Full data view for gene KIF5A

Information The variants shown are described using the NM_004984.2 transcript reference sequence.

140 entries on 2 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.-4231G>A r.(?) p.(=) Unknown - VUS g.57939824G>A g.57546041G>A DCTN2(NM_001348065.2):c.221C>T (p.A74V) - DCTN2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3683T>C r.(?) p.(=) Unknown - likely benign g.57940372T>C g.57546589T>C DCTN2(NM_001261412.2):c.36+439A>G - DCTN2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3197G>A r.(?) p.(=) Unknown - likely benign g.57940858G>A g.57547075G>A DCTN2(NM_001261412.2):c.-12C>T - DCTN2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.18C>T r.(?) p.(Asn6=) Unknown - likely benign g.57944072C>T - KIF5A(NM_004984.4):c.18C>T (p.N6=) - DCTN2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.52C>T r.(?) p.(Pro18Ser) Unknown - VUS g.57944106C>T g.57550323C>T KIF5A(NM_004984.4):c.52C>T (p.P18S) - DCTN2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.52C>T r.(?) p.(Pro18Ser) Unknown - VUS g.57944106C>T - KIF5A(NM_004984.4):c.52C>T (p.P18S) - DCTN2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.96_97del r.(?) p.(Ile33Phefs*17) Unknown - pathogenic g.57944150_57944151del g.57550367_57550368del - - KIF5A_000070 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - SPG10 - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
-?/. - c.152G>A r.(?) p.(Arg51His) Unknown - likely benign g.57957244G>A - KIF5A(NM_004984.4):c.152G>A (p.R51H) - KIF5A_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.217+5T>C r.spl? p.? Unknown - likely benign g.57957314T>C g.57563531T>C KIF5A(NM_004984.3):c.217+5T>C - KIF5A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.260A>G r.(?) p.(Gln87Arg) Unknown - VUS g.57957445A>G - KIF5A(NM_004984.4):c.260A>G (p.Q87R) - KIF5A_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.263C>T r.(?) p.(Thr88Ile) Unknown - likely pathogenic g.57957448C>T - KIF5A(NM_004984.4):c.263C>T (p.T88I) - KIF5A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.287T>G r.(?) p.(Met96Arg) Unknown - VUS g.57957472T>G - KIF5A(NM_004984.4):c.287T>G (p.(Met96Arg)) - KIF5A_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.291+5G>A r.spl? p.? Unknown - VUS g.57957481G>A - KIF5A(NM_004984.4):c.291+5G>A - KIF5A_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.292-8_300del r.spl p.? Unknown ACMG likely pathogenic (dominant) g.57957883_57957899del - - - KIF5A_000065 ACMG: PVS1, PM2: class 4 - - - Germline ? - - - - DNA SEQ-NG-I - - SPG10 173622 - - F ? Germany - - - - - 1 Andreas Laner
?/. - c.331C>T r.(?) p.(Arg111*) Unknown - VUS g.57957930C>T - KIF5A(NM_004984.4):c.331C>T (p.(Arg111Ter)) - KIF5A_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.332G>C r.(?) p.(Arg111Pro) Unknown - VUS g.57957931G>C - KIF5A(NM_004984.4):c.332G>C (p.R111P) - KIF5A_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.396G>A r.396_397ins396+1_397-1 p.? Parent #1 - likely pathogenic g.57957995G>A g.57564212G>A - - KIF5A_000003 - PubMed: Neveling 2013, PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - - Unknown ? - - - - DNA SEQ - - SPG10 Pat3mov;Pat13 PubMed: Neveling 2013, PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - F - - - - - - - 1 Marcel Nelen
