Full data view for gene KIF1A

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

541 entries on 6 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.(?_-22556)_(*3600_?)del r.0? p.0? Unknown - likely pathogenic g.(?_241653181)_(241759725_?)del - - - KIF1A_000175 - PubMed: Pennings 2019, Journal: Pennings 2019 - - De novo ? - - - - DNA PCR - - SPG - - - M ? - - 01y - - - 1 Maartje Pennings
-?/. - c.-20020G>A r.(?) p.(=) Unknown - likely benign g.241757189C>T - KIF1A(NM_001244008.2):c.-61+2350G>A - KIF1A_000313 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-15211T>C r.(?) p.(=) Unknown - likely benign g.241752380A>G - KIF1A(NM_001244008.2):c.-61+7159T>C - KIF1A_000349 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-15172T>A r.(?) p.(=) Unknown - VUS g.241752341A>T - KIF1A(NM_001244008.2):c.-61+7198T>A - KIF1A_000312 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-13G>A r.(?) p.(=) Unknown - likely benign g.241737182C>T g.240797765C>T KIF1A(NM_001244008.2):c.-13G>A - KIF1A_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.31C>T r.(?) p.(Arg11Trp) Unknown - VUS g.241737139G>A g.240797722G>A KIF1A(NM_001244008.1):c.31C>T (p.R11W) - KIF1A_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.31C>T r.(?) p.(Arg11Trp) Unknown - pathogenic g.241737139G>A - KIF1A(NM_001244008.1):c.31C>T (p.R11W) - KIF1A_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.37C>T r.(?) p.(Arg13Cys) Unknown - pathogenic g.241737133G>A g.240797716G>A - - KIF1A_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.37C>T r.(?) p.(Arg13Cys) Unknown ACMG likely pathogenic g.241737133G>A g.240797716G>A g.22593C>T - KIF1A_000160 - - - - De novo - - - - - DNA SEQ-NG-IT - - SPG30 - - - M no Russian Federation - - - - - 1 Varvara Kadnikova
?/. - c.38G>A r.(?) p.(Arg13His) Unknown - VUS g.241737132C>T g.240797715C>T - - KIF1A_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.89T>C r.(?) p.(Met30Thr) Unknown - VUS g.241737081A>G g.240797664A>G - - KIF1A_000164 - PubMed: Pennings 2019, Journal: Pennings 2019 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - SPG - PubMed: Pennings 2019, Journal: Pennings 2019 - M no - - - - - - 1 Maartje Pennings
?/. - c.89T>C r.(?) p.(Met30Thr) Unknown - VUS g.241737081A>G g.240797664A>G - - KIF1A_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. i c.106+24C>T r.(=) p.(=) Unknown - likely benign g.241737040G>A g.240797623G>A - - KIF1A_000037 - PubMed: Hamdan 2011 - - Germline - 2/285 controls - - - DNA SEQ - - Healthy/Control - PubMed: Hamdan 2011 285 controls - - Canada French - - - - 285 Johan den Dunnen
-?/. i c.106+24C>T r.(=) p.(=) Unknown - likely benign g.241737040G>A g.240797623G>A - - KIF1A_000037 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 50 cases - - Canada French - - - - 50 Johan den Dunnen
-?/. i c.106+35A>G r.(=) p.(=) Unknown - likely benign g.241737029T>C g.240797612T>C - - KIF1A_000031 - PubMed: Hamdan 2011 - - Germline - 1/285 controls - - - DNA SEQ - - Healthy/Control - PubMed: Hamdan 2011 285 controls - - Canada French - - - - 285 Johan den Dunnen
-?/. i c.106+35A>G r.(=) p.(=) Unknown - likely benign g.241737029T>C g.240797612T>C - - KIF1A_000031 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 50 cases - - Canada French - - - - 50 Johan den Dunnen
