Full data view for gene RBM20

Information The variants shown are described using the NM_001134363.1 transcript reference sequence.

711 entries on 8 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-3C>T r.(?) p.(=) Unknown - likely benign g.112404210C>T - RBM20(NM_001134363.1):c.-3C>T - RBM20_000324 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.32C>T r.(?) p.(Ala11Val) Unknown - likely benign g.112404244C>T g.110644486C>T - - RBM20_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.37C>A r.(?) p.(Pro13Thr) Unknown - VUS g.112404249C>A - RBM20(NM_001134363.3):c.37C>A (p.P13T) - RBM20_000372 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.82G>A r.(?) p.(Gly28Ser) Unknown - VUS g.112404294G>A g.110644536G>A - - RBM20_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.83G>T r.(?) p.(Gly28Val) Unknown - VUS g.112404295G>T - RBM20(NM_001134363.1):c.83G>T (p.G28V) - RBM20_000351 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.90G>A r.(?) p.(Arg30=) Unknown - benign g.112404302G>A g.110644544G>A RBM20(NM_001134363.1):c.90G>A (p.R30=) - RBM20_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.90G>A r.(?) p.(Arg30=) Unknown - benign g.112404302G>A g.110644544G>A RBM20(NM_001134363.1):c.90G>A (p.R30=) - RBM20_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.90G>A r.(?) p.(Arg30=) Unknown - benign g.112404302G>A g.110644544G>A RBM20(NM_001134363.1):c.90G>A (p.R30=) - RBM20_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.90G>A r.(?) p.(Arg30=) Unknown - benign g.112404302G>A g.110644544G>A RBM20(NM_001134363.1):c.90G>A (p.R30=) - RBM20_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.104C>A r.(?) p.(Pro35His) Unknown - VUS g.112404316C>A g.110644558C>A - - RBM20_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.104C>T r.(?) p.(Pro35Leu) Unknown - VUS g.112404316C>T - - - RBM20_000352 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.107C>G r.(?) p.(Ser36Cys) Unknown - VUS g.112404319C>G g.110644561C>G - - RBM20_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.109G>C r.(?) p.(Gly37Arg) Unknown - VUS g.112404321G>C g.110644563G>C RBM20(NM_001134363.3):c.109G>C (p.G37R) - RBM20_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.113C>T r.(?) p.(Pro38Leu) Unknown - VUS g.112404325C>T g.110644567C>T RBM20(NM_001134363.1):c.113C>T (p.P38L) - RBM20_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.114G>T r.(?) p.(Pro38=) Unknown - likely benign g.112404326G>T g.110644568G>T RBM20(NM_001134363.1):c.114G>T (p.P38=) - RBM20_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.114G>T r.(?) p.(Pro38=) Unknown - likely benign g.112404326G>T - RBM20(NM_001134363.1):c.114G>T (p.P38=) - RBM20_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.127C>A r.(?) p.(Gln43Lys) Unknown - VUS g.112404339C>A - RBM20(NM_001134363.1):c.127C>A (p.Q43K) - RBM20_000373 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.128_130dup r.(?) p.(Gln43dup) Unknown - benign g.112404340_112404342dup g.110644582_110644584dup RBM20(NM_001134363.1):c.128_130dupAGC (p.Q43dup) - RBM20_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.128_130dup r.(?) p.(Gln43dup) Unknown - benign g.112404340_112404342dup g.110644582_110644584dup RBM20(NM_001134363.1):c.128_130dupAGC (p.Q43dup) - RBM20_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.128_130dup r.(?) p.(Gln43dup) Unknown - likely benign g.112404340_112404342dup - RBM20(NM_001134363.1):c.128_130dupAGC (p.Q43dup) - RBM20_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.131C>A r.(?) p.(Pro44Gln) Unknown - benign g.112404343C>A g.110644585C>A RBM20(NM_001134363.1):c.131C>A (p.P44Q) - RBM20_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.131C>A r.