Full data view for gene KIF1B

Please note that for this gene nearly all data are still in the LMDp database.
This database is one of the gene variant databases from the:
Information The variants shown are described using the NM_015074.3 transcript reference sequence.

181 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.-1071015_*2263355del r.0? p.0? Unknown - likely pathogenic g.9200001_12700000del g.9100001_12500000del CGH array deletion in Cr1p36.22 involving NMNAT1 gene, - MTHFR_000084 am apparent homozygous NMNAT1 mutation was found, probably on the other allele PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 16 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
-?/. - c.-79-18A>T r.(=) p.(=) Unknown - likely benign g.10292290A>T - KIF1B(NM_015074.3):c.-79-18A>T - KIF1B_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5T>C r.(?) p.(=) Unknown - likely benign g.10292382T>C - KIF1B(NM_001365951.3):c.-5T>C - KIF1B_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.20A>T r.(?) p.(Lys7Met) Unknown - VUS g.10292406A>T g.10232348A>T KIF1B(NM_001365951.1):c.20A>T (p.K7M), KIF1B(NM_001365951.3):c.20A>T (p.K7M) - KIF1B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.20A>T r.(?) p.(Lys7Met) Unknown - VUS g.10292406A>T g.10232348A>T KIF1B(NM_001365951.1):c.20A>T (p.K7M), KIF1B(NM_001365951.3):c.20A>T (p.K7M) - KIF1B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.20A>T r.(?) p.(Lys7Met) Unknown - VUS g.10292406A>T - KIF1B(NM_001365951.1):c.20A>T (p.K7M), KIF1B(NM_001365951.3):c.20A>T (p.K7M) - KIF1B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.101C>T r.(?) p.(Ser34Leu) Unknown - VUS g.10292487C>T g.10232429C>T S34L - KIF1B_000002 - PubMed: Schlisio 2008 - - Unknown - - - - - DNA SEQ - - MDB - PubMed: Schlisio 2008 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.107-8T>A r.(=) p.(=) Unknown - likely benign g.10316297T>A g.10256239T>A KIF1B(NM_001365951.1):c.107-8T>A, KIF1B(NM_001365951.3):c.107-8T>A - KIF1B_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.107-8T>A r.(=) p.(=) Unknown - likely benign g.10316297T>A - KIF1B(NM_001365951.1):c.107-8T>A, KIF1B(NM_001365951.3):c.107-8T>A - KIF1B_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.107-8T>A r.(=) p.(=) Unknown - likely benign g.10316297T>A - KIF1B(NM_001365951.1):c.107-8T>A, KIF1B(NM_001365951.3):c.107-8T>A - KIF1B_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.183A>G r.(?) p.(Ser61=) Unknown - likely benign g.10316381A>G - KIF1B(NM_015074.3):c.183A>G (p.S61=) - KIF1B_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.184-6_184-5del r.spl? p.? Unknown - benign g.10318545_10318546del g.10258487_10258488del KIF1B(NM_015074.3):c.184-6_184-5delTT, KIF1B(NM_015074.3):c.184-7_184-6del (p.(=)) - KIF1B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.184-6_184-5del r.spl? p.? Unknown - benign g.10318545_10318546del g.10258487_10258488del KIF1B(NM_015074.3):c.184-6_184-5delTT, KIF1B(NM_015074.3):c.184-7_184-6del (p.(=)) - KIF1B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.184-6_184-5del r.spl? p.? Unknown - VUS g.10318545_10318546del g.10258487_10258488del KIF1B(NM_015074.3):c.184-6_184-5delTT, KIF1B(NM_015074.3):c.184-7_184-6del (p.(=)) - KIF1B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.215G>A r.(?) p.(Arg72His) Unknown - VUS g.10318582G>A g.10258524G>A KIF1B(NM_015074.3):c.215G>A (p.R72H) - KIF1B_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.285C>G r.(?) p.(Ala95=) Unknown - benign g.10318652C>G g.10258594C>G KIF1B(NM_015074.3):c.285C>G (p.A95=) - KIF1B_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.285C>G r.(?) p.(Ala95=) Unknown - benign g.10318652C>G g.10258594C>G KIF1B(NM_015074.3):c.285C>G (p.A95=) - KIF1B_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.293A>T r.(?) p.(Gln98Leu) Parent #1 - pathogenic g.10318660A>T g.10258602A>T - - KIF1B_000006 not in 95 controls, 8 unaffecteds PubMed: Zhao 2001, OMIM:var0001 - rs121908160 Germline yes - - - - DNA SEQ, SSCA - - CMT2 - PubMed: Zhao 2001 4-generation family, 4 affecteds (2F, 2M) F;M no Japan - - - - - 4 Johan den Dunnen
