All variants in the NBEA gene

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

114 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.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.55C>T r.(?) p.(Leu19Phe) - likely benign g.35517012C>T - NBEA(NM_015678.4):c.55C>T (p.(Leu19Phe)) - NBEA_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.67G>C r.(?) p.(Gly23Arg) - VUS g.35517024G>C g.34942887G>C NBEA(NM_015678.5):c.67G>C (p.G23R) - NBEA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.73G>A r.(?) p.(Ala25Thr) - likely benign g.35517030G>A - NBEA(NM_015678.4):c.73G>A (p.A25T) - NBEA_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.142G>A r.(?) p.(Ala48Thr) - likely benign g.35517099G>A - NBEA(NM_001385012.1):c.142G>A (p.(Ala48Thr)), NBEA(NM_015678.4):c.142G>A (p.A48T) - NBEA_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.142G>A r.(?) p.(Ala48Thr) - likely benign g.35517099G>A - NBEA(NM_001385012.1):c.142G>A (p.(Ala48Thr)), NBEA(NM_015678.4):c.142G>A (p.A48T) - NBEA_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.143C>T r.(?) p.(Ala48Val) - likely benign g.35517100C>T - NBEA(NM_015678.4):c.143C>T (p.(Ala48Val)) - NBEA_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - 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(NM_015678.5):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(NM_015678.5):c.282G>A (p.T94=) - NBEA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.282G>A r.(?) p.(Thr94=) - likely benign g.35517239G>A - NBEA(NM_015678.4):c.282G>A (p.T94=), NBEA(NM_015678.5):c.282G>A (p.T94=) - NBEA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.295-44171T>A r.(=) p.(=) - likely benign g.35570899T>A - NBEA(NM_001385012.1):c.295-44171T>A - NBEA_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - 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.648A>T r.(?) p.(Leu216Phe) - VUS g.35619463A>T - NBEA(NM_015678.5):c.648A>T (p.L216F) - NBEA_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - 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.856A>G r.(?) p.(Ser286Gly) - VUS g.35624416A>G - NBEA(NM_015678.5):c.856A>G (p.S286G) - NBEA_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1185A>C r.(?) p.(Glu395Asp) - likely benign g.35632946A>C - NBEA(NM_015678.4):c.1185A>C (p.(Glu395Asp)) - NBEA_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 10 c.1460A>C r.(?) p.(His487Pro) ACMG VUS g.35644878A>C g.35070741A>C - - NBEA_000103 ACMG: PS2_SUP, PM2_SUP, PP2 - - - De novo - - - - - Andreas Laner
?/. - c.1702A>G r.(?) p.(Arg568Gly) - VUS g.35683448A>G - NBEA(NM_015678.4):c.1702A>G (p.R568G) - NBEA_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2291A>C r.(?) p.(Gln764Pro) - VUS g.35697666A>C - NBEA(NM_015678.4):c.2291A>C (p.(Gln764Pro)) - NBEA_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - 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.2336+7del r.(=) p.(=) - likely benign g.35697718del - NBEA(NM_001385012.1):c.2336+7del, NBEA(NM_015678.4):c.2336+7delT - NBEA_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2336+7del r.(=) p.(=) - likely benign g.35697718del - NBEA(NM_001385012.1):c.2336+7del, NBEA(NM_015678.4):c.2336+7delT - NBEA_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2406A>C r.(?) p.(Thr802=) - likely benign g.35716475A>C - NBEA(NM_015678.4):c.2406A>C (p.T802=) - NBEA_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2413G>C r.(?) p.(Val805Leu) - VUS g.35716482G>C - NBEA(NM_015678.5):c.2413G>C (p.V805L) - NBEA_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - 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.2652-3T>C r.spl? p.? - likely benign g.35731212T>C - NBEA(NM_015678.5):c.2652-3T>C - NBEA_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2753A>C r.(?) p.(Asn918Thr) - likely benign g.35731316A>C - NBEA(NM_015678.4):c.2753A>C (p.(Asn918Thr)) - NBEA_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2753A>G r.(?) p.(Asn918Ser) - likely benign g.35731316A>G - NBEA(NM_015678.5):c.2753A>G (p.N918S) - NBEA_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2782A>G r.(?) p.(Ile928Val) - VUS g.35731345A>G - NBEA(NM_015678.5):c.2782A>G (p.I928V) - NBEA_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2866G>A r.(?) p.(Glu956Lys) - likely benign g.35733174G>A - NBEA(NM_015678.4):c.2866G>A (p.(Glu956Lys)) - NBEA_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - 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.3081del r.(?) p.(Leu1027Phefs*30) - pathogenic g.35733389del - - - NBEA_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3233C>T r.