All variants in the L1CAM gene

Information The variants shown are described using the NM_000425.4 transcript reference sequence.

104 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.-468615_*417312dup r.0? p.0? - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
-?/. - c.36C>A r.(?) p.(Leu12=) - likely benign g.153141256G>T g.153875801G>T L1CAM(NM_001278116.2):c.36C>A (p.L12=) - L1CAM_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.39C>T r.(?) p.(Leu13=) - likely benign g.153141253G>A - L1CAM(NM_001278116.1):c.39C>T (p.L13=) - L1CAM_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.113C>T r.(?) p.(Thr38Met) - likely benign g.153138131G>A g.153872676G>A L1CAM(NM_001278116.1):c.113C>T (p.T38M) - L1CAM_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.197+17G>A r.(=) p.(=) - benign g.153138030C>T g.153872575C>T L1CAM(NM_000425.4):c.197+17G>A - L1CAM_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.293C>T r.(?) p.(Thr98Met) - VUS g.153137714G>A g.153872259G>A L1CAM(NM_000425.4):c.293C>T (p.T98M) - L1CAM_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.294G>A r.(?) p.(Thr98=) - likely benign g.153137713C>T - L1CAM(NM_001278116.1):c.294G>A (p.T98=) - L1CAM_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.300C>G r.(?) p.(Asn100Lys) - VUS g.153137707G>C - L1CAM(NM_001278116.1):c.300C>G (p.N100K) - L1CAM_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.351C>T r.(?) p.(Ser117=) - likely benign g.153137656G>A g.153872201G>A L1CAM(NM_001278116.1):c.351C>T (p.S117=) - L1CAM_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.366C>T r.(?) p.(Thr122=) - likely benign g.153137641G>A g.153872186G>A L1CAM(NM_001278116.1):c.366C>T (p.T122=) - L1CAM_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.391A>G r.(?) p.(Met131Val) - likely benign g.153137616T>C g.153872161T>C L1CAM(NM_000425.4):c.391A>G (p.M131V) - L1CAM_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.396C>T r.(?) p.(Ala132=) - likely benign g.153137611G>A - L1CAM(NM_001278116.1):c.396C>T (p.A132=) - L1CAM_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.400+9C>T r.(=) p.(=) - VUS g.153137598G>A g.153872143G>A L1CAM(NM_001278116.1):c.400+9C>T - L1CAM_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.523A>C r.(?) p.(Lys175Gln) - likely benign g.153136512T>G g.153871057T>G L1CAM(NM_001278116.1):c.523A>C (p.K175Q) - L1CAM_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.591T>C r.(?) p.(Asn197=) - likely benign g.153136348A>G g.153870893A>G L1CAM(NM_001278116.1):c.591T>C (p.N197=) - L1CAM_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.604G>A r.(?) p.(Asp202Asn) - pathogenic g.153136335C>T g.153870880C>T L1CAM D202N - L1CAM_000041 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
+/. 6 c.604G>T r.(?) p.(Asp202Tyr) - pathogenic g.153136335C>A g.153870880C>A - - L1CAM_000092 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.649A>C r.(?) p.(Arg217=) - likely benign g.153136290T>G g.153870835T>G L1CAM(NM_000425.4):c.649A>C (p.R217=) - L1CAM_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.667G>T r.(?) p.(Glu223Ter) - pathogenic g.153136272C>A g.153870817C>A L1CAM(NM_001278116.2):c.667G>T (p.E223*) - L1CAM_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.694+1G>A r.spl? p.? ACMG likely pathogenic g.153136244C>T - - - L1CAM_000090 ACMG: PVS1, PM2_SUP - - - Germline ? - - - - Andreas Laner
