Full data view for gene VPS13D

Information The variants shown are described using the NM_015378.2 transcript reference sequence.

137 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.12794+1609_*3021{0} r.[12795_*3021delins[NC_000001.10:g.12573821_?],12795_*3021delins[NC_000001.10:g.12574795_?],12795_*3021delins[NC_000001.10:g.12587487_?]] p.[Phe4266ArgfsTer29,Phe4266CysfsTer34,Phe4265LeufsTer18] Both (homozygous) - pathogenic (recessive) g.12559294_12573479delinsCAATG g.12499240_12513425delinsCAATG del ex69-70, c.12794+1609_*3021+1380delinsCAATG - VPS13D_000110 skipping last two exons (69 and 70) PubMed: Dekker 2023 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES trio, region of homozygosity NDD Pat3 PubMed: Dekker 2023 - F yes Netherlands - - - - - 1 Johan den Dunnen
+/. - c.-3090253_*130922del 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.105T>C r.(?) p.(=) Unknown - likely benign g.12302577T>C - VPS13D(NM_015378.4):c.105T>C (p.V35=) - VPS13D_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.227A>G r.(?) p.(Asp76Gly) Unknown - VUS g.12304354A>G g.12244297A>G VPS13D(NM_015378.4):c.227A>G (p.D76G) - VPS13D_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.564+8T>A r.(=) p.(=) Unknown - likely benign g.12309404T>A g.12249347T>A VPS13D(NM_015378.4):c.564+8T>A - VPS13D_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.941+3A>G r.spl? p.? Unknown - likely pathogenic g.12317147A>G g.12257090A>G - - VPS13D_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.941+3A>G r.(?) p.? Unknown - VUS g.12317147A>G g.12257090A>G - - VPS13D_000006 - PubMed: Seong E - - Germline/De novo (untested) - - - - - RNA SEQ-NG Skin (fibroblast) - spastic ataxia NIJ 3 PubMed: Seong E - M - Netherlands - 37y - - - 1 Inge Meijer
+?/. - c.941+3A>G r.[841_941del,941_942ins[gug;941+4_942-1],=] p.[Gln282Profs*11,Asn314Lysfs*2,=] Maternal (confirmed) - pathogenic (recessive) g.12317147A>G g.12257090A>G - - VPS13D_000006 exon skipping, intron retention; transcripts cycloheximide sensitive; residual normal splicing (two loss-of-function variants likely to be associated with embryonic lethality) PubMed: Bournazos 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-RNA whole blood, fibroblasts, urothelial cells trio WES ? A066 PubMed: Bournazos 2022 family, 1 affected M - Australia - - - - - 1 Johan den Dunnen
+/. 9i c.941+3A>G r.[841_941del,=] p.[Gln282ProfsTer11,=] Maternal (confirmed) - pathogenic (recessive) g.12317147A>G g.12257090A>G - - VPS13D_000006 - PubMed: Pauly 2023 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? Fam1PatII1 PubMed: Pauly 2023 2-generation family, 1 affected, unaffected heterozygous parents F no Germany - - - - - 1 Johan den Dunnen
+/. 9i c.941+3A>G r.[(841_941del,=)] p.[(Gln282ProfsTer11,=)] Both (homozygous) - pathogenic (recessive) g.12317147A>G g.12257090A>G - - VPS13D_000006 - PubMed: Pauly 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam2PatII1 PubMed: Pauly 2023 2-generation family, 1 affected, unaffected heterozygous parents/relatives M - - - - - - - 1 Johan den Dunnen
