All variants in the NBEA gene

Information The variants shown are described using the NM_015678.4 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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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.48C>G r.(?) p.(Pro16=) - likely benign g.35517005C>G g.34942868C>G NBEA(NM_015678.4):c.48C>G (p.P16=) - NBEA_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.67G>C r.(?) p.(Gly23Arg) - VUS g.35517024G>C g.34942887G>C NBEA(NM_015678.4):c.67G>C (p.G23R) - NBEA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.168C>T r.(?) p.(Leu56=) - likely benign g.35517125C>T g.34942988C>T NBEA(NM_015678.4):c.168C>T (p.L56=) - NBEA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.282G>A r.(?) p.(Thr94=) - likely benign g.35517239G>A g.34943102G>A NBEA(NM_015678.4):c.282G>A (p.T94=) - NBEA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.282G>A r.(?) p.(Thr94=) - likely benign g.35517239G>A g.34943102G>A NBEA(NM_015678.4):c.282G>A (p.T94=) - NBEA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.627+9T>C r.(=) p.(=) - likely benign g.35619193T>C g.35045056T>C NBEA(NM_015678.4):c.627+9T>C - NBEA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.661A>T r.(?) p.(Asn221Tyr) - likely benign g.35619476A>T g.35045339A>T - - NBEA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2317C>T r.(?) p.(Leu773=) - likely benign g.35697692C>T - NBEA(NM_015678.4):c.2317C>T (p.L773=) - NBEA_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2584A>T r.(?) p.(Met862Leu) - likely benign g.35730276A>T g.35156139A>T NBEA(NM_015678.4):c.2584A>T (p.M862L) - NBEA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2618T>C r.(?) p.(Ile873Thr) - likely benign g.35730310T>C g.35156173T>C NBEA(NM_015678.4):c.2618T>C (p.I873T) - NBEA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3002G>A r.(?) p.(Arg1001Gln) - likely benign g.35733310G>A - NBEA(NM_015678.4):c.3002G>A (p.R1001Q) - NBEA_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3141T>G r.(?) p.(Gly1047=) - likely benign g.35733449T>G g.35159312T>G NBEA(NM_015678.4):c.3141T>G (p.G1047=) - NBEA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.3241T>A r.(?) p.(Leu1081Ile) - likely benign g.35733549T>A - NBEA(NM_015678.4):c.3241T>A (p.L1081I) - NBEA_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3580G>A r.(?) p.(Val1194Ile) - likely benign g.35733888G>A g.35159751G>A NBEA(NM_015678.4):c.3580G>A (p.(Val1194Ile)) - NBEA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.3673_3674del r.(?) p.(Leu1225SerfsTer5) - pathogenic g.35733981_35733982del g.35159844_35159845del NBEA(NM_015678.4):c.3673_3674delTT (p.L1225Sfs*5) - NBEA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.3832C>T r.(?) p.(Arg1278Ter) - likely pathogenic g.35734140C>T g.35160003C>T - - NBEA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3833G>A r.(?) p.(Arg1278Gln) - likely benign g.35734141G>A - NBEA(NM_015678.4):c.3833G>A (p.R1278Q) - NBEA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.3994C>T r.(?) p.(Pro1332Ser) - VUS g.35736019C>T g.35161882C>T - - NBEA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.4044A>G r.(?) p.(Leu1348=) - likely benign g.35736069A>G - NBEA(NM_015678.4):c.4044A>G (p.L1348=) - NBEA_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.4631A>G r.(?) p.(Asn1544Ser) - VUS g.35751209A>G g.35177072A>G NBEA(NM_015678.4):c.4631A>G (p.N1544S) - NBEA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.4988A>G r.(?) p.(Asp1663Gly) - likely benign g.35770061A>G g.35195924A>G NBEA(NM_015678.4):c.4988A>G (p.D1663G) - NBEA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.4996G>A r.(?) p.(Val1666Ile) - likely benign g.35770069G>A g.35195932G>A NBEA(NM_015678.4):c.4996G>A (p.V1666I) - NBEA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.5261C>T r.(?) p.(Pro1754Leu) - likely pathogenic g.35770334C>T - NBEA(NM_015678.4):c.5261C>T (p.P1754L) - NBEA_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.5366+17T>C r.(=) p.(=) - likely benign g.35770456T>C - NBEA(NM_015678.4):c.5366+17T>C - NBEA_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.5367-16C>T r.(=) p.(=) - likely benign g.35782821C>T g.35208684C>T NBEA(NM_015678.4):c.5367-16C>T - NBEA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.5839-3del r.spl? p.? - likely benign g.35883662del g.35309525del NBEA(NM_015678.4):c.5839-3delT - NBEA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.5985G>A r.(?) p.(Glu1995=) - likely benign g.35923326G>A g.35349189G>A NBEA(NM_015678.4):c.5985G>A (p.E1995=) - NBEA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.5991A>G r.(?) p.(Val1997=) - likely benign g.35923332A>G g.35349195A>G NBEA(NM_015678.4):c.5991A>G (p.=) - NBEA_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.6238C>T r.(?) p.(Arg2080Ter) - likely pathogenic g.36006464C>T g.35432327C>T - - NBEA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.6316del r.(?) p.(Asp2106MetfsTer2) - likely pathogenic g.36026240del g.35452103del - - NBEA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.6449-4296_6449-4295insAATT r.(=) p.(=) - VUS g.36042241_36042242insAATT g.35468104_35468105insAATT - - NBEA_000001 - - - - Germline - - - - - Yu Sun
-?/. - c.6603G>A r.(?) p.(Glu2201=) - likely benign g.36124631G>A g.35550494G>A NBEA(NM_015678.4):c.6603G>A (p.E2201=) - NBEA_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.6829C>T r.(?) p.(Arg2277Ter) - likely pathogenic g.36129146C>T g.35555009C>T - - NBEA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.7039A>G r.(?) p.(Ile2347Val) - benign g.36158038A>G g.35583901A>G NBEA(NM_015678.4):c.7039A>G (p.I2347V) - NBEA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.7683G>A r.(?) p.(Pro2561=) - likely benign g.36220461G>A g.35646324G>A NBEA(NM_015678.4):c.7683G>A (p.P2561=) - NBEA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.7704C>T r.(?) p.(His2568=) - likely benign g.36220482C>T g.35646345C>T NBEA(NM_015678.4):c.7704C>T (p.H2568=) - NBEA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.7708del r.(?) p.(Cys2570Valfs*18) - likely pathogenic g.36223792del g.35649655del 7708delT - NBEA_000008 - - - - Unknown - - - 0 - IMGAG
-?/. - c.8350G>T r.(?) p.(Val2784Phe) - likely benign g.36239272G>T g.35665135G>T NBEA(NM_015678.4):c.8350G>T (p.V2784F) - NBEA_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.8350G>T r.(?) p.(Val2784Phe) - VUS g.36239272G>T g.35665135G>T NBEA(NM_015678.4):c.8350G>T (p.V2784F) - NBEA_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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