All transcript variants in gene NBEA

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

25 entries on 1 page. Showing entries 1 - 25.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.168C>T likely benign r.(?) p.(=) g.35517125C>T - NBEA(NM_015678.4):c.168C>T (p.L56=) - NBEA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.282G>A likely benign r.(?) p.(=) g.35517239G>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 likely benign r.(?) p.(=) g.35517239G>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 likely benign r.(=) p.(=) g.35619193T>C - NBEA(NM_015678.4):c.627+9T>C - NBEA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.661A>T likely benign r.(?) p.(Asn221Tyr) g.35619476A>T - NBEA(NM_015678):c.661A>T (p.(Asn221Tyr)) - NBEA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2618T>C likely benign r.(?) p.(Ile873Thr) g.35730310T>C - NBEA(NM_015678.4):c.2618T>C (p.I873T) - NBEA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.3141T>G likely benign r.(?) p.(=) g.35733449T>G - NBEA(NM_015678.4):c.3141T>G (p.=) - NBEA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.3580G>A likely benign r.(?) p.(Val1194Ile) g.35733888G>A - NBEA(NM_015678.4):c.3580G>A (p.(Val1194Ile)) - NBEA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.3673_3674del pathogenic r.(?) p.(Leu1225Serfs*5) g.35733981_35733982del - NBEA(NM_015678.4):c.3673_3674delTT (p.L1225Sfs*5) - NBEA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.3832C>T likely pathogenic r.(?) p.(Arg1278*) g.35734140C>T - NBEA(NM_015678.4):c.3832C>T (p.Arg1278*) - NBEA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.3994C>T VUS r.(?) p.(Pro1332Ser) g.35736019C>T - NBEA(NM_015678):c.3994C>T (p.(Pro1332Ser)) - NBEA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.4244C>T likely benign r.(?) p.(Thr1415Met) g.35745410C>T - NBEA(NM_015678.4):c.4244C>T (p.?) - NBEA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.4988A>G likely benign r.(?) p.(Asp1663Gly) g.35770061A>G - NBEA(NM_015678.4):c.4988A>G (p.D1663G) - NBEA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.4996G>A likely benign r.(?) p.(Val1666Ile) g.35770069G>A - NBEA(NM_015678.4):c.4996G>A (p.V1666I) - NBEA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.5367-16C>T likely benign r.(=) p.(=) g.35782821C>T - NBEA(NM_015678.4):c.5367-16C>T - NBEA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.5839-3del likely benign r.spl? p.? g.35883662del - NBEA(NM_015678.4):c.5839-6delT - NBEA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.5985G>A likely benign r.(?) p.(=) g.35923326G>A - NBEA(NM_015678.4):c.5985G>A (p.E1995=) - NBEA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.5991A>G likely benign r.(?) p.(=) g.35923332A>G - NBEA(NM_015678.4):c.5991A>G (p.=) - NBEA_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.6449-4299_6449-4298insATTA - - p.(=) g.36042238_36042239insATTA g.35468101_35468102insATTA - - NBEA_000001 - - - - Germline - - - - - Yu Sun
+?/. - c.6829C>T likely pathogenic r.(?) p.(Arg2277*) g.36129146C>T - NBEA(NM_015678.4):c.6829C>T (p.Arg2277*) - NBEA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.7039A>G benign r.(?) p.(Ile2347Val) g.36158038A>G - NBEA(NM_015678.4):c.7039A>G (p.I2347V) - NBEA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.7462G>T VUS r.(?) p.(Glu2488*) g.36202230G>T - NBEA(NM_015678.4):c.7462G>T (p.(Glu2488Ter)) - NBEA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.7683G>A likely benign r.(?) p.(=) g.36220461G>A - NBEA(NM_015678.4):c.7683G>A (p.P2561=) - NBEA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.7704C>T likely benign r.(?) p.(=) g.36220482C>T - NBEA(NM_015678.4):c.7704C>T (p.H2568=) - NBEA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.7708del likely pathogenic r.(?) p.(Cys2570Valfs*18) g.36223792del - 7708delT - NBEA_000008 - - - - Unknown - - - 0 - IMGAG
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