-/. - c.363+6A>C r.(=) p.(=) Unknown - benign g.10318736A>C g.10258678A>C KIF1B(NM_015074.3):c.363+6A>C - KIF1B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.363+319G>A r.(=) p.(=) Unknown - benign g.10319049G>A g.10258991G>A KIF1B(NM_015074.3):c.363+319G>A - KIF1B_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.430-9del r.(=) p.(=) Unknown - likely benign g.10327429del - KIF1B(NM_001365951.3):c.430-9delT - KIF1B_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.608+8dup r.(=) p.(=) Unknown - VUS g.10327624dup g.10267566dup KIF1B(NM_015074.3):c.608+7_608+8insA (p.(=)), KIF1B(NM_015074.3):c.608+8dupA - KIF1B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.608+8dup r.(=) p.(=) Unknown - benign g.10327624dup g.10267566dup KIF1B(NM_015074.3):c.608+7_608+8insA (p.(=)), KIF1B(NM_015074.3):c.608+8dupA - KIF1B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.608+8dup r.(=) p.(=) Unknown - benign g.10327624dup g.10267566dup KIF1B(NM_015074.3):c.608+7_608+8insA (p.(=)), KIF1B(NM_015074.3):c.608+8dupA - KIF1B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.720+17C>T r.(=) p.(=) Unknown - benign g.10328338C>T g.10268280C>T KIF1B(NM_015074.3):c.720+17C>T - KIF1B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.720+17C>T r.(=) p.(=) Unknown - benign g.10328338C>T g.10268280C>T KIF1B(NM_015074.3):c.720+17C>T - KIF1B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.782A>G r.(?) p.(Lys261Arg) Unknown - VUS g.10331621A>G g.10271563A>G KIF1B(NM_015074.3):c.782A>G (p.K261R) - KIF1B_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.864+720A>G r.(=) p.(=) Unknown - VUS g.10333084A>G - - - KIF1B_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.865-171G>A r.(=) p.(=) Unknown - benign g.10335315G>A g.10275257G>A KIF1B(NM_015074.3):c.865-171G>A - KIF1B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.866G>A r.(?) p.(Ser289Asn) Unknown - likely benign g.10335487G>A g.10275429G>A KIF1B(NM_001365951.1):c.884G>A (p.S295N) - KIF1B_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.881A>G r.(?) p.(Lys294Arg) Parent #1 - VUS g.10335502A>G g.10275444A>G - - KIF1B_000090 5 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs373698346 Germline - 5/2693 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
?/. - c.881A>G r.(?) p.(Lys294Arg) Both (homozygous) - VUS g.10335502A>G g.10275444A>G - - KIF1B_000090 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs373698346 Germline - 1/2693 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.940G>A r.(?) p.(Gly314Ser) Unknown - VUS g.10335561G>A g.10275503G>A - - KIF1B_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1162+18C>T r.(=) p.(=) Unknown - benign g.10338204C>T g.10278146C>T KIF1B(NM_015074.3):c.1162+18C>T - KIF1B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1162+1026_1162+1027del r.(=) p.(=) Unknown - benign g.10339212_10339213del g.10279154_10279155del KIF1B(NM_015074.3):c.1162+1026_1162+1027delAT - KIF1B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1163-106C>T r.(=) p.(=) Unknown - benign g.10342352C>T g.10282294C>T KIF1B(NM_015074.3):c.1163-106C>T - KIF1B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1227G>A r.(?) p.(Thr409=) Unknown - benign g.10342522G>A g.10282464G>A KIF1B(NM_015074.3):c.1227G>A (p.T409=) - KIF1B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1296+9T>C r.(=) p.(=) Unknown - likely benign g.10342600T>C g.10282542T>C KIF1B(NM_015074.3):c.1296+9T>C - KIF1B_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1296+38G>A r.(=) p.