg373=) Unknown - likely benign g.90191810C>G - KIF7(NM_198525.2):c.1119G>C (p.R373=) - KIF7_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1124C>A r.(?) p.(Pro375Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1163G>A r.(?) p.(Gly388Asp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1177G>T r.(?) p.(Gly393Cys) Unknown - likely benign g.90191752C>A g.89648521C>A KIF7(NM_198525.2):c.1177G>T (p.(Gly393Cys)), KIF7(NM_198525.3):c.1177G>T (p.G393C) - KIF7_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1177G>T r.(?) p.(Gly393Cys) Unknown - likely benign g.90191752C>A - KIF7(NM_198525.2):c.1177G>T (p.(Gly393Cys)), KIF7(NM_198525.3):c.1177G>T (p.G393C) - KIF7_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1180C>G r.(?) p.(Pro394Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1189G>A r.(?) p.(Ala397Thr) Unknown - VUS g.90191740C>T g.89648509C>T KIF7(NM_198525.2):c.1189G>A (p.A397T, p.(Ala397Thr)) - KIF7_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1189G>A r.(?) p.(Ala397Thr) Unknown - likely benign g.90191740C>T - KIF7(NM_198525.2):c.1189G>A (p.A397T, p.(Ala397Thr)) - KIF7_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1217G>A r.(?) p.(Gly406Asp) Unknown - VUS g.90191712C>T - KIF7(NM_198525.3):c.1217G>A (p.(Gly406Asp)) - KIF7_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1220C>A r.(?) p.(Ala407Asp) Unknown - VUS g.90191709G>T g.89648478G>T KIF7(NM_198525.2):c.1220C>A (p.(Ala407Asp)) - KIF7_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1221C>T r.(?) p.(Ala407=) Unknown - likely benign g.90191708G>A - KIF7(NM_198525.3):c.1221C>T (p.A407=) - KIF7_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1266C>G r.(?) p.(Leu422=) Unknown - likely benign g.90191663G>C g.89648432G>C KIF7(NM_198525.2):c.1266C>G (p.L422=), KIF7(NM_198525.3):c.1266C>G (p.L422=) - KIF7_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1266C>G r.(?) p.(Leu422=) Unknown - likely benign g.90191663G>C - KIF7(NM_198525.2):c.1266C>G (p.L422=), KIF7(NM_198525.3):c.1266C>G (p.L422=) - KIF7_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1324G>A r.(?) p.(Asp442Asn) Unknown - VUS g.90191605C>T - KIF7(NM_198525.2):c.1324G>A (p.(Asp442Asn)) - KIF7_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1366T>G r.(?) p.(Ser456Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1390A>G r.(?) p.(Ile464Val) Unknown - VUS g.90191539T>C - KIF7(NM_198525.2):c.1390A>G (p.I464V) - KIF7_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1412A>C r.(?) p.(Asp471Ala) Unknown - VUS g.90191517T>G - KIF7(NM_198525.2):c.1412A>C (p.(Asp471Ala)) - KIF7_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1429G>A r.(?) p.(Ala477Thr) Unknown - benign g.90191500C>T g.89648269C>T KIF7(NM_198525.3):c.1429G>A (p.A477T) - KIF7_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1444-4A>G r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1444-4A>G r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1444-4A>G r.spl? p.? Unknown - likely benign g.90190947T>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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1480A>C r.(?) p.(Asn494His) Unknown - likely benign g.90190907T>G - KIF7(NM_198525.2):c.1480A>C (p.(Asn494His)) - KIF7_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1585G>A r.(?) p.(Glu529Lys) Unknown - VUS g.90190264C>T - KIF7(NM_198525.3):c.1585G>A (p.(Glu529Lys)) - KIF7_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1588_1590del r.(?) p.(Glu530del) Unknown - VUS g.90190264_90190266del - KIF7(NM_198525.2):c.1588_1590delGAG (p.(Glu530del)) - KIF7_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1601T>C r.(?) p.(Leu534Pro) Unknown - VUS g.90190248A>G - KIF7(NM_198525.3):c.1601T>C (p.(Leu534Pro)) - KIF7_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1603C>T r.(?) p.(Arg535Trp) Unknown - VUS g.90190246G>A - KIF7(NM_198525.2):c.1603C>T (p.(Arg535Trp)) - KIF7_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 7 c.1639_1640delinsT r.(?) p.(Gly547Serfs*5) Parent #1 - likely pathogenic g.90174940_90174941del g.89631709_89631710del Gly547SerfsX5 - KIF7_000003 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - ACLS;JBTS12 - PubMed: Putoux 2011 consanguineous family ? yes Turkey - - - - - 1 Tania Attie-Bitach
+?/? 7 c.1639_1640delinsT r.(?) p.(Gly547Serfs*5) Parent #2 - likely pathogenic g.90185552A>G - Gly547SerfsX5 - KIF7_000003 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - ACLS;JBTS12 - PubMed: Putoux 2011 consanguineous family ? yes Turkey - - - - - 1 Tania Attie-Bitach
+/. - c.1709dup r.(?) p.(Ala571Cysfs*18) Unknown - pathogenic g.90190145dup - KIF7(NM_198525.2):c.1709dupG (p.A571Cfs*18) - KIF7_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1722T>C r.(?) p.(His574=) Unknown - likely benign g.90190127A>G - KIF7(NM_198525.2):c.1722T>C (p.H574=) - KIF7_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1788+13T>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
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