Unique variants in the CBL gene

Information The variants shown are described using the NM_005188.3 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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Effect     

Reported     

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     
-?/. 1 - c.-39_-35dup r.(?) p.(=) - likely benign g.119077089_119077093dup g.119206379_119206383dup CBL(NM_005188.3):c.-40_-36dupGAGCC - CBL_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.18G>T r.(?) p.(Lys6Asn) - VUS g.119077145G>T g.119206435G>T CBL(NM_005188.3):c.18G>T (p.K6N) - CBL_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.51C>T r.(?) p.(Ser17=) - likely benign g.119077178C>T g.119206468C>T CBL(NM_005188.3):c.51C>T (p.S17=) - CBL_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.122_127dup r.(?) p.(His41_His42dup) - likely benign g.119077249_119077254dup g.119206539_119206544dup CBL(NM_005188.3):c.122_127dupACCACC (p.H41_H42dup) - CBL_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/. 2 - c.125_127del r.(?) p.(His42del) - benign g.119077252_119077254del g.119206542_119206544del CBL(NM_005188.3):c.125_127delACC (p.H42del) - CBL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 2 - c.125_127dup r.(?) p.(His42dup) - likely benign g.119077252_119077254dup g.119206542_119206544dup CBL(NM_005188.3):c.105_106insCAC (p.(His42dup)), CBL(NM_005188.3):c.125_127dupACC (p.H42dup) - CBL_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
?/. 1 - c.196-2A>T r.spl? p.? - VUS g.119103156A>T - - - CBL_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.223C>G r.(?) p.(Leu75Val) - likely benign g.119103185C>G g.119232475C>G CBL(NM_005188.3):c.223C>G (p.L75V) - CBL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.286C>T r.(?) p.(Arg96Cys) - VUS g.119103248C>T g.119232538C>T CBL(NM_005188.3):c.286C>T (p.R96C) - CBL_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.287G>A r.(?) p.(Arg96His) - VUS g.119103249G>A g.119232539G>A CBL(NM_005188.3):c.287G>A (p.R96H) - CBL_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.292A>G r.(?) p.(Ile98Val) - likely benign g.119103254A>G g.119232544A>G - - CBL_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.477C>T r.(?) p.(Ser159=) - likely benign g.119142478C>T - CBL(NM_005188.3):c.477C>T (p.S159=) - CBL_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.513T>C r.(?) p.(Ser171=) - benign g.119142514T>C g.119271804T>C CBL(NM_005188.3):c.513T>C (p.S171=, p.(=)) - CBL_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 - c.578C>T r.(?) p.(Ala193Val) - VUS g.119142579C>T g.119271869C>T - - CBL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.591-17C>T r.(=) p.(=) - likely benign g.119144561C>T g.119273851C>T CBL(NM_005188.3):c.591-17C>T - CBL_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.616C>T r.(?) p.(Arg206Ter) - VUS g.119144603C>T g.119273893C>T CBL(NM_005188.3):c.616C>T (p.R206*) - CBL_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.819G>A r.(?) p.(Thr273=) - benign g.119145613G>A g.119274903G>A CBL(NM_005188.3):c.819G>A (p.T273=) - CBL_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.869+4A>G r.spl? p.? - benign g.119145667A>G g.119274957A>G CBL(NM_005188.3):c.869+4A>G - CBL_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 2 - c.869+15G>A r.(=) p.(=) - likely benign g.119145678G>A g.119274968G>A CBL(NM_005188.3):c.869+15G>A - CBL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.881G>T r.(?) p.(Arg294Leu) - VUS g.119146718G>T - CBL(NM_005188.3):c.881G>T (p.R294L) - CBL_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 - c.1095+19G>T r.(=) p.(=) - benign g.119148573G>T g.119277863G>T CBL(NM_005188.3):c.1095+19G>T - CBL_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