(=) Unknown - benign g.10342629G>A g.10282571G>A KIF1B(NM_015074.3):c.1296+38G>A - KIF1B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1456C>G r.(?) p.(Pro486Ala) Unknown - VUS g.10355147C>G g.10295089C>G KIF1B(NM_001365951.3):c.1594C>G (p.P532A), KIF1B(NM_015074.3):c.1456C>G (p.P486A) - KIF1B_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1456C>G r.(?) p.(Pro486Ala) Unknown - likely benign g.10355147C>G g.10295089C>G KIF1B(NM_001365951.3):c.1594C>G (p.P532A), KIF1B(NM_015074.3):c.1456C>G (p.P486A) - KIF1B_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1456C>G r.(?) p.(Pro486Ala) Unknown - VUS g.10355147C>G - KIF1B(NM_001365951.3):c.1594C>G (p.P532A), KIF1B(NM_015074.3):c.1456C>G (p.P486A) - KIF1B_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1578C>T r.(?) p.(Ser526=) Unknown - benign g.10355763C>T g.10295705C>T KIF1B(NM_015074.3):c.1578C>T (p.S526=) - KIF1B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1631G>A r.(?) p.(Ser544Asn) Unknown - likely benign g.10355816G>A g.10295758G>A KIF1B(NM_001365951.3):c.1769G>A (p.S590N), KIF1B(NM_015074.3):c.1631G>A (p.S544N) - KIF1B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1631G>A r.(?) p.(Ser544Asn) Unknown - VUS g.10355816G>A - KIF1B(NM_001365951.3):c.1769G>A (p.S590N), KIF1B(NM_015074.3):c.1631G>A (p.S544N) - KIF1B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1633G>A r.(?) p.(Gly545Arg) Unknown - VUS g.10355818G>A g.10295760G>A KIF1B(NM_001365951.3):c.1771G>A (p.G591R), KIF1B(NM_015074.3):c.1633G>A (p.G545R) - KIF1B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1633G>A r.(?) p.(Gly545Arg) Unknown - likely benign g.10355818G>A - KIF1B(NM_001365951.3):c.1771G>A (p.G591R), KIF1B(NM_015074.3):c.1633G>A (p.G545R) - KIF1B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1639+10C>T r.(=) p.(=) Unknown - benign g.10355834C>T g.10295776C>T KIF1B(NM_015074.3):c.1639+10C>T - KIF1B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1639+10C>T r.(=) p.(=) Unknown - benign g.10355834C>T g.10295776C>T KIF1B(NM_015074.3):c.1639+10C>T - KIF1B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1639+10C>T r.(=) p.(=) Unknown - benign g.10355834C>T g.10295776C>T KIF1B(NM_015074.3):c.1639+10C>T - KIF1B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1656G>T r.(?) p.(Glu552Asp) Unknown - VUS g.10356656G>T g.10296598G>T - - KIF1B_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1905-9del r.(=) p.(=) Unknown - benign g.10357223del g.10297165del KIF1B(NM_015074.3):c.1905-9delT - KIF1B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.1937A>T r.(?) p.(Glu646Val) Unknown - pathogenic g.10357264A>T g.10297206A>T - - KIF1B_000004 not in 270 controls PubMed: Schlisio 2008, OMIM:var0002 - - Germline - 1/111 cases - - - DNA SEQ - - neuroblastoma - PubMed: Schlisio 2008 - - - - - - - - - 1 Johan den Dunnen
-/. - c.1977+5919C>T r.(=) p.(=) Unknown - benign g.10363223C>T g.10303165C>T KIF1B(NM_183416.4):c.1980C>T (p.D660=) - KIF1B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+5919C>T r.(=) p.(=) Unknown - likely benign g.10363223C>T - KIF1B(NM_183416.4):c.1980C>T (p.D660=) - KIF1B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1977+5920G>A r.(=) p.(=) Unknown - VUS g.10363224G>A g.10303166G>A KIF1B(NM_183416.4):c.1981G>A (p.A661T) - KIF1B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+5922G>A r.(=) p.(=) Unknown - likely benign g.10363226G>A g.10303168G>A KIF1B(NM_183416.3):c.1983G>A (p.A661=) - KIF1B_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+5934C>T r.(=) p.(=) Unknown - likely benign g.10363238C>T - KIF1B(NM_183416.4):c.1995C>T (p.S665=) - KIF1B_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+5958G>A r.(=) p.(=) Unknown - likely benign g.10363262G>A g.10303204G>A KIF1B(NM_183416.3):c.2019G>A (p.S673=), KIF1B(NM_183416.4):c.2019G>A (p.S673=) - KIF1B_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+5958G>A r.