(?) p.(Pro44Gln) Unknown - likely benign g.112404343C>A - RBM20(NM_001134363.1):c.131C>A (p.P44Q) - RBM20_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.132_149dup r.(?) p.(Pro50_Gln55dup) Unknown - VUS g.112404344_112404361dup - RBM20(NM_001134363.1):c.132_149dupGCCGCCGCCGCCCCAGCC (p.(Pro50_Pro51insProProProProGlnPro)) - RBM20_000374 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.135G>C r.(?) p.(Pro45=) Unknown - likely benign g.112404347G>C g.110644589G>C - - RBM20_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.138G>C r.(?) p.(Pro46=) Unknown - likely benign g.112404350G>C g.110644592G>C RBM20(NM_001134363.1):c.138G>C (p.P46=) - RBM20_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.138G>C r.(?) p.(Pro46=) Unknown - likely benign g.112404350G>C g.110644592G>C RBM20(NM_001134363.1):c.138G>C (p.P46=) - RBM20_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.141G>C r.(?) p.(Pro47=) Unknown - likely benign g.112404353G>C g.110644595G>C RBM20(NM_001134363.1):c.141G>C (p.P47=) - RBM20_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.141_142del r.(?) p.(Gln49AlafsTer29) Unknown - VUS g.112404353_112404354del g.110644595_110644596del - - RBM20_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.141_143dup r.(?) p.(Pro48dup) Unknown - likely benign g.112404353_112404355dup - RBM20(NM_001134363.3):c.141_143dup (p.(Pro48dup)) - RBM20_000386 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.141_161del r.(?) p.(Pro48_Pro54del) Unknown - VUS g.112404353_112404373del - RBM20(NM_001134363.1):c.141_161delGCCCCAGCCACCGCCCCCGCC (p.P48_P54del) - RBM20_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.141_161del r.(?) p.(Pro48_Pro54del) Unknown - VUS g.112404353_112404373del - RBM20(NM_001134363.1):c.141_161delGCCCCAGCCACCGCCCCCGCC (p.P48_P54del) - RBM20_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.145C>T r.(?) p.(Gln49Ter) Unknown - likely pathogenic g.112404357C>T g.110644599C>T RBM20(NM_001134363.1):c.145C>T (p.Q49*), RBM20(NM_001134363.3):c.145C>T (p.Q49*) - RBM20_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.145C>T r.(?) p.(Gln49Ter) Unknown - likely pathogenic g.112404357C>T - RBM20(NM_001134363.1):c.145C>T (p.Q49*), RBM20(NM_001134363.3):c.145C>T (p.Q49*) - RBM20_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.145C>T r.(?) p.(Gln49Ter) Unknown - VUS g.112404357C>T - RBM20(NM_001134363.1):c.145C>T (p.Q49*), RBM20(NM_001134363.3):c.145C>T (p.Q49*) - RBM20_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.146A>C r.(?) p.(Gln49Pro) Unknown - likely benign g.112404358A>C g.110644600A>C RBM20(NM_001134363.1):c.146A>C (p.Q49P) - RBM20_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.146A>C r.(?) p.(Gln49Pro) Unknown - likely benign g.112404358A>C g.110644600A>C RBM20(NM_001134363.1):c.146A>C (p.Q49P) - RBM20_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.146_147del r.(?) p.(Gln49ProfsTer29) Unknown - benign g.112404358_112404359del g.110644600_110644601del RBM20(NM_001134363.1):c.146_147delAG (p.Q49Pfs*29), RBM20(NM_001134363.3):c.146_147delAG (p.Q49Pfs*29) - RBM20_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.146_147del r.(?) p.(Gln49ProfsTer29) Unknown - likely benign g.112404358_112404359del - RBM20(NM_001134363.1):c.146_147delAG (p.Q49Pfs*29), RBM20(NM_001134363.3):c.146_147delAG (p.Q49Pfs*29) - RBM20_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.147G>A r.(?) p.(Gln49=) Unknown - likely benign g.112404359G>A g.110644601G>A - - RBM20_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.147G>C r.(?) p.