?/. - c.110T>C r.(?) p.(Ile37Thr) Unknown - VUS g.241728726A>G g.240789309A>G KIF1A(NM_001244008.1):c.110T>C (p.I37T), KIF1A(NM_001244008.2):c.110T>C (p.I37T) - KIF1A_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.110T>C r.(?) p.(Ile37Thr) Unknown - VUS g.241728726A>G - KIF1A(NM_001244008.1):c.110T>C (p.I37T), KIF1A(NM_001244008.2):c.110T>C (p.I37T) - KIF1A_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.131A>G r.(?) p.(Lys44Arg) Unknown - VUS g.241728705T>C - KIF1A(NM_001244008.1):c.131A>G (p.(Lys44Arg)) - KIF1A_000332 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.138G>A r.(?) p.(Thr46=) Unknown - likely benign g.241728698C>T g.240789281C>T - - KIF1A_000030 - PubMed: Hamdan 2011 - - Germline - 1/285 controls - - - DNA SEQ - - Healthy/Control - PubMed: Hamdan 2011 285 controls - - Canada French - - - - 285 Johan den Dunnen
-?/. - c.138G>A r.(?) p.(Thr46=) Parent #1 - likely benign g.241728698C>T g.240789281C>T - - KIF1A_000030 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 50 cases - - Canada French - - - - 50 Johan den Dunnen
?/. - c.164C>A r.(?) p.(Ser55Tyr) Unknown - VUS g.241728672G>T - - - KIF1A_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.167A>G r.(?) p.(Tyr56Cys) Unknown - VUS g.241728669T>C g.240789252T>C - - KIF1A_000165 - PubMed: Pennings 2019, Journal: Pennings 2019 - - Germline/De novo (untested) - Pennings et al, submitted 2019 - - - DNA SEQ-NG - - SPG - PubMed: Pennings 2019, Journal: Pennings 2019 - M - - - - - - - 1 Maartje Pennings
+/. - c.173C>T r.(?) p.(Ser58Leu) Unknown - pathogenic g.241728663G>A g.240789246G>A KIF1A(NM_001244008.2):c.173C>T (p.S58L) - KIF1A_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.173C>T r.(?) p.(Ser58Leu) Unknown - pathogenic g.241728663G>A - KIF1A(NM_001244008.2):c.173C>T (p.S58L) - KIF1A_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.183+15C>T r.(=) p.(=) Unknown - benign g.241728638G>A g.240789221G>A KIF1A(NM_001244008.2):c.183+15C>T - KIF1A_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.202G>A r.(?) p.(Ala68Thr) Unknown - likely benign g.241727629C>T g.240788212C>T KIF1A(NM_001244008.1):c.202G>A (p.(Ala68Thr)) - KIF1A_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.203C>T r.(?) p.(Ala68Val) Unknown - VUS g.241727628G>A g.240788211G>A - - KIF1A_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.204G>T r.(?) p.(Ala68=) Unknown - likely benign g.241727627C>A g.240788210C>A - - KIF1A_000045 - PubMed: Hamdan 2011 - - Germline - 3/285 controls - - - DNA SEQ - - Healthy/Control - PubMed: Hamdan 2011 285 controls - - Canada French - - - - 285 Johan den Dunnen
-?/. - c.204G>T r.(?) p.(Ala68=) Unknown - likely benign g.241727627C>A g.240788210C>A - - KIF1A_000045 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 50 cases - - Canada French - - - - 50 Johan den Dunnen
-?/. - c.204G>T r.(?) p.(Ala68=) Unknown - likely benign g.241727627C>A g.240788210C>A KIF1A(NM_001244008.1):c.204G>T (p.A68=), KIF1A(NM_001244008.2):c.204G>T (p.A68=) - KIF1A_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.204G>T r.(?) p.(Ala68=) Unknown - likely benign g.241727627C>A g.240788210C>A KIF1A(NM_001244008.1):c.204G>T (p.A68=), KIF1A(NM_001244008.2):c.204G>T (p.A68=) - KIF1A_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.206C>T r.(?) p.(Ser69Leu) Maternal (confirmed) - VUS g.241727625G>A g.240788208G>A - - KIF1A_000176 - PubMed: Pennings 2019, Journal: Pennings 2019 - - Germline yes - - - - DNA PCR - - SPG - - - F no Netherlands - - - - - 1 Maartje Pennings