-?/. - c.1029G>A r.(?) p.(Leu343=) Unknown - likely benign g.12318079G>A g.12258022G>A VPS13D(NM_015378.4):c.1029G>A (p.L343=) - VPS13D_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1033C>T r.(?) p.(Arg345Cys) Unknown - VUS g.12318083C>T - VPS13D(NM_015378.4):c.1033C>T (p.R345C) - VPS13D_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1342A>G r.(?) p.(Thr448Ala) Unknown - likely benign g.12321134A>G g.12261077A>G VPS13D(NM_015378.2):c.1342A>G (p.(Thr448Ala)), VPS13D(NM_015378.4):c.1342A>G (p.T448A) - VPS13D_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1342A>G r.(?) p.(Thr448Ala) Unknown - likely benign g.12321134A>G - VPS13D(NM_015378.2):c.1342A>G (p.(Thr448Ala)), VPS13D(NM_015378.4):c.1342A>G (p.T448A) - VPS13D_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1414+5G>A r.spl? p.? Unknown - VUS g.12321211G>A - VPS13D(NM_015378.4):c.1414+5G>A - VPS13D_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1414+5G>A r.spl? p.? Unknown - VUS g.12321211G>A - VPS13D(NM_015378.4):c.1414+5G>A - VPS13D_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1473G>A r.(?) p.(Lys491=) Unknown - likely benign g.12322016G>A g.12261959G>A VPS13D(NM_015378.4):c.1473G>A (p.K491=) - VPS13D_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1624C>T r.(?) p.(Arg542Ter) Unknown - VUS g.12326967C>T g.12266910C>T VPS13D(NM_015378.4):c.1624C>T (p.R542*) - VPS13D_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1853C>T r.(?) p.(Ala618Val) Unknown - likely benign g.12328814C>T g.12268757C>T VPS13D(NM_015378.4):c.1853C>T (p.A618V) - VPS13D_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1863C>T r.(?) p.(His621=) Unknown - likely benign g.12328824C>T g.12268767C>T VPS13D(NM_015378.4):c.1863C>T (p.H621=) - VPS13D_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1984C>T r.(?) p.(Gln662*) Unknown - likely pathogenic g.12331062C>T g.12271005C>T - - VPS13D_000023 - PubMed: Seong E 2018 - - Germline/De novo (untested) - - - - - RNA SEQ-NG skin cells - spastic ataxia NIJ 1 PubMed: Seong E 2018 - M - Netherlands - 43y - - - 1 Inge Meijer
-?/. - c.2020C>A r.(?) p.(Arg674=) Unknown - likely benign g.12331098C>A - VPS13D(NM_015378.4):c.2020C>A (p.R674=) - VPS13D_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2203G>A r.(?) p.(Asp735Asn) Unknown - VUS g.12333159G>A - VPS13D(NM_015378.4):c.2203G>A (p.D735N) - VPS13D_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2225C>T r.(?) p.(Thr742Met) Unknown - VUS g.12333181C>T - VPS13D(NM_015378.2):c.2225C>T (p.(Thr742Met)) - VPS13D_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18i c.2237-1G>A r.2237_4450del p.Asp746_Gln1483del Paternal (confirmed) - pathogenic (recessive) g.12335881G>A g.12275824G>A - - VPS13D_000099 - PubMed: Pauly 2023 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? Fam1PatII1 PubMed: Pauly 2023 2-generation family, 1 affected, unaffected heterozygous parents F no Germany - - - - - 1 Johan den Dunnen
?/. - c.2237-1G>C r.(?) p.0? Unknown - VUS g.12335881G>C g.12275824G>C - - VPS13D_000027 - PubMed: Seong E 2018 - - Germline/De novo (untested) - - - - - RNA SEQ-NG Skin (fibroblast) - ataxia NIJ 4 - - F - Netherlands - 06y - - - 1 Inge Meijer
?/. - c.2237-1G>C r.spl? p.? Unknown - VUS g.12335881G>C g.12275824G>C - - VPS13D_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2593A>G r.(?) p.(Thr865Ala) Unknown - likely pathogenic g.12336238A>G g.12276181A>G - - VPS13D_000017 - PubMed: Gauthier 2018 - - Germline/De novo (untested) - - - - - RNA SEQ-NG Blood cells - ataxia 0000178607 PubMed: Gauthier 2018 - F - - Italian, Welsh, Irish, Yougoslavian, African American 00y22m - - - 1 Inge Meijer
-?/. - c.3178G>A r.(?) p.(Asp1060Asn) Unknown - likely benign g.12336823G>A - VPS13D(NM_015378.4):c.3178G>A (p.D1060N) - VPS13D_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3272G>A r.(?) p.(Cys1091Tyr) Unknown - likely benign g.12336917G>A - VPS13D(NM_015378.4):c.3272G>A (p.(Cys1091Tyr)) - VPS13D_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3316C>T r.(?) p.(Gln1106Ter) Unknown - likely pathogenic g.12336961C>T g.12276904C>T - - VPS13D_000020 - PubMed: Seong 2018 - - Germline - - - - - RNA SEQ-NG Skin (fibroblast) - ataxia UM1.1 PubMed: Gauthier 2018 - M - Slovenia - 54y - - - 5 Inge Meijer