?/. - c.719C>T r.(?) p.(Pro240Leu) - VUS g.153135930G>A g.153870475G>A L1CAM(NM_001278116.1):c.719C>T (p.P240L) - L1CAM_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.736A>G r.(?) p.(Thr246Ala) - likely benign g.153135913T>C - L1CAM(NM_001278116.1):c.736A>G (p.T246A) - L1CAM_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.816C>T r.(?) p.(Pro272=) - likely benign g.153135686G>A - L1CAM(NM_001278116.1):c.816C>T (p.P272=) - L1CAM_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.855C>T r.(?) p.(Ala285=) - benign g.153135647G>A g.153870192G>A L1CAM(NM_000425.4):c.855C>T (p.A285=) - L1CAM_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.964C>T r.(?) p.(Arg322Trp) - VUS g.153135538G>A - L1CAM(NM_001278116.1):c.964C>T (p.R322W) - L1CAM_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.984C>T r.(?) p.(Thr328=) - likely benign g.153135518G>A g.153870063G>A L1CAM(NM_001278116.1):c.984C>T (p.T328=) - L1CAM_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.985G>A r.(?) p.(Val329Met) - VUS g.153135517C>T g.153870062C>T L1CAM(NM_001278116.1):c.985G>A (p.V329M) - L1CAM_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.985G>A r.(?) p.(Val329Met) - VUS g.153135517C>T g.153870062C>T L1CAM(NM_001278116.1):c.985G>A (p.V329M) - L1CAM_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.991+3dup r.spl? p.? - VUS g.153135508dup g.153870053dup L1CAM(NM_000425.3):c.991+3dupA (p.?) - L1CAM_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.998C>T r.(?) p.(Pro333Leu) - pathogenic g.153135383G>A g.153869928G>A - - L1CAM_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1021A>G r.(?) p.(Ser341Gly) - VUS g.153135360T>C g.153869905T>C L1CAM(NM_000425.3):c.1021A>G (p.(Ser341Gly)) - L1CAM_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1051C>T r.(?) p.(Arg351Cys) - VUS g.153135330G>A g.153869875G>A L1CAM(NM_001278116.2):c.1051C>T (p.R351C) - L1CAM_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1107C>T r.(?) p.(Asn369=) - likely benign g.153135274G>A - L1CAM(NM_001278116.1):c.1107C>T (p.N369=) - L1CAM_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1124-6_1124-3dup r.spl? p.? ACMG pathogenic g.153135121_153135124dup g.153869666_153869669dup NM_001143963.2:c.1109-2dupGCAC - L1CAM_000089 ACMG PVS1, PM2, PM6 PubMed: Anazi 2017 - - Germline - - - 0 - Johan den Dunnen
?/. - c.1124-3C>T r.spl? p.? - VUS g.153135121G>A g.153869666G>A L1CAM(NM_001278116.1):c.1124-3C>T - L1CAM_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1267C>T r.(?) p.(Gln423*) - pathogenic g.153134975G>A - - - L1CAM_000093 - - - - Germline yes - - 0 - Rongyue Wang
?/. - c.1268-114C>G r.(=) p.(=) - VUS g.153134521G>C g.153869066= - - L1CAM_000004 - - - - Germline - - - - - Yu Sun
?/. - c.1268-114C>G r.(=) p.(=) - VUS g.153134521G>C g.153869066= - - L1CAM_000004 - - - - Germline - - - - - Yu Sun
-/. - c.1268-10C>T r.(=) p.(=) - benign g.153134417G>A g.153868962G>A L1CAM(NM_000425.4):c.1268-10C>T - L1CAM_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1414G>A r.(?) p.(Glu472Lys) - VUS g.153134148C>T g.153868693C>T L1CAM(NM_001278116.1):c.1414G>A (p.E472K) - L1CAM_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.1453C>T r.(?) p.(Arg485Ter) - pathogenic g.153134109G>A g.153868654G>A - - L1CAM_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1547-18C>T r.(=) p.(=) - likely benign g.153133931G>A - L1CAM(NM_001278116.2):c.1547-18C>T - L1CAM_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.1547-1G>C r.spl? p.? - pathogenic g.153133914C>G - L1CAM(NM_001278116.2):c.1547-1G>C - L1CAM_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1570C>T r.