+?/. - c.396G>A r.(?) p.(Lys132=) Unknown - likely pathogenic g.57957995G>A g.57564212G>A - - KIF5A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.396+14G>A r.(=) p.(=) Unknown - benign g.57958009G>A - KIF5A(NM_004984.4):c.396+14G>A - KIF5A_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.396+14G>A r.(=) p.(=) Unknown - benign g.57958009G>A - KIF5A(NM_004984.4):c.396+14G>A - KIF5A_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.434A>T r.(?) p.(Asp145Val) Unknown - VUS g.57958280A>T - - - KIF5A_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.436_437del r.(?) p.(Leu146SerfsTer25) Unknown - VUS g.57958282_57958283del g.57564499_57564500del - - KIF5A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.471C>T r.(?) p.(His157=) Unknown - likely benign g.57958726C>T - KIF5A(NM_004984.3):c.471C>T (p.H157=) - KIF5A_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.484C>T r.(?) p.(Arg162Trp) Unknown - likely pathogenic g.57958739C>T g.57564956C>T KIF5A(NM_004984.4):c.484C>T (p.R162W) - KIF5A_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.502-7C>T r.(=) p.(=) Unknown - likely benign g.57960902C>T g.57567119C>T KIF5A(NM_004984.3):c.502-7C>T - KIF5A_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.559G>A r.(?) p.(Gly187Arg) Unknown - VUS g.57960966G>A g.57567183G>A - - KIF5A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.575A>T r.(?) p.(His192Leu) Unknown - likely pathogenic g.57960982A>T g.57567199A>T - - KIF5A_000036 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
-?/. - c.589+20G>A r.(=) p.(=) Unknown - likely benign g.57961016G>A g.57567233G>A KIF5A(NM_004984.4):c.589+20G>A - KIF5A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.593T>A r.(?) p.(Met198Lys) Unknown - likely pathogenic g.57961280T>A g.57567497T>A - - KIF5A_000006 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+/. - c.610C>T r.(?) p.(Arg204Trp) Unknown - pathogenic g.57961297C>T g.57567514C>T - - KIF5A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.611G>A r.(?) p.(Arg204Gln) Parent #1 - likely pathogenic g.57961298G>A g.57567515G>A - - KIF5A_000004 - PubMed: Neveling 2013, PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - - Unknown ? - - - - DNA SEQ - - SPG10 Pat1mov;Pat12 PubMed: Neveling 2013, PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - M - - - - - - - 1 Marcel Nelen
+?/. - c.611G>A r.(?) p.(Arg204Gln) Unknown - likely pathogenic g.57961298G>A g.57567515G>A KIF5A(NM_004984.4):c.611G>A (p.R204Q) - KIF5A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.611G>A r.(?) p.(Arg204Gln) Unknown - pathogenic g.57961298G>A g.57567515G>A KIF5A(NM_004984.4):c.611G>A (p.R204Q) - KIF5A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.611G>A r.(?) p.(Arg204Gln) Parent #1 - pathogenic g.57961298G>A g.57567515G>A - - KIF5A_000004 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs387907287 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.614G>A r.(?) p.(Ser205Asn) Unknown - VUS g.57961301G>A g.57567518G>A - - KIF5A_000037 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
?/. - c.689T>C r.(?) p.(Leu230Pro) Unknown - VUS g.57961376T>C g.57567593T>C - - KIF5A_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.714+8G>A r.(=) p.(=) Unknown - likely benign g.57961409G>A g.57567626G>A KIF5A(NM_004984.3):c.714+8G>A, KIF5A(NM_004984.4):c.714+8G>A - KIF5A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.714+8G>A r.(=) p.(=) Unknown - benign g.57961409G>A - KIF5A(NM_004984.3):c.714+8G>A, KIF5A(NM_004984.4):c.714+8G>A - KIF5A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.745C>G r.(?) p.(Leu249Val) Unknown - likely pathogenic g.57962776C>G g.57568993C>G - - KIF5A_000001 - - - - De novo ? - - - - DNA SEQ - - SPG10 - - - - - Greece - - - - - 1 David Lynch