(Gln49His) Unknown - likely benign g.112404359G>C g.110644601G>C RBM20(NM_001134363.1):c.147G>C (p.Q49H) - RBM20_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150A>C r.(?) p.(Pro50=) Unknown - likely benign g.112404362A>C g.110644604A>C RBM20(NM_001134363.1):c.150A>C (p.P50=), RBM20(NM_001134363.3):c.150A>C (p.P50=) - RBM20_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150A>C r.(?) p.(Pro50=) Unknown - likely benign g.112404362A>C g.110644604A>C RBM20(NM_001134363.1):c.150A>C (p.P50=), RBM20(NM_001134363.3):c.150A>C (p.P50=) - RBM20_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150A>C r.(?) p.(Pro50=) Unknown - likely benign g.112404362A>C g.110644604A>C RBM20(NM_001134363.1):c.150A>C (p.P50=), RBM20(NM_001134363.3):c.150A>C (p.P50=) - RBM20_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.150A>T r.(?) p.(Pro50=) Unknown - benign g.112404362A>T g.110644604A>T RBM20(NM_001134363.1):c.150A>T (p.P50=) - RBM20_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150A>T r.(?) p.(Pro50=) Unknown - likely benign g.112404362A>T g.110644604A>T RBM20(NM_001134363.1):c.150A>T (p.P50=) - RBM20_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150A>T r.(?) p.(Pro50=) Unknown - likely benign g.112404362A>T - RBM20(NM_001134363.1):c.150A>T (p.P50=) - RBM20_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150A>T r.(?) p.(Pro50=) Unknown - likely benign g.112404362A>T - RBM20(NM_001134363.1):c.150A>T (p.P50=) - RBM20_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.153G>C r.(?) p.(Pro51=) Unknown - likely benign g.112404365G>C g.110644607G>C RBM20(NM_001134363.1):c.153G>C (p.P51=) - RBM20_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159G>C r.(?) p.(Pro53=) Unknown - likely benign g.112404371G>C g.110644613G>C RBM20(NM_001134363.1):c.159G>C (p.P53=) - RBM20_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.160C>T r.(?) p.(Pro54Ser) Unknown - VUS g.112404372C>T g.110644614C>T - - RBM20_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.161C>G r.(?) p.(Pro54Arg) Unknown - benign g.112404373C>G g.110644615C>G - - RBM20_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.164A>C r.(?) p.(Gln55Pro) Unknown - likely benign g.112404376A>C g.110644618A>C RBM20(NM_001134363.1):c.164A>C (p.Q55P) - RBM20_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.164A>C r.(?) p.(Gln55Pro) Unknown - likely benign g.112404376A>C g.110644618A>C RBM20(NM_001134363.1):c.164A>C (p.Q55P) - RBM20_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.164_166del r.(?) p.(Gln55_Ala56delinsPro) Unknown - benign g.112404376_112404378del g.110644618_110644620del RBM20(NM_001134363.1):c.164_166delAAG (p.Q55_A56delinsP) - RBM20_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.166G>C r.(?) p.(Ala56Pro) Unknown - likely benign g.112404378G>C g.110644620G>C RBM20(NM_001134363.1):c.166G>C (p.A56P) - RBM20_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.169_174del r.(?) p.(Gly57_Leu58del) Unknown - benign g.112404381_112404386del g.110644623_110644628del RBM20(NM_001134363.1):c.169_174delGGCCTA (p.G57_L58del) - RBM20_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.186C>A r.(?) p.(Ile62=) Unknown - benign g.112404398C>A g.110644640C>A RBM20(NM_001134363.1):c.186C>A (p.I62=) - RBM20_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.186C>A r.(?) p.(Ile62=) Unknown - likely benign g.112404398C>A g.110644640C>A RBM20(NM_001134363.1):c.186C>A (p.I62=) - RBM20_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.192-3C>T r.spl? p.? Unknown - VUS g.112540556C>T g.110780798C>T - - RBM20_000357 - PubMed: Miszalski-Jamka 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - LVNC Pat88 PubMed: Miszalski-Jamka 2017 case solved - - - - - - - - 1 Johan den Dunnen