+?/. - c.3316C>T r.(?) p.(Gln1106Ter) Unknown - likely pathogenic g.12336961C>T g.12276904C>T - - VPS13D_000020 - PubMed: Seong 2018 - - Germline - - - - - RNA SEQ-NG - - ataxia UM1.2 PubMed: Seong 2018 - M - Slovenia - 52y - - - 1 Inge Meijer
+?/. - c.3316C>T r.(?) p.(Gln1106Ter) Unknown - likely pathogenic g.12336961C>T g.12276904C>T - - VPS13D_000020 - PubMed: Seong 2018 - - Germline - - - - - RNA SEQ-NG Skin (fibroblast) - ataxia UM1.3 PubMed: Seong 2018 - F - Slovenia - 50y - - - 1 Inge Meijer
+?/. - c.3316C>T r.(?) p.(Gln1106Ter) Unknown - likely pathogenic g.12336961C>T g.12276904C>T - - VPS13D_000020 - PubMed: Seong 2018 - - Germline - - - - - RNA SEQ-NG Skin (fibroblast) - ataxia UM1.4 PubMed: Seong 2018 - M - Slovenia - 49y - - - 1 Inge Meijer
+?/. - c.3316C>T r.(?) p.(Gln1106Ter) Unknown - likely pathogenic g.12336961C>T g.12276904C>T - - VPS13D_000020 - PubMed: Seong 2018 - - Germline - - - - - RNA SEQ-NG Skin (fibroblast) - ataxia UM1.5 PubMed: Seong 2018 - M - Slovenia - 47y - - - 1 Inge Meijer
+?/. - c.3569G>A r.(?) p.(Gly1190Asp) Unknown - likely pathogenic g.12337214G>A g.12277157G>A - - VPS13D_000019 - PubMed: Seong 2018 - - Germline - - - - - RNA SEQ-NG Skin (fibroblast) - ataxia UM1.1 PubMed: Gauthier 2018 - M - Slovenia - 54y - - - 5 Inge Meijer
+?/. - c.3569G>A r.(?) p.(Gly1190Asp) Unknown - likely pathogenic g.12337214G>A g.12277157G>A - - VPS13D_000019 - PubMed: Seong 2018 - - Germline - - - - - RNA SEQ-NG - - ataxia UM1.2 PubMed: Seong 2018 - M - Slovenia - 52y - - - 1 Inge Meijer
+?/. - c.3569G>A r.(?) p.(Gly1190Asp) Unknown - likely pathogenic g.12337214G>A g.12277157G>A - - VPS13D_000019 - PubMed: Seong 2018 - - Germline - - - - - RNA SEQ-NG Skin (fibroblast) - ataxia UM1.3 PubMed: Seong 2018 - F - Slovenia - 50y - - - 1 Inge Meijer
+?/. - c.3569G>A r.(?) p.(Gly1190Asp) Unknown - likely pathogenic g.12337214G>A g.12277157G>A - - VPS13D_000019 - PubMed: Seong 2018 - - Germline - - - - - RNA SEQ-NG Skin (fibroblast) - ataxia UM1.4 PubMed: Seong 2018 - M - Slovenia - 49y - - - 1 Inge Meijer
+?/. - c.3569G>A r.(?) p.(Gly1190Asp) Unknown - likely pathogenic g.12337214G>A g.12277157G>A - - VPS13D_000019 - PubMed: Seong 2018 - - Germline - - - - - RNA SEQ-NG Skin (fibroblast) - ataxia UM1.5 PubMed: Seong 2018 - M - Slovenia - 47y - - - 1 Inge Meijer
+?/. - c.3599G>A r.(?) p.(Gly1200Asp) Unknown - likely pathogenic g.12337244G>A g.12277187G>A - - VPS13D_000018 - PubMed: Gauthier 2018 - - Germline/De novo (untested) - - - - - RNA SEQ-NG Blood cells - ataxia 0000178607 PubMed: Gauthier 2018 - F - - Italian, Welsh, Irish, Yougoslavian, African American 00y22m - - - 1 Inge Meijer
?/. - c.3803A>C r.(?) p.(Glu1268Ala) Unknown - VUS g.12337448A>C - VPS13D(NM_015378.4):c.3803A>C (p.E1268A) - VPS13D_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3819G>A r.(?) p.(Thr1273=) Unknown - likely benign g.12337464G>A - VPS13D(NM_015378.4):c.3819G>A (p.T1273=) - VPS13D_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3919A>T r.(?) p.(Met1307Leu) Unknown - likely pathogenic g.12337564A>T g.12277507A>T - - VPS13D_000024 - - - - Germline/De novo (untested) - - - - - RNA SEQ-NG skin cells - spastic ataxia NIJ 1 PubMed: Seong E 2018 - M - Netherlands - 43y - - - 1 Inge Meijer
