Full data view for gene SPTA1

Information The variants shown are described using the NM_003126.2 transcript reference sequence.

263 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.-126del r.(?) p.(=) Unknown - benign g.158656443del g.158686653del SPTA1(NM_003126.3):c.-126delT - SPTA1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-126T>C r.(?) p.(=) Unknown - likely benign g.158656433A>G g.158686643A>G SPTA1(NM_003126.3):c.-126T>C - SPTA1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-62A>C r.(?) p.(=) Unknown - benign g.158656369T>G g.158686579T>G SPTA1(NM_003126.3):c.-62A>C - SPTA1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-60T>C r.(?) p.(=) Unknown - benign g.158656367A>G g.158686577A>G SPTA1(NM_003126.3):c.-60T>C - SPTA1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-48_-41dup r.(?) p.(=) Unknown - benign g.158656359_158656366dup g.158686569_158686576dup SPTA1(NM_003126.3):c.-48_-41dupCTCTCTCT - SPTA1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-44_-41dup r.(?) p.(=) Unknown - benign g.158656363_158656366dup g.158686573_158686576dup SPTA1(NM_003126.3):c.-44_-41dupCTCT - SPTA1_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-42_-41dup r.(?) p.(=) Unknown - benign g.158656365_158656366dup g.158686575_158686576dup SPTA1(NM_003126.3):c.-42_-41dupCT - SPTA1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.23C>T r.(?) p.(Thr8Ile) Unknown - likely benign g.158656285G>A - SPTA1(NM_003126.3):c.23C>T (p.T8I) - SPTA1_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.24+3A>G r.spl? p.? Unknown - benign g.158656281T>C g.158686491T>C SPTA1(NM_003126.3):c.24+3A>G, SPTA1(NM_003126.4):c.24+3A>G - SPTA1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.24+3A>G r.spl? p.? Unknown - benign g.158656281T>C g.158686491T>C SPTA1(NM_003126.3):c.24+3A>G, SPTA1(NM_003126.4):c.24+3A>G - SPTA1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.24+27A>G r.(=) p.(=) Unknown - benign g.158656257T>C g.158686467T>C SPTA1(NM_003126.3):c.24+27A>G - SPTA1_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.24+132_24+137del r.(=) p.(=) Unknown - benign g.158656152_158656157del g.158686362_158686367del SPTA1(NM_003126.3):c.24+132_24+137delCTTTTA - SPTA1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.25-178A>T r.(=) p.(=) Unknown - benign g.158655315T>A g.158685525T>A SPTA1(NM_003126.3):c.25-178A>T - SPTA1_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.25-25G>T r.(=) p.(=) Unknown - benign g.158655162C>A g.158685372C>A SPTA1(NM_003126.3):c.25-25G>T - SPTA1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.33G>C r.(?) p.(Glu11Asp) Unknown - likely benign g.158655129C>G g.158685339C>G SPTA1(NM_003126.3):c.33G>C (p.E11D) - SPTA1_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.33G>C r.(?) p.(Glu11Asp) Unknown - likely benign g.158655129C>G - SPTA1(NM_003126.3):c.33G>C (p.E11D) - SPTA1_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.82C>A r.(?) p.(Arg28Ser) Unknown - pathogenic g.158655080G>T g.158685290G>T SPTA1(NM_003126.3):c.82C>A (p.R28S) - SPTA1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.82C>G r.(?) p.(Arg28Gly) Unknown - pathogenic g.158655080G>C g.158685290G>C SPTA1(NM_003126.3):c.82C>G (p.R28G) - SPTA1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.83G>A r.(?) p.(Arg28His) Unknown - pathogenic g.158655079C>T g.158685289C>T SPTA1(NM_003126.3):c.83G>A (p.R28H) - SPTA1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.95T>C r.(?) p.(Leu32Ser) Unknown - VUS g.158655067A>G - - - SPTA1_000221 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.100C>T r.