All variants in the KIF14 gene

Information The variants shown are described using the NM_014875.2 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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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.-115-8dup r.(=) p.(=) - benign g.200587983dup g.200618855dup KIF14(NM_014875.2):c.-115-8dupT, KIF14(NM_014875.3):c.-115-8dupT - KIF14_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-115-8dup r.(=) p.(=) - benign g.200587983dup g.200618855dup KIF14(NM_014875.2):c.-115-8dupT, KIF14(NM_014875.3):c.-115-8dupT - KIF14_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-115-7C>T r.(=) p.(=) - likely benign g.200587973G>A g.200618845G>A KIF14(NM_014875.2):c.-115-7C>T (p.(=)) - KIF14_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-115-2A>T r.spl? p.? - likely benign g.200587968T>A g.200618840T>A KIF14(NM_014875.2):c.-115-2A>T (p.(=)) - KIF14_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.172G>C r.(?) p.(Gly58Arg) - likely benign g.200587680C>G - KIF14(NM_014875.3):c.172G>C (p.G58R) - KIF14_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 c.246del r.(246del) p.(Asn83Ilefs*3) - pathogenic g.200587606del g.200618478del - - KIF14_000002 - - - - Germline yes - - - - Periklis Makrythanasis
-?/. - c.262T>C r.(?) p.(Leu88=) - likely benign g.200587590A>G - KIF14(NM_014875.3):c.262T>C (p.L88=) - KIF14_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.352C>T r.(?) p.(Arg118Cys) - likely benign g.200587500G>A g.200618372G>A KIF14(NM_014875.2):c.352C>T (p.R118C) - KIF14_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.710C>T r.(?) p.(Thr237Met) - VUS g.200587142G>A g.200618014G>A KIF14(NM_014875.2):c.710C>T (p.(Thr237Met)) - KIF14_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.814A>T r.(?) p.(Ser272Cys) - VUS g.200587038T>A - KIF14(NM_014875.2):c.814A>T (p.S272C) - KIF14_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.835A>G r.(?) p.(Thr279Ala) - likely benign g.200587017T>C g.200617889T>C KIF14(NM_014875.2):c.835A>G (p.(Thr279Ala)) - KIF14_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.941A>G r.(?) p.(Lys314Arg) - VUS g.200586911T>C g.200617783T>C KIF14(NM_014875.2):c.941A>G (p.(Lys314Arg)), KIF14(NM_014875.3):c.941A>G (p.K314R) - KIF14_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.941A>G r.(?) p.(Lys314Arg) - likely benign g.200586911T>C - KIF14(NM_014875.2):c.941A>G (p.(Lys314Arg)), KIF14(NM_014875.3):c.941A>G (p.K314R) - KIF14_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.987C>T r.(?) p.(Ser329=) - likely benign g.200586865G>A - KIF14(NM_014875.2):c.987C>T (p.S329=), KIF14(NM_014875.3):c.987C>T (p.S329=) - KIF14_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.987C>T r.(?) p.(Ser329=) - likely benign g.200586865G>A - KIF14(NM_014875.2):c.987C>T (p.S329=), KIF14(NM_014875.3):c.987C>T (p.S329=) - KIF14_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1087G>A r.(?) p.(Val363Ile) - VUS g.200586765C>T - KIF14(NM_014875.2):c.1087G>A (p.V363I), KIF14(NM_014875.3):c.1087G>A (p.V363I) - KIF14_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1087G>A r.(?) p.(Val363Ile) - likely benign g.200586765C>T - KIF14(NM_014875.2):c.1087G>A (p.V363I), KIF14(NM_014875.3):c.1087G>A (p.V363I) - KIF14_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.1090C>T r.(?) p.(Arg364Cys) - VUS g.200586762G>A g.200617634G>A - - KIF14_000040 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
?/. - c.1337A>G r.(?) p.(Tyr446Cys) - VUS g.200584513T>C g.200615385T>C KIF14(NM_014875.2):c.1337A>G (p.(Tyr446Cys)) - KIF14_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 4 c.1375G>A r.(1375g>a) p.(Gly459Arg) - pathogenic g.200583526C>T g.200614398C>T - - KIF14_000003 - - - - Germline yes - - - - Periklis Makrythanasis