(?) p.(Pro1078Leu) - likely benign g.35733541C>T - NBEA(NM_015678.4):c.3233C>T (p.P1078L) - NBEA_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - 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.3277G>C r.(?) p.(Glu1093Gln) - VUS g.35733585G>C - NBEA(NM_001385012.1):c.3277G>C (p.(Glu1093Gln)) - NBEA_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3341G>C r.(?) p.(Ser1114Thr) - likely benign g.35733649G>C - NBEA(NM_015678.5):c.3341G>C (p.S1114T) - NBEA_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.3355A>T r.(?) p.(Lys1119*) - likely pathogenic g.35733663A>T - - - NBEA_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3580G>A r.(?) p.(Val1194Ile) - likely benign g.35733888G>A g.35159751G>A NBEA(NM_015678.4):c.3580G>A (p.(Val1194Ile)), NBEA(NM_015678.5):c.3580G>A (p.V1194I) - NBEA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3580G>A r.(?) p.(Val1194Ile) - likely benign g.35733888G>A - NBEA(NM_015678.4):c.3580G>A (p.(Val1194Ile)), NBEA(NM_015678.5):c.3580G>A (p.V1194I) - NBEA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - 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.3770C>T r.(?) p.(Ala1257Val) - VUS g.35734078C>T - NBEA(NM_015678.5):c.3770C>T (p.A1257V) - NBEA_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3826G>C r.(?) p.(Glu1276Gln) - VUS g.35734134G>C - NBEA(NM_015678.4):c.3826G>C (p.(Glu1276Gln)) - NBEA_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - 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(NM_015678.5):c.3833G>A (p.R1278Q) - NBEA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3833G>A r.(?) p.(Arg1278Gln) - likely benign g.35734141G>A - NBEA(NM_015678.4):c.3833G>A (p.R1278Q), NBEA(NM_015678.5):c.3833G>A (p.R1278Q) - NBEA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3833G>A r.(?) p.(Arg1278Gln) - likely benign g.35734141G>A - NBEA(NM_015678.4):c.3833G>A (p.R1278Q), NBEA(NM_015678.5):c.3833G>A (p.R1278Q) - NBEA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.3861+9C>T r.(=) p.(=) - likely benign g.35734178C>T - NBEA(NM_001385012.1):c.3861+9C>T - NBEA_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3888A>G r.(?) p.(Gln1296=) - likely benign g.35735913A>G - NBEA(NM_015678.4):c.3888A>G (p.Q1296=) - NBEA_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3913T>A r.(?) p.(Leu1305Ile) - likely benign g.35735938T>A - NBEA(NM_015678.4):c.3913T>A (p.(Leu1305Ile)) - NBEA_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3994C>T r.(?) p.(Pro1332Ser) - VUS g.35736019C>T g.35161882C>T - - NBEA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - 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.4192G>T r.(?) p.(Gly1398*) - pathogenic g.35738605G>T - NBEA(NM_015678.5):c.4192G>T (p.G1398*) - NBEA_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.4212C>T r.(?) p.(Leu1404=) - likely benign g.35738625C>T - NBEA(NM_015678.4):c.4212C>T (p.L1404=) - NBEA_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4244C>T r.(?) p.(Thr1415Met) - likely benign g.35745410C>T - NBEA(NM_015678.5):c.4244C>T (p.T1415M) - NBEA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.4424-3T>A r.spl? p.? - VUS g.35747598T>A - NBEA(NM_015678.4):c.4424-3T>A - NBEA_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.4511C>T r.(?) p.(Pro1504Leu) - benign g.35747688C>T - NBEA(NM_015678.5):c.4511C>T (p.P1504L) - NBEA_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.4519G>C r.(?) p.(Val1507Leu) - likely benign g.35747696G>C - NBEA(NM_015678.4):c.4519G>C (p.V1507L) - NBEA_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4631A>G r.(?) p.(Asn1544Ser) - VUS g.35751209A>G g.35177072A>G NBEA(NM_015678.5):c.4631A>G (p.N1544S) - NBEA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.4633C>T r.(?) p.(Arg1545Cys) ACMG VUS g.35751211C>T g.35177074C>T - - NBEA_000079 ACMG: PM2_SUP, PP2 - - - Germline ? - - - - Andreas Laner
?/. - c.4831+1G>T r.spl? p.? - VUS g.35756666G>T - NBEA(NM_015678.5):c.4831+1G>T - NBEA_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.4831+1G>T r.spl? p.? - likely pathogenic g.35756666G>T - NBEA(NM_015678.5):c.4831+1G>T - NBEA_000043 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_001385012.1):c.4988A>G (p.(Asp1663Gly)), NBEA(NM_015678.4):c.4988A>G (p.D1663G) - NBEA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.4988A>G r.(?) p.(Asp1663Gly) - likely benign g.35770061A>G - NBEA(NM_001385012.1):c.4988A>G (p.(Asp1663Gly)), NBEA(NM_015678.4):c.4988A>G (p.D1663G) - NBEA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - 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.5059A>C r.