(?) p.(Arg34Trp) Unknown - pathogenic g.158655062G>A g.158685272G>A SPTA1(NM_003126.3):c.100C>T (p.R34W) - SPTA1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.101G>C r.(?) p.(Arg34Pro) Unknown - pathogenic g.158655061C>G g.158685271C>G SPTA1(NM_003126.3):c.101G>C (p.R34P) - SPTA1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.121C>A r.(?) p.(Arg41=) Unknown - likely benign g.158655041G>T g.158685251G>T SPTA1(NM_003126.3):c.121C>A (p.R41=) - SPTA1_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.126C>T r.(?) p.(Val42=) Unknown - benign g.158655036G>A g.158685246G>A SPTA1(NM_003126.3):c.126C>T (p.V42=), SPTA1(NM_003126.4):c.126C>T (p.V42=) - SPTA1_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.126C>T r.(?) p.(Val42=) Unknown - benign g.158655036G>A g.158685246G>A SPTA1(NM_003126.3):c.126C>T (p.V42=), SPTA1(NM_003126.4):c.126C>T (p.V42=) - SPTA1_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.134G>C r.(?) p.(Arg45Thr) Unknown - pathogenic g.158655028C>G - SPTA1(NM_003126.3):c.134G>C (p.R45T) - SPTA1_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.264+46T>C r.(=) p.(=) Unknown - benign g.158654852A>G g.158685062A>G SPTA1(NM_003126.3):c.264+46T>C - SPTA1_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.264+112G>A r.(=) p.(=) Unknown - benign g.158654786C>T g.158684996C>T SPTA1(NM_003126.3):c.264+112G>A - SPTA1_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.264+239C>T r.(=) p.(=) Unknown - benign g.158654659G>A g.158684869G>A SPTA1(NM_003126.3):c.264+239C>T - SPTA1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.264+240A>G r.(=) p.(=) Unknown - benign g.158654658T>C g.158684868T>C SPTA1(NM_003126.3):c.264+240A>G - SPTA1_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.265-24A>C r.(=) p.(=) Unknown - benign g.158653310T>G g.158683520T>G SPTA1(NM_003126.3):c.265-24A>C - SPTA1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.349G>T r.(?) p.(Glu117Ter) Unknown - likely pathogenic g.158653202C>A - - - SPTA1_000216 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.352C>T r.(?) p.(Arg118*) Unknown - pathogenic g.158653199G>A - SPTA1(NM_003126.3):c.352C>T (p.R118*) - SPTA1_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.373G>A r.(?) p.(Ala125Thr) Unknown - VUS g.158653178C>T - SPTA1(NM_003126.3):c.373G>A (p.A125T), SPTA1(NM_003126.4):c.373G>A (p.A125T) - SPTA1_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.373G>A r.(?) p.(Ala125Thr) Unknown - likely benign g.158653178C>T - SPTA1(NM_003126.3):c.373G>A (p.A125T), SPTA1(NM_003126.4):c.373G>A (p.A125T) - SPTA1_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.390+1G>T r.(?) p.(?) Unknown - likely pathogenic g.158653160C>A - - - SPTA1_000222 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.427C>A r.(?) p.(Leu143Met) Unknown - VUS g.158651421G>T - SPTA1(NM_003126.4):c.427C>A (p.L143M) - SPTA1_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.452G>A r.(?) p.(Gly151Asp) Unknown - pathogenic g.158651396C>T g.158681606C>T SPTA1(NM_003126.2):c.452G>A (p.(Gly151Asp)) - SPTA1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.466C>T r.(?) p.(Arg156Trp) Unknown - VUS g.158651382G>A - SPTA1(NM_003126.4):c.466C>T (p.R156W) - SPTA1_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.678G>A r.(?) p.(Glu226=) Unknown - pathogenic g.158650373C>T g.158680583C>T SPTA1(NM_003126.3):c.678G>A (p.E226=) - SPTA1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.679-166A>G r.(=) p.