Full data view for gene SPTBN2

Information The variants shown are described using the NM_006946.2 transcript reference sequence.

243 entries on 3 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.-119C>T r.(?) p.(=) Unknown - likely benign g.66488917G>A - SPTBN2(NM_006946.4):c.-113-6C>T - SPTBN2_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-22-10C>A r.(=) p.(=) Unknown - VUS g.66488743G>T - SPTBN2(NM_006946.3):c.-22-10C>A - SPTBN2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2T>C r.(?) p.? Unknown - VUS g.66488710A>G - SPTBN2(NM_006946.4):c.2T>C (p.(Met1?)) - SPTBN2_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.92C>T r.(?) p.(Ser31Leu) Unknown ACMG VUS g.66488620G>A g.66721149G>A - - SPTBN2_000116 - - - rs147766428 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
-?/. - c.92C>T r.(?) p.(Ser31Leu) Unknown - likely benign g.66488620G>A - SPTBN2(NM_006946.3):c.92C>T (p.S31L) - SPTBN2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.122G>A r.(?) p.(Arg41His) Unknown - VUS g.66488590C>T - SPTBN2(NM_006946.4):c.122G>A (p.(Arg41His)) - SPTBN2_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.157+5G>A r.spl? p.? Unknown - likely benign g.66488550C>T g.66721079C>T SPTBN2(NM_006946.3):c.157+5G>A, SPTBN2(NM_006946.4):c.157+5G>A - SPTBN2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.157+5G>A r.spl? p.? Unknown - likely benign g.66488550C>T g.66721079C>T SPTBN2(NM_006946.3):c.157+5G>A, SPTBN2(NM_006946.4):c.157+5G>A - SPTBN2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.157+16G>A r.(=) p.(=) Unknown - likely benign g.66488539C>T g.66721068C>T SPTBN2(NM_006946.3):c.157+16G>A - SPTBN2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.185C>T r.(?) p.(Thr62Ile) Unknown - likely pathogenic g.66483425G>A g.66715954G>A - - SPTBN2_000072 - - - - Unknown ? - - - - DNA SEQ-NG blood - - - - - - - - - - - - - - -
?/. - c.185C>T r.(?) p.(Thr62Ile) Unknown - VUS g.66483425G>A g.66715954G>A - - SPTBN2_000072 - PubMed: Poli 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat62 PubMed: Poli 2024 - F - Chile - - - - - 1 Johan den Dunnen
+?/. - c.193A>C r.(?) p.(Lys65Gln) Unknown - likely pathogenic g.66483417T>G g.66715946T>G - - SPTBN2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.224C>T r.(?) p.(Thr75Met) Unknown - VUS g.66483386G>A - SPTBN2(NM_006946.2):c.224C>T (p.(Thr75Met)) - SPTBN2_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.229C>T r.(?) p.(Arg77Trp) Unknown - VUS g.66483381G>A g.66715910G>A SPTBN2(NM_006946.3):c.229C>T (p.R77W) - SPTBN2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.229C>T r.(?) p.(Arg77Trp) Unknown - VUS g.66483381G>A g.66715910G>A SPTBN2(NM_006946.3):c.229C>T (p.R77W) - SPTBN2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.229C>T r.(?) p.(Arg77Trp) Parent #1 - VUS g.66483381G>A g.66715910G>A - - SPTBN2_000054 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200956071 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.233T>C r.(?) p.(Val78Ala) Unknown - VUS g.66483377A>G g.66715906A>G - - SPTBN2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.266G>T r.(?) p.(Arg89Leu) Unknown - VUS g.66483344C>A - SPTBN2(NM_006946.2):c.266G>T (p.(Arg89Leu)) - SPTBN2_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.285C>T r.(?) p.(Leu95=) Unknown - benign g.66483325G>A g.66715854G>A SPTBN2(NM_006946.3):c.285C>T (p.L95=) - SPTBN2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.363G>A r.(?) p.(Lys121=) Unknown - likely benign g.66482813C>T g.66715342C>T SPTBN2(NM_006946.3):c.363G>A (p.K121=) - SPTBN2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.403A>C r.(?) p.(Asn135His) Unknown - VUS g.66482773T>G - SPTBN2(NM_006946.4):c.403A>C (p.N135H) - SPTBN2_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.406A>G r.