?/. - c.1387G>A r.(?) p.(Glu463Lys) - VUS g.200583514C>T g.200614386C>T KIF14(NM_014875.2):c.1387G>A (p.(Glu463Lys)) - KIF14_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1418A>G r.(?) p.(Asp473Gly) - VUS g.200583483T>C g.200614355T>C KIF14(NM_014875.2):c.1418A>G (p.D473G) - KIF14_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1554+10A>C r.(=) p.(=) - likely benign g.200577948T>G - KIF14(NM_014875.3):c.1554+10A>C - KIF14_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1603T>G r.(?) p.(Ser535Ala) - VUS g.200575878A>C g.200606750A>C KIF14(NM_014875.3):c.1603T>G (p.(Ser535Ala)) - KIF14_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1603T>G r.(?) p.(Ser535Ala) - VUS g.200575878A>C - KIF14(NM_014875.3):c.1603T>G (p.(Ser535Ala)) - KIF14_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1658A>G r.(?) p.(Asn553Ser) - likely benign g.200574499T>C - KIF14(NM_014875.2):c.1658A>G (p.N553S), KIF14(NM_014875.3):c.1658A>G (p.N553S) - KIF14_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1658A>G r.(?) p.(Asn553Ser) - VUS g.200574499T>C - KIF14(NM_014875.2):c.1658A>G (p.N553S), KIF14(NM_014875.3):c.1658A>G (p.N553S) - KIF14_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1734G>A r.(?) p.(Met578Ile) - likely benign g.200574423C>T - KIF14(NM_014875.3):c.1734G>A (p.M578I) - KIF14_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 9 c.1750_1751del r.(?) p.(Glu584Ilefs*16) - pathogenic (dominant) g.200573080_200573081del g.200603952_200603953del 1750_1751delGA - KIF14_000018 - PubMed: Filges 2014 - rs786201012 Germline yes - - - - Isabel Filges
+/. - c.1750_1751del r.(?) p.(Glu584Ilefs*16) - pathogenic g.200573080_200573081del g.200603952_200603953del 1750_1751delGA - KIF14_000018 - PubMed: Filges 2014 - - Germline yes - - - - Isabel Filges
+/. 9 c.1780A>T r.(?) p.(Arg594*) - pathogenic (dominant) g.200573050T>A g.200603922T>A - - KIF14_000019 - PubMed: Filges 2014 - rs786201013 Germline yes - - - - Isabel Filges
+/. - c.1780A>T r.(?) p.(Arg594*) - pathogenic g.200573050T>A g.200603922T>A - - KIF14_000019 - PubMed: Filges 2014 - - Germline yes - - - - Isabel Filges
+/. - c.1792C>T r.(?) p.(Arg598Ter) - pathogenic g.200573038G>A g.200603910G>A KIF14(NM_014875.3):c.1792C>T (p.R598*) - KIF14_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1840C>A r.(?) p.(His614Asn) - VUS g.200572990G>T - KIF14(NM_014875.3):c.1840C>A (p.(His614Asn)) - KIF14_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1864-5_1864-2del r.spl? p.? - likely benign g.200572475_200572478del - KIF14(NM_014875.2):c.1864-5_1864-2delTGCA - KIF14_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1980-18T>C r.(=) p.(=) - likely benign g.200571214A>G - KIF14(NM_014875.3):c.1980-18T>C - KIF14_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2168_2173dup r.(?) p.(Ile723_Ala724dup) - VUS g.200569613_200569618dup - KIF14(NM_014875.3):c.2168_2173dup (p.(Ile723_Ala724dup)) - KIF14_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2201G>A r.(?) p.(Arg734Gln) - likely benign g.200569583C>T - KIF14(NM_014875.3):c.2201G>A (p.R734Q) - KIF14_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2233C>A r.(?) p.(Arg745=) - likely benign g.200569551G>T - KIF14(NM_014875.3):c.2233C>A (p.R745=) - KIF14_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2364+6_2364+8del r.(=) p.(=) - likely benign g.200569174_200569176del - KIF14(NM_014875.2):c.2364+6_2364+8delATT - KIF14_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2406C>T r.(?) p.(Asn802=) - likely benign g.200567508G>A g.200598380G>A KIF14(NM_014875.2):c.2406C>T (p.N802=) - KIF14_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 14 c.2522C>T r.(2522c>u) p.(Ser841Phe) - pathogenic g.200567392G>A g.200598264G>A - - KIF14_000001 - - - - Germline - - - - - Periklis Makrythanasis