(=) Unknown - benign g.158648490T>C g.158678700T>C SPTA1(NM_003126.3):c.679-166A>G - SPTA1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.679-5A>C r.spl? p.? Unknown - likely benign g.158648329T>G - SPTA1(NM_003126.3):c.679-5A>C - SPTA1_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.757G>C r.(?) p.(Ala253Pro) Unknown - likely pathogenic g.158648246C>G - - - SPTA1_000211 - - - rs1384649105 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.779T>C r.(?) p.(Leu260Pro) Unknown - pathogenic g.158648224A>G g.158678434A>G SPTA1(NM_003126.3):c.779T>C (p.L260P) - SPTA1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.779T>C r.(?) p.(Leu260Pro) Unknown - likely pathogenic g.158648224A>G - - - SPTA1_000122 - - - rs121918634 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.793A>G r.(?) p.(Asn265Asp) Unknown - benign g.158648210T>C g.158678420T>C SPTA1(NM_003126.3):c.793A>G (p.N265D) - SPTA1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.798A>G r.(?) p.(Leu266=) Unknown - benign g.158648205T>C g.158678415T>C SPTA1(NM_003126.3):c.798A>G (p.L266=) - SPTA1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.812+86T>G r.(=) p.(=) Unknown - benign g.158648105A>C g.158678315A>C SPTA1(NM_003126.3):c.812+86T>G - SPTA1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.812+183G>T r.(=) p.(=) Unknown - benign g.158648008C>A g.158678218C>A SPTA1(NM_003126.3):c.812+183G>T - SPTA1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.813-105T>C r.(=) p.(=) Unknown - benign g.158647729A>G g.158677939A>G SPTA1(NM_003126.3):c.813-105T>C - SPTA1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.813-45A>G r.(=) p.(=) Unknown - benign g.158647669T>C g.158677879T>C SPTA1(NM_003126.3):c.813-45A>G - SPTA1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.813-7A>T r.(=) p.(=) Unknown - benign g.158647631T>A g.158677841T>A SPTA1(NM_003126.3):c.813-7A>T, SPTA1(NM_003126.4):c.813-7A>T - SPTA1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.813-7A>T r.(=) p.(=) Unknown - benign g.158647631T>A g.158677841T>A SPTA1(NM_003126.3):c.813-7A>T, SPTA1(NM_003126.4):c.813-7A>T - SPTA1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.915T>C r.(?) p.(Ser305=) Unknown - benign g.158647522A>G g.158677732A>G SPTA1(NM_003126.3):c.915T>C (p.S305=), SPTA1(NM_003126.4):c.915T>C (p.S305=) - SPTA1_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.915T>C r.(?) p.(Ser305=) Unknown - benign g.158647522A>G g.158677732A>G SPTA1(NM_003126.3):c.915T>C (p.S305=), SPTA1(NM_003126.4):c.915T>C (p.S305=) - SPTA1_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.917A>C r.(?) p.(His306Pro) Unknown - VUS g.158647520T>G g.158677730T>G SPTA1(NM_003126.3):c.917A>C (p.H306P) - SPTA1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.942T>A r.(?) p.(Ala314=) Unknown - benign g.158647495A>T g.158677705A>T SPTA1(NM_003126.3):c.942T>A (p.A314=), SPTA1(NM_003126.4):c.942T>A (p.A314=) - SPTA1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.942T>A r.(?) p.(Ala314=) Unknown - benign g.158647495A>T g.158677705A>T SPTA1(NM_003126.3):c.942T>A (p.A314=), SPTA1(NM_003126.4):c.942T>A (p.A314=) - SPTA1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.957+168T>C r.(=) p.(=) Unknown - benign g.158647312A>G g.158677522A>G SPTA1(NM_003126.3):c.957+168T>C - SPTA1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.958-138A>G r.(=) p.(=) Unknown - benign g.158646223T>C g.158676433T>C SPTA1(NM_003126.3):c.958-138A>G - SPTA1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1078A>T r.(?) p.