(?) p.(Pro524Ser) - pathogenic g.153133890G>A g.153868435G>A L1CAM(NM_001278116.2):c.1570C>T (p.P524S) - L1CAM_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1574G>A r.(?) p.(Arg525His) - likely benign g.153133886C>T g.153868431C>T L1CAM(NM_001278116.1):c.1574G>A (p.R525H) - L1CAM_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1781G>A r.(?) p.(Ser594Asn) - likely benign g.153133500C>T g.153868045C>T L1CAM(NM_000425.3):c.1781G>A (p.(Ser594Asn)) - L1CAM_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1786G>A r.(?) p.(Glu596Lys) - likely benign g.153133495C>T g.153868040C>T L1CAM(NM_001278116.1):c.1786G>A (p.E596K) - L1CAM_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1814A>G r.(?) p.(Gln605Arg) - likely benign g.153133467T>C - L1CAM(NM_001278116.1):c.1814A>G (p.Q605R) - L1CAM_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1853T>A r.(?) p.(Leu618Gln) - VUS g.153133341A>T g.153867886A>T L1CAM(NM_000425.3):c.1853T>A (p.(Leu618Gln)) - L1CAM_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1863C>T r.(?) p.(Ser621=) - likely benign g.153133331G>A - L1CAM(NM_001278116.1):c.1863C>T (p.S621=) - L1CAM_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1909C>T r.(?) p.(Pro637Ser) - VUS g.153133285G>A g.153867830G>A - - L1CAM_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1993C>G r.(?) p.(Leu665Val) - VUS g.153132955G>C g.153867500G>C L1CAM(NM_001278116.1):c.1993C>G (p.L665V) - L1CAM_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2072C>T r.(?) p.(Ala691Val) - VUS g.153132876G>A g.153867421G>A - - L1CAM_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 17 c.2205G>A r.(?) p.(Trp735*) - likely pathogenic g.153132512C>T g.153867057C>T - - L1CAM_000005 - - - - Germline - - - 0 - Dr. Alexandra Wey-Fabrizius
-/. - c.2209-6C>T r.(=) p.(=) - benign g.153132332G>A g.153866877G>A L1CAM(NM_000425.4):c.2209-6C>T - L1CAM_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2211G>A r.(?) p.(Pro737=) - likely benign g.153132324C>T g.153866869C>T L1CAM(NM_001278116.1):c.2211G>A (p.P737=), L1CAM(NM_001278116.2):c.2211G>A (p.P737=) - L1CAM_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2211G>A r.(?) p.(Pro737=) - benign g.153132324C>T g.153866869C>T L1CAM(NM_001278116.1):c.2211G>A (p.P737=), L1CAM(NM_001278116.2):c.2211G>A (p.P737=) - L1CAM_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2232C>T r.(?) p.(Asn744=) - likely benign g.153132303G>A - L1CAM(NM_001278116.1):c.2232C>T (p.N744=) - L1CAM_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 18 c.2278C>T r.(?) p.(Arg760Ter) - pathogenic g.153132257G>A g.153866802G>A - - L1CAM_000091 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.2295G>A r.(?) p.(Glu765=) - likely benign g.153132240C>T g.153866785C>T L1CAM(NM_001278116.1):c.2295G>A (p.E765=) - L1CAM_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2302G>A r.(?) p.(Val768Ile) - likely benign g.153132233C>T g.153866778C>T L1CAM(NM_000425.3):c.2302G>A (p.(Val768Ile)), L1CAM(NM_000425.4):c.2302G>A (p.V768I), L1CAM(NM_001278116.2):c.2302G>A (p.V768I) - L1CAM_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.2302G>A r.(?) p.(Val768Ile) - likely benign g.153132233C>T g.153866778C>T L1CAM(NM_000425.3):c.2302G>A (p.(Val768Ile)), L1CAM(NM_000425.4):c.2302G>A (p.V768I), L1CAM(NM_001278116.2):c.2302G>A (p.V768I) - L1CAM_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2302G>A r.