?/. - c.4022C>T r.(?) p.(Ser1341Leu) Unknown - VUS g.12337667C>T g.12277610C>T VPS13D(NM_015378.4):c.4022C>T (p.S1341L) - VPS13D_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4108T>C r.(?) p.(Leu1370=) Unknown - likely benign g.12337753T>C - VPS13D(NM_015378.4):c.4108T>C (p.L1370=) - VPS13D_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4238G>A r.(?) p.(Gly1413Glu) Unknown - VUS g.12337883G>A g.12277826G>A VPS13D(NM_015378.4):c.4238G>A (p.G1413E) - VPS13D_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4243G>A r.(?) p.(Asp1415Asn) Unknown - likely benign g.12337888G>A - VPS13D(NM_015378.4):c.4243G>A (p.D1415N) - VPS13D_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4256G>T r.(?) p.(Ser1419Ile) Unknown - VUS g.12337901G>T g.12277844G>T VPS13D(NM_015378.4):c.4256G>T (p.S1419I) - VPS13D_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4623A>G r.(?) p.(Val1541=) Unknown - likely benign g.12342782A>G - VPS13D(NM_015378.4):c.4623A>G (p.V1541=) - VPS13D_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5269G>A r.(?) p.(Asp1757Asn) Unknown - likely benign g.12343428G>A - VPS13D(NM_015378.2):c.5269G>A (p.(Asp1757Asn)), VPS13D(NM_015378.4):c.5269G>A (p.D1757N) - VPS13D_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5269G>A r.(?) p.(Asp1757Asn) Unknown - VUS g.12343428G>A - VPS13D(NM_015378.2):c.5269G>A (p.(Asp1757Asn)), VPS13D(NM_015378.4):c.5269G>A (p.D1757N) - VPS13D_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5300C>T r.(?) p.(Thr1767Ile) Unknown - VUS g.12343459C>T - VPS13D(NM_015378.4):c.5300C>T (p.T1767I) - VPS13D_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5334T>A r.(?) p.(Ser1778Arg) Unknown - VUS g.12343493T>A g.12283436T>A VPS13D(NM_015378.4):c.5334T>A (p.S1778R) - VPS13D_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.5409C>A r.(?) p.(Tyr1803Ter) Unknown - likely pathogenic g.12343568C>A g.12283511C>A - - VPS13D_000022 - PubMed: Seong 2018 - - Germline - - - - - RNA SEQ-NG Skin (fibroblast) - spastic ataxia LUB1.1 PubMed: Seong 2018 - F - Germany - 35y - - - 2 Inge Meijer
+?/. - c.5409C>A r.(?) p.(Tyr1803Ter) Unknown - likely pathogenic g.12343568C>A g.12283511C>A - - VPS13D_000022 - PubMed: Seong 2018 - - Germline - - - - - RNA SEQ-NG Skin (fibroblast) - spastic ataxia LUB1.2 PubMed: Seong 2018 - F - Germany - 29y - - - 1 Inge Meijer
?/. - c.5495T>G r.(?) p.(Phe1832Cys) Unknown - VUS g.12343654T>G g.12283597T>G VPS13D(NM_015378.4):c.5495T>G (p.F1832C) - VPS13D_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5527G>A r.(?) p.(Ala1843Thr) Unknown - VUS g.12343686G>A g.12283629G>A VPS13D(NM_015378.4):c.5527G>A (p.A1843T) - VPS13D_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5634G>A r.(?) p.(=) Unknown - VUS g.12343793G>A - - - VPS13D_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.5853-94_71481+210dup r.(?) p.? Unknown - likely pathogenic g.12353487_12374594dup - - - VPS13D_000013 Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Gauthier 2018 - - Germline - - - - - RNA SEQ-NG Blood cells - DYT 0000178604 PubMed: Gauthier 2018 - F - - European 03y - - - 1 Inge Meijer
?/. - c.5893A>T r.(?) p.(Ile1965Phe) Unknown - VUS g.12353621A>T g.12293564A>T VPS13D(NM_015378.4):c.5893A>T (p.I1965F) - VPS13D_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5896C>T r.(?) p.(Arg1966Cys) Unknown - VUS g.12353624C>T - VPS13D(NM_015378.4):c.5896C>T (p.R1966C) - VPS13D_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5898C>T r.(?) p.(Arg1966=) Unknown - likely benign g.12353626C>T - VPS13D(NM_015378.4):c.5898C>T (p.R1966=) - VPS13D_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6094G>A r.(?) p.(Val2032Ile) Unknown - VUS g.12359319G>A - VPS13D(NM_015378.4):c.6094G>A (p.V2032I) - VPS13D_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6310G>A r.