?/. - c.203T>C r.(?) p.(Leu68Pro) Unknown - VUS g.112540570T>C - RBM20(NM_001134363.1):c.203T>C (p.L68P) - RBM20_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.215A>T r.(?) p.(Asn72Ile) Unknown ACMG VUS g.112540582A>T - - - RBM20_000286 ACMG: PM2: class 3 - - - Germline ? - - - - DNA SEQ-NG-I - - SIDS 155427 - submission for publication Schoen et al.; 2021: sudden unexplained death ? ? Germany - 23y - - - 1 Andreas Laner
?/. - c.224C>T r.(?) p.(Ser75Leu) Unknown - VUS g.112540591C>T g.110780833C>T RBM20(NM_001134363.1):c.224C>T (p.S75L) - RBM20_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.224C>T r.(?) p.(Ser75Leu) Unknown - VUS g.112540591C>T - RBM20(NM_001134363.1):c.224C>T (p.S75L) - RBM20_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.237G>A r.(?) p.(Pro79=) Unknown - likely benign g.112540604G>A g.110780846G>A RBM20(NM_001134363.1):c.237G>A (p.P79=) - RBM20_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.237G>A r.(?) p.(Pro79=) Unknown - likely benign g.112540604G>A - RBM20(NM_001134363.1):c.237G>A (p.P79=) - RBM20_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.237G>A r.(?) p.(Pro79=) Unknown - benign g.112540604G>A - RBM20(NM_001134363.1):c.237G>A (p.P79=) - RBM20_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.237G>A r.(?) p.(Pro79=) Unknown - likely benign g.112540604G>A - RBM20(NM_001134363.1):c.237G>A (p.P79=) - RBM20_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.247C>A r.(?) p.(Leu83Ile) Unknown - VUS g.112540614C>A g.110780856C>A RBM20(NM_001134363.1):c.247C>A (p.L83I), RBM20(NM_001134363.3):c.247C>A (p.L83I) - RBM20_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.247C>A r.(?) p.(Leu83Ile) Unknown - VUS g.112540614C>A - RBM20(NM_001134363.1):c.247C>A (p.L83I), RBM20(NM_001134363.3):c.247C>A (p.L83I) - RBM20_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.255A>C r.(?) p.(Ser85=) Unknown - benign g.112540622A>C g.110780864A>C - - RBM20_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.259G>T r.(?) p.(Ala87Ser) Unknown - VUS g.112540626G>T g.110780868G>T - - RBM20_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.280C>T r.(?) p.(Leu94=) Unknown - likely benign g.112540647C>T g.110780889C>T RBM20(NM_001134363.1):c.280C>T (p.L94=) - RBM20_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.280C>T r.(?) p.(Leu94=) Unknown - likely benign g.112540647C>T g.110780889C>T RBM20(NM_001134363.1):c.280C>T (p.L94=) - RBM20_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.280C>T r.(?) p.(Leu94=) Unknown - likely benign g.112540647C>T - RBM20(NM_001134363.1):c.280C>T (p.L94=) - RBM20_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.288C>G r.(?) p.(Ala96=) Unknown - benign g.112540655C>G g.110780897C>G RBM20(NM_001134363.1):c.288C>G (p.A96=) - RBM20_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.298C>T r.(?) p.(Leu100Phe) Unknown - VUS g.112540665C>T - RBM20(NM_001134363.3):c.298C>T (p.L100F) - RBM20_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.299T>G r.(?) p.(Leu100Arg) Unknown - VUS g.112540666T>G - - - RBM20_000276 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.301C>T r.(?) p.(His101Tyr) Unknown - VUS g.112540668C>T - RBM20(NM_001134363.1):c.301C>T (p.H101Y) - RBM20_000325 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.305G>A r.(?) p.(Arg102Gln) Unknown - VUS g.112540672G>A - RBM20(NM_001134363.1):c.305G>A (p.R102Q) - RBM20_000300 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.344C>T r.(?) p.(Ala115Val) Unknown - VUS g.112540711C>T g.110780953C>T RBM20(NM_001134363.1):c.344C>T (p.A115V) - RBM20_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.348C>T r.