+?/. - c.751G>A r.(?) p.(Glu251Lys) Parent #1 - likely pathogenic g.57962782G>A g.57568999G>A - - KIF5A_000005 - PubMed: Neveling 2013, PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - - Unknown ? - - - - DNA SEQ - - SPG10 Pat2mov;Pat14 PubMed: Neveling 2013, PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - F - - - - - - - 1 Marcel Nelen
+?/. - c.751G>A r.(?) p.(Glu251Lys) Unknown - likely pathogenic g.57962782G>A - - - KIF5A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.768C>A r.(?) p.(Asn256Lys) Unknown - VUS g.57962799C>A - KIF5A(NM_004984.4):c.768C>A (p.N256K) - KIF5A_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.785T>C r.(?) p.(Leu262Pro) Parent #1 ACMG likely pathogenic g.57962816T>C g.57569033T>C - - KIF5A_000035 ACMG pm1, pm2, pp3, pp4 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat9 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - 1 Johan den Dunnen
-/. - c.820-19G>T r.(=) p.(=) Unknown - benign g.57963020G>T g.57569237G>T KIF5A(NM_004984.4):c.820-19G>T - KIF5A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.833C>T r.(?) p.(Pro278Leu) Unknown - likely pathogenic g.57963052C>T g.57569269C>T - - KIF5A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.967C>T r.(?) p.(Arg323Trp) Unknown - VUS g.57963186C>T g.57569403C>T - - KIF5A_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.967C>T r.(?) p.(Arg323Trp) Unknown - likely pathogenic (recessive) g.57963186C>T g.57569403C>T - - KIF5A_000043 ACMG PVS1, PM1, PM2, PP2, PP3 PubMed: Schuermans 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat7 PubMed: Schuermans 2022 analysis 329 adult patients suffering from undiagnosed rare disease M - Belgium - - - - - 1 Johan den Dunnen
?/. - c.968G>A r.(?) p.(Arg323Gln) Unknown - VUS g.57963187G>A g.57569404G>A - - KIF5A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.970G>A r.(?) p.(Ala324Thr) Unknown - VUS g.57963319G>A - KIF5A(NM_004984.2):c.970G>A (p.(Ala324Thr)), KIF5A(NM_004984.4):c.970G>A (p.A324T) - KIF5A_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.970G>A r.(?) p.(Ala324Thr) Unknown - likely benign g.57963319G>A - KIF5A(NM_004984.2):c.970G>A (p.(Ala324Thr)), KIF5A(NM_004984.4):c.970G>A (p.A324T) - KIF5A_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.1022A>G r.(?) p.(Gln341Arg) Unknown ACMG VUS g.57963371A>G g.57569588A>G - - KIF5A_000088 - - - - Unknown - - - - - DNA SEQ-NG Blood - SPG - - - M ? Brazil - - - - - 1 Cynthia Silveira
?/. - c.1033A>G r.(?) p.(Lys345Glu) Unknown - VUS g.57963382A>G - - - KIF5A_000066 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
-?/. - c.1105C>T r.(?) p.(Arg369Trp) Unknown - likely benign g.57963454C>T g.57569671C>T KIF5A(NM_004984.3):c.1105C>T (p.R369W), KIF5A(NM_004984.4):c.1105C>T (p.R369W) - KIF5A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1105C>T r.(?) p.(Arg369Trp) Unknown - likely benign g.57963454C>T g.57569671C>T KIF5A(NM_004984.3):c.1105C>T (p.R369W), KIF5A(NM_004984.4):c.1105C>T (p.R369W) - KIF5A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1105C>T r.(?) p.(Arg369Trp) Unknown - VUS g.57963454C>T g.57569671C>T KIF5A(NM_004984.3):c.1105C>T (p.R369W), KIF5A(NM_004984.4):c.1105C>T (p.R369W) - KIF5A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1105C>T r.(?) p.(Arg369Trp) Unknown - likely benign g.57963454C>T g.57569671C>T KIF5A(NM_004984.3):c.1105C>T (p.R369W), KIF5A(NM_004984.4):c.1105C>T (p.R369W) - KIF5A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1105C>T r.(?) p.