All variants in the UNC13D gene

Information The variants shown are described using the NM_199242.2 transcript reference sequence.

127 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. - c.-3540G>A r.(?) p.(=) - VUS g.73843958C>T g.75847877C>T WBP2(NM_012478.4):c.451G>A (p.G151R) - UNC13D_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.24G>A r.(?) p.(Pro8=) - likely benign g.73840395C>T g.75844314C>T UNC13D(NM_199242.2):c.24G>A (p.P8=) - UNC13D_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.31C>T r.(?) p.(Arg11Cys) - VUS g.73840388G>A - - - UNC13D_000093 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
?/. - c.67C>T r.(?) p.(Arg23Cys) - VUS g.73840352G>A g.75844271G>A UNC13D(NM_199242.2):c.67C>T (p.R23C) - UNC13D_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.99G>A r.(?) p.(Pro33=) - likely benign g.73840320C>T g.75844239C>T UNC13D(NM_199242.2):c.99G>A (p.P33=) - UNC13D_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.117+59C>T r.(=) p.(=) - benign g.73840243G>A g.75844162G>A UNC13D(NM_199242.2):c.117+59C>T - UNC13D_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.118-308C>T r.(=) p.(=) - likely pathogenic g.73839908G>A g.75843827G>A UNC13D(NM_199242.2):c.118-308C>T - UNC13D_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.154-19G>A r.(=) p.(=) - benign g.73839366C>T g.75843285C>T UNC13D(NM_199242.2):c.154-19G>A - UNC13D_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.154-19G>A r.(=) p.(=) - benign g.73839366C>T g.75843285C>T UNC13D(NM_199242.2):c.154-19G>A - UNC13D_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.154-19G>A r.(=) p.(=) - benign g.73839366C>T g.75843285C>T UNC13D(NM_199242.2):c.154-19G>A - UNC13D_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.154-8T>A r.(=) p.(=) - benign g.73839355A>T g.75843274A>T UNC13D(NM_199242.2):c.154-8T>A - UNC13D_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.175G>A r.(?) p.(Ala59Thr) - benign g.73839326C>T g.75843245C>T UNC13D(NM_199242.2):c.175G>A (p.A59T) - UNC13D_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.247C>T r.(?) p.(Arg83*) - likely pathogenic g.73839254G>A - UNC13D(NM_199242.2):c.247C>T (p.R83*) - UNC13D_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.262-1G>A r.spl? p.? - VUS g.73839155C>T g.75843074C>T UNC13D(NM_199242.2):c.262-1G>A - UNC13D_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.262-1G>A r.spl? p.? - likely pathogenic g.73839155C>T - UNC13D(NM_199242.2):c.262-1G>A - UNC13D_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.271G>A r.(?) p.(Val91Met) - likely benign g.73839145C>T g.75843064C>T UNC13D(NM_199242.2):c.271G>A (p.V91M) - UNC13D_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.279C>T r.(?) p.(Pro93=) - benign g.73839137G>A g.75843056G>A UNC13D(NM_199242.2):c.279C>T (p.P93=) - UNC13D_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.279C>T r.(?) p.(Pro93=) - benign g.73839137G>A g.75843056G>A UNC13D(NM_199242.2):c.279C>T (p.P93=) - UNC13D_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.283_285dup r.(?) p.(Glu95dup) - VUS g.73839134_73839136dup g.75843053_75843055dup UNC13D(NM_199242.2):c.283_285dupGAG (p.E95dup) - UNC13D_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.407G>T r.(?) p.(Cys136Phe) - VUS g.73838676C>A g.75842595C>A UNC13D(NM_199242.2):c.407G>T (p.C136F) - UNC13D_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.421G>T r.(?) p.(Glu141Ter) - VUS g.73838662C>A g.75842581C>A UNC13D(NM_199242.2):c.421G>T (p.E141*) - UNC13D_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.551G>A r.(?) p.(Trp184Ter) - VUS g.73838532C>T g.75842451C>T UNC13D(NM_199242.2):c.551G>A (p.W184*) - UNC13D_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.560C>A r.(?) p.(Thr187Asn) - VUS g.73838523G>T g.75842442G>T UNC13D(NM_199242.2):c.560C>A (p.T187N) - UNC13D_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.602A>G r.(?) p.(His201Arg) - VUS g.73837050T>C - - - UNC13D_000092 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