(?) p.(Met136Val) Unknown - VUS g.66482770T>C g.66715299T>C SPTBN2(NM_006946.3):c.406A>G (p.M136V), SPTBN2(NM_006946.4):c.406A>G (p.(Met136Val), p.M136V) - SPTBN2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.406A>G r.(?) p.(Met136Val) Unknown - VUS g.66482770T>C - SPTBN2(NM_006946.3):c.406A>G (p.M136V), SPTBN2(NM_006946.4):c.406A>G (p.(Met136Val), p.M136V) - SPTBN2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.406A>G r.(?) p.(Met136Val) Unknown - VUS g.66482770T>C - SPTBN2(NM_006946.3):c.406A>G (p.M136V), SPTBN2(NM_006946.4):c.406A>G (p.(Met136Val), p.M136V) - SPTBN2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.406A>G r.(?) p.(Met136Val) Unknown - VUS g.66482770T>C - SPTBN2(NM_006946.3):c.406A>G (p.M136V), SPTBN2(NM_006946.4):c.406A>G (p.(Met136Val), p.M136V) - SPTBN2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.448C>A r.(?) p.(Leu150Ile) Unknown ACMG likely pathogenic (dominant) g.66482728G>T - - - SPTBN2_000135 ACMG: PS2_MOD, PM1, PM2_SUP, PP3; confirmed de novo in index - - - De novo - - - - - DNA SEQ-NG-I - - SCA5 142871 - - M ? Germany - - - - - 1 Andreas Laner
+?/. - c.479T>G r.(?) p.(Phe160Cys) Unknown - likely pathogenic g.66482697A>C g.66715226A>C - - SPTBN2_000071 - - - - De novo - - - - - DNA SEQ-NG blood - - - - - - - - - - - - - - -
?/. - c.486C>G r.(?) p.(Ile162Met) Unknown - VUS g.66481876G>C g.66714405G>C - - SPTBN2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.584A>G r.(?) p.(Asn195Ser) Unknown - VUS g.66481634T>C - SPTBN2(NM_006946.2):c.584A>G (p.(Asn195Ser)), SPTBN2(NM_006946.4):c.584A>G (p.N195S) - SPTBN2_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.584A>G r.(?) p.(Asn195Ser) Unknown - VUS g.66481634T>C - SPTBN2(NM_006946.2):c.584A>G (p.(Asn195Ser)), SPTBN2(NM_006946.4):c.584A>G (p.N195S) - SPTBN2_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.585C>T r.(?) p.(Asn195=) Unknown - benign g.66481633G>A g.66714162G>A SPTBN2(NM_006946.3):c.585C>T (p.N195=) - SPTBN2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.590A>G r.(?) p.(Asn197Ser) Unknown - VUS g.66481628T>C g.66714157T>C SPTBN2(NM_006946.3):c.590A>G (p.N197S) - SPTBN2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.611G>C r.(?) p.(Ser204Thr) Unknown - likely benign g.66481607C>G - - - SPTBN2_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.656G>A r.(?) p.(Arg219Gln) Unknown - VUS g.66481562C>T g.66714091C>T - - SPTBN2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.657-3C>T r.spl? p.? Unknown - likely benign g.66481220G>A g.66713749G>A SPTBN2(NM_006946.2):c.657-3C>T (p.?) - SPTBN2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.812C>A r.(?) p.(Thr271Asn) Unknown - pathogenic g.66478461G>T g.66710990G>T - - SPTBN2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.814T>C r.(?) p.(Tyr272His) Paternal (confirmed) - likely pathogenic g.66478459A>G g.66710988A>G - - SPTBN2_000068 - - - - Germline - - - - - DNA SEQ-NG blood - - - - - - - - - - - - - - -
?/. - c.868G>A r.(?) p.(Gly290Ser) Unknown - VUS g.66478405C>T - SPTBN2(NM_006946.3):c.868G>A (p.G290S) - SPTBN2_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.885+5T>C r.spl? p.? Unknown - benign g.66478383A>G g.66710912A>G SPTBN2(NM_006946.3):c.885+5T>C - SPTBN2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.976G>A r.(?) p.(Val326Met) Unknown - VUS g.66478150C>T - SPTBN2(NM_006946.4):c.976G>A (p.V326M) - SPTBN2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1002C>G r.(?) p.(Ala334=) Unknown - likely benign g.66478124G>C - SPTBN2(NM_006946.3):c.1002C>G (p.A334=) - SPTBN2_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1073+5G>A r.spl? p.? Unknown - VUS g.66478048C>T - SPTBN2(NM_006946.3):c.1073+5G>A - SPTBN2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1130G>T r.