?/. - c.2783A>C r.(?) p.(Lys928Thr) - VUS g.200561238T>G - KIF14(NM_014875.3):c.2783A>C (p.(Lys928Thr)) - KIF14_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2962-14A>G r.(=) p.(=) - likely benign g.200558511T>C - KIF14(NM_014875.3):c.2962-14A>G - KIF14_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3039G>A r.(?) p.(Lys1013=) - likely benign g.200558420C>T - KIF14(NM_014875.3):c.3039G>A (p.K1013=) - KIF14_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.3082C>T r.(?) p.(Arg1028Ter) - likely pathogenic g.200558377G>A g.200589249G>A - - KIF14_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.3170A>G r.(?) p.(Glu1057Gly) - likely pathogenic g.200555300T>C g.200586172T>C - - KIF14_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.3284A>G r.(?) p.(Gln1095Arg) - VUS g.200550380T>C g.200581252T>C KIF14(NM_014875.2):c.3284A>G (p.(Gln1095Arg)) - KIF14_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3566+3A>G r.spl? p.? - likely benign g.200544716T>C - KIF14(NM_014875.3):c.3566+3A>G - KIF14_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3567-4dup r.spl? p.? - likely benign g.200539142dup - KIF14(NM_014875.2):c.3567-4dupT, KIF14(NM_014875.3):c.3567-4dup - KIF14_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3567-4dup r.spl? p.? - likely benign g.200539142dup - KIF14(NM_014875.2):c.3567-4dupT, KIF14(NM_014875.3):c.3567-4dup - KIF14_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.(3566+1_3567-1)_(4072+1_4073-1)del r.(?) p.(1189Argfs*9) - pathogenic g.? - - - NPHS2_000000 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
-?/. - c.3589A>G r.(?) p.(Arg1197Gly) - likely benign g.200539111T>C - KIF14(NM_014875.3):c.3589A>G (p.R1197G) - KIF14_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3747G>A r.(?) p.(Ser1249=) - likely benign g.200534712C>T - KIF14(NM_014875.3):c.3747G>A (p.S1249=) - KIF14_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.3865G>A r.(?) p.(Asp1289Asn) - VUS g.200534594C>T g.200565466C>T KIF14(NM_014875.2):c.3865G>A (p.(Asp1289Asn)) - KIF14_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.3910C>T r.(?) p.(Gln1304*) - pathogenic g.200534358G>A g.200565230G>A - - KIF14_000039 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
?/. - c.3923T>G r.(?) p.(Ile1308Ser) - VUS g.200534345A>C - KIF14(NM_014875.3):c.3923T>G (p.(Ile1308Ser)) - KIF14_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.4013A>T r.(?) p.(Glu1338Val) - benign g.200534255T>A g.200565127T>A KIF14(NM_014875.2):c.4013A>T (p.E1338V), KIF14(NM_014875.3):c.4013A>T (p.(Glu1338Val)) - KIF14_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4013A>T r.(?) p.(Glu1338Val) - likely benign g.200534255T>A - KIF14(NM_014875.2):c.4013A>T (p.E1338V), KIF14(NM_014875.3):c.4013A>T (p.(Glu1338Val)) - KIF14_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4057C>G r.(?) p.(Gln1353Glu) - VUS g.200534211G>C - KIF14(NM_014875.3):c.4057C>G (p.(Gln1353Glu)) - KIF14_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4078T>C r.(?) p.(Cys1360Arg) - VUS g.200530002A>G g.200560874A>G KIF14(NM_014875.2):c.4078T>C (p.(Cys1360Arg)) - KIF14_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.4155G>A r.(?) p.(Val1385=) - likely benign g.200529925C>T g.200560797C>T KIF14(NM_014875.2):c.4155G>A (p.V1385=) - KIF14_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4231-14A>G r.(=) p.(=) - likely benign g.200528594T>C - KIF14(NM_014875.3):c.4231-14A>G - KIF14_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.4283dup r.(?) p.(Leu1428Phefs*15) - VUS g.200528531dup - KIF14(NM_014875.3):c.4283dup (p.(Leu1428PhefsTer15)) - KIF14_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.4341T>A r.(?) p.(Cys1447*) - pathogenic g.200528470A>T - KIF14(NM_014875.3):c.4341T>A (p.C1447*) - KIF14_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 29 c.4432del r.(4432del) p.(Ser1478Valfs*27) - pathogenic g.200523734del g.200554606del - - KIF14_000004 - - - - Germline yes - - - - Periklis Makrythanasis
-?/. - c.4835G>A r.(?) p.(Gly1612Glu) - likely benign g.200522628C>T g.200553500C>T KIF14(NM_014875.2):c.4835G>A (p.G1612E) - KIF14_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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