-?/. - c.610A>G r.(?) p.(Met204Val) - likely benign g.73837042T>C g.75840961T>C UNC13D(NM_199242.2):c.610A>G (p.M204V) - UNC13D_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.629T>G r.(?) p.(Val210Gly) - likely benign g.73836897A>C g.75840816A>C UNC13D(NM_199242.2):c.629T>G (p.V210G) - UNC13D_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.640C>T r.(?) p.(Arg214Ter) - likely pathogenic g.73836886G>A g.75840805G>A UNC13D(NM_199242.2):c.640C>T (p.R214*) - UNC13D_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.753+1G>T r.spl? p.? - pathogenic g.73836587C>A g.75840506C>A UNC13D(NM_199242.2):c.753+1G>T - UNC13D_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.754-2A>G r.spl? p.? - VUS g.73836412T>C g.75840331T>C UNC13D(NM_199242.2):c.754-2A>G - UNC13D_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.869C>T r.(?) p.(Ser290Leu) - likely benign g.73836181G>A - UNC13D(NM_199242.2):c.869C>T (p.S290L) - UNC13D_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.888G>C r.(?) p.(Pro296=) - benign g.73836162C>G g.75840081C>G UNC13D(NM_199242.2):c.888G>C (p.P296=) - UNC13D_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.888G>C r.(?) p.(Pro296=) - benign g.73836162C>G g.75840081C>G UNC13D(NM_199242.2):c.888G>C (p.P296=) - UNC13D_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.888G>C r.(?) p.(Pro296=) - benign g.73836162C>G g.75840081C>G UNC13D(NM_199242.2):c.888G>C (p.P296=) - UNC13D_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.897C>A r.(?) p.(Thr299=) - likely benign g.73836153G>T g.75840072G>T UNC13D(NM_199242.2):c.897C>A (p.T299=) - UNC13D_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.929C>T r.(?) p.(Ser310Phe) - VUS g.73836121G>A g.75840040G>A UNC13D(NM_199242.2):c.929C>T (p.S310F) - UNC13D_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.949G>A r.(?) p.(Glu317Lys) - VUS g.73836101C>T - - - UNC13D_000088 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
-/. - c.951+13T>G r.(=) p.(=) - benign g.73836086A>C g.75840005A>C UNC13D(NM_199242.2):c.951+13T>G - UNC13D_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.951+13T>G r.(=) p.(=) - VUS g.73836086A>C g.75840005A>C - - UNC13D_000024 conflicting interpretations of pathogenicity; 102 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140758914 Germline - 102/2795 individuals - 0 - Mohammed Faruq
?/. - c.951+13T>G r.(=) p.(=) - VUS g.73836086A>C g.75840005A>C - - UNC13D_000024 conflicting interpretations of pathogenicity; 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140758914 Germline - 4/2795 individuals - 0 - Mohammed Faruq
?/. - c.952-1G>A r.spl? p.? - VUS g.73836024C>T g.75839943C>T UNC13D(NM_199242.2):c.952-1G>A - UNC13D_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1014C>T r.(?) p.(His338=) - likely benign g.73835961G>A - UNC13D(NM_199242.2):c.1014C>T (p.H338=) - UNC13D_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1055+1G>A r.spl? p.? - VUS g.73835919C>T g.75839838C>T UNC13D(NM_199242.2):c.1055+1G>A - UNC13D_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1134C>T r.(?) p.(Ile378=) - likely benign g.73832921G>A - UNC13D(NM_199242.2):c.1134C>T (p.I378=) - UNC13D_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1204C>T r.(?) p.(Leu402=) - likely benign g.73832747G>A g.75836666G>A UNC13D(NM_199242.2):c.1204C>T (p.L402=) - UNC13D_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1232G>A r.(?) p.(Arg411Gln) - VUS g.73832719C>T - - - UNC13D_000087 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
?/. - c.1232G>A r.(?) p.(Arg411Gln) - VUS g.73832719C>T - - - UNC13D_000087 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
?/. - c.1241G>T r.(?) p.(Arg414Leu) - VUS g.73832710C>A g.75836629C>A UNC13D(NM_199242.2):c.1241G>T (p.R414L) - UNC13D_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1390-38T>C r.(=) p.(=) - benign g.73832375A>G g.75836294A>G UNC13D(NM_199242.2):c.1390-38T>C - UNC13D_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1447-17C>T r.(=) p.(=) - likely benign g.73832207G>A - UNC13D(NM_199242.2):c.1447-17C>T - UNC13D_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1447-1G>A r.spl? p.? - VUS g.73832191C>T - - - UNC13D_000091 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