(?) p.(Val768Ile) - likely benign g.153132233C>T g.153866778C>T L1CAM(NM_000425.3):c.2302G>A (p.(Val768Ile)), L1CAM(NM_000425.4):c.2302G>A (p.V768I), L1CAM(NM_001278116.2):c.2302G>A (p.V768I) - L1CAM_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.2302G>A r.(?) p.(Val768Ile) - VUS g.153132233C>T g.153866778C>T - - L1CAM_000016 conflicting interpretations of pathogenicity; 10 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs36021462 Germline - 10/2795 individuals - 0 - Mohammed Faruq
?/. - c.2302G>A r.(?) p.(Val768Ile) - VUS g.153132233C>T g.153866778C>T - - L1CAM_000016 conflicting interpretations of pathogenicity; 11 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs36021462 Germline - 11/2795 individuals - 0 - Mohammed Faruq
-/. - c.2307C>T r.(?) p.(Ser769=) - benign g.153132228G>A g.153866773G>A L1CAM(NM_000425.4):c.2307C>T (p.S769=) - L1CAM_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2371G>A r.(?) p.(Val791Ile) - likely benign g.153132164C>T - L1CAM(NM_001278116.1):c.2371G>A (p.V791I) - L1CAM_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2402A>G r.(?) p.(Gln801Arg) - VUS g.153132133T>C g.153866678T>C L1CAM(NM_001278116.1):c.2402A>G (p.Q801R) - L1CAM_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2526G>T r.(?) p.(Lys842Asn) - VUS g.153131180C>A g.153865725C>A L1CAM(NM_001278116.2):c.2526G>T (p.K842N) - L1CAM_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2537G>A r.(?) p.(Arg846His) - likely benign g.153131169C>T - L1CAM(NM_001278116.1):c.2537G>A (p.R846H) - L1CAM_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2553G>A r.(?) p.(Thr851=) - likely benign g.153130950C>T g.153865495C>T L1CAM(NM_001278116.1):c.2553G>A (p.T851=) - L1CAM_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2565G>T r.(?) p.(Glu855Asp) - likely benign g.153130938C>A g.153865483C>A L1CAM(NM_001278116.1):c.2565G>T (p.E855D) - L1CAM_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2605G>A r.(?) p.(Asp869Asn) - VUS g.153130898C>T g.153865443C>T - - L1CAM_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.2643C>A r.(?) p.(Ile881=) - likely benign g.153130860G>T g.153865405G>T L1CAM(NM_001278116.1):c.2643C>A (p.I881=) - L1CAM_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2657G>A r.(?) p.(Arg886Gln) - likely benign g.153130846C>T - L1CAM(NM_001278116.1):c.2657G>A (p.R886Q) - L1CAM_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2722G>A r.(?) p.(Glu908Lys) - likely benign g.153130781C>T g.153865326C>T L1CAM(NM_001278116.1):c.2722G>A (p.E908K) - L1CAM_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2763C>T r.(?) p.(Pro921=) - likely benign g.153130652G>A g.153865197G>A L1CAM(NM_001278116.1):c.2763C>T (p.P921=) - L1CAM_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2872+4C>A r.spl? p.? - likely benign g.153130539G>T g.153865084G>T L1CAM(NM_001278116.1):c.2872+4C>A - L1CAM_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2920G>A r.(?) p.(Glu974Lys) - likely benign g.153130402C>T - L1CAM(NM_001278116.1):c.2920G>A (p.E974K) - L1CAM_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2966A>G r.(?) p.(Tyr989Cys) - VUS g.153130356T>C g.153864901T>C L1CAM(NM_001278116.2):c.2966A>G (p.Y989C) - L1CAM_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.3081G>T r.(?) p.(Ala1027=) - likely benign g.153130125C>A g.153864670C>A L1CAM(NM_001278116.1):c.3081G>T (p.A1027=) - L1CAM_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3150G>T r.