(Thr360Ser) Unknown - likely benign g.158645965T>A g.158676175T>A SPTA1(NM_003126.3):c.1078A>T (p.T360S) - SPTA1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1112+169T>C r.(=) p.(=) Unknown - benign g.158645762A>G g.158675972A>G SPTA1(NM_003126.3):c.1112+169T>C - SPTA1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1161C>T r.(?) p.(Asn387=) Unknown - likely benign g.158644417G>A - SPTA1(NM_003126.3):c.1161C>T (p.N387=) - SPTA1_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1248+36C>A r.(=) p.(=) Unknown - benign g.158644294G>T g.158674504G>T SPTA1(NM_003126.3):c.1248+36C>A - SPTA1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1350+1G>T r.(?) p.(?) Unknown - pathogenic g.158644118C>A - - - SPTA1_000214 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1350+14A>T r.(=) p.(=) Unknown - benign g.158644105T>A g.158674315T>A SPTA1(NM_003126.3):c.1350+14A>T, SPTA1(NM_003126.4):c.1350+14A>T - SPTA1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1350+14A>T r.(=) p.(=) Unknown - benign g.158644105T>A g.158674315T>A SPTA1(NM_003126.3):c.1350+14A>T, SPTA1(NM_003126.4):c.1350+14A>T - SPTA1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1351-4A>G r.spl? p.? Unknown - likely benign g.158641990T>C g.158672200T>C SPTA1(NM_003126.3):c.1351-4A>G - SPTA1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1399G>A r.(?) p.(Glu467Lys) Unknown - likely benign g.158641938C>T - - - SPTA1_000225 - - - rs376169797 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1487_1488dup r.(?) p.(Ala497Argfs*38) Unknown - likely pathogenic g.158641851_158641852dup - SPTA1(NM_003126.3):c.1488_1488+1insAG - SPTA1_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1489-198A>G r.(=) p.(=) Unknown - benign g.158641441T>C g.158671651T>C SPTA1(NM_003126.3):c.1489-198A>G - SPTA1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1489-41C>A r.(=) p.(=) Unknown - benign g.158641284G>T g.158671494G>T SPTA1(NM_003126.3):c.1489-41C>A - SPTA1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1490C>A r.(?) p.(Ala497Asp) Unknown - VUS g.158641242G>T - - - SPTA1_000210 - - - rs199604294 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1600-25T>C r.(=) p.(=) Unknown - benign g.158639601A>G g.158669811A>G SPTA1(NM_003126.3):c.1600-25T>C - SPTA1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1600-10A>G r.(=) p.(=) Unknown - benign g.158639586T>C g.158669796T>C SPTA1(NM_003126.3):c.1600-10A>G - SPTA1_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1677+60G>T r.(=) p.(=) Unknown - benign g.158639439C>A g.158669649C>A SPTA1(NM_003126.3):c.1677+60G>T - SPTA1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1688G>A r.(?) p.(Arg563Gln) Unknown - VUS g.158639343C>T - SPTA1(NM_003126.3):c.1688G>A (p.R563Q) - SPTA1_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1688G>A r.(?) p.(Arg563Gln) Unknown - VUS g.158639343C>T - - - SPTA1_000206 - - - rs202243588 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1703G>A r.(?) p.(Arg568His) Unknown - likely benign g.158639328C>T g.158669538C>T SPTA1(NM_003126.3):c.1703G>A (p.R568H), SPTA1(NM_003126.4):c.1703G>A (p.R568H) - SPTA1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1703G>A r.(?) p.(Arg568His) Unknown - VUS g.158639328C>T - SPTA1(NM_003126.3):c.1703G>A (p.R568H), SPTA1(NM_003126.4):c.1703G>A (p.R568H) - SPTA1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1833+92C>T r.(=) p.(=) Unknown - benign g.158639106G>A g.158669316G>A SPTA1(NM_003126.3):c.1833+92C>T - SPTA1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1833+169T>C r.(=) p.