+?/. - c.206C>T r.(?) p.(Ser69Leu) Unknown - likely pathogenic g.241727625G>A g.240788208G>A KIF1A(NM_001244008.2):c.206C>T (p.S69L) - KIF1A_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.219G>A r.(?) p.(Val73=) Unknown - VUS g.241727612C>T g.240788195C>T - - KIF1A_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.221A>G r.(?) p.(Tyr74Cys) Unknown - VUS g.241727610T>C g.240788193T>C - - KIF1A_000077 - PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - - Germline - - - - - DNA SEQ-NG - - SPG30 Pat22 PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - M - - - - - - - 1 Erik-Jan Kamsteeg
+?/. 4 c.221A>G r.(?) p.(Tyr74Cys) Maternal (confirmed) - VUS g.241727610T>C g.240788193T>C - - KIF1A_000077 - PubMed: Pennings 2019, Journal: Pennings 2019 - - Germline - - - - - DNA SEQ-NG - - SPG - PubMed: Pennings 2019, Journal: Pennings 2019 - M no - - - - - - 1 Maartje Pennings
+/. - c.223C>T r.(?) p.(Arg75Trp) Unknown - pathogenic g.241727608G>A g.240788191G>A KIF1A(NM_001244008.1):c.223C>T (p.(Arg75Trp)) - KIF1A_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.232G>A r.(?) p.(Gly78Ser) Unknown - VUS g.241727599C>T g.240788182C>T - - KIF1A_000169 - PubMed: Pennings 2019, Journal: Pennings 2019 - - De novo - - - - - DNA SEQ-NG - - SPG - PubMed: Pennings 2019, Journal: Pennings 2019 - M no - - - - - - 1 Maartje Pennings
-/. - c.234C>T r.(?) p.(Gly78=) Unknown - benign g.241727597G>A g.240788180G>A KIF1A(NM_001244008.2):c.234C>T (p.G78=) - KIF1A_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.296C>T r.(?) p.(Thr99Met) Unknown - pathogenic g.241727535G>A g.240788118G>A - - KIF1A_000004 - PubMed: Hamdan 2011 - - De novo yes - - - - DNA SEQ - - ID - PubMed: Hamdan 2011 - F ? Canada - >03y05m - - - 1 Johan den Dunnen
+/. 4 c.296C>T r.(?) p.Thr99Met Unknown - NA g.241727535G>A g.240788118G>A - - KIF1A_000004 expression cloning EGFP-tagged motor domain KIF1A-constructs in cultured hippocampal neurons, show greatly reduced distal localization and increased accumulation throughout cell body/proximal neurites PubMed: Hamdan 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.304G>A r.(?) p.(Gly102Ser) Unknown - likely pathogenic g.241727527C>T g.240788110C>T KIF1A(NM_001244008.1):c.304G>A (p.G102S) - KIF1A_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.317C>A r.(?) p.(Thr106Asn) Unknown - likely pathogenic g.241727514G>T g.240788097G>T - - KIF1A_000168 - PubMed: Pennings 2019, Journal: Pennings 2019 - - De novo yes - - - - DNA SEQ-NG - - SPG - PubMed: Pennings 2019, Journal: Pennings 2019 - M no Netherlands - - - - - 1 Maartje Pennings
+/. - c.317C>A r.(?) p.(Thr106Asn) Unknown - pathogenic g.241727514G>T g.240788097G>T - - KIF1A_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.363+7A>G r.(=) p.(=) Unknown - likely benign g.241727461T>C g.240788044T>C KIF1A(NM_001244008.1):c.363+7A>G (p.(=)) - KIF1A_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.363+7A>G r.(=) p.(=) Unknown - likely benign g.241727461T>C g.240788044T>C KIF1A(NM_001244008.1):c.363+7A>G (p.(=)) - KIF1A_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. i c.363+16C>T r.(=) p.(=) Unknown - likely benign g.241727452G>A g.240788035G>A - - KIF1A_000029 - PubMed: Hamdan 2011 - rs7594569 Germline - 1/285 controls - - - DNA SEQ - - Healthy/Control - PubMed: Hamdan 2011 285 controls - - Canada French - - - - 285 Johan den Dunnen
-?/. i c.363+16C>T r.(=) p.(=) Unknown - likely benign g.241727452G>A g.240788035G>A - - KIF1A_000029 - PubMed: Hamdan 2011 - rs7594569 Germline - 1/50 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 50 cases - - Canada French - - - - 50 Johan den Dunnen