-?/. - c.1579C>T r.(?) p.(Arg527Trp) - likely benign g.73831953G>A g.75835872G>A UNC13D(NM_199242.2):c.1579C>T (p.R527W) - UNC13D_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1607G>T r.(?) p.(Arg536Leu) - VUS g.73831848C>A - - - UNC13D_000090 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
?/. - c.1607G>T r.(?) p.(Arg536Leu) - VUS g.73831848C>A - - - UNC13D_000090 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
?/. - c.1759C>T r.(?) p.(Arg587Cys) - VUS g.73831579G>A g.75835498G>A UNC13D(NM_199242.2):c.1759C>T (p.R587C) - UNC13D_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1772C>T r.(?) p.(Pro591Leu) - VUS g.73831566G>A g.75835485G>A UNC13D(NM_199242.2):c.1772C>T (p.P591L) - UNC13D_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1772C>T r.(?) p.(Pro591Leu) - VUS g.73831566G>A - UNC13D(NM_199242.2):c.1772C>T (p.P591L) - UNC13D_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1807G>T r.(?) p.(Glu603*) - pathogenic g.73831531C>A - UNC13D(NM_199242.2):c.1807G>T (p.E603*) - UNC13D_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1828C>T r.(?) p.(Arg610Cys) - VUS g.73831510G>A g.75835429G>A UNC13D(NM_199242.2):c.1828C>T (p.R610C) - UNC13D_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1992+5G>A r.spl? p.? - benign g.73830996C>T g.75834915C>T UNC13D(NM_199242.2):c.1992+5G>A - UNC13D_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1992+11T>C r.(=) p.(=) - benign g.73830990A>G g.75834909A>G UNC13D(NM_199242.2):c.1992+11T>C - UNC13D_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.2046C>A r.(?) p.(Arg682=) - likely benign g.73830744G>T g.75834663G>T UNC13D(NM_199242.2):c.2046C>A (p.R682=) - UNC13D_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2052C>G r.(?) p.(Leu684=) - likely benign g.73830738G>C g.75834657G>C UNC13D(NM_199242.2):c.2052C>G (p.L684=) - UNC13D_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2160A>G r.(?) p.(Ala720=) - likely benign g.73830544T>C g.75834463T>C UNC13D(NM_199242.2):c.2160A>G (p.A720=) - UNC13D_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2180G>A r.(?) p.(Arg727Gln) - VUS g.73830524C>T - UNC13D(NM_199242.2):c.2180G>A (p.R727Q) - UNC13D_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2195T>C r.(?) p.(Leu732Pro) - VUS g.73830509A>G g.75834428A>G UNC13D(NM_199242.2):c.2195T>C (p.L732P) - UNC13D_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2219C>T r.(?) p.(Thr740Met) - VUS g.73830485G>A g.75834404G>A UNC13D(NM_199242.2):c.2219C>T (p.T740M) - UNC13D_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.2242G>T r.(?) p.(Ala748Ser) - VUS g.73830462C>A - - - UNC13D_000089 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
-/. - c.2298+15C>T r.(=) p.(=) - benign g.73830391G>A g.75834310G>A UNC13D(NM_199242.2):c.2298+15C>T - UNC13D_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.2335G>A r.(?) p.(Val779Met) - likely benign g.73830188C>T g.75834107C>T UNC13D(NM_199242.2):c.2335G>A (p.V779M) - UNC13D_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2335G>A r.(?) p.(Val779Met) - likely benign g.73830188C>T g.75834107C>T UNC13D(NM_199242.2):c.2335G>A (p.V779M) - UNC13D_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2341G>A r.(?) p.(Val781Ile) - likely benign g.73830182C>T g.75834101C>T UNC13D(NM_199242.2):c.2341G>A (p.V781I) - UNC13D_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.2341G>A r.(?) p.(Val781Ile) - likely benign g.73830182C>T g.75834101C>T UNC13D(NM_199242.2):c.2341G>A (p.V781I) - UNC13D_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2367+62T>C r.(=) p.(=) - likely benign g.73830094A>G g.75834013A>G UNC13D(NM_199242.2):c.2367+62T>C - UNC13D_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.2380C>T r.(?) p.(Leu794=) - likely benign g.73829114G>A g.75833033G>A UNC13D(NM_199242.2):c.2380C>T (p.L794=) - UNC13D_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.2448-13_2448-12insC r.(=) p.(=) - benign g.73827441_73827442insG g.75831360_75831361insG UNC13D(NM_199242.2):c.2448-13_2448-12insC - UNC13D_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2448-8dup r.(=) p.