./. 1 - c.1096-2A>T r.spl? p.? - pathogenic g.119148874A>T g.119278164A>T - - CBL_000016 splice variant PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.1096G>A r.(?) p.(Glu366Lys) - likely pathogenic g.119148876G>A g.119278166G>A - - CBL_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/? 1 ? c.1100A>C r.(?) p.(Gln367Pro) - likely pathogenic g.119148880A>C g.119278170A>C Gln367Pro - CBL_000001 - PubMed: Martinelli 2010 - - Unknown - - - - - LOVD
+/. 1 - c.1111T>A r.(?) p.(Tyr371Asn) - pathogenic g.119148891T>A g.119278181T>A - - CBL_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1111T>C r.(?) p.(Tyr371His) - pathogenic g.119148891T>C g.119278181T>C - - CBL_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1112_1114del r.(?) p.(Tyr371del) - likely pathogenic g.119148892_119148894del - CBL(NM_005188.3):c.1112_1114delACT (p.Y371del) - CBL_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1127C>T r.(?) p.(Ser376Phe) - VUS g.119148907C>T g.119278197C>T CBL(NM_005188.3):c.1127C>T (p.S376F) - CBL_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/? 1 ? c.1144A>G r.(?) p.(Lys382Glu) - likely pathogenic g.119148924A>G g.119278214A>G Lys382Glu - CBL_000002 - PubMed: Martinelli 2010 - - Unknown - - - - - LOVD
?/. 1 - c.1150T>C r.(?) p.(Cys384Arg) - VUS g.119148930T>C g.119278220T>C - - CBL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1156G>A r.(?) p.(Glu386Lys) - VUS g.119148936G>A g.119278226G>A - - CBL_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1160A>G r.(?) p.(Asn387Ser) - VUS g.119148940A>G - CBL(NM_005188.3):c.1160A>G (p.N387S) - CBL_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/? 1 ? c.1168G>T r.(?) p.(Asp390Tyr) - likely pathogenic g.119148948G>T g.119278238G>T Asp390Tyr - CBL_000003 - PubMed: Martinelli 2010 - - Unknown - - - - - LOVD
?/. 1 - c.1190G>A r.(?) p.(Gly397Glu) - VUS g.119148970G>A - CBL(NM_005188.3):c.1190G>A (p.G397E) - CBL_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1211G>A r.(?) p.(Cys404Tyr) - likely benign g.119148991G>A g.119278281G>A - - CBL_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1227+2T>C r.spl? p.? - likely pathogenic g.119149009T>C g.119278299T>C CBL(NM_005188.3):c.1227+2T>C (p.?) - CBL_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 4 - c.1227+4C>T r.spl? p.? - benign, likely benign g.119149011C>T g.119278301C>T CBL(NM_005188.3):c.1227+4C>T - CBL_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - c.1227+5_1227+8del r.spl? p.? ACMG likely pathogenic g.119149012_119149015del g.119278302_119278305del - - CBL_000020 - PubMed: Trujillano 2017 - - De novo - - - - - Daniel Trujillano
-?/. 1 - c.1227+17C>G r.(=) p.(=) - likely benign g.119149024C>G g.119278314C>G - - CBL_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 3 - c.1227+20dup r.(=) p.(=) - likely benign g.119149027dup g.119278317dup CBL(NM_005188.3):c.1227+20dupC - CBL_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
+/. 1 - c.1228-2A>G r.spl? p.? - pathogenic g.119149218A>G g.119278508A>G - - CBL_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1248T>C r.(?) p.(Cys416=) - likely benign g.119149240T>C g.119278530T>C CBL(NM_005188.3):c.1248T>C (p.C416=) - CBL_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/? 1 ? c.1259G>A r.(?) p.(Arg420Gln) - likely pathogenic g.119149251G>A g.119278541G>A Arg420Gln - CBL_000004 - PubMed: Martinelli 2010 - - Unknown - - - - - LOVD