(=) p.(=) Unknown - likely benign g.10363262G>A g.10303204G>A KIF1B(NM_183416.3):c.2019G>A (p.S673=), KIF1B(NM_183416.4):c.2019G>A (p.S673=) - KIF1B_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1977+5977C>G r.(=) p.(=) Unknown - VUS g.10363281C>G g.10303223C>G - - KIF1B_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+6050G>A r.(=) p.(=) Unknown - likely benign g.10363354G>A - KIF1B(NM_183416.4):c.2111G>A (p.S704N) - KIF1B_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1977+6116A>C r.(=) p.(=) Unknown - VUS g.10363420A>C - KIF1B(NM_183416.4):c.2177A>C (p.D726A) - KIF1B_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1977+6183T>C r.(=) p.(=) Unknown - benign g.10363487T>C g.10303429T>C KIF1B(NM_001365953.1):c.2244T>C (p.A748=), KIF1B(NM_183416.4):c.2244T>C (p.A748=) - KIF1B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+6183T>C r.(=) p.(=) Unknown - likely benign g.10363487T>C g.10303429T>C KIF1B(NM_001365953.1):c.2244T>C (p.A748=), KIF1B(NM_183416.4):c.2244T>C (p.A748=) - KIF1B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+6183T>C r.(=) p.(=) Unknown - likely benign g.10363487T>C - KIF1B(NM_001365953.1):c.2244T>C (p.A748=), KIF1B(NM_183416.4):c.2244T>C (p.A748=) - KIF1B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1977+6207G>A r.(=) p.(=) Unknown - benign g.10363511G>A g.10303453G>A KIF1B(NM_183416.4):c.2268G>A (p.R756=) - KIF1B_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1977+6266A>C r.(=) p.(=) Unknown - VUS g.10363570A>C g.10303512A>C KIF1B(NM_183416.4):c.2327A>C (p.K776T) - KIF1B_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1977+6313G>A r.(=) p.(=) Unknown - VUS g.10363617G>A g.10303559G>A KIF1B(NM_183416.4):c.2374G>A (p.V792I) - KIF1B_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+6313G>A r.(=) p.(=) Unknown - likely benign g.10363617G>A - KIF1B(NM_183416.4):c.2374G>A (p.V792I) - KIF1B_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1977+6360G>T r.(=) p.(=) Unknown - benign g.10363664G>T g.10303606G>T KIF1B(NM_183416.3):c.2421G>T (p.(Met807Ile)), KIF1B(NM_183416.4):c.2421G>T (p.M807I) - KIF1B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+6360G>T r.(=) p.(=) Unknown - likely benign g.10363664G>T g.10303606G>T KIF1B(NM_183416.3):c.2421G>T (p.(Met807Ile)), KIF1B(NM_183416.4):c.2421G>T (p.M807I) - KIF1B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+6360G>T r.(=) p.(=) Unknown - likely benign g.10363664G>T g.10303606G>T KIF1B(NM_183416.3):c.2421G>T (p.(Met807Ile)), KIF1B(NM_183416.4):c.2421G>T (p.M807I) - KIF1B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1977+6360G>T r.(=) p.(=) Parent #1 - benign g.10363664G>T g.10303606G>T - - KIF1B_000029 15 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41274458 Germline - 15/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 15 Mohammed Faruq
?/. - c.1977+6449A>G r.(=) p.(=) Unknown - VUS g.10363753A>G g.10303695A>G KIF1B(NM_183416.4):c.2510A>G (p.N837S) - KIF1B_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+6581G>A r.(=) p.(=) Unknown - likely benign g.10363885G>A g.10303827G>A KIF1B(NM_183416.3):c.2642G>A (p.G881D), KIF1B(NM_183416.4):c.2642G>A (p.G881D) - KIF1B_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+6581G>A r.(=) p.(=) Unknown - likely benign g.10363885G>A g.10303827G>A KIF1B(NM_183416.3):c.2642G>A (p.G881D), KIF1B(NM_183416.4):c.2642G>A (p.G881D) - KIF1B_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+6581G>A r.(=) p.(=) Unknown - likely benign g.10363885G>A - KIF1B(NM_183416.3):c.2642G>A (p.G881D), KIF1B(NM_183416.4):c.2642G>A (p.G881D) - KIF1B_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1977+6753A>G r.(=) p.(=) Unknown - benign g.10364057A>G g.10303999A>G KIF1B(NM_183416.4):c.2814A>G (p.T938=) - KIF1B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+6835C>T r.