(?) p.(Ala116=) Unknown - benign g.112540715C>T g.110780957C>T RBM20(NM_001134363.1):c.348C>T (p.A116=) - RBM20_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.348del r.(?) p.(Ala117Profs*4) Unknown - likely pathogenic g.112540715del - RBM20(NM_001134363.3):c.348delC (p.A117Pfs*4) - RBM20_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.349G>A r.(?) p.(Ala117Thr) Unknown - VUS g.112540716G>A g.110780958G>A RBM20(NM_001134363.1):c.349G>A (p.A117T) - RBM20_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.352A>G r.(?) p.(Thr118Ala) Unknown - VUS g.112540719A>G g.110780961A>G RBM20(NM_001134363.1):c.352A>G (p.T118A), RBM20(NM_001134363.3):c.352A>G (p.T118A) - RBM20_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.352A>G r.(?) p.(Thr118Ala) Unknown - VUS g.112540719A>G - RBM20(NM_001134363.1):c.352A>G (p.T118A), RBM20(NM_001134363.3):c.352A>G (p.T118A) - RBM20_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.352A>G r.(?) p.(Thr118Ala) Unknown - VUS g.112540719A>G - RBM20(NM_001134363.1):c.352A>G (p.T118A), RBM20(NM_001134363.3):c.352A>G (p.T118A) - RBM20_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.352A>G r.(?) p.(Thr118Ala) Unknown - VUS g.112540719A>G - RBM20(NM_001134363.1):c.352A>G (p.T118A), RBM20(NM_001134363.3):c.352A>G (p.T118A) - RBM20_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.359del r.(?) p.(Leu120Argfs*18) Unknown - VUS g.112540726del - - - RBM20_000326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.363C>T r.(?) p.(Asn121=) Unknown - likely benign g.112540730C>T g.110780972C>T RBM20(NM_001134363.1):c.363C>T (p.N121=) - RBM20_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.371T>C r.(?) p.(Leu124Pro) Unknown - VUS g.112540738T>C - RBM20(NM_001134363.1):c.371T>C (p.L124P) - RBM20_000344 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.399C>T r.(?) p.(Leu133=) Unknown - likely benign g.112540766C>T g.110781008C>T RBM20(NM_001134363.1):c.399C>T (p.L133=) - RBM20_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.414del r.(?) p.(Arg138SerfsTer5) Unknown - likely pathogenic g.112540781del g.110781023del RBM20(NM_001134363.1):c.414delG (p.R138Sfs*5) - RBM20_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.415C>A r.(?) p.(His139Asn) Unknown - VUS g.112540782C>A g.110781024C>A RBM20(NM_001134363.1):c.415C>A (p.H139N) - RBM20_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.419del r.(?) p.(Pro140ArgfsTer3) Unknown - VUS g.112540786del g.110781028del - - RBM20_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.420G>A r.(?) p.(Pro140=) Unknown - benign g.112540787G>A - RBM20(NM_001134363.1):c.420G>A (p.P140=) - RBM20_000302 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.441C>T r.(?) p.(His147=) Unknown - likely benign g.112540808C>T g.110781050C>T RBM20(NM_001134363.1):c.441C>T (p.H147=) - RBM20_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.442G>A r.(?) p.(Gly148Ser) Unknown - likely benign g.112540809G>A g.110781051G>A - - RBM20_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.448G>A r.(?) p.(Ala150Thr) Unknown - VUS g.112540815G>A g.110781057G>A RBM20(NM_001134363.1):c.448G>A (p.A150T) - RBM20_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.448G>A r.(?) p.(Ala150Thr) Unknown - benign g.112540815G>A g.110781057G>A RBM20(NM_001134363.1):c.448G>A (p.A150T) - RBM20_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.449C>T r.(?) p.(Ala150Val) Unknown - VUS g.112540816C>T g.110781058C>T RBM20(NM_001134363.1):c.449C>T (p.A150V) - RBM20_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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