-?/. 1 - c.1260A>G r.(?) p.(Arg420=) - likely benign g.119149252A>G - CBL(NM_005188.3):c.1260A>G (p.R420=) - CBL_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1324C>A r.(?) p.(Leu442Met) - likely benign g.119149316C>A g.119278606C>A CBL(NM_005188.3):c.1324C>A (p.L442M) - CBL_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.1359A>C r.(?) p.(Pro453=) - benign, likely benign g.119149351A>C g.119278641A>C CBL(NM_005188.3):c.1359A>C (p.P453=) - CBL_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.1360A>G r.(?) p.(Asn454Asp) - VUS g.119149352A>G g.119278642A>G CBL(NM_005188.3):c.1360A>G (p.(Asn454Asp)) - CBL_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1380_1382dup r.(?) p.(Asp460dup) - likely benign g.119149372_119149374dup - CBL(NM_005188.3):c.1380_1382dupTGA (p.D460dup) - CBL_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1468C>G r.(?) p.(Gln490Glu) - likely benign g.119155715C>G g.119285005C>G - - CBL_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1480C>G r.(?) p.(Pro494Ala) ACMG VUS g.119155727C>G g.119285017C>G - - CBL_000080 - PubMed: Isbister 2020 - - Germline - - - - - Johan den Dunnen
-/. 4 - c.1485G>A r.(?) p.(Pro495=) - benign g.119155732G>A g.119285022G>A CBL(NM_005188.3):c.1485G>A (p.P495=, p.(=)) - CBL_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_AMC
-/. 1 - c.1564-13C>T r.(=) p.(=) - benign g.119155886C>T g.119285176C>T - - CBL_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1577C>G r.(?) p.(Ser526Cys) - VUS g.119155912C>G g.119285202C>G CBL(NM_005188.3):c.1577C>G (p.S526C) - CBL_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1598T>G r.(?) p.(Leu533Trp) - VUS g.119155933T>G g.119285223T>G CBL(NM_005188.3):c.1598T>G (p.L533W) - CBL_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1634C>T r.(?) p.(Pro545Leu) - likely benign g.119155969C>T g.119285259C>T - - CBL_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 2 - c.1641T>C r.(?) p.(Pro547=) - benign, likely benign g.119155976T>C g.119285266T>C CBL(NM_005188.3):c.1641T>C (p.P547=) - CBL_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.1647C>A r.(?) p.(Asp549Glu) - likely benign g.119155982C>A g.119285272C>A - - CBL_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 3 - c.1649G>A r.(?) p.(Arg550Gln) - VUS g.119155984G>A g.119285274G>A CBL(NM_005188.3):c.1649G>A (p.R550Q) - CBL_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 - c.1703C>T r.(?) p.(Thr568Ile) - VUS g.119156038C>T - CBL(NM_005188.3):c.1703C>T (p.T568I) - CBL_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., -?/. 4 - c.1858C>T r.(?) p.(Leu620Phe) - benign, likely benign g.119156193C>T g.119285483C>T CBL(NM_005188.3):c.1858C>T (p.L620F) - CBL_000030 19 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs2227988 CLASSIFICATION record, Germline - 19/2794 individuals - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc, Mohammed Faruq
-?/. 1 - c.1910T>A r.(?) p.(Leu637His) - likely benign g.119156245T>A g.119285535T>A CBL(NM_005188.3):c.1910T>A (p.(Leu637His)) - CBL_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1997C>T r.(?) p.(Pro666Leu) - VUS g.119158617C>T g.119287907C>T - - CBL_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2036+9G>T r.(=) p.(=) - likely benign g.119158665G>T g.119287955G>T - - CBL_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 2 - c.2060C>T r.(?) p.(Pro687Leu) - benign, likely benign g.119167651C>T g.119296941C>T CBL(NM_005188.3):c.2060C>T (p.P687L) - CBL_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 3 - c.2190G>C r.(?) p.(Thr730=) - likely benign g.119168130G>C g.119297420G>C CBL(NM_005188.3):c.2190G>C (p.T730=) - CBL_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.2216C>T r.(?) p.