(?) p.(Arg377Leu) Unknown - VUS g.66476434C>A g.66708963C>A SPTBN2(NM_006946.4):c.1130G>T (p.R377L) - SPTBN2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1153A>G r.(?) p.(Thr385Ala) Unknown - likely benign g.66476411T>C - SPTBN2(NM_006946.2):c.1153A>G (p.(Thr385Ala)) - SPTBN2_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1161C>T r.(?) p.(Arg387=) Unknown - likely benign g.66476403G>A g.66708932G>A SPTBN2(NM_006946.3):c.1161C>T (p.R387=) - SPTBN2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1187A>C r.(?) p.(Asn396Thr) Unknown - VUS g.66476377T>G - SPTBN2(NM_006946.3):c.1187A>C (p.N396T) - SPTBN2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1201C>T r.(?) p.(Arg401Trp) Unknown - VUS g.66475761G>A g.66708290G>A SPTBN2(NM_006946.3):c.1201C>T (p.R401W) - SPTBN2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1221C>T r.(?) p.(His407=) Unknown - likely benign g.66475741G>A g.66708270G>A SPTBN2(NM_006946.3):c.1221C>T (p.H407=) - SPTBN2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1221C>T r.(?) p.(His407=) Unknown - benign g.66475741G>A - SPTBN2(NM_006946.3):c.1221C>T (p.H407=) - SPTBN2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1246G>A r.(?) p.(Glu416Lys) Unknown - VUS g.66475716C>T g.66708245C>T SPTBN2(NM_006946.3):c.1246G>A (p.E416K), SPTBN2(NM_006946.4):c.1246G>A (p.(Glu416Lys), p.E416K) - SPTBN2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1246G>A r.(?) p.(Glu416Lys) Unknown - VUS g.66475716C>T g.66708245C>T SPTBN2(NM_006946.3):c.1246G>A (p.E416K), SPTBN2(NM_006946.4):c.1246G>A (p.(Glu416Lys), p.E416K) - SPTBN2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1246G>A r.(?) p.(Glu416Lys) Unknown - VUS g.66475716C>T - SPTBN2(NM_006946.3):c.1246G>A (p.E416K), SPTBN2(NM_006946.4):c.1246G>A (p.(Glu416Lys), p.E416K) - SPTBN2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1246G>A r.(?) p.(Glu416Lys) Unknown - VUS g.66475716C>T - SPTBN2(NM_006946.3):c.1246G>A (p.E416K), SPTBN2(NM_006946.4):c.1246G>A (p.(Glu416Lys), p.E416K) - SPTBN2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1255C>T r.(?) p.(Arg419Cys) Unknown - VUS g.66475707G>A g.66708236G>A SPTBN2(NM_006946.3):c.1255C>T (p.R419C) - SPTBN2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1286G>A r.(?) p.(Arg429His) Unknown - VUS g.66475676C>T g.66708205C>T - - SPTBN2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1294C>T r.(?) p.(Arg432Cys) Unknown - VUS g.66475668G>A - SPTBN2(NM_006946.4):c.1294C>T (p.(Arg432Cys)) - SPTBN2_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1309C>T r.(?) p.(Arg437Trp) Unknown - likely pathogenic g.66475653G>A g.66708182G>A - - SPTBN2_000070 - - - - De novo - - - - - DNA SEQ-NG blood - - - - - - - - - - - - - - -
+/. - c.1309C>T r.(?) p.(Arg437Trp) Unknown - pathogenic g.66475653G>A g.66708182G>A - - SPTBN2_000070 - PubMed: Salinas 2020 RCV001193661.1 - Unknown - - - - - DNA SEQ-NG - gene panel ? Pat12 PubMed: Salinas 2020 patient F - - - - - - - 1 Johan den Dunnen
+/. - c.1309C>T r.(?) p.(Arg437Trp) Unknown - pathogenic g.66475653G>A g.66708182G>A - - SPTBN2_000070 - - - - De novo - - - - - DNA SEQ-NG - - SCA - - - - - ? (unknown) - - - - - 1 Min Peng
+?/. - c.1310G>A r.(?) p.(Arg437Gln) Unknown - likely pathogenic g.66475652C>T g.66708181C>T - - SPTBN2_000069 - - - - De novo - - - - - DNA SEQ-NG blood - - - - - - - - - - - - - - -
+/. - c.1310G>A r.(?) p.(Arg437Gln) Unknown ACMG pathogenic g.66475652C>T g.66708181C>T - - SPTBN2_000147 - PubMed: Thomas 2022 - - De novo - - - - - DNA SEQ-NG - clincal WES ? Pat39 PubMed: Thomas 2022 no family history - no France - - - - - 1 Johan den Dunnen