(?) p.(Gly2104Arg) Unknown - likely benign g.12364656G>A - VPS13D(NM_015378.4):c.6310G>A (p.G2104R) - VPS13D_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6406A>G r.(?) p.(Thr2136Ala) Unknown - likely benign g.12364752A>G - VPS13D(NM_015378.4):c.6406A>G (p.T2136A) - VPS13D_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6745G>A r.(?) p.(Gly2249Ser) Unknown - VUS g.12371605G>A g.12311548G>A VPS13D(NM_015378.4):c.6745G>A (p.G2249S) - VPS13D_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6814A>G r.(?) p.(Arg2272Gly) Unknown - VUS g.12371674A>G - VPS13D(NM_015378.4):c.6814A>G (p.R2272G) - VPS13D_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6829del r.(?) p.(Leu2277Ter) Unknown - pathogenic g.12371876del g.12311819del - - VPS13D_000029 - {PMID:Seong E 2018: 29604237) - - Germline/De novo (untested) - - - - - RNA SEQ-NG Blood - ataxia WF1 PubMed: Seong E 2018 - F - - white 02y - - - 1 Inge Meijer
-?/. - c.7243C>T r.(?) p.(His2415Tyr) Unknown - likely benign g.12378223C>T g.12318166C>T VPS13D(NM_015378.2):c.7243C>T (p.(His2415Tyr)), VPS13D(NM_015378.4):c.7243C>T (p.H2415Y) - VPS13D_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7243C>T r.(?) p.(His2415Tyr) Unknown - VUS g.12378223C>T - VPS13D(NM_015378.2):c.7243C>T (p.(His2415Tyr)), VPS13D(NM_015378.4):c.7243C>T (p.H2415Y) - VPS13D_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7294C>T r.(?) p.(Arg2432Cys) Unknown - likely benign g.12378274C>T - VPS13D(NM_015378.4):c.7294C>T (p.R2432C) - VPS13D_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7294C>T r.(?) p.(Arg2432Cys) Unknown - likely benign g.12378274C>T - VPS13D(NM_015378.4):c.7294C>T (p.R2432C) - VPS13D_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.7334_7335del r.(?) p.(Val2445GlufsTer16) Unknown - likely pathogenic g.12378314_12378315del g.12318257_12318258del - - VPS13D_000010 - PubMed: Gauthier 2018 - - Germline - - - - - RNA SEQ-NG Blood cells - spastic ataxia 0000178601 PubMed: Gauthier 2018 - M - Canada French Canadian 31y - - - 2 Inge Meijer
+?/. - c.7334_7335del r.(?) p.(Val2445GlufsTer16) Unknown - likely pathogenic g.12378314_12378315del g.12318257_12318258del - - VPS13D_000010 - PubMed: Gauthier 2018 - - Germline - - - - - RNA SEQ-NG Blood cells - spastic ataxia 0000178602 PubMed: Gauthier 2018 - M - Canada French Canadian 33y - - - 1 Inge Meijer
?/. - c.7408G>A r.(?) p.(Val2470Ile) Unknown - VUS g.12378388G>A - VPS13D(NM_015378.4):c.7408G>A (p.V2470I) - VPS13D_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7576C>T r.(?) p.(His2526Tyr) Unknown - VUS g.12381893C>T g.12321836C>T VPS13D(NM_015378.4):c.7576C>T (p.H2526Y) - VPS13D_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7688T>A r.(?) p.(Phe2563Tyr) Unknown - VUS g.12382005T>A g.12321948T>A VPS13D(NM_015378.4):c.7688T>A (p.F2563Y) - VPS13D_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7714C>T r.(?) p.(Gln2572Ter) Unknown - VUS g.12382602C>T g.12322545C>T - - VPS13D_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.7714C>T r.(?) p.(Gln2572Ter) Unknown - likely pathogenic g.12382602C>T g.12322545C>T - - VPS13D_000007 - PubMed: Seong E - - Germline/De novo (untested) - - - - - RNA SEQ-NG Skin (fibroblast) - SPG NIJ 2 PubMed: Seong E 2018 - F - Indonesia Javanese 29y - - - 1 Inge Meijer