(=) p.(=) Unknown - likely benign g.10364139C>T g.10304081C>T KIF1B(NM_001365953.1):c.2896C>T (p.(Pro966Ser)), KIF1B(NM_183416.4):c.2896C>T (p.P966S) - KIF1B_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+6835C>T r.(=) p.(=) Unknown - likely benign g.10364139C>T - KIF1B(NM_001365953.1):c.2896C>T (p.(Pro966Ser)), KIF1B(NM_183416.4):c.2896C>T (p.P966S) - KIF1B_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+6835C>T r.(=) p.(=) Unknown - likely benign g.10364139C>T - KIF1B(NM_001365953.1):c.2896C>T (p.(Pro966Ser)), KIF1B(NM_183416.4):c.2896C>T (p.P966S) - KIF1B_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1977+6917A>G r.(=) p.(=) Unknown - VUS g.10364221A>G - KIF1B(NM_183416.4):c.2978A>G (p.D993G) - KIF1B_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1977+6956A>G r.(=) p.(=) Unknown - benign g.10364260A>G g.10304202A>G KIF1B(NM_183416.4):c.3017A>G (p.E1006G) - KIF1B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+6956A>G r.(=) p.(=) Unknown - likely benign g.10364260A>G g.10304202A>G KIF1B(NM_183416.4):c.3017A>G (p.E1006G) - KIF1B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1977+7024G>A r.(=) p.(=) Unknown - VUS g.10364328G>A - KIF1B(NM_183416.4):c.3085G>A (p.D1029N) - KIF1B_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+7031T>C r.(=) p.(=) Unknown - likely benign g.10364335T>C g.10304277T>C KIF1B(NM_183416.4):c.3092T>C (p.I1031T) - KIF1B_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1977+7031T>C r.(=) p.(=) Unknown - benign g.10364335T>C - KIF1B(NM_183416.4):c.3092T>C (p.I1031T) - KIF1B_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+7080A>G r.(=) p.(=) Unknown - likely benign g.10364384A>G g.10304326A>G KIF1B(NM_183416.4):c.3141A>G (p.L1047=) - KIF1B_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1977+7081C>T r.(=) p.(=) Unknown - VUS g.10364385C>T g.10304327C>T KIF1B(NM_183416.4):c.3142C>T (p.R1048C) - KIF1B_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+7081C>T r.(=) p.(=) Unknown - likely benign g.10364385C>T - KIF1B(NM_183416.4):c.3142C>T (p.R1048C) - KIF1B_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1977+7114C>T r.(=) p.(=) Unknown - VUS g.10364418C>T - KIF1B(NM_183416.4):c.3175C>T (p.P1059S) - KIF1B_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+7176C>A r.(=) p.(=) Unknown - likely benign g.10364480C>A - KIF1B(NM_183416.3):c.3237C>A (p.(His1079Gln)) - KIF1B_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977+7228C>T r.(=) p.(=) Unknown - likely benign g.10364532C>T - KIF1B(NM_183416.4):c.3289C>T (p.R1097C) - KIF1B_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1977+7373T>C r.(=) p.(=) Unknown - VUS g.10364677T>C g.10304619T>C - - KIF1B_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2071+16C>T r.(=) p.(=) Unknown - likely benign g.10380210C>T - KIF1B(NM_001365951.3):c.2209+16C>T - KIF1B_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2107T>C r.(?) p.(Trp703Arg) Unknown - benign g.10381802T>C g.10321744T>C KIF1B(NM_015074.3):c.2107T>C (p.W703R) - KIF1B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2117G>A r.(?) p.(Arg706Gln) Unknown - VUS g.10381812G>A g.10321754G>A KIF1B(NM_015074.3):c.2117G>A (p.R706Q) - KIF1B_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2192A>G r.(?) p.(Asn731Ser) Unknown - likely benign g.10381887A>G g.10321829A>G KIF1B(NM_001365951.3):c.2330A>G (p.N777S), KIF1B(NM_015074.3):c.2192A>G (p.(Asn731Ser)) - KIF1B_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2192A>G r.(?) p.(Asn731Ser) Parent #1 - likely benign g.10381887A>G g.10321829A>G - - KIF1B_000085 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117525287 Germline - 9/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
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