-?/. - c.1323C>T r.(?) p.(Leu441=) Unknown - likely benign g.66475639G>A g.66708168G>A SPTBN2(NM_006946.3):c.1323C>T (p.L441=), SPTBN2(NM_006946.4):c.1323C>T (p.L441=) - SPTBN2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1323C>T r.(?) p.(Leu441=) Unknown - likely benign g.66475639G>A g.66708168G>A SPTBN2(NM_006946.3):c.1323C>T (p.L441=), SPTBN2(NM_006946.4):c.1323C>T (p.L441=) - SPTBN2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1350+17C>T r.(=) p.(=) Unknown - likely benign g.66475595G>A g.66708124G>A SPTBN2(NM_006946.3):c.1350+17C>T - SPTBN2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1351-7G>A r.(=) p.(=) Unknown - likely benign g.66475296C>T - SPTBN2(NM_006946.3):c.1351-7G>A - SPTBN2_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1351-7G>A r.(=) p.(=) Unknown - likely benign g.66475296C>T - SPTBN2(NM_006946.3):c.1351-7G>A - SPTBN2_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1351-7G>T r.(=) p.(=) Unknown - benign g.66475296C>A g.66707825C>A SPTBN2(NM_006946.3):c.1351-7G>T - SPTBN2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1416G>A r.(?) p.(Thr472=) Unknown - benign g.66475224C>T g.66707753C>T SPTBN2(NM_006946.3):c.1416G>A (p.T472=) - SPTBN2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1438C>T r.(?) p.(Arg480Trp) Unknown - pathogenic g.66475202G>A g.66707731G>A - - SPTBN2_000004 - - - rs397514749 De novo yes - - - - DNA SEQ-NG-I - - SCA5 - - - F no Italy - - - - - 1 Enza Maria Valente
+/. 12 c.1438C>T r.(?) p.(Arg480Trp) Unknown - pathogenic g.66475202G>A g.66707731G>A g.26631C>T - SPTBN2_000004 - - 64368 rs397514749 De novo yes - - - - DNA SEQ-NG-I - - SCA5 - - - F no Italy - - - - - 1 Enza Maria Valente
?/. - c.1438C>T r.(?) p.(Arg480Trp) Unknown - VUS g.66475202G>A g.66707731G>A SPTBN2(NM_006946.3):c.1438C>T (p.R480W) - SPTBN2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1438C>T r.(?) p.(Arg480Trp) Unknown - likely pathogenic g.66475202G>A - SPTBN2(NM_006946.3):c.1438C>T (p.R480W) - SPTBN2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1438C>T r.(?) p.(Arg480Trp) Unknown - pathogenic g.66475202G>A g.66707731G>A - - SPTBN2_000004 - PubMed: Salinas 2020 SUB7803801 - Unknown - - - - - DNA SEQ-NG - WES ? Pat108 PubMed: Salinas 2020 patient M - - - - - - - 1 Johan den Dunnen
+?/. - c.1438C>T r.(?) p.(Arg480Trp) Unknown - likely pathogenic (dominant) g.66475202G>A g.66707731G>A - - SPTBN2_000004 - PubMed: Schnekenberg 2015 - - De novo - - - - - DNA SEQ-NG - WES ataxia Pat4 PubMed: Schnekenberg 2015 2-generation family, 1 affected, unaffected non-carrier parents F no Italy - - - - - 1 Johan den Dunnen
-?/. - c.1456G>A r.(?) p.(Ala486Thr) Unknown - likely benign g.66475184C>T g.66707713C>T SPTBN2(NM_006946.3):c.1456G>A (p.A486T), SPTBN2(NM_006946.4):c.1456G>A (p.A486T) - SPTBN2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1456G>A r.(?) p.(Ala486Thr) Unknown - VUS g.66475184C>T - SPTBN2(NM_006946.3):c.1456G>A (p.A486T), SPTBN2(NM_006946.4):c.1456G>A (p.A486T) - SPTBN2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1491C>T r.(?) p.(His497=) Unknown - likely benign g.66475149G>A g.66707678G>A SPTBN2(NM_006946.3):c.1491C>T (p.H497=) - SPTBN2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1501C>T r.(?) p.(Arg501Cys) Unknown - VUS g.66475139G>A - - - SPTBN2_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1504A>G r.(?) p.(Ile502Val) Unknown - likely benign g.66475136T>C g.66707665T>C SPTBN2(NM_006946.3):c.1504A>G (p.I502V), SPTBN2(NM_006946.4):c.1504A>G (p.(Ile502Val)) - SPTBN2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1504A>G r.(?) p.(Ile502Val) Unknown - likely benign g.66475136T>C - SPTBN2(NM_006946.3):c.1504A>G (p.I502V), SPTBN2(NM_006946.4):c.1504A>G (p.