(Arg369Trp) Parent #1 - VUS g.57963454C>T g.57569671C>T - - KIF5A_000012 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140929639 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.1106G>A r.(?) p.(Arg369Gln) Unknown - VUS g.57963455G>A g.57569672G>A - - KIF5A_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1106G>T r.(?) p.(Arg369Leu) Unknown - VUS g.57963455G>T g.57569672G>T KIF5A(NM_004984.4):c.1106G>T (p.R369L) - KIF5A_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1107G>C r.(?) p.(Arg369=) Unknown - VUS g.57963456G>C g.57569673G>C KIF5A(NM_004984.4):c.1107G>C (p.R369=) - KIF5A_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1150G>C r.(?) p.(Gly384Arg) Unknown - likely benign g.57963802G>C g.57570019G>C KIF5A(NM_004984.4):c.1150G>C (p.G384R) - KIF5A_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1150G>C r.(?) p.(Gly384Arg) Unknown - likely benign g.57963802G>C - KIF5A(NM_004984.4):c.1150G>C (p.G384R) - KIF5A_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1164C>A r.(?) p.(Ala388=) Unknown - likely benign g.57963816C>A - KIF5A(NM_004984.4):c.1164C>A (p.A388=) - KIF5A_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1165C>T r.(?) p.(Leu389=) Unknown - likely benign g.57963817C>T g.57570034C>T KIF5A(NM_004984.4):c.1165C>T (p.L389=) - KIF5A_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1176G>A r.(?) p.(=) Unknown - benign g.57963828G>A - KIF5A(NM_004984.4):c.1176G>A (p.E392=) - KIF5A_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1222C>T r.(?) p.(Arg408Cys) Unknown - VUS g.57963874C>T g.57570091C>T - - KIF5A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1258_1260del r.(?) p.(Glu420del) Unknown - VUS g.57963910_57963912del g.57570127_57570129del KIF5A(NM_004984.4):c.1258_1260delGAG (p.E420del) - KIF5A_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1264C>T r.(?) p.(Arg422Cys) Unknown - likely benign g.57963916C>T - KIF5A(NM_004984.4):c.1264C>T (p.R422C) - KIF5A_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1293+9G>A r.(=) p.(=) Unknown - benign g.57963954G>A g.57570171G>A KIF5A(NM_004984.3):c.1293+9G>A, KIF5A(NM_004984.4):c.1293+9G>A - KIF5A_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1293+9G>A r.(=) p.(=) Unknown - likely benign g.57963954G>A - KIF5A(NM_004984.3):c.1293+9G>A, KIF5A(NM_004984.4):c.1293+9G>A - KIF5A_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1293+9G>A r.(=) p.(=) Unknown - likely benign g.57963954G>A - KIF5A(NM_004984.3):c.1293+9G>A, KIF5A(NM_004984.4):c.1293+9G>A - KIF5A_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1329dup r.(?) p.(Lys444Glufs*38) Unknown - pathogenic g.57965139dup - KIF5A(NM_004984.3):c.1329dupG (p.K444Efs*38) - KIF5A_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1363C>T r.(?) p.(=) Unknown - VUS g.57965844C>T - KIF5A(NM_004984.2):c.1363C>T (p.(Leu455Leu)) - KIF5A_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1378C>T r.(?) p.(Arg460*) Unknown - pathogenic g.57965859C>T g.57572076C>T - - KIF5A_000024 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+?/. - c.1378C>T r.(?) p.(Arg460Ter) Unknown - likely pathogenic g.57965859C>T - KIF5A(NM_004984.3):c.1378C>T (p.R460*) - KIF5A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1389C>T r.(?) p.(Asn463=) Unknown - likely benign g.57965870C>T - KIF5A(NM_004984.4):c.1389C>T (p.N463=) - KIF5A_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1389C>T r.(?) p.(Asn463=) Unknown - likely benign g.57965870C>T - KIF5A(NM_004984.4):c.1389C>T (p.N463=) - KIF5A_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1402C>T r.(?) p.