-/. - c.363+16C>T r.(=) p.(=) Unknown - benign g.241727452G>A - KIF1A(NM_001379631.1):c.363+16C>T - KIF1A_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. i c.363+69C>A r.(=) p.(=) Unknown - likely benign g.241727399G>T g.240787982G>T - - KIF1A_000049 incl. homozygous cases PubMed: Hamdan 2011 - - Germline - 4/285 controls - - - DNA SEQ - - Healthy/Control - PubMed: Hamdan 2011 285 controls - - Canada French - - - - 285 Johan den Dunnen
-?/. i c.363+69C>A r.(=) p.(=) Unknown - likely benign g.241727399G>T g.240787982G>T - - KIF1A_000049 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 50 cases - - Canada French - - - - 50 Johan den Dunnen
?/. - c.390C>G r.(?) p.(Ile130Met) Unknown - VUS g.241726707G>C g.240787290G>C KIF1A(NM_001244008.1):c.390C>G (p.(Ile130Met)) - KIF1A_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.393C>T r.(?) p.(Asn131=) Unknown - likely benign g.241726704G>A g.240787287G>A - - KIF1A_000028 - PubMed: Hamdan 2011 - rs35139906 Germline - 1/285 controls - - - DNA SEQ - - Healthy/Control - PubMed: Hamdan 2011 285 controls - - Canada French - - - - 285 Johan den Dunnen
-?/. - c.393C>T r.(?) p.(Asn131=) Unknown - likely benign g.241726704G>A g.240787287G>A - - KIF1A_000028 - PubMed: Hamdan 2011 - rs35139906 Germline - 1/50 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 50 cases - - Canada French - - - - 50 Johan den Dunnen
-/. - c.393C>T r.(?) p.(Asn131=) Unknown - benign g.241726704G>A g.240787287G>A KIF1A(NM_001244008.2):c.393C>T (p.N131=) - KIF1A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.406G>A r.(?) p.(Asp136Asn) Unknown - VUS g.241726691C>T - KIF1A(NM_001244008.2):c.406G>A (p.D136N) - KIF1A_000271 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.423C>T r.(?) p.(Ser141=) Unknown - likely benign g.241726674G>A - KIF1A(NM_001244008.1):c.423C>T (p.S141=) - KIF1A_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. i c.429+22T>C r.(=) p.(=) Unknown - benign g.241726646A>G g.240787229A>G - - KIF1A_000064 incl. homozygous cases PubMed: Hamdan 2011 - rs2288746 Germline - 174/285 control - - - DNA SEQ - - Healthy/Control - PubMed: Hamdan 2011 285 controls - - Canada French - - - - 285 Johan den Dunnen
-/. i c.429+22T>C r.(=) p.(=) Unknown - benign g.241726646A>G g.240787229A>G - - KIF1A_000064 - PubMed: Hamdan 2011 - rs2288746 Germline - 1/50 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 50 cases - - Canada French - - - - 50 Johan den Dunnen
-?/. - c.430-8C>T r.(=) p.(=) Unknown - likely benign g.241725938G>A g.240786521G>A KIF1A(NM_001244008.1):c.430-8C>T (p.(=)) - KIF1A_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.430-1G>A r.spl? p.? Unknown - VUS g.241725931C>T - KIF1A(NM_001244008.2):c.430-1G>A - KIF1A_000282 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.444G>T r.(?) p.(Glu148Asp) Unknown - likely pathogenic g.241725916C>A g.240786499C>A - - KIF1A_000075 - PubMed: Ohba 2015 - - De novo - - - - - DNA SEQ-NG-I Blood - NESCAVS - PubMed: Ohba 2015 - F no Japan Japanese - - - - 1 Hirotomo Saitsu
?/. - c.460G>A r.(?) p.(Val154Ile) Unknown - VUS g.241725900C>T - KIF1A(NM_001244008.1):c.460G>A (p.(Val154Ile)) - KIF1A_000331 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.467A>T r.(?) p.(Asp156Val) Unknown - likely pathogenic g.241725893T>A g.240786476T>A KIF1A(NM_001244008.1):c.467A>T (p.(Asp156Val)) - KIF1A_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.499C>T r.(?) p.(Arg167Cys) Unknown - pathogenic g.241725861G>A g.240786444G>A KIF1A(NM_001244008.2):c.499C>T (p.R167C) - KIF1A_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.499C>T r.(?) p.