(Ser739Phe) - likely benign g.119168156C>T g.119297446C>T - - CBL_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.2222C>T r.(?) p.(Ala741Val) - benign g.119168162C>T g.119297452C>T CBL(NM_005188.3):c.2222C>T (p.A741V) - CBL_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2251+14del r.(=) p.(=) - likely benign g.119168205del g.119297495del CBL(NM_005188.3):c.2251+14delC - CBL_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 - c.2262T>G r.(?) p.(Asn754Lys) - likely benign g.119169078T>G g.119298368T>G CBL(NM_005188.3):c.2262T>G (p.N754K) - CBL_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
-/., -?/. 4 - c.2269G>A r.(?) p.(Ala757Thr) - benign, likely benign g.119169085G>A g.119298375G>A CBL(NM_005188.3):c.2269G>A (p.A757T, p.(Ala757Thr)) - CBL_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 - c.2323G>A r.(?) p.(Asp775Asn) - VUS g.119169139G>A g.119298429G>A CBL(NM_005188.3):c.2323G>A (p.D775N) - CBL_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.2345C>T r.(?) p.(Pro782Leu) - benign g.119169161C>T g.119298451C>T CBL(NM_005188.3):c.2345C>T (p.P782L) - CBL_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., -?/. 2 - c.2360G>A r.(?) p.(Arg787His) - benign, likely benign g.119169176G>A g.119298466G>A CBL(NM_005188.3):c.2360G>A (p.R787H, p.(Arg787His)) - CBL_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
?/. 1 - c.2405G>C r.(?) p.(Trp802Ser) - VUS g.119169221G>C g.119298511G>C - - CBL_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2484G>A r.(?) p.(Pro828=) - likely benign g.119170254G>A g.119299544G>A - - CBL_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2520T>G r.(?) p.(Cys840Trp) - likely benign g.119170290T>G g.119299580T>G CBL(NM_005188.3):c.2520T>G (p.C840W) - CBL_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2546C>A r.(?) p.(Ser849Tyr) - likely benign g.119170316C>A g.119299606C>A CBL(NM_005188.3):c.2546C>A (p.(Ser849Tyr)) - CBL_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2556C>T r.(?) p.(Thr852=) - likely benign g.119170326C>T g.119299616C>T CBL(NM_005188.3):c.2556C>T (p.T852=) - CBL_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.2592C>T r.(?) p.(Leu864=) - benign g.119170362C>T g.119299652C>T CBL(NM_005188.3):c.2592C>T (p.L864=, p.(=)) - CBL_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc, VKGL-NL_AMC
+?/. 1 - c.2629G>A r.(?) p.(Ala877Thr) - likely pathogenic g.119170399G>A g.119299689G>A NM_005188.3:c.2629G>A; p.Ala877Thr - CBL_000084 - PubMed: Nair 2018 - rs1477997244 Unknown ? - - - - LOVD
?/. 1 - c.2632T>A r.(?) p.(Leu878Met) - VUS g.119170402T>A g.119299692T>A CBL(NM_005188.3):c.2632T>A (p.L878M) - CBL_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2710G>A r.(?) p.(Val904Ile) - benign g.119170480G>A g.119299770G>A - - CBL_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*2423C>T r.(=) p.(=) - likely benign g.119172914C>T g.119302204C>T - - CBL_000075 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117804312 Germline - 3/2795 individuals - - - Mohammed Faruq
-/. 2 - c.*6008T>C r.(=) p.(=) - benign g.119176499T>C g.119305789T>C - - CBL_000076 11 homozygous; Clinindb (India), 252 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3829261 Germline - 11/2791 individuals, 252/2791 individuals - - - Mohammed Faruq
?/. 1 - c.*11127G>A r.(=) p.(=) - VUS g.119181618G>A g.119310908G>A MCAM(NM_006500.2):c.1646-5C>T (p.?) - MCAM_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*12602C>T r.(=) p.(=) - likely benign g.119183093C>T g.119312383C>T MCAM(NM_006500.2):c.907G>A (p.(Gly303Arg)) - MCAM_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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