Full data view for gene KIF5B

Information The variants shown are described using the NM_004521.2 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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.208G>A r.(?) p.(Val70Ile) Unknown - VUS g.32337398C>T - KIF5B(NM_004521.3):c.208G>A (p.(Val70Ile)) - KIF5B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.214+8T>C r.(=) p.(=) Unknown - likely benign g.32337384A>G - KIF5B(NM_004521.3):c.214+8T>C - KIF5B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.260C>T r.(?) p.(Thr87Ile) Unknown - pathogenic (dominant) g.32329340G>A g.32040412G>A - - KIF5B_000013 - PubMed: Marom 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES OI Pat1 PubMed: Marom 2023 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.260C>T r.(?) p.(Thr87Ile) Unknown - pathogenic (dominant) g.32329340G>A g.32040412G>A - - KIF5B_000013 - PubMed: Marom 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES OI Pat2 PubMed: Marom 2023 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.269G>C r.(?) p.(Gly90Ala) Unknown - pathogenic (dominant) g.32329331C>G g.32040403C>G - - KIF5B_000012 - PubMed: Marom 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES OI Pat3 PubMed: Marom 2023 2-generation family, 1 affected fetus (terminated pregnancy), unaffected non carrier parents F - - - <0d - - - 1 Johan den Dunnen
+?/. - c.272A>G r.(272a>g) p.(Lys91Arg) Unknown ACMG likely pathogenic g.32329328T>C g.32040400T>C - - KIF5B_000004 - PubMed: Itai 2022 - - De novo - - - - - DNA ? - - dysplasia, bone Pat3 PubMed: Itai 2022 2-generation family, 1 affected, unaffected non carrier parents F - Japan - - - - - 1 Toshiyuki Itai
+?/. - c.272A>G r.(272a>g) p.(Lys91Arg) Unknown ACMG likely pathogenic g.32329328T>C g.32040400T>C - - KIF5B_000004 - PubMed: Itai 2022 - - De novo - - - - - DNA ? - - dysplasia, bone Pat4 PubMed: Itai 2022 2-generation family, 1 affected, unaffected non carrier parents M - Japan - - - - - 1 Toshiyuki Itai
?/. - c.467A>G r.(?) p.(His156Arg) Unknown - VUS g.32327122T>C - KIF5B(NM_004521.3):c.467A>G (p.H156R) - KIF5B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.572A>T r.(?) p.(His191Leu) Unknown - VUS g.32326462T>A g.32037534T>A KIF5B(NM_004521.2):c.572A>T (p.(His191Leu)) - KIF5B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.584C>A r.(584c>a) p.(Thr195Lys) Unknown ACMG likely pathogenic g.32326450G>T g.32037522G>T - - KIF5B_000002 - PubMed: Itai 2022 - - De novo - - - - - DNA SEQ-NG - - dysplasia, bone Pat1 PubMed: Itai 2022 2-generation family, 1 affected, unaffected non carrier parents F - Japan - - - - - 1 Toshiyuki Itai
+/. - c.584C>A r.(?) p.(Thr195Lys) Unknown - pathogenic (dominant) g.32326450G>T g.32037522G>T - - KIF5B_000002 - PubMed: Marom 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES OI Pat4 PubMed: Marom 2023 3-generation family, 1 affected fetus (terminated pregnancy), unaffected non carrier parents M - - - <0d - - - 1 Johan den Dunnen
+?/. - c.701G>T r.(?) p.(Gly234Val) Unknown ACMG likely pathogenic g.32326192C>A g.32037264C>A - - KIF5B_000003 - PubMed: Itai 2022 - - De novo - - - - - DNA SEQ-NG - - dysplasia, bone Pat2 PubMed: Itai 2022 2-generation family, 1 affected, unaffected non carrier parents F - Japan - - - - - 1 Toshiyuki Itai
-?/. - c.712-4A>G r.spl? p.? Unknown - likely benign g.32324926T>C - KIF5B(NM_004521.3):c.712-4A>G - KIF5B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.765_767del r.(?) p.(Asn255del) Paternal (confirmed) - pathogenic (dominant) g.32324870_32324872del g.32035942_32035944del 765_767delCAA - KIF5B_000011 - PubMed: Flex 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat2 PubMed: Flex 2023 2-generation family, affected son/father M - - - - - - - 1 Johan den Dunnen
?/. - c.1160T>G r.(?) p.(Leu387Trp) Unknown - VUS g.32322918A>C - KIF5B(NM_004521.3):c.1160T>G (p.(Leu387Trp)) - KIF5B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1460_1462del r.(?) p.(Glu487del) Unknown - VUS g.32320126_32320128del - KIF5B(NM_004521.3):c.1460_1462del (p.(Glu487del)) - KIF5B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1493T>C r.(?) p.(Leu498Pro) Unknown - pathogenic (dominant) g.32320089A>G g.32031161A>G - - KIF5B_000010 - PubMed: Flex 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ? Pat3 PubMed: Flex 2023 2-generation family, 1 affected fetus (terminated pregnancy), unaffected non carrier parents F - - Europe - - - - 1 Johan den Dunnen
-?/. - c.1580C>T r.(?) p.(Ser527Leu) Unknown - likely benign g.32320002G>A - KIF5B(NM_004521.3):c.1580C>T (p.(Ser527Leu), p.S527L) - KIF5B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1580C>T r.(?) p.(Ser527Leu) Unknown - likely benign g.32320002G>A - KIF5B(NM_004521.3):c.1580C>T (p.(Ser527Leu), p.S527L) - KIF5B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1610T>C r.(?) p.(Leu537Pro) Unknown - pathogenic (dominant) g.32317471A>G g.32028543A>G - - KIF5B_000009 - PubMed: Flex 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat1 PubMed: Flex 2023 2-generation family, 1 affected, unaffected non carrier parents M - Italy - - - - - 1 Johan den Dunnen
?/. - c.1859A>C r.(?) p.(Lys620Thr) Unknown - VUS g.32311831T>G - KIF5B(NM_004521.3):c.1859A>C (p.(Lys620Thr)) - KIF5B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2252A>G r.(?) p.(His751Arg) Both (homozygous) - VUS g.32308840T>C g.32019912T>C - - KIF5B_000019 ACMG PM2, PP1, PP3; candidate disease gene PubMed: Charng 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam015PatBAB6712 PubMed: Charng 2016 2-generation family, affected brothers, unaffected heterozygous carrier parents M yes Saudi Arabia - - - - - 2 Johan den Dunnen
-?/. - c.2306C>T r.(?) p.(Thr769Met) Unknown - likely benign g.32308786G>A - KIF5B(NM_004521.3):c.2306C>T (p.(Thr769Met)) - KIF5B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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