(?) p.(Asn1687His) - VUS g.35770132A>C - - - NBEA_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.5143_5144dup r.(?) p.(Gln1715Hisfs*5) - pathogenic g.35770216_35770217dup - NBEA(NM_015678.4):c.5143_5144dupCA (p.Q1715Hfs*5) - NBEA_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.5261C>T r.(?) p.(Pro1754Leu) - likely pathogenic g.35770334C>T - NBEA(NM_015678.5):c.5261C>T (p.P1754L) - NBEA_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.5306A>G r.(?) p.(Asp1769Gly) - VUS g.35770379A>G - NBEA(NM_015678.4):c.5306A>G (p.(Asp1769Gly)) - NBEA_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.5333C>G r.(?) p.(Ala1778Gly) - likely benign g.35770406C>G - NBEA(NM_015678.5):c.5333C>G (p.A1778G) - NBEA_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.5344A>G r.(?) p.(Met1782Val) - likely benign g.35770417A>G - NBEA(NM_015678.4):c.5344A>G (p.(Met1782Val)) - NBEA_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.5366+1G>A r.spl? p.? - likely pathogenic g.35770440G>A - NBEA(NM_015678.5):c.5366+1G>A - NBEA_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - 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.5933T>C r.(?) p.(Ile1978Thr) - VUS g.35923274T>C - NBEA(NM_001385012.1):c.5933T>C (p.(Ile1978Thr)) - NBEA_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.5939G>A r.(?) p.(Arg1980His) - VUS g.35923280G>A - NBEA(NM_001385012.1):c.5939G>A (p.(Arg1980His)) - NBEA_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - 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 - - - - - 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.V1997=) - NBEA_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.6019T>A r.(?) p.(Cys2007Ser) - likely benign g.35926300T>A - NBEA(NM_015678.4):c.6019T>A (p.(Cys2007Ser)) - NBEA_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.6023C>T r.(?) p.(Ala2008Val) - likely benign g.35926304C>T - NBEA(NM_015678.4):c.6023C>T (p.(Ala2008Val)) - NBEA_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.6078T>A r.(?) p.(Ser2026Arg) - VUS g.35926359T>A - NBEA(NM_015678.5):c.6078T>A (p.S2026R) - NBEA_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.6179+18C>T r.(=) p.(=) - likely benign g.35926478C>T - NBEA(NM_015678.4):c.6179+18C>T - NBEA_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.6183A>G r.(?) p.(Gln2061=) - likely benign g.36006409A>G - NBEA(NM_015678.4):c.6183A>G (p.Q2061=) - NBEA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.6188A>G r.(?) p.(His2063Arg) - likely benign g.36006414A>G - NBEA(NM_015678.4):c.6188A>G (p.H2063R) - NBEA_000046 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(NM_001385012.1):c.6316delG (p.D2106Mfs*2) - NBEA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.6316del r.(?) p.(Asp2106MetfsTer2) - likely pathogenic g.36026240del - NBEA(NM_001385012.1):c.6316delG (p.D2106Mfs*2) - NBEA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.6449-4296_6449-4295insAATT r.(=) p.(=) - VUS g.36042241_36042242insAATT g.35468104_35468105insAATT - - NBEA_000001 - - - - Germline - - - - - Yu Sun
-?/. - c.6585+2872C>G r.(=) p.(=) - likely benign g.36049545C>G - NBEA(NM_015678.5):c.6585+2872C>G - NBEA_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - 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.6630C>T r.(?) p.(Ser2210=) - likely benign g.36124658C>T - NBEA(NM_015678.4):c.6630C>T (p.S2210=) - NBEA_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.6637C>T r.(?) p.(Arg2213*) - likely pathogenic g.36124665C>T - NBEA(NM_015678.5):c.6637C>T (p.R2213*) - NBEA_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.6806+4A>T r.spl? p.? - likely benign g.36125173A>T - NBEA(NM_001385012.1):c.6806+4A>T - NBEA_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.6829C>T r.(?) p.(Arg2277Ter) - likely pathogenic g.36129146C>T g.35555009C>T - - NBEA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.7029A>C r.(?) p.(Leu2343=) - likely benign g.36141148A>C - NBEA(NM_015678.4):c.7029A>C (p.=) - NBEA_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.7036-10C>T r.(=) p.(=) - likely benign g.36158025C>T - NBEA(NM_015678.4):c.7036-10C>T - NBEA_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.7555C>A r.(?) p.(His2519Asn) - likely benign g.36202323C>A - NBEA(NM_015678.4):c.7555C>A (p.H2519N) - NBEA_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.7618-345A>G r.(=) p.(=) - VUS g.36220051A>G - NBEA(NM_001385012.1):c.7663A>G (p.(Thr2555Ala)) - NBEA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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