(Arg167Cys) Unknown - VUS g.241725861G>A g.240786444G>A KIF1A(NM_001244008.2):c.499C>T (p.R167C) - KIF1A_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.499C>T r.(?) p.(Arg167Cys) Unknown - likely pathogenic g.241725861G>A g.240786444G>A KIF1A(NM_001244008.2):c.499C>T (p.R167C) - KIF1A_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.500G>A r.(?) p.(Arg167His) Unknown - likely pathogenic g.241725860C>T g.240786443C>T - - KIF1A_000167 - PubMed: Pennings 2019, Journal: Pennings 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG - - SPG - PubMed: Pennings 2019, Journal: Pennings 2019 - M no - - - - - - 1 Maartje Pennings
+?/. 6 c.518T>C r.(?) p.(Leu173Pro) Unknown - likely pathogenic g.241725842A>G g.240786425A>G - - KIF1A_000166 - PubMed: Pennings 2019, Journal: Pennings 2019 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - SPG - PubMed: Pennings 2019, Journal: Pennings 2019 - M no - - - - - - 1 Maartje Pennings
?/. - c.563_565del r.(?) p.(Ser188del) Unknown - VUS g.241725798_241725800del g.240786381_240786383del KIF1A(NM_001244008.1):c.563_565delCCT (p.S188del) - KIF1A_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.579G>A r.(?) p.(Gln193=) Unknown - likely benign g.241725781C>T g.240786364C>T KIF1A(NM_001244008.1):c.579G>A (p.Q193=) - KIF1A_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.607A>G r.(?) p.(Arg203Gly) Unknown - likely pathogenic g.241725753T>C g.240786336T>C g.33973A>G - KIF1A_000244 - - - - De novo - - - - - DNA SEQ-NG-IT - - SPG30 - - - M - Russian Federation - - - - - 1 Varvara Kadnikova
-?/. - c.608+13A>T r.(=) p.(=) Unknown - likely benign g.241725739T>A - KIF1A(NM_001244008.2):c.608+13A>T - KIF1A_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.608+18C>T r.(=) p.(=) Unknown - likely benign g.241725734G>A - KIF1A(NM_001244008.2):c.608+18C>T - KIF1A_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. i c.608+35C>T r.(=) p.(=) Unknown - likely benign g.241725717G>A g.240786300G>A - - KIF1A_000036 - PubMed: Hamdan 2011 - rs13405424 Germline - 2/285 controls - - - DNA SEQ - - Healthy/Control - PubMed: Hamdan 2011 285 controls - - Canada French - - - - 285 Johan den Dunnen
-?/. i c.608+35C>T r.(=) p.(=) Unknown - likely benign g.241725717G>A g.240786300G>A - - KIF1A_000036 - PubMed: Hamdan 2011 - rs13405424 Germline - 1/50 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 50 cases - - Canada French - - - - 50 Johan den Dunnen
-?/. i c.608+46G>A r.(=) p.(=) Unknown - likely benign g.241725706C>T g.240786289C>T - - KIF1A_000027 - PubMed: Hamdan 2011 - - Germline - 1/285 controls - - - DNA SEQ - - Healthy/Control - PubMed: Hamdan 2011 285 controls - - Canada French - - - - 285 Johan den Dunnen
-?/. i c.608+46G>A r.(=) p.(=) Unknown - likely benign g.241725706C>T g.240786289C>T - - KIF1A_000027 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 50 cases - - Canada French - - - - 50 Johan den Dunnen
+?/. - c.633T>A r.(?) p.(Asn211Lys) Unknown - likely pathogenic g.241724493A>T g.240785076A>T - - KIF1A_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.643A>G r.(?) p.(Ser215Gly) Unknown - VUS g.241724483T>C - - - KIF1A_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.646C>T r.(?) p.(Arg216Cys) Unknown - pathogenic g.241724480G>A g.240785063G>A - - KIF1A_000076 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. - c.647G>A r.(?) p.(Arg216His) Unknown ACMG likely pathogenic g.241724479C>T g.240785062C>T - - KIF1A_000079 - PubMed: Trujillano 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - NESCAVS - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - 1 Daniel Trujillano