(Ile502Val)) - SPTBN2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1532G>A r.(?) p.(Arg511Gln) Unknown - VUS g.66475108C>T g.66707637C>T SPTBN2(NM_006946.2):c.1532G>A (p.(Arg511Gln)) - SPTBN2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1549C>T r.(?) p.(Arg517Trp) Unknown - VUS g.66475091G>A g.66707620G>A SPTBN2(NM_006946.4):c.1549C>T (p.R517W) - SPTBN2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1550G>A r.(?) p.(Arg517Gln) Unknown - VUS g.66475090C>T - SPTBN2(NM_006946.2):c.1550G>A (p.(Arg517Gln)) - SPTBN2_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1569G>A r.(?) p.(Arg523=) Unknown - likely benign g.66475071C>T g.66707600C>T SPTBN2(NM_006946.3):c.1569G>A (p.R523=) - SPTBN2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1654-13G>A r.(=) p.(=) Unknown - likely benign g.66473321C>T g.66705850C>T SPTBN2(NM_006946.3):c.1654-13G>A - SPTBN2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1654-13G>A r.(=) p.(=) Unknown - likely benign g.66473321C>T - SPTBN2(NM_006946.3):c.1654-13G>A - SPTBN2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1676T>C r.(?) p.(Leu559Pro) Unknown - VUS g.66473286A>G - SPTBN2(NM_006946.2):c.1676T>C (p.(Leu559Pro)) - SPTBN2_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1719C>T r.(?) p.(His573=) Unknown - likely benign g.66473243G>A - SPTBN2(NM_006946.3):c.1719C>T (p.H573=) - SPTBN2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1722G>A r.(?) p.(Glu574=) Unknown - likely benign g.66473240C>T - SPTBN2(NM_006946.3):c.1722G>A (p.E574=) - SPTBN2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1722G>A r.(?) p.(Glu574=) Unknown - likely benign g.66473240C>T - SPTBN2(NM_006946.3):c.1722G>A (p.E574=) - SPTBN2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1807+13C>T r.(=) p.(=) Unknown - likely benign g.66473142G>A - SPTBN2(NM_006946.3):c.1807+13C>T - SPTBN2_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1827G>T r.(?) p.(Pro609=) Unknown - likely benign g.66472920C>A g.66705449C>A SPTBN2(NM_006946.3):c.1827G>T (p.P609=) - SPTBN2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1877T>C r.(?) p.(Leu626Pro) Unknown ACMG VUS (!) g.66472870A>G - - - SPTBN2_000146 ACMG: PS4_SUP, PM2_SUP, PP3 PMID: 33797620 VCV000488611.2 - Germline ? - - - - DNA SEQ-NG-I - - SCA5 189082 - - M no Germany - - - - - 1 Andreas Laner
?/. - c.1882G>A r.(?) p.(Glu628Lys) Unknown - VUS g.66472865C>T - SPTBN2(NM_006946.4):c.1882G>A (p.E628K) - SPTBN2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1972C>T r.(?) p.(Arg658Trp) Unknown - VUS g.66472775G>A g.66705304G>A SPTBN2(NM_006946.3):c.1972C>T (p.R658W) - SPTBN2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1972C>T r.(?) p.(Arg658Trp) Parent #1 - likely benign g.66472775G>A g.66705304G>A - - SPTBN2_000035 37 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs199968321 Germline - 37/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 37 Mohammed Faruq
?/. - c.2002G>A r.(?) p.(Asp668Asn) Unknown - VUS g.66472745C>T g.66705274C>T SPTBN2(NM_006946.2):c.2002G>A (p.(Asp668Asn)), SPTBN2(NM_006946.3):c.2002G>A (p.D668N) - SPTBN2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2002G>A r.(?) p.(Asp668Asn) Unknown - VUS g.66472745C>T - SPTBN2(NM_006946.2):c.2002G>A (p.(Asp668Asn)), SPTBN2(NM_006946.3):c.2002G>A (p.D668N) - SPTBN2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2152G>C r.(?) p.(Ala718Pro) Unknown - VUS g.66472595C>G - SPTBN2(NM_006946.4):c.2152G>C (p.(Ala718Pro)) - SPTBN2_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2162G>A r.(?) p.(Arg721His) Unknown - VUS g.66472585C>T g.66705114C>T - - SPTBN2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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