-?/. - c.7893A>T r.(?) p.(Arg2631Ser) Unknown - likely benign g.12382781A>T - VPS13D(NM_015378.2):c.7893A>T (p.(Arg2631Ser)) - VPS13D_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8052C>T r.(?) p.(=) Unknown - likely benign g.12387766C>T - VPS13D(NM_015378.4):c.8052C>T (p.(Ser2684=)) - VPS13D_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8069G>A r.(?) p.(Arg2690Gln) Unknown - VUS g.12387783G>A - VPS13D(NM_015378.2):c.8069G>A (p.(Arg2690Gln)) - VPS13D_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8243C>T r.(?) p.(Ala2748Val) Unknown - VUS g.12389931C>T - VPS13D(NM_015378.4):c.8243C>T (p.A2748V) - VPS13D_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8275C>T r.(?) p.(Arg2759Cys) Unknown - VUS g.12389963C>T - VPS13D(NM_015378.4):c.8275C>T (p.R2759C) - VPS13D_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8287+7A>G r.(=) p.(=) Unknown - likely benign g.12389982A>G g.12329925A>G VPS13D(NM_015378.4):c.8287+7A>G - VPS13D_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8288-4T>C r.spl? p.? Unknown - likely benign g.12393279T>C - VPS13D(NM_015378.4):c.8288-4T>C - VPS13D_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8334A>G r.(?) p.(Gln2778=) Unknown - likely benign g.12393329A>G g.12333272A>G VPS13D(NM_015378.4):c.8334A>G (p.Q2778=) - VPS13D_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8363C>G r.(?) p.(Pro2788Arg) Unknown - likely benign g.12393358C>G g.12333301C>G VPS13D(NM_015378.4):c.8363C>G (p.P2788R) - VPS13D_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8626+3A>G r.spl? p.? Unknown - VUS g.12398365A>G g.12338308A>G VPS13D(NM_015378.4):c.8626+3A>G - VPS13D_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8678G>A r.(?) p.(Arg2893Lys) Unknown - VUS g.12401888G>A g.12341831G>A VPS13D(NM_015378.4):c.8678G>A (p.R2893K) - VPS13D_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.8699T>C r.(?) p.(Leu2900Ser) Unknown - likely pathogenic g.12401909T>C g.12341852T>C - - VPS13D_000014 - PubMed: Gauthier 2018 - - Germline - - - - - RNA SEQ-NG Blood cells - DYT 0000178604 PubMed: Gauthier 2018 - F - - European 03y - - - 1 Inge Meijer
+?/. - c.8960_8961delTG r.(?) p.(Val2987Glyfs14) Unknown - likely pathogenic g.12405505delTG - - - VPS13D_000025 Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message. PubMed: Seong E 2018 - - Germline/De novo (untested) - - - - - RNA SEQ-NG Skin (fibroblast) - spastic ataxia NIJ 3 PubMed: Seong E - M - Netherlands - 37y - - - 1 Inge Meijer
-?/. - c.9021+7G>A r.(=) p.(=) Unknown - likely benign g.12405573G>A g.12345516G>A VPS13D(NM_015378.4):c.9021+7G>A - VPS13D_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.9069+4A>G r.spl? p.? Unknown - likely pathogenic g.12406713A>G - - - VPS13D_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9081C>A r.(?) p.(Leu3027=) Unknown - likely benign g.12408891C>A - VPS13D(NM_015378.4):c.9081C>A (p.L3027=) - VPS13D_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9204C>T r.(?) p.(Ser3068=) Unknown - likely benign g.12409014C>T - VPS13D(NM_015378.4):c.9204C>T (p.S3068=) - VPS13D_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.9421C>T r.(?) p.(Arg3141Ter) Unknown - pathogenic g.12409421C>T - - - VPS13D_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.9758G>A r.(?) p.(Arg3253Gln) Unknown - likely pathogenic g.12416034G>A g.12355977G>A - - VPS13D_000016 - PubMed: Gauthier 2018 - - Germline - - - - - RNA SEQ-NG Blood cells - DYT 0000178605 PubMed: Gauthier 2018 - M - Italy - 31y - - - 2 Inge Meijer
+?/. - c.9758G>A r.(?) p.(Arg3253Gln) Unknown - likely pathogenic g.12416034G>A g.12355977G>A - - VPS13D_000016 - PubMed: Gauthier 2018 - - Germline - - - - - RNA SEQ-NG Blood cells - DYT 0000178606 PubMed: Gauthier 2018 - F - Italy - 29y - - - 1 Inge Meijer
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