+/. - c.652C>G r.(?) p.(His218Asp) Unknown - pathogenic g.241724474G>C g.240785057G>C - - KIF1A_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.668T>C r.(?) p.(Ile223Thr) Unknown - VUS g.241724458A>G - KIF1A(NM_001244008.2):c.668T>C (p.I223T) - KIF1A_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.670A>G r.(?) p.(Ile224Val) Unknown - VUS g.241724456T>C - KIF1A(NM_001244008.2):c.670A>G (p.(Ile224Val)) - KIF1A_000311 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.694G>A r.(?) p.(Ala232Thr) Unknown - likely benign g.241724432C>T - KIF1A(NM_001244008.1):c.694G>A (p.A232T) - KIF1A_000270 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.714G>A r.(?) p.(Thr238=) Unknown - likely benign g.241724412C>T g.240784995C>T KIF1A(NM_001244008.1):c.714G>A (p.T238=) - KIF1A_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.720+5G>A r.spl? p.? Unknown - likely benign g.241724401C>T g.240784984C>T KIF1A(NM_001244008.2):c.720+5G>A - KIF1A_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.720+5G>C r.spl? p.? Unknown - likely benign g.241724401C>G g.240784984C>G KIF1A(NM_001244008.1):c.720+5G>C, KIF1A(NM_001244008.2):c.720+5G>C - KIF1A_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.720+5G>C r.spl? p.? Unknown - likely benign g.241724401C>G g.240784984C>G KIF1A(NM_001244008.1):c.720+5G>C, KIF1A(NM_001244008.2):c.720+5G>C - KIF1A_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. i c.720+30C>A r.(=) p.(=) Unknown - likely benign g.241724376G>T g.240784959G>T - - KIF1A_000026 - PubMed: Hamdan 2011 - - Germline - 1/285 controls - - - DNA SEQ - - Healthy/Control - PubMed: Hamdan 2011 285 controls - - Canada French - - - - 285 Johan den Dunnen
-?/. i c.720+30C>A r.(=) p.(=) Unknown - likely benign g.241724376G>T g.240784959G>T - - KIF1A_000026 - PubMed: Hamdan 2011 - - Germline - 1/50 cases - - - DNA SEQ - - ID - PubMed: Hamdan 2011 50 cases - - Canada French - - - - 50 Johan den Dunnen
?/. - c.721-304G>A r.(=) p.(=) Unknown - VUS g.241723537C>T - KIF1A(NM_001244008.2):c.721-304G>A - KIF1A_000310 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.749C>T r.(?) p.(Ala250Val) Unknown ACMG likely pathogenic (dominant) g.241723205G>A g.240783788G>A - - KIF1A_000298 ACMG: PM1, PP3_MOD, PS2_SUP, PM2_SUP, PM5_SUP, PP2 - - - De novo - - - - - DNA SEQ-NG-I Blood - NESCAVS 286589 - - F no ? (unknown) - - - - - 1 Andreas Laner
?/. - c.750T>A r.(?) p.(Ala250=) Unknown - VUS g.241723204A>T g.240783787A>T KIF1A(NM_001244008.2):c.750T>A (p.A250=) - KIF1A_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.755G>A r.(?) p.(Ser252Asn) Unknown - likely benign g.241723199C>T - KIF1A(NM_001244008.1):c.755G>A (p.S252N) - KIF1A_000351 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.756C>G r.(?) p.(Ser252Arg) Unknown - VUS g.241723198G>C g.240783781G>C - - KIF1A_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.756C>G r.(?) p.(Ser252Arg) Unknown - VUS g.241723198G>C g.240783781G>C - - KIF1A_000154 - PubMed: Pennings 2019, Journal: Pennings 2019 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - SPG - PubMed: Pennings 2019, Journal: Pennings 2019 - M ? - - - - - - 1 Maartje Pennings
+?/. 8 c.756C>G r.(?) p.(Ser252Arg) Unknown - VUS g.241723198G>C g.240783781G>C - - KIF1A_000154 - PubMed: Pennings 2019, Journal: Pennings 2019 - - Germline/De novo (untested) ? - - - - DNA PCR - - - - - - M no Netherlands - - - - - 1 Maartje Pennings
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