(Arg468Trp) Unknown - VUS g.57965883C>T - KIF5A(NM_004984.4):c.1402C>T (p.R468W) - KIF5A_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1452G>A r.(?) p.(Val484=) Unknown - likely benign g.57965933G>A g.57572150G>A - - KIF5A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1475_1478del r.(?) p.(Glu492Glyfs*4) Unknown - pathogenic g.57965956_57965959del - KIF5A(NM_004984.4):c.1475_1478delAGGA (p.E492Gfs*4) - KIF5A_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1553A>T r.(?) p.(Glu518Val) Unknown - VUS g.57966034A>T g.57572251A>T KIF5A(NM_004984.4):c.1553A>T (p.E518V) - KIF5A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1553A>T r.(?) p.(Glu518Val) Unknown - VUS g.57966034A>T - KIF5A(NM_004984.4):c.1553A>T (p.E518V) - KIF5A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1569+5G>A r.spl? p.? Unknown - VUS g.57966055G>A - KIF5A(NM_004984.4):c.1569+5G>A - KIF5A_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1569+5G>A r.spl? p.? Unknown - VUS g.57966055G>A - KIF5A(NM_004984.4):c.1569+5G>A - KIF5A_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 15 c.1630C>T r.(?) p.(Arg544*) Unknown ACMG likely pathogenic g.57966423C>T g.57572640C>T - - KIF5A_000089 - - - rs1318854821 Unknown - - - - - DNA SEQ-NG Blood - SPG - - - M ? Brazil - - - - - 1 Cynthia Silveira
+/. - c.1636C>T r.(?) p.(Arg546*) Unknown - pathogenic g.57966429C>T g.57572646C>T - - KIF5A_000058 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
?/. - c.1661T>C r.(?) p.(Leu554Pro) Unknown - VUS g.57966454T>C g.57572671T>C - - KIF5A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1702G>A r.(?) p.(Gly568Arg) Unknown - VUS g.57966495G>A g.57572712G>A - - KIF5A_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1717-283T>C r.(=) p.(=) Unknown - likely benign g.57968584T>C - KIF5A(NM_004984.4):c.1717-283T>C - KIF5A_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1906-3C>T r.spl? p.? Unknown - likely benign g.57969420C>T - KIF5A(NM_004984.4):c.1906-3C>T - KIF5A_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1926G>A r.(?) p.(=) Unknown - likely benign g.57969443G>A - KIF5A(NM_004984.4):c.1926G>A (p.S642=) - KIF5A_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2023+18C>T r.(=) p.(=) Unknown - benign g.57969558C>T g.57575775C>T KIF5A(NM_004984.4):c.2023+18C>T - KIF5A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2037A>C r.(?) p.(Glu679Asp) Unknown - VUS g.57969883A>C g.57576100A>C KIF5A(NM_004984.4):c.2037A>C (p.E679D) - KIF5A_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2040G>A r.(?) p.(Val680=) Unknown - likely benign g.57969886G>A - KIF5A(NM_004984.3):c.2040G>A (p.V680=) - KIF5A_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2122G>T r.(?) p.(Glu708Ter) Unknown - VUS g.57970085G>T g.57576302G>T - - KIF5A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2123A>G r.(?) p.(Glu708Gly) Unknown - VUS g.57970086A>G - - - KIF5A_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2140C>G r.(?) p.(Leu714Val) Unknown - VUS g.57970103C>G g.57576320C>G - - KIF5A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2153G>T r.(?) p.(Arg718Leu) Unknown - VUS g.57970116G>T g.57576333G>T - - KIF5A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2162T>G r.(?) p.(Ile721Ser) Unknown - VUS g.57970125T>G - KIF5A(NM_004984.4):c.2162T>G (p.I721S) - KIF5A_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2162T>G r.(?) p.(Ile721Ser) Unknown - VUS g.57970125T>G - KIF5A(NM_004984.4):c.2162T>G (p.I721S) - KIF5A_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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