(?) p.(Leu1050Phe) - likely benign g.153130056C>A - L1CAM(NM_001278116.1):c.3150G>T (p.L1050F) - L1CAM_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3192G>T r.(?) p.(Ser1064=) - likely benign g.153129907C>A g.153864452C>A L1CAM(NM_001278116.1):c.3192G>T (p.S1064=) - L1CAM_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3228G>A r.(?) p.(Thr1076=) - likely benign g.153129871C>T g.153864416C>T L1CAM(NM_001278116.1):c.3228G>A (p.T1076=) - L1CAM_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3314A>G r.(?) p.(Asn1105Ser) - VUS g.153129785T>C g.153864330T>C L1CAM(NM_000425.3):c.3314A>G (p.(Asn1105Ser)) - L1CAM_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.3323-84C>T r.(=) p.(=) - VUS g.153129556G>A g.153864101G>A - - L1CAM_000001 - - - - Germline - - - - - Yu Sun
?/. - c.3323-84C>T r.(=) p.(=) - VUS g.153129556G>A g.153864101G>A - - L1CAM_000001 - - - - Germline - - - - - Yu Sun
?/. - c.3323-19dup r.(=) p.(=) - VUS g.153129496dup g.153864041dup L1CAM(NM_000425.4):c.3323-19_3323-18insG, L1CAM(NM_001278116.2):c.3323-19dupG - L1CAM_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3323-19dup r.(=) p.(=) - likely benign g.153129496dup g.153864041dup L1CAM(NM_000425.4):c.3323-19_3323-18insG, L1CAM(NM_001278116.2):c.3323-19dupG - L1CAM_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3327C>T r.(?) p.(Arg1109=) - likely benign g.153129468G>A g.153864013G>A L1CAM(NM_001278116.1):c.3327C>T (p.R1109=) - L1CAM_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3351C>T r.(?) p.(Phe1117=) - likely benign g.153129444G>A g.153863989G>A L1CAM(NM_001278116.1):c.3351C>T (p.F1117=) - L1CAM_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3444C>T r.(?) p.(Gly1148=) - likely benign g.153129351G>A g.153863896G>A L1CAM(NM_001278116.1):c.3444C>T (p.G1148=) - L1CAM_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.3458-34C>T r.(=) p.(=) - benign g.153129038G>A g.153863583G>A - - L1CAM_000069 85 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs7052999 Germline - 85/2793 individuals - 0 - Mohammed Faruq
-/. - c.3458-34C>T r.(=) p.(=) - benign g.153129038G>A g.153863583G>A - - L1CAM_000069 70 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs7052999 Germline - 70/2793 individuals - 0 - Mohammed Faruq
-?/. - c.3519C>T r.(?) p.(Phe1173=) - likely benign g.153128943G>A - L1CAM(NM_001278116.1):c.3519C>T (p.F1173=) - L1CAM_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3541_3543del r.(?) p.(Glu1181del) - VUS g.153128340_153128342del - - - L1CAM_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3549C>T r.(?) p.(Asn1183=) - likely benign g.153128343G>A g.153862888G>A L1CAM(NM_000425.4):c.3549C>T (p.N1183=) - L1CAM_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.3589G>C r.(?) p.(Gly1197Arg) - VUS g.153128303C>G g.153862848C>G L1CAM(NM_000425.4):c.3589G>C (p.G1197R), L1CAM(NM_001278116.2):c.3589G>C (p.G1197R) - L1CAM_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3589G>C r.(?) p.(Gly1197Arg) - likely benign g.153128303C>G g.153862848C>G L1CAM(NM_000425.4):c.3589G>C (p.G1197R), L1CAM(NM_001278116.2):c.3589G>C (p.G1197R) - L1CAM_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3601C>T r.(?) p.(Pro1201Ser) - likely benign g.153128291G>A g.153862836G>A L1CAM(NM_000425.3):c.3601C>T (p.(Pro1201Ser)) - L1CAM_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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