(=) Unknown - benign g.158639029A>G g.158669239A>G SPTA1(NM_003126.3):c.1833+169T>C - SPTA1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1834-16_1834-14del r.(=) p.(=) Unknown - benign g.158637879_158637881del g.158668089_158668091del SPTA1(NM_003126.3):c.1834-16_1834-14delTTT - SPTA1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1834-15_1834-14del r.(=) p.(=) Unknown - benign g.158637880_158637881del g.158668090_158668091del SPTA1(NM_003126.3):c.1834-15_1834-14delTT - SPTA1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1834-14del r.(=) p.(=) Unknown - benign g.158637881del g.158668091del SPTA1(NM_003126.3):c.1834-14delT - SPTA1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1834-14dup r.(=) p.(=) Unknown - benign g.158637881dup g.158668091dup SPTA1(NM_003126.3):c.1834-14dupT - SPTA1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1850dup r.(?) p.(Ser618GlufsTer10) Unknown - pathogenic g.158637837dup g.158668047dup SPTA1(NM_003126.3):c.1850dupA (p.S618Efs*10) - SPTA1_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1958A>G r.(?) p.(Tyr653Cys) Unknown - benign g.158637728T>C g.158667938T>C SPTA1(NM_003126.2):c.1958A>G (p.(Tyr653Cys)), SPTA1(NM_003126.3):c.1958A>G (p.Y653C) - SPTA1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1958A>G r.(?) p.(Tyr653Cys) Unknown - likely benign g.158637728T>C g.158667938T>C SPTA1(NM_003126.2):c.1958A>G (p.(Tyr653Cys)), SPTA1(NM_003126.3):c.1958A>G (p.Y653C) - SPTA1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1958A>G r.(?) p.(Tyr653Cys) Parent #1 - VUS g.158637728T>C g.158667938T>C - - SPTA1_000093 conflicting interpretations of pathogenicity; 13 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs148912436 Germline - 13/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 13 Mohammed Faruq
+/. - c.1959T>A r.(?) p.(Tyr653Ter) Unknown - pathogenic g.158637727A>T g.158667937A>T SPTA1(NM_003126.3):c.1959T>A (p.Y653*) - SPTA1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1982G>A r.(?) p.(Arg661His) Unknown - likely benign g.158637704C>T g.158667914C>T SPTA1(NM_003126.3):c.1982G>A (p.R661H) - SPTA1_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1982G>A r.(?) p.(Arg661His) Unknown - benign g.158637704C>T g.158667914C>T SPTA1(NM_003126.3):c.1982G>A (p.R661H) - SPTA1_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2093A>T r.(?) p.(Asp698Val) Unknown - VUS g.158636233T>A g.158666443T>A SPTA1(NM_003126.3):c.2093A>T (p.D698V) - SPTA1_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2102G>A r.(?) p.(Arg701His) Unknown - benign g.158636224C>T g.158666434C>T SPTA1(NM_003126.3):c.2102G>A (p.R701H) - SPTA1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2221-184T>C r.(=) p.(=) Unknown - benign g.158632919A>G g.158663129A>G SPTA1(NM_003126.3):c.2221-184T>C - SPTA1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2221-24G>A r.(=) p.(=) Unknown - benign g.158632759C>T g.158662969C>T SPTA1(NM_003126.3):c.2221-24G>A - SPTA1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2353C>A r.(?) p.(Arg785=) Unknown - benign g.158632603G>T g.158662813G>T SPTA1(NM_003126.3):c.2353C>A (p.R785=) - SPTA1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2353C>T r.(?) p.(Arg785Ter) Unknown - pathogenic g.158632603G>A g.158662813G>A SPTA1(NM_003126.3):c.2353C>T (p.R785*) - SPTA1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2373C>A r.(?) p.(Asp791Glu) Unknown - pathogenic g.158632583G>T g.158662793G>T SPTA1(NM_003126.3):c.2373C>A (p.D791E) - SPTA1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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