(=) - benign g.73827440dup g.75831359dup UNC13D(NM_199242.2):c.2448-12_2448-11insC - UNC13D_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.2477_2480del r.(?) p.(Leu826GlnfsTer20) - pathogenic g.73827400_73827403del g.75831319_75831322del UNC13D(NM_199242.2):c.2477_2480delTCAC (p.L826Qfs*20) - UNC13D_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2477_2480del r.(?) p.(Leu826GlnfsTer20) - pathogenic g.73827400_73827403del g.75831319_75831322del UNC13D(NM_199242.2):c.2477_2480delTCAC (p.L826Qfs*20) - UNC13D_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2542A>C r.(?) p.(Ile848Leu) - likely benign g.73827335T>G g.75831254T>G UNC13D(NM_199242.2):c.2542A>C (p.I848L) - UNC13D_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2542A>C r.(?) p.(Ile848Leu) - likely benign g.73827335T>G g.75831254T>G UNC13D(NM_199242.2):c.2542A>C (p.I848L) - UNC13D_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2542A>C r.(?) p.(Ile848Leu) - likely benign g.73827335T>G - UNC13D(NM_199242.2):c.2542A>C (p.I848L) - UNC13D_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2553+5C>G r.spl? p.? - likely benign g.73827319G>C g.75831238G>C UNC13D(NM_199242.2):c.2553+5C>G (p.?, ) - UNC13D_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2553+5C>G r.spl? p.? - likely benign g.73827319G>C g.75831238G>C UNC13D(NM_199242.2):c.2553+5C>G (p.?, ) - UNC13D_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2553+12G>A r.(=) p.(=) - likely benign g.73827312C>T g.75831231C>T UNC13D(NM_199242.2):c.2553+12G>A - UNC13D_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2554-16C>T r.(=) p.(=) - likely benign g.73827266G>A g.75831185G>A UNC13D(NM_199242.2):c.2554-16C>T - UNC13D_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2588G>A r.(?) p.(Gly863Asp) - VUS g.73827216C>T g.75831135C>T - - UNC13D_000076 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140184929 Germline - 9/2794 individuals - 0 - Mohammed Faruq
?/. - c.2588G>A r.(?) p.(Gly863Asp) - VUS g.73827216C>T - - - UNC13D_000076 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
?/. - c.2588G>A r.(?) p.(Gly863Asp) - VUS g.73827216C>T - - - UNC13D_000076 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
?/. - c.2588G>A r.(?) p.(Gly863Asp) - VUS g.73827216C>T - - - UNC13D_000076 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
?/. - c.2588G>A r.(?) p.(Gly863Asp) - VUS g.73827216C>T - - - UNC13D_000076 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
?/. - c.2588G>A r.(?) p.(Gly863Asp) - VUS g.73827216C>T - - - UNC13D_000076 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
-/. - c.2599A>G r.(?) p.(Lys867Glu) - benign g.73827205T>C g.75831124T>C UNC13D(NM_199242.2):c.2599A>G (p.K867E) - UNC13D_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2599A>G r.(?) p.(Lys867Glu) - benign g.73827205T>C g.75831124T>C UNC13D(NM_199242.2):c.2599A>G (p.K867E) - UNC13D_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.2599A>G r.(?) p.(Lys867Glu) - benign g.73827205T>C g.75831124T>C UNC13D(NM_199242.2):c.2599A>G (p.K867E) - UNC13D_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2672T>C r.(?) p.(Leu891Pro) - VUS g.73826696A>G - UNC13D(NM_199242.2):c.2672T>C (p.L891P) - UNC13D_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2695C>T r.(?) p.(Arg899Ter) - pathogenic g.73826673G>A g.75830592G>A UNC13D(NM_199242.2):c.2695C>T (p.R899*) - UNC13D_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.2695C>T r.(?) p.(Arg899Ter) - pathogenic g.73826673G>A g.75830592G>A UNC13D(NM_199242.2):c.2695C>T (p.R899*) - UNC13D_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.2695C>T r.(?) p.(Arg899Ter) - pathogenic g.73826673G>A g.75830592G>A UNC13D(NM_199242.2):c.2695C>T (p.R899*) - UNC13D_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.2764G>A r.(?) p.(Ala922Thr) - likely pathogenic (recessive) g.73826509C>T g.75830428C>T - - UNC13D_000079 - PubMed: Gernez 2019 - - Germline - - - 0 - Johan den Dunnen
?/. - c.2768C>G r.(?) p.(Ser923Cys) - VUS g.73826505G>C g.75830424G>C UNC13D(NM_199242.2):c.2768C>G (p.S923C) - UNC13D_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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